INSERT INTO `ChimerPub_dump` VALUES ('8561', 'CD8_CD4', '', 'CD8', 'CD4', '1479104', '12', 'cutaneous T cell lymphoma;mycosis fungoides', '', '', '', '', '', '', '', '', 'seven of eight lymphomas tested were predominantly CD4+ although in only three were abnormal CD4/CD8 ratios present. '), ('8562', 'MUS81_EME1', '', 'MUS81', 'EME1', '23811686', '12', '', '', '', '', '', '', '', '', '', 'To decipher the mechanisms protecting CFSs in G2/M, we searched for proteins that co-localize with FANCD2 on mitotic chromosomes, and identified XPF-ERCC1 and MUS81-EME1, two structure-specific endonucleases.     ///    We show that depletion of either ERCC1 or MUS81-EME1 affects accurate processing of replication intermediates or under-replicated DNA that persist at CFSs until mitosis.     ///    ERCC1 and MUS81-EME1 promote sister chromatid separation by processing late replication intermediates at common fragile sites during mitosis.. '), ('8563', 'ROP_RAC', '', 'ROP', 'RAC', '18977167', '12', '', '', '', '', '', '', '', '', '', ' Signaling molecules, such as ROP/RAC GTPases and their regulators, reactive oxygen species (ROS) and phospholipids, play pivotal roles in the control of tip growth in pollen tubes and root hairs. '), ('8564', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '22915647', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'One thousand patients with cytogenetic data were investigated for the following molecular alterations: PML-RARA, RUNX1-RUNX1T1, CBFB-MYH11, FLT3-ITD, and MLL-PTD, as well as mutations in NPM1, CEPBA, RUNX1, ASXL1, and TP53.     ///    \"(2) favorable: RUNX1-RUNX1T1 (n = 35), CBFB-MYH11 (n = 31), or NPM1 mutation without FLT3-ITD (n = 186. \"'), ('8565', 'RAC1_GEF', '', 'RAC1', 'GEF', '16954223', '12', '', '', '', '', '', '', '', '', '', 'Notably, the Rac1-GEF activity of betaPIX persisted for an extended period of time following bFGF stimulation, unlike other Rho GEFs containing the Dbl homology domain.     ///    \"However, the mechanism by which this phosphorylation event regulates the Rac1-GEF activity remained elusive. \"'), ('8566', 'CD57_CD16', '', 'CD57', 'CD16', '7755158', '12', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemical studies of the lymphoma cells showed a T-cell phenotype: CD2+ CD3+ CD5+ CD7+ gamma delta-TCR+ alpha beta-TCR- CD56+ CD4- CD8- CD16- CD57-. '), ('8567', 'RET_PTC', '', 'RET', 'PTC', '21048359', '12', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Before undergoing thyroidectomy, we performed molecular diagnostic tests that revealed the absence of BRAF(V600E) and the presence of RET/PTC-1 in one nodule and RET/PTC-3 in the two others. '), ('8568', 'TCR_SAG', '', 'TCR', 'SAG', '9500785', '12', '', '', '', '', '', '', '', '', '', 'We also find that there is an interplay between TCR-SAG and SAG-MHC interactions in determining mitogenic potency, such that a small increase in the affinity of a SAG for MHC can overcome a large decrease in the SAG\'s affinity for the TCR. '), ('8569', 'RNU6ATAC_RNU4ATAC', '', 'RNU6ATAC', 'RNU4ATAC', '15923601', '12', '', '', '', '', '', '', '', '', '', 'However, the U12/5\' exon interaction is transient, occurring prior to the entry of the U4atac/U6atac.U5 tri-snRNP to the spliceosome. '), ('8570', 'VEGFR3_VEGFC', '', 'VEGFR3', 'VEGFC', '25543087', '12', 'colorectal carcinoma\r\r', '', '', '', '', '', '', '', '', 'Further evidence demonstrated that CRC cell induces the activation of NRP2 in LECs to promote tumor lymphangiogenesis via integrin?9?1/FAK/Erk pathway independent VEGF-C/VEGFR3 signaling.     ///    Neuropilin-2 mediates lymphangiogenesis of colorectal carcinoma via a VEGFC/VEGFR3 independent signaling.. '), ('8571', 'RET_PTC3', '', 'RET', 'PTC3', '12182064', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC3 seems to be associated with solid/follicular variant PTC and short latency period (it is found more frequently in children) whereas RET/PTC1--with classic PTC variant and long latency..     ///    The majority of RET/PTC identified consists of two types which results from the inversion of chromosome 10: RET/PTC1 and RET/PTC3. '), ('8572', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '11121059', '12', 'Omenn syndrome', '', '', '', '', '', '', '', '', 'We have previously attributed this disorder to missense mutations that render the RAG1/RAG2 recombinase only partially active. '), ('8573', 'CXCR4_CXCL12', '', 'CXCR4', 'CXCL12', '25619477', '12', 'lung cancer;adenocarcinoma\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Furthermore, Fraxiparine might destroy the interaction between CXCL12-CXCR4 axis, then suppress the PI3K-Akt-mTOR signaling pathway in lung cancer cells.     ///    \"For the first time, our data indicated that Fraxiparine could significantly inhibit the motility of lung cancer cells by restraining the actin cytoskeleton reorganization, and its related mechanism might be through inhibiting PI3K-Akt-mTOR signaling pathway mediated by CXCL12-CXCR4 axis. \"'), ('8574', 'EML4_ALK', '', 'EML4', 'ALK', '23918070', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The inhibitor of the EML4/ALK fusion protein, crizotinib, has recently become a standard second-line treatment for patients with the gene rearrangement and has promise for patients with the ROS1 rearrangement. '), ('8575', 'RET_PTC3', '', 'RET', 'PTC3', '11298625', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'One tumour expressed RET/PTC3, one a variant of RET/PTC3, and one RET/PTC1 and WT-RET simultaneously. '), ('8576', 'PGL_PCC', '', 'PGL', 'PCC', '24375508', '12', 'paraganglioma\r\r', '', '', '', '', '', '', '', '', 'This is the first report of PGL/PCC with SDHD and RET mutations.     ///    Clinicians should refer PGL/PCC families for mutation analysis as well as being alert to changes in the classification of mutations.. '), ('8577', 'CUX_CDP', '', 'CUX', 'CDP', '12115525', '12', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Expression of N-terminally truncated isoforms of CDP/CUX is increased in human uterine leiomyomas.. '), ('8578', 'TAT_TAB1', '', 'TAT', 'TAB1', '24037507', '12', 'myocardial ischemia', '', '', '', '', '', '', '', '', 'In isolated rat cardiac myocytes and perfused mouse hearts, TAT-TAB1(371-416) rapidly activates p38 and profoundly perturbs function. '), ('8579', 'CFL1_ADF', '', 'CFL1', 'ADF', '15056216', '12', '', '', '', '', '', '', '', '', '', 'These data suggest that ADF/cofilin activities play a key role in the actin polymerization/depolymerization process induced by Salmonella.     ///    \"Expression of a kinase dead form of an ADF/cofilin kinase (LIM kinase 1) or a catalytically inactive ADF/cofilin phosphatase (Slingshot), but not constitutively active LIM kinase 1 or wild-type Slingshot, resulted in decreased invasion. \"    ///    The activation of ADF/cofilin is brief and has to be reversed to facilitate efficient bacterial entry. '), ('8580', 'U2AF65_SF3B155', '', 'U2AF65', 'SF3B155', '16376933', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, the complex of the SF1/U2AF65 interacting domains is stabilized by 3.3 kcal mol-1 relative to the complex of the SF3b155/U2AF65 interacting domains, consistent with the need for ATP hydrolysis to drive exchange of these partners during pre-mRNA splicing. '), ('8581', 'CD8_CD4', '', 'CD8', 'CD4', '23818738', '12', 'T cell lymphoma', '', '', '', '', '', '', '', '', 'The CD4:CD8 ratio had a higher mean value in the uveitis group (P=.0113), and 8 T-cell lymphomas had a statistically greater number of CD3+ lymphocytes compared to uveitis (P=.0199) by two-sample test of means.     ///    \"Likelihood ratios were highest for CD2, CD5, CD7, CD4:CD8 ratio, CD20, and CD22. \"'), ('8582', 'MRP1_ABCC1', '', 'MRP1', 'ABCC1', '18633430', '12', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel arsenical has antitumor activity toward As2O3-resistant and MRP1/ABCC1-overexpressing cell lines.. '), ('8583', 'IGF1_IR', '', 'IGF1', 'IR', '22215903', '12', 'leukemia;lung cancer\r\r', '', '', '', '', '', '', '', '', 'These agents include drugs for blocking the insulin-like growth factor I/insulin receptor pathways, mitotic kinase inhibitors, and Hsp90 antagonists. '), ('8584', 'TLS_DIC', '', 'TLS', 'DIC', '24040098', '12', 'disseminated intravascular coagulation;tumor lysis syndrome', '', '', '', '', '', '', '', '', 'Moreover, the SIL-TAL1(+) mice models exerted a tendency of TLS/DIC and seemed vulnerable towards chemotherapy, which further simulated our clinical settings. '), ('8585', 'CD11C_ANXA1', '', 'CD11C', 'ANXA1', '23928529', '12', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemical study showed the following results: CD20(+) PAX5(+) CD3(-) CD5(-) CD10(-) cyclin D1(-) CD23(-) CD43(-) Annexin A1(-) CD11C(-) CD25(-) in all the 22 cases, CD38(+) in 2 cases (9.1%) and CD138(+) in 2 cases (9.1%). '), ('8586', 'CD18_CD11B', '', 'CD18', 'CD11B', '19262176', '12', '', '', '', '', '', '', '', '', '', 'We demonstrated that via activation of beta(2) integrin receptor Mac-1 (CD11b/CD18) active cathepsin X enhances adhesion of monocytes/macrophages to fibrinogen and regulates the phagocytosis. '), ('8587', 'PBR_AIR', '', 'PBR', 'AIR', '15147273', '12', '', '', '', '', '', '', '', '', '', 'In addition, a number of intra-molecular interactions among the SH3 domains, PBR/AIR and the linker tightly hold the architecture of the tandem SH3 domains into the compact structure and stabilize the autoinhibited form synergistically.     ///    The GAPPR sequence involved in PBR/AIR forms a left-handed polyproline type-II helix (PPII) and interacts with the conserved SH3 binding surfaces of the SH3 domains simultaneously.     ///    Phosphorylation of the serine residues in PBR/AIR could destabilize and successively release the intra-molecular interactions. '), ('8588', 'TRK_T1', '', 'TRK', 'T1', '12586769', '12', '', '', '', '', '', '', '', '', '', 'In this paper, we investigate the role of FRS2 and FRS3, two related adapter proteins activated by fibroblast growth factor and NTRK1 receptors, in the signaling of the thyroid TRK-T1 and TRK-T3 oncogenes.     ///    \"By a combination of in vitro and in vivo assays, we demonstrate that both fibroblast growth factor receptor substrate (FRS)2 and FRS3 are recruited and activated by TRK-T1 and TRK-T3. \"'), ('8589', 'DMD_BMD', '', 'DMD', 'BMD', '9004137', '12', 'Duchenne and Becker muscular dystrophies\r\r', '', '', '', '', '', '', '', '', 'When the junction fragments were used as markers, five carriers were unequivocally diagnosed among six females from two families of DMD/ BMD patients.     ///    This novel method allows simple and definitive identification of carriers with risk factors for DMD/BMD without using quantitative Southern blot hybridisation.. '), ('8590', 'CD8_CD57', '', 'CD8', 'CD57', '11224611', '12', 'T cell lymphoma;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Lymphoma cells in all cases were CD4+ CD8- CD57- bcl-6, with CD10 coexpression in 2 cases. '), ('8591', 'P25_CDK5', '', 'P25', 'CDK5', '20599546', '12', '', '', 'Kinase', '', '', '', '', '', '', ' The crystal structure of the cdk5/p25 complex has provided information on possible molecular mechanisms of the ligand binding, specificity, and regulation of the kinase. '), ('8592', 'MUTYH_APC', '', 'MUTYH', 'APC', '20924072', '12', 'familial adenomatous polyposis', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition..     ///    These APC/MUTYH-negative families showed clinical differences with the APC-positive families.     ///    APC/MUTYH mutations were detected in 107 families. '), ('8593', 'PPS_PEG', '', 'PPS', 'PEG', '16171345', '12', '', '', '', '', '', '', '', '', '', 'We have previously reported the oxidative degradation of vesicles made of poly(propylene sulfide)-poly(ethylene glycol) (PPS-PEG) copolymers. '), ('8594', 'BCR_ABL1', '', 'BCR', 'ABL1', '19806146', '12', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The diagnosis of chronic myelogenous leukemia requires the presence of BCR-ABL1, while its absence is required for all other MPN. '), ('8595', 'TCR_CD3', '', 'TCR', 'CD3', '12111871', '12', 'leg ulcer;polyarthritis;T cell leukemia', '', '', '', '', '', '', '', '', 'Immunophenotyping showed an expansion of CD3(+)/TCR alpha beta(+)/CD8(+bright)/CD11c(+)/CD57(-)/CD56(-) large granular lymphocytes with expression of the TCR-V beta 5.1 family. '), ('8596', 'NPM_ALK', '', 'NPM', 'ALK', '26753883', '12', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we present a model of peripheral ALCL pathogenesis where the malignancy is initiated in early thymocytes, before T-cell receptor (TCR) ?-rearrangement, which is bypassed in CD4/NPM-ALK transgenic mice following Notch1 expression. '), ('8597', 'CD40_CD154', '', 'CD40', 'CD154', '10837404', '12', 'X linked hyper IgM syndrome', '', '', '', '', '', '', '', '', 'The influence of CD40-CD154 interactions on the expressed human V(H) repertoire: analysis of V(H) genes expressed by individual B cells of a patient with X-linked hyper-IgM syndrome..     ///    These results have suggested that specific influences on the composition of the V(H) repertoire in normals require CD40-CD154 interactions..     ///     Analysis of the V(H)DJ(H) repertoire of peripheral blood IgM(+) B cells from a patient with X-linked hyper-IgM syndrome (X-HIgM) was undertaken to determine whether the distribution of V(H) families in the productive repertoire might be regulated by in vivo CD40-CD154 interactions. '), ('8598', 'CFL1_ADF', '', 'CFL1', 'ADF', '15030752', '12', '', '', '', '', '', '', '', '', '', 'identify mechanisms by which the Salmonella protein SipA interferes with ADF/cofilin and gelsolin function. '), ('8599', 'APC3_APC16', '', 'APC3', 'APC16', '25490258', '12', '', '', '', '', '', '', '', '', '', 'Structure of an APC3-APC16 complex: insights into assembly of the anaphase-promoting complex/cyclosome.. '), ('8600', 'ROS1_CD74', '', 'ROS1', 'CD74', '25351743', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'As the result of high-throughput drug screening, we found that the cMET/RET/VEGFR inhibitor cabozantinib (XL184) effectively inhibited the survival of CD74-ROS1 wild-type (WT) and resistant mutants harboring Ba/F3 and MGH047 cells.     ///    Acquired ROS1 inhibitor-resistant mutations in CD74-ROS1 fusion were screened by N-ethyl-N-nitrosourea mutagenesis with Ba/F3 cells. '), ('8601', 'PSA_NCAM', '', 'PSA', 'NCAM', '12698979', '12', '', '', '', '', '', '', '', '', '', 'Recent work indicates that the polysialylated form of neural cell adhesion molecule (PSA-NCAM), a marker of neuroplasticity, is well positioned anatomically to contribute to seasonal structural and functional alterations. '), ('8602', 'MK5_HSP27', '', 'MK5', 'HSP27', '19166925', '12', '', '', '', '', '', '', '', '', '', 'These findings render the MK5/Hsp27 connection into a putative therapeutic target for conditions with aberrant Hsp27 phosphorylation such as metastasis, cardiovascular diseases, muscle atrophy, autoimmune skin disease and neuropathology.. '), ('8603', 'APE1_APC', '', 'APE1', 'APC', '10485134', '12', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Gene assignment in the spider monkey (Ateles paniscus chamek--APC): APE-MYH7 to 2q. '), ('8604', 'WAVE_NAP1', '', 'WAVE', 'NAP1', '16831833', '12', '', '', '', '', '', '', '', '', '', 'Other morphogenetic processes appear to proceed normally in the absence of Nap1/WAVE activity: the notochord, the layers of the heart, and the epithelial-to-mesenchymal transition (EMT) at gastrulation appear normal.     ///    \"Thus, the Nap1 mutant phenotypes define the crucial roles of Nap1/WAVE-mediated actin regulation in tissue organization and establishment of the body plan of the mammalian embryo.. \"'), ('8605', 'CCNE_CDK2', '', 'CCNE', 'CDK2', '10411338', '12', 'astrocytoma', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', ' p27/kip1 regulates the G1-S transition of the cell cycle by inhibiting cyclin D-CDK4, cyclin E-CDK2, and cyclin A-CDK2. '), ('8606', 'TIA1_CD8', '', 'TIA1', 'CD8', '18644018', '12', 'mycosis fungoides\r\r', '', '', '', '', '', '', '', '', 'Four phenotypic groups could be identified: group A (alpha/beta+ CD4+ CD8- TIA1-), 51 patients.     ///    \"and group D (alpha/beta+ CD4- CD8- TIA1-), two patients. \"'), ('8607', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '19175693', '12', 'essential thrombocythemia;polycythemia vera;primary myelofibrosis;systemic mastocytosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1 is associated with chronic myelogenous leukaemia (CML) and mutant PDGFR with an MPN phenotype characterized by eosinophilia and in addition, in case of FIP1L1-PDGFRA, bone marrow mastocytosis.     ///    FIP1L1-PDGFRA) or inter-chromosomal (e.g. '), ('8608', 'DHB_AMP', '', 'DHB', 'AMP', '12221282', '12', '', '', '', '', '', '', '', '', '', 'It\'s structure is solved in three different states, without the ligands ATP and DHB (native state), with the product DHB-AMP (adenylate state) and with the hydrolyzed product AMP and DHB (hydrolyzed state). '), ('8609', 'CD8_CD4', '', 'CD8', 'CD4', '1766265', '12', '', '', '', '', '', '', '', '', '', 'The patient remained in a hematologically stable condition, though a minor T-cell population representing the clonal expansion, an inverted CD4/CD8 ratio and low immunoglobulin levels persisted. '), ('8610', 'CD10_BCL6', '', 'CD10', 'BCL6', '11567225', '12', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The Bcl-6/CD10 coexpression was observed in 35 DLBCLs (34%) and 14 FLs (82%), and most of them showed a pattern of Bcl-6 expression similar to that of the GC.     ///    Bcl-2 expression or bcl-2R did not correlate with Bcl-6/CD10 coexpression. '), ('8611', 'RAD_MP2', '', 'RAD', 'MP2', '19309121', '12', '', '', '', '', '', '', '', '', '', 'G3B3 and G3(MP2)-RAD levels of theory were used as reference procedures in order to evaluate the efficiency of other computational models. '), ('8612', 'VEGF_TGFB1', '', 'VEGF', 'TGFB1', '18980215', '12', '', '', '', '', '', '', '', '', '', 'These results show that the adherens junction is an important regulatory component of TGF-beta1-VEGF interaction in endothelial cells.. '), ('8613', 'FUS_CHOP', '', 'FUS', 'CHOP', '19190116', '12', 'liposarcoma;sarcoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'One hypothesis is that the activity of trabectedin is related to the inactivation of the FUS-CHOP oncogene.     ///    We find that trabectedin causes detachment of the FUS-CHOP chimera from targeted promoters. '), ('8614', 'TDGF1_CRIPTO', '', 'TDGF1', 'CRIPTO', '21183895', '12', 'holoprosencephaly\r\r', '', '', '', '', '', '', '', '', 'Genetic causes are responsible for about 20% of cases: they are chromosomal abnormalities and gene mutations: up to date, nine genes (SHH, ZIC2, SIX3, TGIF, PATCHED1, TDGF1/CRIPTO, FAST1, GLI2 and DHCR) are definitely associated with HPE, but many others candidate gene are under investigation. '), ('8615', 'FBXW6_CCDC6', '', 'FBXW6', 'CCDC6', '23108047', '12', 'lung cancer\r\r', '', '', '', '', '', '', '', '', 'Mechanistically, phosphorylation of CCDC6 at Thr434 by ATM during DNA damage response prevents FBXW6-CCDC6 interaction and FBXW7-mediated CCDC6 degradation. '), ('8616', 'DMD_BMD', '', 'DMD', 'BMD', '7858172', '12', 'duchenne and Becker muscular dystrophy\r\r', '', '', '', '', '', '', '', '', 'Molecular analysis was performed on 111 DMD/BMD families (five BMD and 106 DMD) with 81 available probands.     ///    \"We were able to exclude the diagnosis of DMD/BMD in 49 families on the basis of clinical symptoms and signs, normal dystrophin on biopsy (11 families) and/or the absence of linkage to chromosome X by analysis of RFLP derived haplotypes. \"    ///    \"This study resulted in the establishment in Israel of an integrated diagnostic protocol for DMD/BMD, employing genetic, biochemical and molecular techniques. \"    ///    BMD/DMD patients and 2/3 of female carriers have high levels of creatine phosphokinase (CK). '), ('8617', 'UPAR_IGF2R', '', 'UPAR', 'IGF2R', '11408925', '12', '', '', 'Kinase', '', '', '', '', '', '', 'There was no evidence for disruption of the UPAR-IGF2R TGFB activating pathway. '), ('8618', 'VEGFR2_RET', '', 'VEGFR2', 'RET', '26126987', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Fragment-Based Discovery of a Dual pan-RET/VEGFR2 Kinase Inhibitor Optimized for Single-Agent Polypharmacology.. '), ('8619', 'UFD2_UBE4B', '', 'UFD2', 'UBE4B', '12700669', '12', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'Also, the expression of UBE4B/UFD2 was markedly diminished in the high-stage/poor-outcome tumors as compared to the low-stage/favorable-outcome tumors.     ///    most interestingly being a splice site mutation that was detected in UBE4B/UFD2 in a stage 3 NBL with a fatal outcome.     ///    \"We have screened seven genes known to reside in or very close to this overlap consensus region, UBE4B/UFD2, KIF1B, DFFA, PGD, CORT, PEX14, and ICAT, for coding mutations in NBL tumor DNA. \"    ///    mutation and stage-specific expression in UBE4B/UFD2..     ///    \"Given the data presented here, UBE4B/UFD2 stands out as the strongest candidate NBL tumor suppressor gene in the region at this stage.. \"'), ('8620', 'BCR_ABL1', '', 'BCR', 'ABL1', '25675863', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Telomerase activity was significantly lower in Philadelphia chromosome-negative/IKAROS-deleted (BCR-ABL1(-)/IKAROS(del)) cases compared to Philadelphia chromosome-positive (BCR-ABL1+) BCP-ALLs. '), ('8621', 'TIMP3_MMP1', '', 'TIMP3', 'MMP1', '26055925', '12', 'rheumatoid arthritis;arthritis\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Pam3CSK4 significantly induced cell migration, invasion, MMP-1, MMP-3, MMP-2 and MMP-9 expression and induced the MMP-1/TIMP-3 and MMP-3/TIMP-3 ratio in RASFC and explants (p <0.05). '), ('8622', 'TIMP3_MMP3', '', 'TIMP3', 'MMP3', '26055925', '12', 'rheumatoid arthritis;arthritis\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Pam3CSK4 significantly induced cell migration, invasion, MMP-1, MMP-3, MMP-2 and MMP-9 expression and induced the MMP-1/TIMP-3 and MMP-3/TIMP-3 ratio in RASFC and explants (p <0.05). '), ('8623', 'MEK_ERK', '', 'MEK', 'ERK', '25149325', '12', '', '', '', '', '', '', '', '', '', 'Our data suggest a model in which (i) the Hydra FGFR targets, via an unknown pathway, the actin cytoskeleton to induce a constriction and (ii) FGFR activates MEK/ERK signaling at the late separation site to allow tissue separation. '), ('8624', 'CALM_AF10', '', 'CALM', 'AF10', '24385720', '12', 'T ALL\r\r', 'PCR', '', '', '', '', '', '', '', 'In order to gain insight into the pathogenesis of T-ALLthis study aimed to measure the level of expression of 7 T-cell oncogenes (LMO2, LYL1, TAL1, TLX1, TLX3, BMI1, andCALM-AF10) in pediatric T-ALL patients Material and Methods: LMO2, LYL1, TLX1, TLX3, BMI1, TAL1, and CALM-AF10 expression was measured usingquantitative real-time PCR in 43 pediatric T-ALL patients. '), ('8625', 'CXCR7_CXCR4', '', 'CXCR7', 'CXCR4', '19380869', '12', '', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Varying CXCR7 expression levels and blocking CXCL12/CXCR7 interactions in primary T cells suggest that CXCR4/CXCR7 heterodimers form in primary lymphocytes and regulate CXCL12-promoted chemotaxis.     ///    \"Taken together, these results identify CXCR4/CXCR7 heterodimers as distinct functional units with novel properties, which can contribute to the functional plasticity of CXCL12.. \"    ///    \"Moreover, when CXCR4 and CXCR7 are coexpressed, we show that receptor heterodimers form as efficiently as receptor homodimers, thus opening the possibility that CXCR4/CXCR7 heterodimer formation has consequences on CXCL12-mediated signals. \"'), ('8626', 'EIF4G_EIF4E', '', 'EIF4G', 'EIF4E', '25049413', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Thus, inhibiting the eIF4E/eIF4G interaction has emerged as a previously unpursued route for developing anticancer agents.     ///    \"Indeed, we discovered small-molecule inhibitors of this eIF4E/eIF4G interaction (4EGIs) that inhibit translation initiation both in vitro and in vivo and were used successfully in numerous cancer-biology and neurobiology studies. \"    ///    \"Here, we show that the eIF4E/eIF4G inhibitor 4EGI-1 acts allosterically by binding to a site on eIF4E distant from the eIF4G binding epitope. \"'), ('8627', 'MET_ALK', '', 'MET', 'ALK', '24419060', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ASP3026 inhibited ALK activity in an ATP-competitive manner and had an inhibitory spectrum that differed from that of crizotinib, a dual ALK/MET inhibitor. '), ('8628', 'GLUA2_GLUA1', '', 'GLUA2', 'GLUA1', '24431456', '12', '', '', '', '', '', '', '', '', '', 'In electrophysiological recordings, BzF incorporation allowed selective and potent UV-driven photoinactivation of both homomeric (GluA2) and heteromeric (GluA2:GluA1) AMPA receptors. '), ('8629', 'FLI_EWS', '', 'FLI', 'EWS', '7524604', '12', 'ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We have analysed tumour-derived material from 30 ET patients with well-documented clinical course (18 with localised and 12 with metastatic disease at diagnosis) for the presence of EWS/FLI-1 or EWS/ERG RNA.     ///    \"In this study, EWS/FLI-1 exon combinations 7/6 (type I) predominated over 7/5 (type II) in localised ET (14 versus 1) and were more abundant in tumours affecting the long bones (9 versus 0), whereas in central axis tumours and metastatic disease there was only little difference in the frequency of the two types. \"    ///    \"In addition, EWS/FLI-1 exon combinations 10/5 and 9/4 were observed in one case each. \"'), ('8630', 'RET_GFRA1', '', 'RET', 'GFRA1', '18089803', '12', 'breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A role for glial cell derived neurotrophic factor induced expression by inflammatory cytokines and RET/GFR alpha 1 receptor up-regulation in breast cancer.. '), ('8631', 'MMP3_TIMP1', '', 'MMP3', 'TIMP1', '17050530', '12', '', '', '', '', '', '', '', '', '', 'Comparison with the previously reported structure of the TIMP-1/stromelysin-1 (MMP-3) complex shows that the mechanisms of inhibition of both MMPs are generally similar, yet there are significant differences in the protein-protein interfaces in the two complexes. '), ('8632', 'DC_CD1A', '', 'DC', 'CD1A', '8045037', '12', 'non Hodgkin Lymphoma;pseudolymphoma', '', '', '', '', '', '', '', '', 'Recently, a possible implication of DD (resident, perivascular factor XIIIa+/CD1a- DC) in the pathogenesis of MF has been also suggested. '), ('8633', 'IL4_IL2', '', 'IL4', 'IL2', '16034095', '12', '', '', '', '', '', '', '', '', '', ' We have recently described an IL-2/IL-4-producing CD8+CD25+ non-regulatory memory T cell population that occurs in a subgroup of healthy elderly persons who characteristically still have a good humoral response after vaccination. '), ('8634', 'NTRK1_NGFR', '', 'NTRK1', 'NGFR', '19883730', '12', '', '', 'Kinase', '', '', '', '', '', '', 'they arise from the fusion of the 3\' terminal sequences of the NTRK1/NGF receptor gene with 5\' terminal sequences of various activating genes, such as TPM3, TPR and TFG. '), ('8635', 'RET_PTC', '', 'RET', 'PTC', '24915144', '12', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.. '), ('8636', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '17940488', '12', 'hypereosinophilic syndrome\r\r', '', 'Kinase', '', '', '', '', '', '', 'If standard therapies fail, the FIP1L1- platelet-derived growth factor receptor-negative cases of hypereosinophilic syndrome should also be considered for treatment with imatinib. '), ('8637', 'CD18_CD11A', '', 'CD18', 'CD11A', '19262176', '12', '', '', '', '', '', '', '', '', '', 'Cathepsin X activates also the other beta(2) integrin receptor, LFA-1 (CD11a/CD18) which is involved in the proliferation of T lymphocytes. '), ('8638', 'RAD50_MRE11', '', 'RAD50', 'MRE11', '16285919', '12', '', '', '', '', '', '', '', '', '', 'We show that purified, recombinant MRE11/RAD50 can cleave DNA at AP sites and that this AP-lyase activity is conserved from humans to Archaea.     ///    MRE11/RAD50 cleaves DNA in the AID/UNG-dependent pathway of immunoglobulin gene diversification..     ///    \"MRE11/RAD50 cleaves at AP sites within single-stranded regions of DNA, suggesting that at transcribed Ig genes, cleavage may be coordinated with deamination by AID and deglycosylation by UNG2 to produce single-strand breaks (SSBs) that undergo subsequent mutagenic repair and recombination. \"'), ('8639', 'TAL_SIL', '', 'TAL', 'SIL', '15054041', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'HOX11 and SIL-TAL represent alphabeta-lineage oncogenes, whereas HOX11L2 expression identifies an intermediate alphabeta/gammadelta-lineage stage of maturation arrest. '), ('8640', 'SP3_SP2', '', 'SP3', 'SP2', '16771488', '12', '', '', '', '', '', '', '', '', '', 'Subsequent chemical modification leads to the observation of crystalline carbons, including nanocrystalline diamond surrounded by graphene ribbons, other sp2-sp3 transition regions, purely graphitic regions, and a previously unidentified crystalline carbon form surrounded by amorphous carbon. '), ('8641', 'ICAD_CAD', '', 'ICAD', 'CAD', '16204257', '12', '', '', 'Kinase', '', '', '', '', '', '', 'In contrast, the CIDE-N domain of ICAD is required for CAD/ICAD association.     ///    The DNA fragmentation factor (DFF) is composed of the 40-kDa CAD (DFF40) in complex with its cognate 45-kDa inhibitor (inhibitor of CAD: ICAD or DFF45).     ///    \"Whereas the inactive DFF is thought to consist of the CAD/ICAD heterodimer, activated CAD has been isolated as a large (>MDa) multimer, as well as a monomer. \"'), ('8642', 'MEK_ERK', '', 'MEK', 'ERK', '9712920', '12', '', '', '', '', '', '', '', '', '', 'The mitogen-activated protein kinase/extracellular signal-regulated kinase-kinase (MEK) inhibitor PD98059 abolished this phosphorylation, demonstrating that stathmin is targeted by BXB-ER via the MEK/ERK pathway. '), ('8643', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '24830619', '12', 'thyroid nodule;papillary carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'RAS or PAX8-PPARG were present in 23% of adenomas, and NRAS was found in a single nonneoplastic lesion (P = .0014). '), ('8644', 'RET_PTC', '', 'RET', 'PTC', '12095936', '12', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The different activating mutations not only potentiate the enzymatic activity of the RET kinase but also may alter qualitatively RET signaling properties by: (1) altering RET autophosphorylation (in the case of the MEN2B mutation), (2) modifying the subcellular distribution of the active kinase, and (3) providing the active kinase with a scaffold for novel protein-protein interactions (as in the case of RET/PTC oncoproteins).     ///    These rearrangements generate the chimeric RET/PTC oncogenes. '), ('8645', 'UNG_AID', '', 'UNG', 'AID', '16285919', '12', '', '', '', '', '', '', '', '', '', 'MRE11/RAD50 cleaves DNA in the AID/UNG-dependent pathway of immunoglobulin gene diversification.. '), ('8646', 'SAPK_JNK', '', 'SAPK', 'JNK', '9916993', '12', '', '', '', '', '', '', '', '', '', 'c-Abl also functions as an upstream effector of the proapoptotic JNK/SAPK and p38 MAPK pathways. '), ('8647', 'USP16_RUNX1', '', 'USP16', 'RUNX1', '18925961', '12', 'myeloproliferative disorder;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The latter included a new cryptic USP16-RUNX1 fusion. '), ('8648', 'EC1_CLC', '', 'EC1', 'CLC', '18093952', '12', '', '', '', '', '', '', '', '', '', 'We designed various cysteine substitution mutants on a cysteine-less background of CLC-ec1, a bacterial CLC exchanger of known structure, with the aim of covalently linking the subunits. '), ('8649', 'CSF1R_CSF1', '', 'CSF1R', 'CSF1', '22153499', '12', '', '', 'Kinase', '', '', '', '', '', '', 'Comparative structural and binding studies aiming to dissect the assembly principles of human and mouse CSF-1R complexes, including a quantification of the CSF-1/CSF-1R species cross-reactivity, show that bivalent cytokine binding to receptor coupled to ensuing receptor-receptor interactions are common denominators in extracellular complex formation..     ///    \"Here, we report a structural and mechanistic consensus for the assembly of human and mouse CSF-1:CSF-1R complexes. \"    ///    The EM structure of the complete extracellular assembly of the human CSF-1:CSF-1R complex reveals how receptor dimerization by CSF-1 invokes a ternary complex featuring extensive homotypic receptor contacts and striking structural plasticity at the extremities of the complex. '), ('8650', 'TS_DHFR', '', 'TS', 'DHFR', '2768255', '12', '', '', '', '', '', '', '', '', '', 'The primaquine- and terbinafine-selected lines exhibited wild-type levels of dihydrofolate reductase-thymidylate synthase and normal uptake and accumulation of MTX, and the MTX resistance of these lines was not reversed by verapamil. '), ('8651', 'RET_PTC', '', 'RET', 'PTC', '17062879', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC activation in papillary thyroid carcinoma: European Journal of Endocrinology Prize Lecture..     ///    \"In this review, we examine the data about the mechanisms of thyroid cell transformation, activation of downstream signal transduction pathways and modulation of gene expression induced by RET/PTC. \"'), ('8652', 'P75_NGR', '', 'P75', 'NGR', '19376068', '12', '', '', '', '', '', '', '', '', '', 'Mutation of Cys(257) abolished neurotrophin-dependent receptor activity but did not affect downstream signaling by the p75(NTR)/NgR/Lingo-1 complex in response to MAG, indicating the existence of distinct, ligand-specific activation mechanisms for p75(NTR). '), ('8653', 'RLC_ATAD5', '', 'RLC', 'ATAD5', '23907118', '12', '', '', '', '', '', '', '', '', '', 'In this Review, we summarize the evidence that Elg1/ATAD5-RLC acts as a PCNA unloader and discuss the still enigmatic relationship between the function of Elg1/ATAD5-RLC in PCNA unloading and the role of Elg1/ATAD5 in maintaining genomic stability.     ///    \"The fundamental molecular function of the Elg1/ATAD5-replication factor C-like complex (RLC) was, until recently, elusive, although Elg1/ATAD5-RLC was known to interact with the replication sliding clamp PCNA. \"    ///    \"Two papers have now reported that following DNA replication, the Elg1/ATAD5-RLC is required to remove PCNA from chromatin in yeast and human cells. \"'), ('8654', 'MYH7_APE1', '', 'MYH7', 'APE1', '10485134', '12', '', '', '', '', '', '', '', '', '', 'Gene assignment in the spider monkey (Ateles paniscus chamek--APC): APE-MYH7 to 2q. '), ('8655', 'RET_PTC1', '', 'RET', 'PTC1', '10675479', '12', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 is one of the most frequently found RET/PTC version and, in all the cases so far reported, it is invariably generated by the fusion of the first encoding exon of the H4 gene to the RET kinase encoding domain.     ///    \"its transforming ability, however, is 5-fold lower than that of the classic RET/PTC1 isoform. \"    ///     RET/PTC chimeric oncogenes are generated by the fusion of heterologous genes to the RET tyrosine kinase encoding domain. '), ('8656', 'IL2R_IL2', '', 'IL2R', 'IL2', '7981152', '12', '', '', '', '', '', '', '', '', '', ' The IL-2/IL-2 receptor (IL-2R) has been studied intensively because of its potential function in the development and regulation of the immune system. '), ('8657', 'MLL_ENL', '', 'MLL', 'ENL', '19995953', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Fusion genes were absent in BM-MSCs of childhood leukemias carrying TEL-AML1, BCR-ABL, AML1-ETO, MLL-AF9, MLL-AF10, MLL-ENL or hyperdiploidy. '), ('8658', 'CCND3_CDK6', '', 'CCND3', 'CDK6', '12592386', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among the kinase-D-type cyclin combinations, the Cdk6-cyclin-D3 complex has a unique ability to evade inhibition by cyclin-dependent kinase inhibitors and thereby control the cell\'s proliferative competence under growth-suppressive conditions.     ///    Overexpression of Cdk6-cyclin D3 highly sensitizes cells to physical and chemical transformation.. '), ('8659', 'THP_COP', '', 'THP', 'COP', '12774929', '12', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The patient received THP-COP chemotherapy (pirarubicin, cyclophosphamide, vincristine, and prednisolone) and radiotherapy, achieved complete remission, and was free of disease for 16 months after treatment. '), ('8660', 'RET_PTC1', '', 'RET', 'PTC1', '16203990', '12', 'follicular thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'These results, demonstrating that the RET/PTC1 oncogene activates a proinflammatory program, provide a direct link between a transforming human oncogene, inflammation, and malignant behavior..     ///    \"Selected relevant genes (CCL20, CCL2, CXCL8, CXCR4, L-selectin, GM-CSF, IL1B, MMP9, UPA, and SPP1/OPN) were found up-regulated also in clinical samples of PTC, particularly those characterized by RET/PTC activation, local extrathyroid spread, and lymph node metastases, when compared with normal thyroid tissue or follicular thyroid carcinoma. \"    ///    Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogene..     ///    \"Here, we show that the RET/PTC1 oncogene, when exogenously expressed in primary normal human thyrocytes, induces the expression of a large set of genes involved in inflammation and tumor invasion, including those encoding chemokines (CCL2, CCL20, CXCL8, and CXCL12), chemokine receptors (CXCR4), cytokines (IL1B, CSF-1, GM-CSF, and G-CSF), matrix-degrading enzymes (metalloproteases and urokinase-type plasminogen activator and its receptor), and adhesion molecules (L-selectin). \"    ///    This effect is strictly dependent on the presence of the RET/PTC1 Tyr-451 (corresponding to RET Tyr-1062 multidocking site). '), ('8661', 'PLA_MAPK14', '', 'PLA', 'MAPK14', '18000612', '12', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Important intracellular mediators and pathways activated by leptin downstream of JAK2 were found to include phosphatidylinositol-3 kinase, phospholipase Cgamma2 and protein kinase C, as well as the p38 MAP kinase-phospholipase A(2) axis. '), ('8662', 'EML4_ALK', 'inv(2)(p21p23) / ', 'EML4', 'ALK', '25337876', '12', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK oncogene is detected in a subset of human non-small cell lung cancers (NSCLC) and is clinically relevant because it confers sensitivity to ALK inhibitors. '), ('8663', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '23599146', '12', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Immunohistologic studies showed the expression of CD10 (91%), BCL6 (97%), BCL2 (95%), MUM1/IRF4 (12%), MDM2 (17%), and CD23 (25%). '), ('8664', 'PTD_MLL', '', 'PTD', 'MLL', '22915647', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '(4) unfavorable: MLL-PTD and/or RUNX1 mutation and/or ASXL1 mutation (n = 203.     ///    \"One thousand patients with cytogenetic data were investigated for the following molecular alterations: PML-RARA, RUNX1-RUNX1T1, CBFB-MYH11, FLT3-ITD, and MLL-PTD, as well as mutations in NPM1, CEPBA, RUNX1, ASXL1, and TP53. \"'), ('8665', 'P16_CDK6', '', 'P16', 'CDK6', '16354836', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'For four complexes, LIR-1/HLA-A2, Actin/DNase I, CDK2/cyclin, and CDK6/p16(INK4a), the motions calculated for the monomer exhibiting the largest conformational change, in its unbound (free) form, correlate with the experimentally observed structural changes upon binding. '), ('8666', 'MAD2_MAD1', '', 'MAD2', 'MAD1', '18022368', '12', '', '', '', '', '', '', '', '', '', 'In mitosis, a Mad1-Mad2 core complex recruits cytosolic Mad2 to kinetochores through Mad2 dimerization and converts Mad2 to a conformer amenable to Cdc20 binding, thereby facilitating checkpoint activation. '), ('8667', 'TRNC_GCA', '', 'TRNC', 'GCA', '15917497', '12', '', '', '', '', '', '', '', '', '', 'One end point of the smaller inversion is upstream of the trnE-UUC gene, and the other end point is located between the trnC-GCA and rpoB genes. '), ('8668', 'CFL1_ADF', '', 'CFL1', 'ADF', '14598374', '12', '', '', '', '', '', '', '', '', '', 'This particular review will address changes in the actin cytoskeleton modulated by the family of actin dynamizing proteins known as actin depolymerizing factor (ADF)/cofilin or AC proteins. '), ('8669', 'CD57_BCL6', '', 'CD57', 'BCL6', '21501301', '12', 'T cell lymphoma;follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The lymphoma cells were CD3(+) CD4(+) CD5(+) CD8(-) CD10(+) CD56(-) CD57(-) BCL6(+) PD-1(+) CXCL13(+) and were associated with a meshwork of CD21(+) follicular dendritic cells. '), ('8670', 'SCF_MP2', '', 'SCF', 'MP2', '7630883', '12', '', '', '', '', '', '', '', '', '', 'We have performed ab initio SCF/MP2 calculations on a relatively small portion of the active site of DLH to examine the details of this activation process. '), ('8671', 'VCFS_DGS', '', 'VCFS', 'DGS', '22796526', '12', 'velocardiofacial syndrome\r\r', '', '', '', '', '', '', '', '', 'The duplicated region encompasses 14 genes, excluding TBX1 but including CRKL, ZNF74, PIK4CA, SNAP29 and PCQAP known to contribute to several aspects of the DGS/VCFS phenotype.     ///    \"We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. \"'), ('8672', 'P13_P12', '', 'P13', 'P12', '1732748', '12', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Importantly, the human gene maps to chromosome 12 region p12-p13. '), ('8673', 'DAZ4_DAZ1', '', 'DAZ4', 'DAZ1', '21852246', '12', 'azoospermia', '', '', '', '', '', '', '', '', 'DAZ is a multi-copy AZFc gene (DAZ1-DAZ4) implicated in spermatogenesis. '), ('8674', 'CD27_CCR6', '', 'CD27', 'CCR6', '25765849', '12', '', '', '', '', '', 'Receptor', '', '', '', 'This sequence is infrequent in CCR6(-)CD27(+) cells, but abundant among CCR6(+)CD27(-) ?? T cells. '), ('8675', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '22915647', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '(2) favorable: RUNX1-RUNX1T1 (n = 35), CBFB-MYH11 (n = 31), or NPM1 mutation without FLT3-ITD (n = 186.     ///    \"One thousand patients with cytogenetic data were investigated for the following molecular alterations: PML-RARA, RUNX1-RUNX1T1, CBFB-MYH11, FLT3-ITD, and MLL-PTD, as well as mutations in NPM1, CEPBA, RUNX1, ASXL1, and TP53. \"'), ('8676', 'HNC_HCN', '', 'HNC', 'HCN', '24832217', '12', '', '', '', '', '', '', '', '', '', ' The efficient formation of HCN/HNC from formamide (FM) combining the advantages of water-assistance, self-catalyzed reactions, and the mineral surfaces was investigated. '), ('8677', 'RECQ5_RAD51', '', 'RECQ5', 'RAD51', '20348101', '12', '', '', '', '', '', '', '', '', '', 'Moreover, we show that ablation of RECQ5-RAD51 complex formation by a point mutation alleviates the inhibitory effect of RECQ5 on HR-mediated DSB repair. '), ('8678', 'PRB_P130', '', 'PRB', 'P130', '7923196', '12', 'retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'Furthermore, we were able to dissect distinct properties of the Rb family by demonstrating that p130/pRb2 inhibits proliferation of the glioblastoma cell line T98G, which is resistant to the growth suppressive effects of both pRb and p107.     ///    p130/pRb2 has growth suppressive properties similar to yet distinctive from those of retinoblastoma family members pRb and p107.. '), ('8679', 'CD25_CD23', '', 'CD25', 'CD23', '15168448', '12', 'leukemia;lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'Atypical lymphocytes expressed CD5- CD10- CD11c+ CD19+ CD20+ CD23- CD25- on the surface of the cells on examination by with a fluorescence activated cell sorter. '), ('8680', 'APOA2_DNS', '', 'APOA2', 'DNS', '10588955', '12', '', '', '', '', '', '', '', '', '', 'The binding kinetics of apoA-I-DNS to A-II-POPCrHDL and of apoA-II-DNS to A-I-POPCrHDL were monitored by fluorescence polarization, adding the lipid-free apolipoproteins to the rHDL particles in a 1:1 molar ratio. '), ('8681', 'VEGFR_EGFR', '', 'VEGFR', 'EGFR', '22608542', '12', 'prostate cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'The use of high-dose vandetanib alone may warrant further investigation in patients with docetaxel-resistant AIPC overexpressing VEGFR/EGFR pathways..     ///    \"Importantly, tumor analyses revealed overexpression of the EGFR/VEGFR pathways in PC3R relative to PC3wt. \"'), ('8682', 'F10_F9', '', 'F10', 'F9', '20830601', '12', '', '', '', '', '', '', '', '', '', ' Coagulation factor IX/coagulation factor X binding protein from the venom of Agkistrodon halys Pallas (AHP IX/X-bp) is a unique coagulation factor IX/coagulation factor X binding protein (IX/X-bp). '), ('8683', 'CCND1_CD23', '', 'CCND1', 'CD23', '23928529', '12', 'B cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Immunohistochemical study showed the following results: CD20(+) PAX5(+) CD3(-) CD5(-) CD10(-) cyclin D1(-) CD23(-) CD43(-) Annexin A1(-) CD11C(-) CD25(-) in all the 22 cases, CD38(+) in 2 cases (9.1%) and CD138(+) in 2 cases (9.1%). '), ('8684', 'ATR_ATM', '', 'ATR', 'ATM', '23096362', '12', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'The checkpoint ATM/ATR kinases are involved in DSB repair, since the recorded frequency of CAs increased when both kinases were caffeine-abrogated. '), ('8685', 'KU80_KU70', '', 'KU80', 'KU70', '17387012', '12', '', '', '', '', '', '', '', '', '', 'Recent electron microscopy studies have revealed that the association of DNA-PKcs with Ku70/Ku80 and DNA during non-homologous end joining induces conformational changes that activate the kinase and direct the formation of a synaptic complex. '), ('8686', 'P56_CD4', '', 'P56', 'CD4', '24972704', '12', '', '', '', '', '', '', '', '', '', 'Type II PtdIns 4-kinase ? associates with CD4-p56lck complex and is involved in CD4 receptor signaling.. '), ('8687', 'STK32B_EVC', '', 'STK32B', 'EVC', '18454448', '12', 'Ellis-van Creveld syndrome', '', 'Kinase', '', '', '', '', '', '', 'Further, the phenotype of these patients suggests that the EVC-STK32B deletion also leads to mild mental retardation and reveals that loss of the novel genes C4orf6 and STK32B causes at most mild mental deficit. '), ('8688', 'PP2A_PP1', '', 'PP2A', 'PP1', '18632620', '12', 'breast cancer', '', '', '', '', '', '', '', '', 'Disruption of vimentin with PP1/PP2A-specific inhibitors significantly reduced microtentacles and inhibited cell reattachment to extracellular matrix. '), ('8689', 'TPR_MET', '', 'TPR', 'MET', '10435641', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' TPR-MET, a transforming counterpart of the c-MET proto-oncogene detected in experimental and human cancer, results from fusion of the MET kinase domain with a dimerization motif encoded by TPR.     ///    These data indicate that the presence of the juxtamembrane domain counterbalances the Tpr-Met transforming potential and therefore the loss of the exon encoding the juxtamembrane domain is crucial in the generation of the active TPR-MET oncogene..     ///    Loss of the exon encoding the juxtamembrane domain is essential for the oncogenic activation of TPR-MET.. '), ('8690', 'DAZ2_DAZ1', '', 'DAZ2', 'DAZ1', '20039973', '12', 'azoospermia\r\r', '', '', '', '', '', '', '', '', 'This study provided further evidence for the existence of multiple subtypes of gr/gr deletion and indicates that gr/gr-DAZ1/DAZ2 deletion is a significant risk factor. '), ('8691', 'CYP21A2_CYP21A1P', '', 'CYP21A2', 'CYP21A1P', '19263525', '12', 'congenital adrenal hyperplasia', '', '', '', '', '', '', '', '', 'MLPA analysis represents a simple, rapid and sensitive tool for the detection of CYP21A2/CYP21A1P deletions/duplications in CAH molecular diagnosis. '), ('8692', 'MEK_ERK', '', 'MEK', 'ERK', '23703692', '12', '', '', '', '', '', '', '', '', '', 'Explaining the signaling effect of SCF on DP migration, PI3K/Akt and MEK/ERK pathway inhibitors were demonstrated to significantly reduce DP cell migration, while SCF alone doubled the number of migrated cells. '), ('8693', 'ZFR2_MATK', '', 'ZFR2', 'MATK', '24094746', '12', '', '', 'Kinase', '', '', '', '', '', '', 'On the basis of the expression profile of the MATK promoter, MATK-ZFR2 is likely to be far more highly expressed in the brain during development than the ZFR2 parent gene.     ///    MATK-ZFR2 includes a ZFR2-derived isoform that we demonstrate localizes preferentially to neuronal dendritic branch sites. '), ('8694', 'NADPH_FAD', '', 'NADPH', 'FAD', '24737326', '12', '', '', '', '', '', '', '', '', '', 'Our three-dimensional reconstruction of the intact nNOS-CaM complex reveals a closed conformation and a cross-monomer arrangement with the FMN domain rotated away from the NADPH-FAD center, toward the oxygenase dimer. '), ('8695', 'CD45_CD31', '', 'CD45', 'CD31', '22491213', '12', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Differentiation and sorting assays show that endogenous SCL expression parallels hematopoietic specification of hESCs and that SCL is specifically expressed in hematoendothelial progenitors (CD45(-)CD31(+)CD34(+)) and, to a lesser extent, on CD45(+) hematopoietic cells. '), ('8696', 'C17_C11', '', 'C17', 'C11', '25096282', '12', '', '', '', '', '', '', '', '', '', ' The half structure of the symmetrical macrodiolide aplasmomycin A was synthesized by alkylation of a C3-C10 ?-sulfonyl ketone subunit, prepared from (R)-pulegone and protected as a C3 ortholactone with (2R,3R)-butanediol, by a protected 15,16-dihydroxy (12E)-allylic chloride representing C11-C17. '), ('8697', 'EML4_ALK', '', 'EML4', 'ALK', '20952506', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In support of a functional reliance, treatment with geldanamycin-based HSP90 inhibitors resulted in rapid degradation of EML4-ALK in vitro and substantial, albeit transient, tumor regression in vivo.     ///    We identified EML4-ALK in complex with multiple cellular chaperones including HSP90.     ///    \"Inhibition of ALK, PI3K/MEK, and HSP90 in murine lung adenocarcinoma induced by EML4-ALK fusion oncogene.. \"    ///    \"To evaluate potential treatment strategies for lung cancers driven by an activated EML4-ALK chimeric oncogene, we generated a genetically engineered mouse model that phenocopies the human disease where this rearranged gene arises. \"'), ('8698', 'NKP30_NCR3LG1', '', 'NKP30', 'NCR3LG1', '26582946', '12', 'atopic dermatitis', '', '', '', '', '', '', '', '', 'NKp30-B7-H6 interaction is a novel cell contact mechanism that mediates activation of ILC2 and identifies a potential target for the development of novel therapeutics for atopic dermatitis and other atopic diseases. '), ('8699', 'EWS_ERG', '', 'EWS', 'ERG', '17700534', '12', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'siRNA targeting EWS-Fli1 attenuated fenretinide-induced cell death in cell lines expressing EWS-Fli1, but not EWS-ERG. '), ('8700', 'PSI4RAC1_PSI1RAC1', '', 'PSI4RAC1', 'PSI1RAC1', '15474301', '12', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Isolation and characterization of Rac1 pseudogenes (psi1Rac1-psi4Rac1) in the human genome..     ///    \"In addition, three other intronless pseudogenes of Rac1 on chromosomes 4, 13 and X were identified (psi1Rac1-psi4Rac1) sharing an 86-96% sequence similarity with Rac1. \"'), ('8701', 'MLL_ENL', '', 'MLL', 'ENL', '19155294', '12', 'leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'We performed a serial analysis of gene expression in both human and murine MLL-ELL or MLL-ENL leukemia cells and identified 88 genes that seemed to be significantly deregulated in both types of leukemia cells, including 57 genes not reported previously as being deregulated in MLL-associated leukemias. '), ('8702', 'FUS_CHOP', '', 'FUS', 'CHOP', '16959485', '12', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This translocation results in FUS/CHOP fusion transcripts with a corresponding oncogenic protein.     ///    \"Finally, PTX3 expression was not related to presence of a FUS/CHOP fusion transcript within the liposarcoma tissues. \"    ///    We hypothesised that genes downstream of FUS/CHOP might serve as attractive candidates for novel tumour associated antigens. '), ('8703', 'IL6_IL10', '', 'IL6', 'IL10', '19585355', '12', 'lymphoma', '', '', '', '', '', '', '', '', 'The level of IL-10 with an IL-10/IL-6 ratio > 1 was significantly higher in all eyes with IOL. '), ('8704', 'SND1_BRAF', '', 'SND1', 'BRAF', '22745804', '12', 'gastric cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In the resistant clones, hyperactivation of the downstream MAPK pathway via SND1-BRAF conferred resistance to c-Met receptor tyrosine kinase inhibition. '), ('8705', 'C11_C10', '', 'C11', 'C10', '12889871', '12', '', '', '', '', '', '', '', '', '', ' [reaction: see text] Intramolecular 1,3-dipolar cycloadditions of cinchona azides to the C10-C11 alkyne and C10-C11 olefin unit of the alkaloid have been designed via tandem strategy. '), ('8706', 'LRP2_LRP', '', 'LRP2', 'LRP', '9541543', '12', '', '', '', '', '', '', '', '', '', 'Similarly, the LRP/megalins did not arise from the duplication of a two-cluster insect VgR/YPR-like progenitor.     ///    \"This analysis also revealed that the eight-module clusters in vertebrate VgRs, insect VgR/YPRs, and LRP/megalins are not directly homologous with one another. \"'), ('8707', 'LHB_CGB', '', 'LHB', 'CGB', '18606016', '12', '', '', '', '', '', '', '', '', '', 'Despite the high sequence identity among LHB/CGB genes, there are signs of functional differentiation among the gene copies.     ///    \"Across the orthologous regions of LHB/CGB cluster, substitutions and indels contributed approximately equally to the interspecies divergence and the distribution of nucleotide identity was correlated with the regional repeat content. \"    ///    \"We shotgun sequenced and compared the human (45,165 bp) and chimpanzee (39,876 bp) LHB/CGB regions and hereby present evidence for structural variation resulting in discordant number of CGB genes (6 in human, 5 in chimpanzee). \"    ///    Intraspecies gene conversion may have shaped the LHB/CGB gene cluster. '), ('8708', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '12897800', '12', '', '', '', '', '', '', '', '', '', 'Specific methylation within the heptamer of the recombination signal sequences (RSS) markedly reduced V(D)J cleavage without inhibiting RAG1/RAG2-DNA complex formation.     ///    \"In this study, we tested whether DNA methylation directly affects the reactivity of the RAG1/RAG2 complex. \"    ///    The presence of a methyl-CpG binding-domain protein inhibited the binding of the RAG1/RAG2 complex to all the methylated CpG sites that were tested.     ///    Effect of CpG methylation on RAG1/RAG2 reactivity: implications of direct and indirect mechanisms for controlling V(D)J cleavage.. '), ('8709', 'SRI_RYR2', '', 'SRI', 'RYR2', '17029407', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Ca(2+) spark activity of isolated heart cells monitors the sorcin-RyR2 interaction and is unaltered by W105G but is reduced equally by W99G and the wild type. '), ('8710', 'RET_PTC', '', 'RET', 'PTC', '24570192', '12', 'thyroid nodule;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PAX8/PPARG was detected in 2 MFP samples, while RET/PTC was detected in only one MFP sample. '), ('8711', 'RAGE_AGE', '', 'RAGE', 'AGE', '9722686', '12', 'alveolar bone loss;periodontal disease', '', '', '', '', '', '', '', '', 'One consequence of AGE-RAGE interaction is the generation of enhanced cellular oxidant stress, a means by which cell signaling pathways may be activated, thereby resulting in altered cellular phenotype and cellular dysfunction. '), ('8712', 'RAC1_CDC42', '', 'RAC1', 'CDC42', '15611136', '12', '', '', '', '', '', '', '', '', '', 'We have shown previously that alphaPIX (Cool-2 or ARHGEF6), a Rac1/Cdc42-specific guanine nucleotide exchange factor (GEF), binds to beta-parvin/affixin and colocalizes with integrin-linked kinase in actively spreading cells, suggesting that alphaPIX is involved in integrin-induced signaling leading to activation of Rac1/Cdc42. '), ('8713', 'RASIP1_RAP1', '', 'RASIP1', 'RAP1', '23798437', '12', '', '', '', '', '', '', '', '', '', 'Accordingly, the Rap1-Rasip1 complex induces cell spreading by inhibiting Rho signaling. '), ('8714', 'SLC45A3_ELK4', '', 'SLC45A3', 'ELK4', '25188740', '12', 'prostate cancer\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'Although the expression level of SLC45A3-ELK4 is higher in cancer than normal cells, and a dramatic increase in its expression from normal to cancer cells is correlated with advanced disease, its expression level in cancer samples alone is not correlated with any clinical parameters.     ///    \"In 105 prostate cancer samples and case-matched adjacent nonmalignant tissues, we determined the expression level of USP9Y-TTTY15 and a previously reported transcription-induced chimeric RNA, SLC45A3-ELK4. \"'), ('8715', 'CCNH_CDK2', '', 'CCNH', 'CDK2', '9125522', '12', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'In contrast, nonphosphorylated cdc2-cyclin H, cdk2-cyclin H, and cdk7-cyclin A complexes present a 25-fold lower stability. '), ('8716', 'NTN1_DCC', '', 'NTN1', 'DCC', '26787017', '12', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'However, our previous work also suggests that netrin-1/DCC signalling can activate RhoA in a time- and region-specific manner. '), ('8717', 'CD8_CD4', '', 'CD8', 'CD4', '7755158', '12', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemical studies of the lymphoma cells showed a T-cell phenotype: CD2+ CD3+ CD5+ CD7+ gamma delta-TCR+ alpha beta-TCR- CD56+ CD4- CD8- CD16- CD57-. '), ('8718', 'WDR5_MLL1', '', 'WDR5', 'MLL1', '26958703', '12', 'lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'This allowed us to develop the first highly potent (Kdisp < 100 nM) small molecule antagonists of the WDR5-MLL1 interaction and demonstrate that N-(4-(4-methylpiperazin-1-yl)-3\'-(morpholinomethyl)-[1,1\'-biphenyl]-3-yl)-6-oxo-4-(trifluoromethyl)-1,6-dihydropyridine-3-carboxamide 16d (OICR-9429) is a potent and selective chemical probe suitable to help dissect the biological role of WDR5.     ///    \"Rearrangement of the MLL1 gene is associated with onset and progression of acute myeloid and lymphoblastic leukemias, and targeting the WDR5-MLL1 interaction may result in new cancer therapeutics. \"'), ('8719', 'RAD17_RFC', '', 'RAD17', 'RFC', '12805912', '12', '', '', '', '', '', '', '', '', '', 'The mechanism of the secondary bypass is unclear, but a number of experiments suggests roles for excision repair to remove damage ahead of replication forks, hRad6/18 proteolysis to clear the blocked forks, and the Rad17-RFC and 9-1-1 complexes to establish a new replication apparatus. '), ('8720', 'CCNA_CDK2', '', 'CCNA', 'CDK2', '10411338', '12', 'astrocytoma', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', ' p27/kip1 regulates the G1-S transition of the cell cycle by inhibiting cyclin D-CDK4, cyclin E-CDK2, and cyclin A-CDK2. '), ('8721', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '12551847', '12', '', '', '', '', '', '', '', '', '', 'Cloning of shark RAG2 and characterization of the RAG1/RAG2 gene locus..     ///    \"To help elucidate the origins of the RAG genes, we have cloned the RAG2 gene from the sandbar shark (Carcharhinus plumbeus) and characterized the entire RAG1/RAG2 gene locus. \"'), ('8722', 'BRCA1_BARD1', '', 'BRCA1', 'BARD1', '15485900', '12', 'breast cancer\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Thus, BRCA1/BARD1 has a role in homologous repair before the branch point of HDR and SSA. '), ('8723', 'PNLIP_CIPS', '', 'PNLIP', 'CIPS', '7893686', '12', '', '', '', '', '', '', '', '', '', 'The crystal structure of the pancreatic lipase-colipase complex inhibited by this compound was determined at a resolution of 2.46 A and refined to a final R-factor of 18.3%.     ///    The 2.46 A resolution structure of the pancreatic lipase-colipase complex inhibited by a C11 alkyl phosphonate.. '), ('8724', 'MS2_ESI', '', 'MS2', 'ESI', '15712358', '12', '', '', '', '', '', '', '', '', '', 'A novel methoxy group migration from the carbonyl group to the phosphoryl group was observed in ESI-MS2. '), ('8725', 'AE3_AE1', '', 'AE3', 'AE1', '26768122', '12', 'chondrosarcoma;osteosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'By immunohistochemistry, tumour cells were positive for EMA (5/5), pan CK (AE1/AE3) (3/3), CK5/6 (4/4), CK MNF116 (1/1), S100 protein (5/5) and GFAP (3/5). '), ('8726', 'tubulin_LIS1', '', 'tubulin', 'LIS1', '9384577', '12', 'lissencephaly', '', '', '', '', '', '', '', '', 'LIS1-tubulin interactions were assayed by co-immunoprecipitation and by surface plasmon resonance changes. '), ('8727', 'ATR_ATM', '', 'ATR', 'ATM', '19022408', '12', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Moreover, the damage-signaling kinase ATM and its substrates BLM and BACH1 are not strictly required, but the combined effect of ATM/ATR-signaling components may mediate the anti-recombinogenic effect. '), ('8728', 'P53_MDM2', '', 'P53', 'MDM2', '8781571', '12', 'osteosarcoma;soft tissue sarcoma', '', '', 'Oncogene', '', '', '', '', '', 'Amplification and overexpression of the MDM2 oncogene may lead to increased MDM2-p53 binding resulting in inactivation of p53 function. '), ('8729', 'CD40_CD40', '', 'CD40', 'CD40', '11414747', '12', 'X linked hyper IgM syndrome', '', '', '', '', '', '', '', '', 'The role of CD40-CD40 ligand (CD154) interactions in immunoglobulin light chain repertoire generation and somatic mutation.. '), ('8730', 'CCND1_RB1', '', 'CCND1', 'RB1', '19414372', '12', 'malignant peripheral nerve sheath tumors;neurofibroma', '', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'These cell cycle regulators included those associated with Rb1-cyclin D1 and the p53 pathways. '), ('8731', 'MMP9_WASP', '', 'MMP9', 'WASP', '18337256', '12', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Our investigations indeed demonstrated that invadopodia are comparable to podosomes in the localization of Wiskott-Aldrich syndrome protein (WASP)/matrix metalloproteinase-9 and the degradation of matrix. '), ('8732', 'CD19_BAFF', '', 'CD19', 'BAFF', '25185266', '12', '', '', '', '', '', '', '', '', '', 'Finally, we showed in patients affected with cGVHD a higher B-cell division rate that correlates with an elevated BAFF/CD19(+) B-cell ratio, supporting a B-cell hyperactivation state in vivo. '), ('8733', 'PCSK9_LDLR', '', 'PCSK9', 'LDLR', '19001363', '12', 'familial hypercholesterolemia', '', '', '', '', '', '', '', '', 'Importantly, we found that although the EGF(AB)(H306Y)-PCSK9 interaction is pH-independent, LDLR(H306Y) binds PCSK9 50-fold better at low pH, suggesting that factors other than His-306 contribute to the pH dependence of PCSK9-LDLR binding. '), ('8734', 'TRAILR4_TRAIL', '', 'TRAILR4', 'TRAIL', '18626116', '12', '', '', '', '', '', '', '', '', '', 'Here the authors use homogeneous time-resolved fluorescence (HTRF) in 2 model systems (TRAIL/TRAIL receptor 4 and OX40 ligand/OX40 receptor) and demonstrate that measured K(D) values calculated using the linearized Cheng-Prusoff plot compare favorably with those from independent experiments. '), ('8735', 'TXNIP_TRX', '', 'TXNIP', 'TRX', '24389582', '12', '', '', '', '', '', '', '', '', '', 'Here, we present the crystal structure of the TRX-TXNIP complex and demonstrate that the inhibition of TRX by TXNIP is mediated by an intermolecular disulphide interaction resulting from a novel disulphide bond-switching mechanism. ');
INSERT INTO `ChimerPub_dump` VALUES ('8736', 'SKIP_PPIL1', '', 'SKIP', 'PPIL1', '16595688', '12', '', '', '', '', '', '', '', '', '', 'These results illustrated that a novel cyclophilin-protein contact mode exists in the PPIL1-SKIP complex during activation of the spliceosome. '), ('8737', 'TLX3_HOX11', '', 'TLX3', 'HOX11', '21112032', '12', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'the TAL/LMO, the TLX1/HOX11, the TLX3/HOX11L2 and the HOXA subgroups. '), ('8738', 'TEL_AML1', '', 'TEL', 'AML1', '9260050', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'For example, the TEL-AML1 fusion, the most common genetic abnormality in childhood acute lymphoblastic leukemia, was recently shown to be an independent, favorable prognostic factor, suggesting that patients with this abnormality are best treated with conventional antimetabolite-based therapy. '), ('8739', 'CD19_CD10', '', 'CD19', 'CD10', '7738706', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, in flow cytometric analysis, the tumor cells were found to be CD10- CD19- CD20- CD22- HLA-DR- CD38++ sIg- EMA+, a typical phenotype of plasmacytoma. '), ('8740', 'DRT_DMC', '', 'DRT', 'DMC', '17001311', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, we show that INCENP is recruited to the DRT/DMC chromosomes during all phases of mitosis.     ///    \"Finally, cells with DRT/DMC chromosomes have centrosome amplification, abnormal spindle assembly, endoreduplication and significant chromosome instability.. \"    ///    \"In contrast, Aurora B kinase is absent on DRT/DMC chromosomes when these chromosomes lack serine 10 phosphorylation of H3. \"    ///    \"In this report, we show that chromosomes with DRT/DMC contain phosphorylated Chk1, consistent with activation of the S-M phase checkpoint. \"    ///    \"We also show that mitotic arrest deficient 2 (Mad2), a member of the spindle assembly checkpoint, is present on DRT/DMC chromosomes at a time when the normally condensed chromosomes show no Mad2 staining, indicating that DRT/DMC activates the spindle assembly checkpoint. \"    ///    DRT/DMC chromosomes are common in tumor cells in vitro and in vivo and occur frequently in cells exposed to ionizing radiation. '), ('8741', 'RET_PTC', '', 'RET', 'PTC', '16483615', '12', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'No correlations were found between RET/PTC or Trk oncogenic sequences and patient\'s age, gender, the histopathological variant of PTC and the assignment to particular stage in clinical staging systems (TNM Staging, the University of Chicago clinical class, and Ohio State University Staging). '), ('8742', 'TP53_RB1', '', 'TP53', 'RB1', '19383830', '12', 'thyroid carcinoma;retinoblastoma\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Here, we review the data on the involvement of genes acting in the RET and RB1/TP53 pathways in MTC. '), ('8743', 'CD79B_CD79A', '', 'CD79B', 'CD79A', '16212894', '12', '', '', '', '', '', '', '', '', '', 'The pre-BCR, transiently expressed by developing precursor B cells, comprises the Ig muH chain, surrogate light (SL) chains VpreB and lambda5, as well as the signal-transducing heterodimer Ig alpha/Ig beta. '), ('8744', 'CD8_CD16', '', 'CD8', 'CD16', '7871335', '12', 'arthritis\r\r', '', '', '', '', '', '', '', '', 'The third patient with RA was suffering from a proliferation of TCR1+ (V delta 1+, V gamma 9-) CD4- CD8- CD16- CD56- lymphocytes. '), ('8745', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '18537751', '12', 'gastrointestinal stromal tumor\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The introduction of imatinib mesylate (inhibiting KIT/PDGFRA (platelet-derived growth factor receptor-alpha) and their downstream signaling cascade) has revolutionized the therapy of advanced (inoperable and/or metastatic) GISTs. '), ('8746', 'SDH_COX', '', 'SDH', 'COX', '16278810', '12', '', '', '', '', '', '', '', '', '', 'Doxorubicin-exposed hearts also contained the highest levels of superoxide (p < 0.001, compared to controls), which correlated negatively with the mtDNA-encoded respiratory chain activities, such as the COX/SDH ratio (r = -0.57, p = 0.02) and the NADH/SDH ratio (r = -0.52, p = 0.04), as well as with the mtDNA content (r = -0.69, p = 0.003), and correlated positively with the frequency of the \'common\' deletion (r = 0.76, p < 0.001) and the MDA levels (r = 0.86, p < 0.001).     ///    NADH DH/SDH and COX/SDH ratios were 37% (p < 0.001) and 27% (p < 0.001) of controls.     ///    \"They contained elevated levels of malondialdehyde (MDA) (p = 0.006, compared to controls), which correlated inversely with the COX/SDH ratio (r = -0.45, p = 0.02) and the mtDNA-content (r = -0.75, p = 0.002), and correlated positively with the levels of the \'common\' deletion (r = 0.80, p < 0.001). \"'), ('8747', 'MAPK14_MAPK14', '', 'MAPK14', 'MAPK14', '25046111', '12', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', 'Seq', 'MAPK14/p38?-dependent modulation of glucose metabolism affects ROS levels and autophagy during starvation.. '), ('8748', 'EIF4AIII_CWC22', '', 'EIF4AIII', 'CWC22', '24218557', '12', '', '', '', '', '', '', '', '', '', 'In the CWC22-eIF4AIII complex, the RNA-binding and ATP-binding motifs of the two RecA domains do not face each other, as would be required in the active state, but are in diametrically opposite positions. '), ('8749', 'MLL_FOXO3A', '', 'MLL', 'FOXO3A', '18932267', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'However, at the same time (more than 1 year before the sALL diagnosis) the MLL/FOXO3A was present in up to 90% of BM cells including myeloid lineage, suggesting that the fusion arose in a multipotent progenitor.     ///    \"We demonstrate here a striking sequence of events, which include a covert, protracted preleukemic phase characterized by a dominant MLL/FOXO3A clone with intact myeloid differentiation and the subsequent acquisition of a secondary genetic abnormality, leading to overt lymphoblastic leukemia. \"'), ('8750', 'C35_C32', '', 'C35', 'C32', '15644209', '12', '', '', '', '', '', '', '', '', '', 'Formation of the C32-C35 disulfide bridge leads to a rotation of the side-chain of C32 away from C35 in the reduced form. '), ('8751', 'CD18_CD11B', '', 'CD18', 'CD11B', '10049751', '12', '', '', '', '', '', '', '', '', '', 'FcgammaRIIIb associates with complement receptor 3 (CR3, Mac-1, CD11b/CD18), which may indirectly link FcgammaRIIIb to the actin cytoskeleton. '), ('8752', 'BCL2_IGH', '', 'BCL2', 'IGH', '8616083', '12', 'non Hodgkin lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Expression of the hybrid bcl-2-IgH gene was detected by RT-PCR in five cases of follicular NHL and in one case of HD, but this group of tumours did not display a particular profile of bcl-xL/bcl-xS expression. '), ('8753', 'WT1_EWSR1', '', 'WT1', 'EWSR1', '27180056', '12', 'desmoplastic small round cell tumor', 'FISH;PCR;RT-PCR ', '', '', '', '', '', 'KB', '', 'Three cases (1.5%) revealed the SYT-SSX transcript for Synovial sarcoma, and one (0.5%) a EWSR1-WT1 transcript for Desmoplastic Small Round Cell tumor.     ///    \"All tumors were tested for EWSR1-ETS, EWSR1/WT1, PAX3/7-FOX01 or SYT/SSX transcripts, and the negative tumors were subsequently analyzed for CIC/DUX4, BCOR/CCNB3 and CIC/FOX04 transcripts. \"'), ('8754', 'TCR_CD3', '', 'TCR', 'CD3', '8562511', '12', '', '', '', '', '', '', '', '', '', 'There is now considerable evidence that more immature forms of the TCR-CD3 complex (consisting of either CD3 alone or CD3 associated with a heterodimer of TCR beta and pre-T alpha) can be expressed at the cell surface on early thymocytes. '), ('8755', 'NR2B_NR1', '', 'NR2B', 'NR1', '20164358', '12', '', '', '', '', '', '', '', '', '', 'Molecular dynamics (MD) simulations of the NR1/NR2B and NR1/NR2C agonist binding domain dimer suggest only subtle differences in the interactions of DCS with NR1 binding site residues relative to glycine.     ///    DCS shows partial agonism at NR1/NR2B but has higher relative efficacy than glycine at NR1/NR2C receptor. '), ('8756', 'BRCA1_BARD1', '', 'BRCA1', 'BARD1', '19088202', '12', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Because the enzymatic activity of the BRCA1/BARD1 heterodimer is conserved over a broad phylogenetic range, it is thought to be critical for the central functions of BRCA1. '), ('8757', 'ROS_FIG', '', 'ROS', 'FIG', '12538861', '12', '', '', '', '', '', '', '', '', '', 'The fused protein product FIG-ROS is a potent oncogene, and its transforming potential resides in its ability to interact with and become localized to the Golgi apparatus. '), ('8758', 'CD56_CD16', '', 'CD56', 'CD16', '7871335', '12', 'arthritis\r\r', '', '', '', '', '', '', '', '', 'The third patient with RA was suffering from a proliferation of TCR1+ (V delta 1+, V gamma 9-) CD4- CD8- CD16- CD56- lymphocytes.     ///    \"The second patient with ankylosing spondylitis and RA was suffering from proliferation of TCR1+ (V gamma 9-, V delta 1-), CD2+ CD16- CD56- LGL with low coexpression of CD8. \"'), ('8759', 'CD8_CD4', '', 'CD8', 'CD4', '7794823', '12', '', '', '', '', '', '', '', '', '', 'Over-expression of the CD3 epsilon protein in immature thymocytes mimicked the effects caused by exposure of CD4- CD8- thymocytes to anti-CD3 epsilon treatment: apoptosis and lack of TCR beta expression. '), ('8760', 'TCR_CD3', '', 'TCR', 'CD3', '1334107', '12', '', '', '', '', '', '', '', '', '', 'We describe six additional mutants that do not express TCR/CD3 at the cell surface.     ///    TCR/CD3 expression in these deletion mutants can be restored by transfection of TCR-alpha or TCR-beta DNA.     ///     Mutants of an untransformed T cell clone that no longer respond to TCR/CD3 stimulation have been derived using a selection procedure based on the loss of functional response to Ag. '), ('8761', 'CA3_CA1', '', 'CA3', 'CA1', '16597728', '12', '', '', '', '', '', '', '', '', '', 'Here, we report that, at CA3-CA1 synapses, a Hebbian form of long-term depression (LTD) induced by muscarinic M1 receptor activation (mLTD) is lost after medial septal lesion.     ///    Sympathetic sprouting drives hippocampal cholinergic reinnervation that prevents loss of a muscarinic receptor-dependent long-term depression at CA3-CA1 synapses.. '), ('8762', 'DMD_BMD', '', 'DMD', 'BMD', '24274981', '12', '', '', '', '', '', '', '', '', '', 'Point mutations in the dystrophin gene are responsible for 30-35% of cases with DMD/BMD. '), ('8763', 'PAX5_ETV6', '', 'PAX5', 'ETV6', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). '), ('8764', 'MAPK3_P42', '', 'MAPK3', 'P42', '16123449', '12', '', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'KGF was also shown to increase cellular proliferation and activated the MAPK p44/p42 cascade. '), ('8765', 'LEU7_CD4', '', 'LEU7', 'CD4', '2115372', '12', '', '', '', '', '', '', '', '', '', 'Immunophenotyping of these lymphocytes during exercise demonstrated that the predominant cell was CD3+, CD8+, CD57+ (Leu7)/CD4-, CD16-, CD25-. '), ('8766', 'IL3_CSF2', 't(4;12)(q11-q12;p13) / t(5;12)(q31;p13) / t(6;12)(q23;p13) / ', 'IL3', 'CSF2', '11861295', '12', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The homeobox gene GSH2 at 4q11-q12 and the IL-3/CSF2 locus at 5q31 were found to be located close to the respective breakpoints. '), ('8767', 'EC1_CLC', '', 'EC1', 'CLC', '24747941', '12', '', '', '', '', '', '', '', '', '', 'Cross-linked CLC-ec1 adopts a wild-type-like structure, indicating stabilization of a native conformation.     ///    \"Here we show that transport in CLC-ec1, a prokaryotic homolog, is inhibited by cross-links constraining movement of helix O far from the transport pathway. \"'), ('8768', 'B19_A20', '', 'B19', 'A20', '11258877', '12', '', '', '', '', '', '', '', '', '', 'The second pathway begins first with the formation of the A20-B19 disulfide bridge, followed immediately by another inter-AB one, possibly nonnative.     ///    The two intermediates with two disulfide bridges contain the common A20-B19 disulfide linkage and another inter-AB one. '), ('8769', 'NPHS1_NEPH1', '', 'NPHS1', 'NEPH1', '21976699', '12', '', '', '', '', '', '', '', '', '', 'We propose that a Neph1/nephrin-Cindr/ArfGAP complex accumulates to limit local Arf6 activity and stabilize adherens junctions.     ///    \"During this process, the Drosophila eye also requires interactions between surface Neph1/nephrin adhesion receptors Roughest and Hibris, which bind the adaptor protein Cindr (CD2AP). \"'), ('8770', 'TIA1_GZMB', '', 'TIA1', 'GZMB', '19705967', '12', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'ptHL and cHL are closely related, but not identical, neoplasms, with the primary differences being the strict association with EBV infection, persistent phenotypic B-cell signature and high expression of PI3K as well as the slightly CD4-depleted but TIA-1/Granzyme B-enriched cellular background composition in ptHL.. '), ('8771', 'TMS_PFB', '', 'TMS', 'PFB', '24222059', '12', '', '', '', '', '', '', '', '', '', ' Electron ionization (EI) gas chromatography/mass spectrometry (GC/MS) analysis of pentafluorobenzyl ester-trimethyl sllyl ether (PFB-TMS) derivatives of hydroxy-subshtuted fatty acids provides structural information comparable to that obtained in analysis of methyl ester-trimethyl silyl ether (Me-TMS) derivatives.     ///    \"Use of this derivative eliminates the need to prepare two separate derivatives, the PFB-TMS derivative for molecular weight determination by electron capture ionization (negative ions) analysis and the Me-TMS derivative for structural determination by EI GC/MS analysis. \"'), ('8772', 'NCYM_MYCN', '', 'NCYM', 'MYCN', '24391509', '12', 'neuroblastoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'In contrast, tumors caused in MYCN/NCYM double transgenic mice showed chemo-resistance to the drug.     ///    \"In contrast to MYCN transgenic mice, neuroblastomas in MYCN/NCYM double transgenic mice were frequently accompanied by distant metastases, behavior reminiscent of human neuroblastomas with MYCN amplification. \"    ///    \"The NCYM protein also interacts with GSK3?, thereby stabilizing the MYCN protein in the tumors of the MYCN/NCYM double transgenic mice. \"'), ('8773', 'CCP2_CCP1', '', 'CCP2', 'CCP1', '20970424', '12', '', '', '', '', '', '', '', '', '', 'The identified interface is clearly distinct from that observed in the covalently linked CCP1-CCP2 pair. '), ('8774', 'RAD50_MRE11', '', 'RAD50', 'MRE11', '21893433', '12', '', '', '', '', '', '', '', '', '', 'Mre11-Rad50 complex crystals suggest molecular calisthenics.. '), ('8775', 'RFC_CTF18', '', 'RFC', 'CTF18', '26987677', '12', '', '', '', '', '', '', '', '', '', ' Human Ctf18-RFC, a PCNA loader complex, interacts with DNA polymerase ? (Pol?) through a structure formed by the Ctf18, Dcc1 and Ctf8 subunits.     ///    \"Thus, the specific interaction of Ctf18-RFC with Pol? is a conserved feature between these proteins. \"    ///    \"These results indicate that?the Ctf18-RFC/Pol? interaction plays a crucial role in maintaining genome stability in budding yeast, probably through recruitment of this PCNA loader to the replication fork. \"    ///    Conserved interaction of Ctf18-RFC with DNA polymerase ? is critical for maintenance of genome stability in Saccharomyces cerevisiae.. '), ('8776', 'P130_RAC', '', 'P130', 'RAC', '11257116', '12', '', '', '', '', '', '', '', '', '', 'We conclude that uPAR interacts with VN both to initiate a p130Cas/Rac-dependent signaling pathway leading to actin reorganization and increased cell motility and to act as an adhesion receptor required for these responses. '), ('8777', 'MSH2_MLH1', '', 'MSH2', 'MLH1', '17582678', '12', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'We applied a recently developed method, multiplex ligation-dependent probe amplification (MLPA), to study MLH1/MSH2 copy number changes in 29 unrelated Basque Country HNPCC families. '), ('8778', 'RET_PTC', '', 'RET', 'PTC', '15947106', '12', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The aim of the present study was to identify the early changes in gene expression induced by RET/PTC in thyroid cells.     ///    RET/PTC-induced gene expression in thyroid PCCL3 cells reveals early activation of genes involved in regulation of the immune response.. '), ('8779', 'TNXB_TNXA', '', 'TNXB', 'TNXA', '12121677', '12', '', '', '', '', '', '', '', '', '', 'We describe molecular studies on RCCX haplotypes revealing a unique recombination giving rise to a TNXB/TNXA hybrid gene, CYP21A deletion and CYP21B duplication on one chromosome of the propositus.     ///    An unequal crossover event in RCCX modules of the human MHC resulting in the formation of a TNXB/TNXA hybrid and deletion of the CYP21A.. '), ('8780', 'CFL1_ADF', '', 'CFL1', 'ADF', '26691726', '12', '', '', '', '', '', '', '', '', '', 'Identified stress-responsive ABPs include: tumor suppressor down-regulated in renal cell carcinoma 1 (DRR1), ADF/cofilin, LIMK1, caldesmon and myosin VI. '), ('8781', 'CD8_CD4', '', 'CD8', 'CD4', '25834361', '12', 'mycosis fungoides,', '', '', '', '', '', '', '', '', 'In 2011, his skin showed definite poikilodermatous changes, and a biopsy showed band-like inflammatory infiltrations of atypical lymphocytes, epidermal atrophy, and epidermotropism of predominantly CD4(-)CD8(+) atypical T cells. '), ('8782', 'TCR_MHC', '', 'TCR', 'MHC', '8717508', '12', '', '', '', '', '', '', '', '', '', 'Later, at the CD4+8+ stage, as well as providing low avidity TCR/MHC-peptide interactions, thymic epithelial cells have been shown to possess unique properties essential for positive selection. '), ('8783', 'CYTC_CYB5', '', 'CYTC', 'CYB5', '7893811', '12', '', '', '', '', '', '', '', '', '', 'Interpretation of these results has been facilitated through the use of energy minimization calculations to refine the hypothetical models previously suggested for the cytochrome c- cytochrome b5 precursor complex on the basis of Brownian dynamics simulations of the bimolecular encounter event.. '), ('8784', 'RET_PTC1', '', 'RET', 'PTC1', '16778204', '12', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Taken together, these findings identify RET as a novel substrate of PTPRJ and suggest that PTPRJ expression levels may affect tumor phenotype associated with RET/PTC1 and RET(C634R) mutants.     ///    \"PTPRJ expression induces dephosphorylation of the RET(C634R) and, probably via an indirect mechanism, RET/PTC1 oncoproteins on two key RET autophosphorylation sites (Tyr1062 and Tyr905). \"    ///    We now report that PTPRJ coimmunoprecipitates with wild-type RET and with the MEN2A-associated RET(C634R) oncoprotein but not with the RET/PTC1 and RET-MEN2B isoforms. '), ('8785', 'SAPKS_JNK', '', 'SAPKS', 'JNK', '11718727', '12', '', '', '', '', '', '', '', '', '', 'Together these observations indicate that activation of JNK/SAPKs provides a pathway for phosphorylation of SCG10 and control of growth cone microtubule formation following neuronal exposure to cellular stresses.. '), ('8786', 'BRAF_AKAP9', '', 'BRAF', 'AKAP9', '15753649', '12', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'AKAP9-BRAF was more common in radiation-induced thyroid tumors, whereas point mutations of BRAF predominated in sporadic tumors of the same type, demonstrating the association between environmental factors and specific mechanisms of BRAF activation..     ///    \"The fusion protein, AKAP9-BRAF, contains the intact kinase domain and lacks the autoinhibitory N-terminal portion of BRAF. \"'), ('8787', 'VWF_FVIII', '', 'VWF', 'FVIII', '26065653', '12', '', '', '', '', '', '', '', '', '', 'FVIII-VWF association is primarily established between the FVIII C1 domain and the VWF D\' domain, whereas weaker interactions appear to be mediated between both FVIII C domains and the VWF D3 core. '), ('8788', 'DMD_BMD', '', 'DMD', 'BMD', '24300647', '12', 'Duchenne and Becker muscular dystrophy\r\r', '', '', '', '', '', '', '', '', 'To evaluate MLPA relative to mPCR as a technique for DMD/BMD diagnostic testing and to establish whether the mutation profile in affected individuals differs between different South African ethnic groups.     ///    \"From January 2000 - May 2007, genetic diagnostic testing for DMD/BMD was undertaken in 128 male patients using mPCR. \"'), ('8789', 'P25_CDK5', '', 'P25', 'CDK5', '14505655', '12', '', '', 'Kinase', '', '', '', '', '', '', 'Several compounds proved to be selective inhibitors of CDK5/p25 versus the closely homologous CDK2/cyclin A enzyme, with the best analogue (43) possessing over 100-fold selectivity.. '), ('8790', 'CD8_CD4', '', 'CD8', 'CD4', '20702104', '12', 'hemophagocytic syndrome', '', '', '', '', '', '', '', '', 'CD4/CD8 +/+ or -/- is at times seen, as is CD8, CD56 and cytotoxic granule expression. '), ('8791', 'RET_PTC', '', 'RET', 'PTC', '10834397', '12', 'follicular adenoma;papillary adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This lesions occur in almost 50% of papillary cancers and consist in the juxtaposition of the 3\' or tyrosine kinase domain of the RET gene (which codes for a receptor protein not normally expressed in follicular thyroid cells) with the 5\' domain of ubiquitously expressed genes, which provide the promoter and dimerization functions, necessary for the constitutive activation of RET/PTC proteins.     ///    Papillary carcinomas show frequently a specific gene rearrangement which gives rise to the formation of several types of so-called RET/PTC chimeric genes. '), ('8792', 'CD8_CD4', '', 'CD8', 'CD4', '7688628', '12', 'non Hodgkin lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'He was HIV + with CD4/CD8 = 0.2 and his sister had HD 20 years earlier. '), ('8793', 'PTC_ATC', '', 'PTC', 'ATC', '10951397', '12', 'thyroid carcinoma;thyloid cancer;follicular adenoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'c-ret activation was found in 24% of PTCs (12 of 50), in 87.5% of ATCs (7 of 8), and in 33% of the combined PTC/ATC group. '), ('8794', 'CXCR7_CXCL12', '', 'CXCR7', 'CXCL12', '19380869', '12', '', '', '', '', '', 'Receptor', '', '', '', 'Varying CXCR7 expression levels and blocking CXCL12/CXCR7 interactions in primary T cells suggest that CXCR4/CXCR7 heterodimers form in primary lymphocytes and regulate CXCL12-promoted chemotaxis. '), ('8795', 'CDC42_ACK', '', 'CDC42', 'ACK', '10684602', '12', '', '', '', '', '', '', '', '', '', 'These mutations are interpreted using the structures of the Cdc42/ACK and Cdc42/WASP complexes to give insight into how effectors can specifically recognize Cdc42. '), ('8796', 'TEM_AFM', '', 'TEM', 'AFM', '22780850', '12', '', '', '', '', '', '', '', '', '', 'The method is based on the statistical analysis of the force peaks measured in repeated approaching/retracting loops of an AFM cantilever into a film of nanoparticle agglomerates and relies on the in-situ imaging of the film stretching behavior in an AFM/TEM setup. '), ('8797', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '16111638', '12', '', '', '', '', '', '', '', '', '', 'The interaction with histones is observed in developing lymphocytes and within the RAG1/RAG2 recombinase complex in a manner that is dependent on the RAG2 C terminus. '), ('8798', 'CD8_CD4', '', 'CD8', 'CD4', '7871335', '12', 'arthritis\r\r', '', '', '', '', '', '', '', '', 'The third patient with RA was suffering from a proliferation of TCR1+ (V delta 1+, V gamma 9-) CD4- CD8- CD16- CD56- lymphocytes. '), ('8799', 'ELMO1_CED12', '', 'ELMO1', 'CED12', '11595183', '12', '', '', '', '', '', '', '', '', '', 'CED-12/ELMO-1 binds directly to CED-5/Dock180. '), ('8800', 'CXCR4_CD4', '', 'CXCR4', 'CD4', '24778234', '12', 'AIDS\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Using several resonance energy transfer techniques, we determined that CD4, CXCR4, and CCR5 formed heterotrimers, and that CCR5 coexpression altered the conformation of both CXCR4/CXCR4 homodimers and CD4/CXCR4 heterodimers.     ///    CCR5 reduced HIV-1 envelope-induced CD4/CXCR4-mediated cell-cell fusion. '), ('8801', 'TCR_CD28', '', 'TCR', 'CD28', '18593274', '12', '', '', '', '', '', '', '', '', '', 'CD7(-) T cells are generated in vitro from naive CD7(+) T cells upon repetitive TCR/CD28 engagement, a process that is unidirectional and requires multiple cell divisions. '), ('8802', 'RAC_CDC42', '', 'RAC', 'CDC42', '16101281', '12', '', '', '', '', '', '', '', '', '', 'As well as small G proteins, PAK interacts with the Cdc42/Rac exchange factor beta-PIX via the PIX SH3 domain and a nontypical Pro-rich region in PAK. '), ('8803', 'P210_P190', '', 'P210', 'P190', '9305617', '12', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In summary, we describe a technique that is useful in the detection of p190/p210 ALL at diagnosis. '), ('8804', 'ETO_AML1', '', 'ETO', 'AML1', '18665825', '12', 'acute myeloid leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Four cases of AML1-ETO (20%) and one PML-RARA (5%) were found in ANLL samples. '), ('8805', 'CD8_CD4', '', 'CD8', 'CD4', '26258878', '12', 'cutaneous T cell lymphoma', '', '', '', '', '', '', '', '', 'Similarly, only rare cases of CD4/CD8 double-positive primary cutaneous T-cell lymphoma have been reported. '), ('8806', 'GLUR3_GLUR2', '', 'GLUR3', 'GLUR2', '15591246', '12', '', '', '', '', '', '', '', '', '', 'The results show that the selectivity of (S)-CPW399 toward full-length GluR2 relative to GluR3 is reflected in the binding data on the two soluble constructs, allowing the use of (Y702F)GluR2-S1S2J as a model system for studying GluR2/GluR3 selectivity. '), ('8807', 'RBCS_PBS', '', 'RBCS', 'PBS', '3598465', '12', '', '', '', '', '', '', '', '', '', 'Human monocytes showed a 15% ingestion of glucose-RBCs, and a 26% ingestion of glucose-6-phosphate-RBCs, compared to 6% for PBS-RBCs.     ///    Erythrophagocytosis of FFI-RBCs was significantly higher than that of PBS-RBCs (55 vs. '), ('8808', 'CD25_CD11C', '', 'CD25', 'CD11C', '23928529', '12', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemical study showed the following results: CD20(+) PAX5(+) CD3(-) CD5(-) CD10(-) cyclin D1(-) CD23(-) CD43(-) Annexin A1(-) CD11C(-) CD25(-) in all the 22 cases, CD38(+) in 2 cases (9.1%) and CD138(+) in 2 cases (9.1%). '), ('8809', 'CALR_calnexin', '', 'CALR', 'calnexin', '23685074', '12', '', '', '', 'Oncogene', '', '', '', '', '', 'The ERp44 assembly control cycle couples secretion fidelity and efficiency downstream of the calnexin/calreticulin and BiP-dependent quality control cycles. '), ('8810', 'CD5_CD19', '', 'CD5', 'CD19', '11952817', '12', 'mantle cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Studies done in blood and splenic lymphocytes revealed the following: 7/7 patients were CD19/CD5, CD20 and CD38 positive. '), ('8811', 'RET_PTC', '', 'RET', 'PTC', '12665647', '12', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'however, the role of RET/PTC in tumor progression still needs to be defined..     ///    Recent studies have suggested that RET/PTC may be the cause of this specific nuclear change in PTC. '), ('8812', 'EML4_ALK', '', 'EML4', 'ALK', '22825000', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK testing in non-small cell carcinomas of the lung: a review with recommendations.. '), ('8813', 'MEK_ERK', '', 'MEK', 'ERK', '18034864', '12', '', '', '', '', '', '', '', '', '', 'albicans filaments by neutrophils is mediated via the MEK/ERK cascade and independent of JNK or p38 activation. '), ('8814', 'CD8_CD4', '', 'CD8', 'CD4', '20178497', '12', 'non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', 'TCR-alphabeta(+) populations were either CD8(+) (two of four) or CD4(-)CD8(-) (2/4). '), ('8815', 'PAI1_P10', '', 'PAI1', 'P10', '9139722', '12', '', '', '', '', '', '', '', '', '', 'The active forms of both PAI-1-P10(Ser --> Pro) and PAI-1-P18(Asn --> Pro) are also labile but, in contrast to the active form of wtPAI-1, convert into substrate forms.     ///    \"PAI-1-P6 (Val --> Pro at P6) revealed a target specificity for t-PA (39 +/- 7% versus 3 +/- 2% of the theoretical maximal value toward t-PA and u-PA, respectively), PAI-1-P10 (Ser --> Pro at P10) was 4-fold more active toward u-PA than toward t-PA, and PAI-1-P18 (Asn --> Pro at P18) exhibited inhibitory properties exclusively toward u-PA (41 +/- 10%). \"'), ('8816', 'CD5_CD10', '', 'CD5', 'CD10', '10482997', '12', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'They were all cyclin D1 negative and were phenotypically divided into three groups, ie group I (CD5+ type, n=11), group II (CD5- CD10+ type, n=19), and group III (CD5- CD10- type, n=33). '), ('8817', 'PARP1_APE1', '', 'PARP1', 'APE1', '26013813', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Direct physical interactions between the APE1-Pol?, APE1-TDP1, APE1-PARP1 and Pol?-TDP1 pairs have been detected and characterized for the first time. '), ('8818', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '24811161', '12', 'acute lymphoblastic leukemia;chronic lymphocytic leukemia;lymphoblastic leukemia;leukemia;B cell lymphoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'TCF3-PBX1), most mature B-cell lymphomas rely on BCR signaling provided by different stimuli, for example tonic B-cell signaling, chronic (auto)-antigen exposure, and self-binding properties of the BCR. '), ('8819', 'ZMIZ1_ABL1', '', 'ZMIZ1', 'ABL1', '21435002', '12', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Fusion genes that have a break in intron 1 or 2 (BCR-ABL1, ETV6-ABL1, ZMIZ1-ABL1, EML1-ABL1, and NUP214-ABL1) have transforming activity, although NUP214-ABL1 requires amplification to be efficient. '), ('8820', 'MSH6_MSH2', '', 'MSH6', 'MSH2', '22912599', '12', 'anemia\r\r', '', '', '', '', '', '', '', '', 'We find that the yeast FANCM ortholog Mph1 physically and functionally interacts with Mgm101, a protein previously implicated in mitochondrial DNA repair, and the MutS? mismatch repair factor (Msh2-Msh6). '), ('8821', 'P120_VE-cadherin', '', 'P120', 'VE-cadherin', '14672921', '12', '', '', '', '', '', '', '', '', '', 'We used a number of approaches to alter the level of p120 available for binding to VE-cadherin as a means to investigate the role of p120-VE-cadherin interaction in regulation of barrier function in confluent endothelial monolayers.     ///    VE-cadherin-p120 interaction is required for maintenance of endothelial barrier function.. '), ('8822', 'SN2_DMC', '', 'SN2', 'DMC', '17900114', '12', '', '', '', '', '', '', '', '', '', 'DFT calculations identify the steps needed to form the carboxylate from imidazole and DMC: SN2 methyl transfer from DMC to imidazole, followed by proton transfer from the imidazolium CH to the carboxylate counterion, produces the free NHC H-bonded to MeOH with a weakly associated CO2. '), ('8823', 'CD8_CD4', '', 'CD8', 'CD4', '22005074', '12', 'pityriasis rubra pilaris', '', '', '', '', '', '', '', '', 'Peripheral blood abnormalities including elevated CD4/CD8 ratio, aberrant CD26, CD27 and CD7 expression, and T-cell clonality can all be used to help arrive at a diagnosis. '), ('8824', 'RASIP1_ArhGAP29', '', 'RASIP1', 'ArhGAP29', '23798437', '12', '', '', '', '', '', '', '', '', '', 'The Rasip1-ArhGAP29 pathway also functions in Rap1-mediated regulation of endothelial junctions, which controls endothelial barrier function. '), ('8825', 'ASPQ_PEG', '', 'ASPQ', 'PEG', '18580955', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'After administration of one in vivo dose of PEG-asparaginase no changes in apoptotic parameters or in intracellular levels of twenty amino acids in leukemic cells could be measured, in contradiction to the changes found after in vitro exposure.     ///    \"Pharmacokinetic, pharmacodynamic and intracellular effects of PEG-asparaginase in newly diagnosed childhood acute lymphoblastic leukemia: results from a single agent window study.. \"    ///    One additional dose of PEG-asparaginase upfront ALL treatment did not lead to other severe toxicities.. '), ('8826', 'CD18_CD11B', '', 'CD18', 'CD11B', '19067551', '12', '', '', '', '', '', '', '', '', '', 'Biological studies demonstrated potent integrin CD11b/CD18 antagonistic effects.. '), ('8827', 'CD57_CD56', '', 'CD57', 'CD56', '21501301', '12', 'T cell lymphoma;follicular lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The lymphoma cells were CD3(+) CD4(+) CD5(+) CD8(-) CD10(+) CD56(-) CD57(-) BCL6(+) PD-1(+) CXCL13(+) and were associated with a meshwork of CD21(+) follicular dendritic cells. '), ('8828', 'RET_PTC', '', 'RET', 'PTC', '12182064', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In all RET/PTC types the RET tyrosine kinase domain is fused to the N-terminus of ubiquitously expressed genes that is capable of ligand-independent dimerization.     ///    \"What is more, the targeted expression of RET/PTC in mice leads to the development of thyroid tumors very similar to human PTCs. \"    ///    RET/PTC3 seems to be associated with solid/follicular variant PTC and short latency period (it is found more frequently in children) whereas RET/PTC1--with classic PTC variant and long latency..     ///    The prevalence of RET/PTC in papillary thyroid carcinomas of thyroid varies widely from a few to about 80% with the highest frequency in tumors arising in children after ionizing radiation.     ///    Correlation with clinical outcome as well as prognostic value of RET/PTC is controversial.     ///    The majority of RET/PTC identified consists of two types which results from the inversion of chromosome 10: RET/PTC1 and RET/PTC3. '), ('8829', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '25398061', '12', 'T cell lymphoma;leukemia;hypereosinophilic syndrome;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Contrary to FIP1L1-PDGFRA chronic eosinophilic leukemia patients, CS are always effective in these patients, but CS-sparing treatments are frequently needed. '), ('8830', 'SYT_SSX', '', 'SYT', 'SSX', '27180056', '12', 'desmoplastic small round cell tumor', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'All tumors were tested for EWSR1-ETS, EWSR1/WT1, PAX3/7-FOX01 or SYT/SSX transcripts, and the negative tumors were subsequently analyzed for CIC/DUX4, BCOR/CCNB3 and CIC/FOX04 transcripts.     ///    \"Three cases (1.5%) revealed the SYT-SSX transcript for Synovial sarcoma, and one (0.5%) a EWSR1-WT1 transcript for Desmoplastic Small Round Cell tumor. \"'), ('8831', 'TAR_RBP', '', 'TAR', 'RBP', '18508075', '12', '', '', '', '', '', '', '', '', '', 'Modest stimulation of catalysis by the full-length Dicer enzyme was observed in the presence of the TAR-RNA binding protein, which physically interacts with the DExD/H-box domain. '), ('8832', 'SOD2_SOD', '', 'SOD2', 'SOD', '1592538', '12', '', '', '', '', '', '', '', '', '', 'Total SOD activity was fairly constant, whereas the ratio SOD2/SOD1 was much lower in TF than in NF. '), ('8833', 'GAP_CDC42', '', 'GAP', 'CDC42', '9632678', '12', '', '', '', '', '', '', '', '', '', 'In addition, we have replaced the conserved arginine (Arg305), which was suggested by structural studies to be a key catalytic residue, with an alanine and found that the R305A Cdc42-GAP mutant has a greatly diminished catalytic capacity but is still able to bind Cdc42 with high affinity.     ///    \"We have used site-specific mutagenesis to elucidate the limit domain for GAP activity in Cdc42-GAP, and show that in addition to the known GAP-homology domain (three conserved boxes), a C-terminal region outside that domain is also essential for GAP activity. \"    ///    \"However, we also present evidence for the involvement of an additional residue(s), since the R305A Cdc42-GAP mutant still exhibits measurable activity. \"'), ('8834', 'PAI1_P18', '', 'PAI1', 'P18', '9139722', '12', '', '', '', '', '', '', '', '', '', 'PAI-1-P6 (Val --> Pro at P6) revealed a target specificity for t-PA (39 +/- 7% versus 3 +/- 2% of the theoretical maximal value toward t-PA and u-PA, respectively), PAI-1-P10 (Ser --> Pro at P10) was 4-fold more active toward u-PA than toward t-PA, and PAI-1-P18 (Asn --> Pro at P18) exhibited inhibitory properties exclusively toward u-PA (41 +/- 10%).     ///    \"The active forms of both PAI-1-P10(Ser --> Pro) and PAI-1-P18(Asn --> Pro) are also labile but, in contrast to the active form of wtPAI-1, convert into substrate forms. \"'), ('8835', 'BRCA2_BRCA1', '', 'BRCA2', 'BRCA1', '17661168', '12', 'male breast cancer;ovarian cancer', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Here, we investigated the contribution of BRCA1, BRCA2 and CHEK2 alterations to MBC predisposition in Italy by analysing a large series of MBC cases, unselected for breast cancer family history and all negative for BRCA1/BRCA2 germ-line mutations. '), ('8836', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '22314189', '12', 'extranodal NK/T-cell lymphoma;T cell lymphoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Intestinal ENKTLs were EBV and had significantly more frequent CD30, pSTAT3, and IRF4/MUM1 expression but less frequent CD16 compared with ?? EATL.     ///    \"Of the NK-ENKTLs, 38% were Oct-2 compared with 0% of T-ENKTLs, and 54% were IRF4/MUM1 compared with 20% of T-ENKTLs. \"'), ('8837', 'RET_PTC', '', 'RET', 'PTC', '24267151', '12', 'anaplastic thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The overall prevalence determined were the following: RET/PTC, 4%. '), ('8838', 'SAPK_JNK', '', 'SAPK', 'JNK', '22570218', '12', '', '', '', '', '', '', '', '', '', 'third, the phosphorylation levels of Akt, ERK1/2, SAPK/JNK, and p38MAPK were closely related to the differentiation levels of MSCs subjected to HGF.     ///    \"and finally, although inhibition of ERK1/2 signaling significantly attenuated HGF-stimulated transfilter migration of both undifferentiated and differentiating MSCs, abolishment of PI3K/Akt, p38MAPK, or SAPK/JNK signaling only decreased the number of migrated cells in certain differentiation state(s). \"'), ('8839', 'PPO_PEO', '', 'PPO', 'PEO', '19938845', '12', '', '', '', '', '', '', '', '', '', ' The salt induced sphere-to-rod growth in the micelles of the PEO-PPO triblock copolymers, Pluronic P123 (EO(20)PO(70)PEO(20)) and Pluronic P103 (EO(16)PO(61)PEO(16)), has been studied by dynamic light scattering (DLS), viscometry, and small angle neutron scattering (SANS) techniques. '), ('8840', 'RET_PTC1', '', 'RET', 'PTC1', '18393128', '12', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No statistical difference was found between RET/PTC1 and RET/PTC3.     ///    \"As a result, no significant correlation was found in between prognosis and RET/PTC frequency.. \"    ///    \"This study aims to identify the prevalence of RET/PTC oncogene expression in Turkey, and to investigate the correlation between RET/PTC oncogene expression and the known prognostic factors of PTC in 101 patients. \"    ///    None of genetico-clinical analyses showed any significant association between RET/PTC expression and the clinical and pathological features of the cancers.     ///    \"There was RET/PTC2 positiveness in two patients, RET/PTC2,3 positiveness in one patient, and RET/PTC1,2,3 positiveness in one patient. \"    ///    \"RET/PTC1 in 32(31.7%), RET/PTC3 in 21(20.8%), RET/PTC1+RET/PTC3 both in 10(9.9%) patients were found to be positive. \"    ///    RET/PTC was determined positive in 67(66.3%) of totally 101 patients (p<0.001).     ///    \"While this prevalence of the RET/PTC is less than RET/PTC frequency seen after Chernobyl in Belarus, its prevalence in our region is also high (66.3%). \"    ///    The prevalence of RET/PTC mutations in papillary thyroid cancers in Turkish population and its relation between tumor histopathology and prognostic factors..     ///    Correlation of RET/PTC expression with clinical outcome is controversial. '), ('8841', 'NBS1_MRE11', '', 'NBS1', 'MRE11', '20081839', '12', '', '', '', '', '', '', '', '', '', '53BP1 amplifies Mre11-NBS1 accumulation at late-repairing DSBs, concentrating active ATM and leading to robust, localized pKAP-1. '), ('8842', 'SDF1_CXCR4', '', 'SDF1', 'CXCR4', '12535795', '12', '', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'SDF-1/CXCR4-mediated chemotaxis of Jurkat cells is strongly, but incompletely abrogated (e.g. '), ('8843', 'NPM1_ALK', '', 'NPM1', 'ALK', '25602801', '12', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In addition to ALK fusions previously described in other tumor types (NPM1-ALK, TPR-ALK), we identified 2 novel ALK fusions (CLIP1-ALK and GTF3C2-ALK) in our cohort of Spitz tumors. '), ('8844', 'BP4_BP2', '', 'BP4', 'BP2', '26279651', '12', 'craniofacial abnormalities\r\r', '', '', '', '', '', '', '', '', 'We describe a unique 3-generation family with a large recurrent 1q21.1 microduplication (BP2-BP4). '), ('8845', 'SAPK_JNK', '', 'SAPK', 'JNK', '11861760', '12', '', '', '', '', '', '', '', '', '', 'In particular, we show the localization of JNK/SAPK to both the nucleus and to cytoplasmic multi-vesicular structures. '), ('8846', 'SF1_BBP', '', 'SF1', 'BBP', '21189690', '12', '', '', '', '', '', 'Receptor', '', '', '', 'BBP/SF1 is essential for viability in organisms spanning the evolutionary spectrum from yeast to Caenorhabditis elegans to mice.     ///    \"In addition, mice heterozygous for a SF1 knockout allele show enhanced susceptibility to azoxymethane-induced colon tumorigenesis adding BBP/SF1 to the growing list of RNA processing factors implicated in genetic disease. \"'), ('8847', 'RAC_CDC42', '', 'RAC', 'CDC42', '18245386', '12', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'Spatial mapping of the neurite and soma proteomes reveals a functional Cdc42/Rac regulatory network.. '), ('8848', 'VCFS_DGS', '', 'VCFS', 'DGS', '10545603', '12', 'velocardiofacial syndrome', '', '', '', '', '', '', '', '', 'These results suggest that heterozygous deletion of this portion of the DGCR is sufficient for sensorimotor gating abnormalities, but not sufficient to produce the common features of DGS/VCFS in the mouse..     ///    Mice heterozygous for this deletion display no findings of DGS/VCFS in either inbred or mixed backgrounds. '), ('8849', 'MF1_ATPase', '', 'MF1', 'ATPase', '8027034', '12', '', '', '', '', '', '', '', '', '', '267, 11982-11986) were only detectable in MF1-ATPase when the enzyme was preincubated with Mg2+ ions.     ///    Conformational differences between F1-bound spin-labeled nucleotides were also observed between TF1- and MF1-ATPases.. '), ('8850', 'NPM_ALK', '', 'NPM', 'ALK', '17611412', '12', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'As such, in the absence of ligand, the ALK receptor is kinase inactive and its expression results in enhanced apoptosis, whereas kinase activation, due to a ligand or constitutive as in NPM-ALK, decreases apoptosis.     ///    \" ALK (anaplastic lymphoma kinase) is a transmembrane receptor tyrosine kinase, initially discovered as part of the NPM-ALK fusion protein, resulting from a chromosomal rearrangement frequently associated with anaplastic large cell lymphomas. \"'), ('8851', 'MYC_BCL6', '', 'MYC', 'BCL6', '26224092', '12', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '77%), followed by BCL6/MYC (2 cases. '), ('8852', 'ATPase_AAA', '', 'ATPase', 'AAA', '25102382', '12', '', '', '', '', '', '', '', '', '', ' The 26S proteasome is an integral element of the ubiquitin-proteasome system(UPS) and, as such, responsible for regulated degradation of proteins in eukaryotic cells.It consists of the core particle, which catalyzes the proteolysis of substrates into small peptides, and the regulatory particle, which ensures specificity for a broad range of substrates.The heart of the regulatory particle is an AAA-ATPase unfoldase, which is surrounded by non-ATPase subunits enabling substrate recognition and processing.     ///    \"The cytosol proteasomal degradation of polyubiquitylated substrates is tuned by various associating cofactors, including deubiquitylating enzymes, ubiquitin ligases,shuttling ubiquitin receptors and the AAA-ATPase Cdc48/p97. \"'), ('8853', 'TH1_CD8', '', 'TH1', 'CD8', '24852691', '12', '', '', '', '', '', '', '', '', '', 'Tertiary lymphoid structures, which contain mature dendritic cells (DC) in a T cell zone, proliferating B cells and follicular DC, are found in the tumor stroma and they correlate with intratumoral Th1/CD8 T cell and B cell infiltration.     ///    \"Thus, high densities of memory Th1/CD8 cytotoxic T cells in the primary tumors correlate with good prognosis in most tumor types. \"'), ('8854', 'NBC1_AE2', '', 'NBC1', 'AE2', '20362570', '12', '', '', '', '', '', '', '', '', '', 'Analyses of the responsible basolateral anion transporters revealed that forskolin increased both bumetanide (an inhibitor of the basolateral Na(+)-K(+)-2Cl(-) cotransporter [NKCC1])- and DNDS (an inhibitor of basolateral HCO(3)(-)-dependent anion transporters [NBC1/AE2])-sensitive I(SC) in the control whereas only the former was prevented by the application of menthol. '), ('8855', 'BRCA2_BRCA1', '', 'BRCA2', 'BRCA1', '16284991', '12', 'ovarian cancer\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'A family history of breast and/or ovarian carcinoma was reported in 65%, 75%, and 43.5% of relatives of BRCA1 carriers, BRCA2 carriers, and non-BRCA1/BRCA2 carriers, respectively. '), ('8856', 'WASP_ARP2', '', 'WASP', 'ARP2', '11073096', '12', '', '', '', '', '', '', '', '', '', 'Upstream of the WASP family proteins, receptor tyrosine kinases, G-protein-coupled receptors, phosphoinositide-3-OH kinase (PI 3-kinase), and the Rho family of GTPases receive and transduce the signals that lead to actin nucleation through WASP-Arp2/3 action. '), ('8857', 'BCL6_CD57', '', 'BCL6', 'CD57', '11224611', '12', 'T cell lymphoma;follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Lymphoma cells in all cases were CD4+ CD8- CD57- bcl-6, with CD10 coexpression in 2 cases. '), ('8858', 'CD8_CD4', '', 'CD8', 'CD4', '9182906', '12', 'severe combined immunodeficiency', '', '', '', '', '', '', '', '', 'Jak3 is highly expressed in double negative (CD4- CD8-) cells, one of the earliest stages of thymocyte differentiation, and can be activated via the IL-7 receptor. '), ('8859', 'SEMA3A_PLXND1', '', 'SEMA3A', 'PLXND1', '22179111', '12', '', '', '', '', '', '', '', '', '', 'Semaphorin 3E-Plexin-D1 signaling controls pathway-specific synapse formation in the striatum.. '), ('8860', 'DMD_BMD', '', 'DMD', 'BMD', '21374525', '12', 'Duchenne and Becker muscular dystrophies', '', '', '', '', '', '', '', '', 'The size of the dystrophin gene and the nature of mutations at this locus that give rise to DMD/BMD make pulsed field gel electrophoresis (PFGE) an appropriate and powerful technique for detection of mutations and hence accurate carrier diagnosis in these diseases.. '), ('8861', 'GIT1_ARHGEF6', '', 'GIT1', 'ARHGEF6', '26507661', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, we show that ARHGEF6 is constitutively linked to GIT1, a GAP of Arf family small G proteins, and that ARHGEF6 phosphorylation enables binding of the 14-3-3 adaptor protein to the ARHGEF6/GIT1 complex. '), ('8862', 'EML1_ABL1', '', 'EML1', 'ABL1', '25740311', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'These observations prompted us to investigate MT association of EML4-ALK and EML1-ABL1 (Abelson 1) fusions in which variable portions of the EML component are present. '), ('8863', 'PMS1_MLH1', '', 'PMS1', 'MLH1', '23435383', '12', 'hereditary nonpolyposis colorectal cancer', '', '', '', '', '', '', '', '', 'Here we report crystal structures of the MutL? (Mlh1-Pms1 heterodimer) C-terminal domain (CTD) from Saccharomyces cerevisiae, alone and in complex with fragments derived from Mlh1 partners. '), ('8864', 'RET_ATA', '', 'RET', 'ATA', '24064755', '12', 'thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In cases of ATA-RET levels B and C, waiting for an increase in bCT and/or sCT may not guarantee that prophylactic surgery is performed before MTC develops (which would assure patients a life free of diseases and a less-invasive surgical procedure, without any need for central lymph-node dissection)..     ///    The only factor predicting the risk of MTC at final histology was an ATA-RET risk level C. '), ('8865', 'TDP1_APE1', '', 'TDP1', 'APE1', '26013813', '12', '', '', '', '', '', '', '', '', '', 'Direct physical interactions between the APE1-Pol?, APE1-TDP1, APE1-PARP1 and Pol?-TDP1 pairs have been detected and characterized for the first time. '), ('8866', 'LFA1_ICAM1', '', 'LFA1', 'ICAM1', '22129583', '12', '', '', '', '', '', '', '', '', '', 'Analysis of LFA-1-ICAM-1 interactions in the immunological synapse suggests that bond lifetimes are on the order of seconds, which is consistent with high affinity interactions subjected to cytoskeletal forces that increase the dissociation rate. '), ('8867', 'TIMP_MMP2', '', 'TIMP', 'MMP2', '8806767', '12', '', '', '', '', '', '', '', '', '', 'The proenzyme forms of MMP-2 (gelatinase A) and MMP-9 (gelatinase B) are found in complex with tissue inhibitor of metalloproteinases (designated proMMP-2/ TIMP-2 and proMMP-9/TIMP-1, respectively).     ///    \"These data, together with our previous biochemical observation that mercurial treatment of proMMP-2/TIMP-2 exposes the MMP-2 active site without propeptide processing (Y. \"'), ('8868', 'DAXX_ATRX', '', 'DAXX', 'ATRX', '22829774', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Recently, mutations in the ATRX/DAXX chromatin remodeling complex and histone H3.3 were found to correlate with features of ALT in pancreatic neuroendocrine cancers, pediatric glioblastomas, and other tumors of the central nervous system, suggesting that these mutations might contribute to the activation of the ALT pathway in these cancers. '), ('8869', 'HSP70_HSC70', '', 'HSP70', 'HSC70', '23331571', '12', '', '', '', '', '', '', '', '', '', 'Two isoforms of the cytosolic Hsp70/Hsc70 proteins were detected in both species under normal physiological conditions and encoded by two distinct hsp/hsc70 family members. '), ('8870', 'CD4_CD25', '', 'CD4', 'CD25', '10508182', '12', '', '', '', '', '', '', '', '', '', ' During adult thymus development immature CD4(-)CD8(-) [double-negative (DN)] precursor cells pass through four phenotypically distinct stages defined by expression of CD44 and CD25: CD44(hi)CD25(-) (DN1), CD44(hi)CD25(+) (DN2), CD44(lo)CD25(+) (DN3) and CD44(lo)CD25(-) (DN4). '), ('8871', 'CD79A_CD20', '', 'CD79A', 'CD20', '16625093', '12', 'coronary disease;lymphoproliferative disorder', '', '', '', '', '', '', '', '', 'All were EBV-related (EBER+) with the large neoplastic cells CD20/CD79a positive but CD15 negative. '), ('8872', 'ERBB2_EGFR', '', 'ERBB2', 'EGFR', '25603171', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we took advantage of these conformational probes to reveal the existence of tethered EGFR in EGFR/ErbB2 predimers.     ///    Conformational nanobodies reveal tethered epidermal growth factor receptor involved in EGFR/ErbB2 predimers.. '), ('8873', 'FLI1_EWS', 't(11;22)(q24;q12) / ', 'FLI1', 'EWS', '10197607', '12', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Many alternative forms of EWS-FLI1 exist because of variations in the locations of the EWS and FLI1 genomic breakpoints. '), ('8874', 'PGS_IVF', '', 'PGS', 'IVF', '22161467', '12', 'recurrent miscarriage', '', '', '', '', '', '', '', '', 'A recently published review concluded that the live birthrate for IVF/PGS and natural conception groups appears to be quite similar. '), ('8875', 'CD79A_CD3', '', 'CD79A', 'CD3', '17224542', '12', 'seborrheic keratosis', '', '', '', '', '', '', '', '', 'In the upper dermal lymphocytic infiltrates, the CD3(+)/CD79a(+) cell ratio ranged from 5:5 to 8:2. '), ('8876', 'PTC_MTC', '', 'PTC', 'MTC', '11849247', '12', 'thyroid cancer;thyroid carcinoma', '', '', '', '', '', '', '', '', 'The microsatellite analysis excluded co-segregation of RET locus with the MTC/PTC phenotype. '), ('8877', 'CD45_CD20', '', 'CD45', 'CD20', '12670918', '12', 'dermatofibrosarcoma', '', '', '', '', '', '', '', '', 'The recently identified lymphocyte-rich classical (lrc) HL is characterized by HRS cells with the immunophenotype of classical HRS cells (CD30(+)CD15(+)CD20(-)CD45(-)) but an infiltrate similar to lpHL and a clinical behavior resembling lpHL. '), ('8878', 'CHK1_ATR', '', 'CHK1', 'ATR', '25257608', '12', '', '', 'Kinase', '', '', '', '', '', '', ' Problems arising during DNA replication require the activation of the ATR-CHK1 pathway to ensure the stabilization and repair of the forks, and to prevent the entry into mitosis with unreplicated genomes. '), ('8879', 'P16_CDK4', '', 'P16', 'CDK4', '25675863', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The p16(INK4A)/CDK4-6/pRb pathway and telomerase activity, which are implicated in cell activation and aging, were analyzed to identify new prognostic markers.     ///    Proteins of the p16(INK4A)/CDK4-6/pRb pathway and telomerase activity were analyzed in 123 adult B-cell precursor (BCP) ALL cases included in the GRAALL/GRAAPH trials. '), ('8880', 'LSCS_CD38', '', 'LSCS', 'CD38', '26387756', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Although human CD34(+)CD38(-) LSCs are generally highly quiescent, the C-type lectin CD93 is expressed on a subset of actively cycling, non-quiescent AML cells enriched for LSC activity. '), ('8881', 'AE3_AE1', '', 'AE3', 'AE1', '25267074', '12', 'adenofibroma', '', '', '', '', '', '', '', '', 'The epithelial component was positive for CD57, AE1/AE3, but negative for WT-1, CD56, SYN, and CgA. '), ('8882', 'CDS1_CHK2', '', 'CDS1', 'CHK2', '12615706', '12', '', '', '', '', '', '', '', '', '', 'We also found higher frequency of phosphorylation of p53, NBS1, and CHK2/Cds1 in the progeny of surviving cells. '), ('8883', 'ETV6_ABL2', '', 'ETV6', 'ABL2', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). '), ('8884', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). '), ('8885', 'SULT1A1_PAP', '', 'SULT1A1', 'PAP', '22593037', '12', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'however, the K(d) for EE2 binding to the SULT1A1-PAP complex was >100-fold lower (4.3 ?? 1.7 nM). '), ('8886', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19837270', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'ETV6/RUNX1, formerly TEL/AML1. '), ('8887', 'JAK2_ETV6', '', 'JAK2', 'ETV6', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'ETV6-JAK2 was found in both B-ALL and T-ALL patients.     ///    \"ETV6-RUNX1 were observed in six cases (3.4%), ETV6-JAK2 in three cases (1.7%), ETV6-ABL1 in two cases (1.1%), and ETV6-ABL2, ETV6-NCOA2, ETV6-SYK, and PAX5-ETV6 each in one case (0.6%). \"'), ('8888', 'ULK1_AMPK', '', 'ULK1', 'AMPK', '25266655', '12', '', '', 'Kinase', '', '', '', '', '', '', 'These data suggest a novel mechanism whereby the level of autophagy induction can be modulated by AMPK/ULK1-mediated phosphorylation of mammalian Atg9A. '), ('8889', 'CD57_CD56', '', 'CD57', 'CD56', '10203105', '12', '', '', '', '', '', '', '', '', '', 'Phenotypes of the cells were T cell receptor gammadelta+ CD3+ CD4- CD8+ CD16+ CD56- CD57-. '), ('8890', 'MLL_ELL', '', 'MLL', 'ELL', '19155294', '12', 'leukemia\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'We performed a serial analysis of gene expression in both human and murine MLL-ELL or MLL-ENL leukemia cells and identified 88 genes that seemed to be significantly deregulated in both types of leukemia cells, including 57 genes not reported previously as being deregulated in MLL-associated leukemias. '), ('8891', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '25243942', '12', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Pathologic features such as differentiation, the presence of signet ring cell, EGFR/KRAS mutation status, and TTF-1 expression were also reviewed. '), ('8892', 'RAD51_CHK1', '', 'RAD51', 'CHK1', '22665067', '12', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Akt1 inhibits homologous recombination in Brca1-deficient cells by blocking the Chk1-Rad51 pathway..     ///    Our results indicate that Brca1 deficiency might activate Akt1 contributing to tumorigenesis through regulation of the Chk1-Rad51 signaling.. '), ('8893', 'H2B_H2A', '', 'H2B', 'H2A', '22137897', '12', '', '', '', '', '', '', '', '', '', ' The H2A-H2B histone heterodimer folds via monomeric and dimeric kinetic intermediates.     ///    The H2A-H2B dimeric kinetic intermediate is stabilized by widespread hydrophobic burial with few fully native interactions.. '), ('8894', 'NUP98_DDX10', '', 'NUP98', 'DDX10', '20339440', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Here, we show that NUP98-DDX10 dramatically increases proliferation and self-renewal of primary human CD34+ cells, and disrupts their erythroid and myeloid differentiation.     ///    These data show for the first time the in vitro transforming ability of NUP98-DDX10 and show that it is partially dependent on one of the consensus helicase motifs of DDX10.     ///    \"The YIHRAGRTAR sequence in the DDX10 portion of NUP98-DDX10 represents a major motif shared by DEAD-box RNA helicases that is required for ATP binding, RNA-binding and helicase functions. \"    ///    \"Mutating this motif diminished the in vitro transforming ability of NUP98-DDX10, indicating that it has a role in leukemogenesis. \"    ///    Effects of the NUP98-DDX10 oncogene on primary human CD34+ cells: role of a conserved helicase motif..     ///    \"One of the most frequent is NUP98-DDX10 that fuses a portion of NUP98 to a portion of DDX10, a putative DEAD-box RNA helicase. \"'), ('8895', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '23646898', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'One hundred and fifty patients (median age 42?yr, range 16-69) with CBF AML (RUNX1-RUNX1T1 n?=?74. '), ('8896', 'RAD10_RAD1', '', 'RAD10', 'RAD1', '11000269', '12', '', '', '', '', '', '', '', '', '', 'Our results also suggest that the Ercc1/Xpf endonuclease is required for efficient removal of non-homologous 3\' tails, like its Rad1/Rad10 counterpart in yeast. '), ('8897', 'TEL_AML1', '', 'TEL', 'AML1', '18445843', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We conclude that TEL gene status should be incorporated into risk classification schemes and suggest that patients who have standard-risk features, the TEL-AML1 fusion, and rapid early responses to therapy, should be treated with antimetabolite-based therapy designed to maintain their high cure rates and avoid late effects..     ///     To prospectively determine the prognostic significance of the TEL-AML1 fusion in children with acute lymphoblastic leukemia (ALL). '), ('8898', 'PRB_P16', '', 'PRB', 'P16', '25675863', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The p16(INK4A)/pRb pathway and telomerase activity define a subgroup of Ph+ adult Acute Lymphoblastic Leukemia associated with inferior outcome.. '), ('8899', 'CD8_CD10', '', 'CD8', 'CD10', '21501301', '12', 'T cell lymphoma;follicular lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The lymphoma cells were CD3(+) CD4(+) CD5(+) CD8(-) CD10(+) CD56(-) CD57(-) BCL6(+) PD-1(+) CXCL13(+) and were associated with a meshwork of CD21(+) follicular dendritic cells. '), ('8900', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24897505', '12', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'To date, this has mainly focused on ALL with MLL or ETV6-RUNX1 fusions, with hyperdiploid ALL remaining less well characterised. '), ('8901', 'RET_PTPRJ', '', 'RET', 'PTPRJ', '16778204', '12', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Using mutated forms of PTPRJ and RET-MEN2A, we show that the integrity of the respective catalytic domains is required for the PTPRJ/RET-MEN2A interaction. '), ('8902', 'ZYX_VASP', '', 'ZYX', 'VASP', '23076992', '12', '', '', '', '', '', '', '', '', '', 'Zyxin-VASP complexes localize to sites of cell-cell and cell-substrate adhesion and function to regulate actin dynamics and actin-membrane connections at these sites.     ///    \"Taken together, these results suggest a model where zyxin-VASP complexes occur in complex organizations with suppressed actin regulatory activity.. \"    ///    Zyxin-VASP interactions alter actin regulatory activity in zyxin-VASP complexes..     ///    Here we assess how zyxin-VASP binding through both the proline rich motifs and the LIM domains alters specific VASP functions. '), ('8903', 'WWOX_FRA16D', '', 'WWOX', 'FRA16D', '16187332', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Expression of common chromosomal fragile site genes, WWOX/FRA16D and FHIT/FRA3B is downregulated by exposure to environmental carcinogens, UV, and BPDE but not by IR.. '), ('8904', 'CTNNB1_APC', '', 'CTNNB1', 'APC', '9199178', '12', '', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Our results demonstrate an unexpected role for beta-catenin in cell migration and indicate that dynamic beta-catenin-APC protein interactions are critical for regulating cell migration during epithelial tubulogenesis.. '), ('8905', 'COII_COI', '', 'COII', 'COI', '15483657', '12', '', '', '', '', '', '', '', '', '', 'The COI-NC-COII organization, as well as preliminary phylogenetic results, based on both COI-COII nucleotide and amino-acid sequence indicate monophyly of these talitrid taxa.. '), ('8906', 'CFL1_ADF', '', 'CFL1', 'ADF', '14598374', '12', '', '', '', '', '', '', '', '', '', 'Regulation of the neuronal actin cytoskeleton by ADF/cofilin.. '), ('8907', 'CFL1_LIMK', '', 'CFL1', 'LIMK', '23163536', '12', '', '', '', '', '', '', '', '', '', 'These processes were induced through increased activity in the LIMK/cofilin pathway which coincided with a disruption in the barrier properties of retinal endothelial monolayers. '), ('8908', 'ATR_ATM', '', 'ATR', 'ATM', '18697815', '12', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Here, we show that wild-type p53 repressed repair of DNA double-strand breaks (DSBs) by HR in a manner partially requiring the ATM/ATR phosphorylation site, serine 15. '), ('8909', 'SULT2A1_MBP', '', 'SULT2A1', 'MBP', '25961208', '12', '', '', '', '', '', '', '', '', '', 'The initial-rate parameters (Km and Vmax) of the monomer (MBP-SULT2A1) and native SULT2A1 dimer for DHEA sulfation are extremely similar.     ///    Lack of dimerization in the MBP-SULT2A1 fusion protein decreased the Kd for binding of DHEA at the allosteric site. '), ('8910', 'CCND1_CDK4', '', 'CCND1', 'CDK4', '8957087', '12', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In contrast to observations in other cell types, there was an increased association of both p21Cip1/WAF1 and p27Kip1 with cyclin D1/cdk4 and with cyclin E/cdk2 during TGF-beta mediated arrest of asynchronously growing cells.     ///    \"It has been proposed that in TGF-beta arrested epithelial cells, up-regulation of p15INK4B and of p15INK4B binding to cdk4 serves to destabilize the association of p27Kip1 with cyclin D1/cdk4, promoting p27Kip1 binding and inhibition of cyclin E/cdk2. \"');
INSERT INTO `ChimerPub_dump` VALUES ('8911', 'WASP_ARP2', '', 'WASP', 'ARP2', '18337256', '12', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Competition experiments with TAT-fused WASP peptides suggest that actin polymerization and formation of invadopodia involve the WASP-Arp2/3 complex pathway. '), ('8912', 'NPM_ALK', '', 'NPM', 'ALK', '25874976', '12', 'anaplastic large cell lymphoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK kinase domain mutations in primary anaplastic large cell lymphoma: consequences on NPM-ALK activity and sensitivity to tyrosine kinase inhibitors..     ///    \"Consistently, when co-expressed, INDELs increased crizotinib inhibitory activity on NPM-ALK signal processing, as demonstrated by the significant reduction of STAT3 phosphorylation. \"    ///    \"Therefore, these data suggest that NPM-ALK pre-therapeutic mutations may be found at low frequency in ALCL patients. \"    ///    \"INDELs, instead, generated kinase-dead variants with dominant negative effect on NPM-ALK kinase, in virtue of their capacity of forming non-functional heterocomplexes. \"    ///    \"In the present study, we analyzed ALK kinase domain mutational status of 36 paediatric ALCL patients at diagnosis to identify point mutations and gene aberrations that could impact on NPM-ALK gene expression, activity and sensitivity to small-molecule inhibitors. \"'), ('8913', 'CD8_CD4', '', 'CD8', 'CD4', '11559946', '12', 'hypereosinophilic syndrome\r\r', '', '', '', '', '', '', '', '', ' Abnormal clones of clusters of differentiation (CD)3(-)CD4(+) or CD3(+)CD4(-)CD8(-) phenotypically abnormal lymphocytes have been identified in some patients who have the idiopathic hypereosinophilic syndrome. '), ('8914', 'CLIP1_ALK', '', 'CLIP1', 'ALK', '25602801', '12', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition to ALK fusions previously described in other tumor types (NPM1-ALK, TPR-ALK), we identified 2 novel ALK fusions (CLIP1-ALK and GTF3C2-ALK) in our cohort of Spitz tumors. '), ('8915', 'PDL1_PDCD1', '', 'PDL1', 'PDCD1', '26254381', '12', 'lung cancer;pulmonary blastoma', '', '', '', '', '', '', '', '', 'This could lead to new treatment options based on new immunotherapy agents blocking the PD-1/PD-L1 pathway for this rare disease with poor prognosis. '), ('8916', 'P62_P34', '', 'P62', 'P34', '3289755', '12', '', '', '', '', '', '', '', '', '', 'Each of these conditions was reversed in G2 and the p34/p62 complex was maximally active as a protein kinase, with respect to both endogenous and exogenous substrates, during mitotic metaphase. '), ('8917', 'RBCS_AGE', '', 'RBCS', 'AGE', '3598465', '12', '', '', '', '', '', '', '', '', '', 'AGE-RBCs were also prepared by incubating RBCs with various sugars. '), ('8918', 'MDR1_ABCB1', '', 'MDR1', 'ABCB1', '17354009', '12', '', '', '', '', '', '', '', '', '', 'Perhaps the best characterised of these is p-glycoprotein (gene name ABCB1/MDR1), a barrier epithelia expressed protein with structurally diverse substrates, including the avermectin pesticides. '), ('8919', 'MCP1_MCAF', '', 'MCP1', 'MCAF', '1857712', '12', '', '', '', '', '', '', '', '', '', 'This is borne out by the fact that the IL-8/NAP-1 and modeled MCAF/MCP-1 structures have similar non-bonding energies.     ///    Modeling the three-dimensional structure of the monocyte chemo-attractant and activating protein MCAF/MCP-1 on the basis of the solution structure of interleukin-8..     ///     A model of the three-dimensional structure of the monocyte chemo-attractant and activating protein MCAF/MCP-1 is presented. '), ('8920', 'RAGE_AGE', '', 'RAGE', 'AGE', '25438650', '12', 'diabetic angiopathy;diabetic retinopathy', '', '', '', '', '', '', '', '', 'AGE-RAGE receptor binding causes the synthesis and secretion of VEGF. '), ('8921', 'TCR_MHC', '', 'TCR', 'MHC', '8415641', '12', '', '', '', '', '', '', '', '', '', 'Blocking TCR-MHC class II interactions in vivo does not interfere with the generation of CD4+CD8+ cells expressing endogenous TCRs but does prevent their subsequent maturation to CD4+ cells. '), ('8922', 'NEU_ERBB2', '', 'NEU', 'ERBB2', '19289058', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' HER2 (ErbB2/Neu) is a receptor tyrosine kinase belonging to the epidermal growth factor receptor (EGFR)/ErbB family and is overexpressed in 20-30% of human breast cancers. '), ('8923', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '21435002', '12', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Fusion genes that have a break in intron 1 or 2 (BCR-ABL1, ETV6-ABL1, ZMIZ1-ABL1, EML1-ABL1, and NUP214-ABL1) have transforming activity, although NUP214-ABL1 requires amplification to be efficient. '), ('8924', 'TMD_ECD', '', 'TMD', 'ECD', '24260024', '12', '', '', '', '', '', '', '', '', '', 'Here, using site-directed spin labeling (SDSL) electron paramagnetic resonance (EPR) spectroscopy and functional GLIC channels reconstituted into liposomes, we examined if, and how far, the loops at the ECD/TMD gating interface move during proton-dependent gating transitions from the resting to desensitized state. '), ('8925', 'ETO_AML1', '', 'ETO', 'AML1', '19995953', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Fusion genes were absent in BM-MSCs of childhood leukemias carrying TEL-AML1, BCR-ABL, AML1-ETO, MLL-AF9, MLL-AF10, MLL-ENL or hyperdiploidy. '), ('8926', 'MAD2_CDC20', '', 'MAD2', 'CDC20', '18022368', '12', '', '', '', '', '', '', '', '', '', 'p31(comet) inactivates the checkpoint through binding to Mad1- or Cdc20-bound Mad2, thereby preventing Mad2 activation and promoting the dissociation of the Mad2-Cdc20 complex. '), ('8927', 'ERK2_ERK1', '', 'ERK2', 'ERK1', '10898713', '12', '', '', '', '', '', '', '', '', '', 'These data strongly suggest that H(2)O(2)-mediated increased endothelial solute permeability involves the loss of endothelial tight junction integrity through increased ERK1/ERK2 activation..     ///    \"H(2)O(2) mediates changes in ERK1/ERK2 phosphorylation, increases endothelial solute permeability, and alters occludin localization and phosphorylation were all blocked by PD-98059, a specific mitogen-activated protein (MAP) or ERK kinase 1 inhibitor. \"'), ('8928', 'FUS_CHOP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'FUS', 'CHOP', '16884691', '11', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Nine structural variations of the TLS/FUS-CHOP chimeric transcript have been reported, however, only two types of EWS-CHOP have been described. '), ('8929', 'CCDC6_RET', '', 'CCDC6', 'RET', '20587502', '11', 'thyloid cancer;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We readily identified for the first time the genomic fusion sequences of CCDC6-RET in TPC-1 cells and FGFR1OP2-FGFR1 in KG-1 cells.    ///    We readily identified for the first time the genomic fusion sequences of CCDC6-RET in TPC-1 cells and FGFR1OP2-FGFR1 in KG-1 cells. '), ('8930', 'BCR_ABL1', '', 'BCR', 'ABL1', '25807654', '11', 'chronic myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The clinical characteristics of a 45-year-old Chinese female CML patient with e19a2 BCR/ABL1 transcript were described.     ///    This patient developed an acquired resistance associated with two p-BCR/ABL1 mutations (E255K and G250E) during treatment with imatinib.     ///    The ?-BCR/ABL1 mutation should be investigated after imatinib treatment failure.. '), ('8931', 'RARA_PLZF', 't(11;17)  / t(15;17)  / ', 'RARA', 'PLZF', '8622986', '11', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Amino-terminal protein-protein interaction motif (POZ-domain) is responsible for activities of the promyelocytic leukemia zinc finger-retinoic acid receptor-alpha fusion protein.. '), ('8932', 'ASPSCR1_TFE3', '', 'ASPSCR1', 'TFE3', '23288701', '11', 'alveolar soft part sarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein.    ///    \"As the results indicated that ASPSCR1-TFE3 functions predominantly as a strong transcriptional activator, we hypothesized that a subset of its up-regulated direct targets mediate its oncogenic properties. \"    ///    \"Here we examined the functional properties of the ASPSCR1-TFE3 fusion oncoprotein, defined its target promoters on a genome-wide basis and performed a high-throughput RNA interference screen to identify which of its transcriptional targets contribute to cancer cell proliferation. \"    ///    \"Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein.. \"    ///    \"As validation of this approach to identify genuine ASPSCR1-TFE3 target genes, two up-regulated genes bound by ASPSCR1-TFE3, CYP17A1 and UPP1, were shown by multiple lines of evidence to be direct, endogenous targets of transactivation by ASPSCR1-TFE3.\"    ///    \"Genome-wide location analysis performed on the FU-UR-1 cell line, which expresses endogenous ASPSCR1-TFE3, identified 2193 genes bound by ASPSCR1-TFE3. \"    ///    \"Integration of these data with expression profiles of ASPS tumour samples and inducible cell lines expressing ASPSCR1-TFE3 defined a subset of 332 genes as putative up-regulated direct targets of ASPSCR1-TFE3, including MET (a previously known target gene) and 64 genes as down-regulated targets of ASPSCR1-TFE3. \"    ///    \"As validation of this approach to identify genuine ASPSCR1-TFE3 target genes, two up-regulated genes bound by ASPSCR1-TFE3, CYP17A1 and UPP1, were shown by multiple lines of evidence to be direct, endogenous targets of transactivation by ASPSCR1-TFE3. \"    ///    We first confirmed that ASPSCR1-TFE3 has a predominantly nuclear localization and functions as a stronger transactivator than native TFE3. '), ('8933', 'NUP98_HOXA9', 't(1;11)  / ', 'NUP98', 'HOXA9', '16651408', '11', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Moreover, we have provided evidence that the FG domains of NUP98-PMX1 and two other NUP98-containing fusion proteins, i.e., NUP98-HOXA9 and NUP98-HOXC11, all exhibit dual binding ability to both CREB binding protein, a coactivator, and histone deacetylase 1, a corepressor. '), ('8934', 'NUP98_HOXC11', 't(1;11)  / ', 'NUP98', 'HOXC11', '16651408', '11', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Moreover, we have provided evidence that the FG domains of NUP98-PMX1 and two other NUP98-containing fusion proteins, i.e., NUP98-HOXA9 and NUP98-HOXC11, all exhibit dual binding ability to both CREB binding protein, a coactivator, and histone deacetylase 1, a corepressor. '), ('8935', 'RARA_PML', 't(15;17) / ', 'RARA', 'PML', '15604884', '11', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The mechanism of arsenic cytotoxicity is thought to involve posttranslational modification followed by degradation of the PML-retinoic acid receptor-alpha (PML-RARalpha) fusion protein. '), ('8936', 'EWS_CHN', 't(9;22)(q22-31;q11-12) / ', 'EWS', 'CHN', '8570200', '11', 'chondrosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Our results also indicate that the chimaeric EWS-CHN gene encodes a EWS-CHN fusion protein in which the C-terminal RNA-binding domain of EWS is replaced by the entire CHN protein, comprising a long N-terminal domain, a central DNA binding domain and a C-terminal ligand-binding/dimerisation domain.. '), ('8937', 'EML4_ALK', '', 'EML4', 'ALK', '19734424', '11', 'anaplastic large cell lymphoma;non small cell lung cancer;follicular lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These results indicate that EML4-ALK rearrangements are not specific of NSCLC and raise yet unsolved questions about their role in promoting human neoplasms..     ///    \"EML4-ALK transcripts were detected in 3/51 (5.9%) of reactive lymphoid tissues and 12/58 (20.7%) of lymphomas of different categories, including follicular lymphoma, diffuse large B-cell lymphoma and Hodgkin\'s disease. \"    ///    We investigated the expression of EML4-ALK mRNA and protein in 51 reactive and 58 neoplastic lymphoid tissues.     ///    The EML4-ALK transcript but not the fusion protein can be expressed in reactive and neoplastic lymphoid tissues..     ///    \"Notably, none of these cases expressed the EML4-ALK fusion protein at Western blotting samples and immunohistochemistry.\"    ///    \"Notably, none of these cases expressed the EML4-ALK fusion protein at Western blotting samples and immunohistochemistry. \"'), ('8938', 'TMPRSS2_ETV1', '', 'TMPRSS2', 'ETV1', '17032499', '11', 'prostate cancer;prostatic intraepithelial neoplasia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'To determine the relative order of genetic events in prostate carcinogenesis, we have analyzed 34 prostate carcinomas, 19 paired HGPIN lesions, 14 benign prostate hyperplasias, and 11 morphologically normal prostatic tissues for TMPRSS2-ERG and TMPRSS2-ETV1 rearrangements and genomic imbalances. '), ('8939', 'RET_PTC', '', 'RET', 'PTC', '14555660', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC rearrangements are believed to be tumor-initiating events in papillary thyroid carcinomas.     ///    RET/PTC activated mPGES-1 gene transcription.     ///    Conditional RET/PTC1 or RET/PTC3 expression in PCCL3 thyroid cells markedly induced mPGES-1 and COX-2.     ///    Microsomal prostaglandin E2 synthase-1 is induced by conditional expression of RET/PTC in thyroid PCCL3 cells through the activation of the MEK-ERK pathway..     ///    We identified microsomal prostaglandin E2 synthase-1 (mPGES-1) as a RET/PTC-inducible gene through subtraction hybridization cloning and expression profiling with custom microarrays.     ///    \"Based on experiments with kinase inhibitors, with PCCL3 cell lines with doxycycline-inducible expression of RET/PTC mutants with substitutions of critical tyrosine residues in the kinase domain, and lines with inducible expression of activated mutants of H-RAS and MEK1, RET/PTC was found to regulate mPGES-1 through Shc-RAS-MEK-ERK. \"'), ('8940', 'BP2_BP1', '', 'BP2', 'BP1', '24352232', '11', '', '', '', '', '', '', '', '', '', 'The 15q11.2(BP1-BP2) deletion affects brain structure in a pattern consistent with both that observed during first-episode psychosis in schizophrenia and that of structural correlates in dyslexia. '), ('8941', 'BP5_BP3', '', 'BP5', 'BP3', '21248749', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'We have identified six individuals with deletions limited to the BP3-BP4 interval and an additional four individuals with deletions of the BP3-BP5 interval from 34?046 samples submitted for clinical testing by microarray-based comparative genomic hybridization (aCGH).     ///    \"A comparison of clinical features, available for five individuals in our study (four with deletions within BP3-BP4 and one with a BP3-BP5 deletion), with those in the literature show common features of short stature and/or failure to thrive, microcephaly, hypotonia, and premature breast development in some individuals. \"'), ('8942', 'BP2_BP1', '', 'BP2', 'BP1', '21419731', '11', '', '', '', '', '', '', '', '', '', '[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]..     ///    Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.. '), ('8943', 'MLL_AF4', 't(4;11)(q21;q23) / t(4;11) / ', 'MLL', 'AF4', '21706045', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'MicroRNAs (miRNAs) targeting the AF4 3\' untranslated regions may modulate MLL-AF4 fusion protein levels, raising the question of whether regulation of these miRNAs are involved in the progression of MLL-AF4 ALL. '), ('8944', 'ZNF198_FGFR1', '', 'ZNF198', 'FGFR1', '17471537', '11', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Using KNK437, a specific inhibitor of HSP70 transcription, we have demonstrated that an important function of HSPA1A is to stabilize the ZNF198 and ZNF198-FGFR1 proteins.     ///    These observations suggest an important role for HSPA1A in ZNF198 and ZNF198-FGFR1 mediated cellular function..     ///    \"In the absence of HSPA1A, specific functions of ZNF198-FGFR1 such as STAT3 phosphorylation is also lost. \"    ///    \"HSPA1A is an important regulator of the stability and function of ZNF198 and its oncogenic derivative, ZNF198-FGFR1.. \"    ///    \"Treatment of cells with KNK437 in the presence of MG132, an inhibitor of proteasomal degradation of proteins, suggested that only the ZNF198-FGFR1 protein is subject to the proteasomal degradation pathway, while ZNF198 is not. \"    ///    Exogenous expression of the ZNF198-FGFR1 fusion kinase gene as well as ZNF198 in a model cell system results in a large (>650-fold) increase in HSP70 mRNA levels. '), ('8945', 'CD34_CD133', '', 'CD34', 'CD133', '12960322', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Although they harbored nonclonally rearranged TCRgamma genes, IL-15-primed CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs failed to achieve full maturation, as manifested in their CD3(-)TCRalphabeta(-)gammadelta(-) phenotype.     ///    \"At variance with CD34(+)lin(-) cells, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs maintained with IL-15, but not with IL-2 or IL-7, proliferated vigorously and differentiated into a homogeneous population of CD7(+)CD45(bright)CD25(+)CD44(+) lymphoid progenitors with high expression of the T cell-associated transcription factor GATA-3. \"    ///    We identified a novel subpopulation of CD34(-)CD133(-)CD7(-)CD45(dim)lineage (lin)(-) HSCs contained within human UCB that were endowed with low but measurable extended long-term culture-initiating cell activity.     ///    \"Collectively, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs from human UCB displayed an exquisite sensitivity to IL-15 and differentiated into lymphoid/NK cells. \"    ///    \"Exposure of CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs to stem cell factor preserved cell viability and was associated with the following: 1) concordant expression of the stem cell-associated Ags CD34 and CD133, 2) generation of CFU-granulocyte-macrophage, burst-forming unit erythroid, and megakaryocytic aggregates, 3) significant extended long-term culture-initiating cell activity, and 4) up-regulation of mRNA signals for myeloperoxidase. \"'), ('8946', 'SNURF_SNRPN', '', 'SNURF', 'SNRPN', '15470370', '11', 'swallowing disorders', '', '', '', '', '', '', '', '', 'Diagnosis was made by methylation pattern analysis of exon 1 of the SNRPN-SNURF gene and by microsatellite profiling of loci within and outside the 15q11-q13 region. '), ('8947', 'RET_PTC2', '', 'RET', 'PTC2', '10656692', '11', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'On the other hand, RET/PTC3 was detected only 7 days after X-irradiation, and no transcript of RET/PTC2 was detected.     ///    \"On the other hand, RET/PTC3 was induced at a much lower frequency, and no induction of RET/PTC2 was observed. \"'), ('8948', 'TLX1_HOXA9', '', 'TLX1', 'HOXA9', '18245528', '11', 'lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This subgroup can be identified either by TCR immunogenotyping or HOXA9/TLX1 transcript quantification. '), ('8949', 'BCR_ABL1', '', 'BCR', 'ABL1', '24859364', '11', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, the poorest outcomes among the 95 evaluable patients with BCR-ABL1 >10% at 3 months were identified by the rate of BCR-ABL1 decline from baseline, assessed by estimating the number of days over which BCR-ABL1 halved.     ///    Patients with BCR-ABL1 halving time <76 days (n = 74) had significantly superior outcomes compared with patients whose BCR-ABL1 values did not halve by 76 days (n = 21.     ///    Prognosis for patients with CML and >10% BCR-ABL1 after 3 months of imatinib depends on the rate of BCR-ABL1 decline..     ///    Our study highlighted that the rate of BCR-ABL1 decline may be a critical prognostic discriminator of the patients with very poor outcome among those >10% at 3 months.     ///    All outcomes were significantly superior for the 410 patients with BCR-ABL1 ?10% at 3 months (P < .001). '), ('8950', 'RET_PTC', '', 'RET', 'PTC', '15994200', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The activation of PKB by RET/PTC blocked the activity of the forkhead transcription factor, FKHRL1, but a Y315F mutant of PKB failed to inhibit FKHRL1 activity.     ///    \"In this study, we found that the thyroid-specific oncogenic RET/PTC tyrosine kinase is able to phosphorylate PKB in vitro and in vivo. \"    ///    \"In summary, these observations suggest that RET/PTC is able to phosphorylate the Y315 residue of PKB, an event that results in maximal activation of PKB for RET/PTC-induced thyroid tumorigenesis.. \"    ///    \"The PKB Y315 residue, which is known to be phosphorylated by Src tyrosine kinase, was also a major site of phosphorylation by RET/PTC. \"    ///    Regulation of protein kinase B tyrosine phosphorylation by thyroid-specific oncogenic RET/PTC kinases..     ///    RET/PTC-mediated tyrosine phosphorylation results in the activation of PKB kinase activity.     ///    \"RET/PTC-transfected cells showed tyrosine phosphorylation of endogenous and exogenous PKB, which was independent of phosphorylation of T308 and S473 regulated by the upstream kinases phosphoinositide-dependent kinase-1 and -2, respectively. \"'), ('8951', 'RET_PTC1', '', 'RET', 'PTC1', '16402937', '11', 'follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 and RET/PTC3 expression was evaluated by reverse transcriptase-polymerase chain reaction, whereas screening of BRAF (exon 15) and RAS (HRAS, KRAS2 and NRAS) mutations were performed, respectively, by single strand conformation polymorphism and denaturing high-pressure liquid chromatography.     ///    RET/PTC expression and BRAF mutations were mutually exclusive.     ///    RET/PTC expressions was positive in 5/43 (11.6%) PTC and in none of the non-PTC tumour. '), ('8952', 'DRD2_ANKK1', '', 'DRD2', 'ANKK1', '22728571', '11', 'binge drinking', '', 'Kinase', '', '', 'Receptor', '', '', '', 'The present study hypothesized that DRD2/ANKK1 TaqI A (rs1800497) genotype would moderate the relationship between alexithymia and an alcohol purchase task (APT) among male college binge drinkers.     ///    \"Five Bonferroni-corrected moderation models were tested using APT indices as the criteria, alexithymia as the predictor, and DRD2/ANKK1 TaqI A1 allele presence as the moderator. \"    ///    DRD2/ANKK1 TaqI A genotype moderates the relationship between alexithymia and the relative value of alcohol among male college binge drinkers.. '), ('8953', 'FLNA_EMD', '', 'FLNA', 'EMD', '18003915', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Moreover, inverted duplications flank the FLNA-EMD region in all 16 species for which high-quality sequence assemblies are available. '), ('8954', 'RET_PTC', '', 'RET', 'PTC', '17709622', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, both PD98059 and U0126 completely inhibited the growth of the PTC cells carrying a BRAF mutation but partially inhibited the growth of the PTC cells carrying the RET/PTC1 rearrangement.     ///    Differential responses of human papillary thyroid cancer cell lines carrying the RET/PTC1 rearrangement or a BRAF mutation to MEK1/2 inhibitors..     ///    Papillary thyroid carcinoma cell lines carrying the RET/PTC1 rearrangement (BHP2-7) or a BRAF mutation (BHP5-16).     ///    \"Using Western blot analysis, we detected the dephosphorylation of ERK1/2 in PTC cells carrying the RET/PTC1 rearrangement or a BRAF mutation after treating the cells with 2 MEK1/2 inhibitors (PD98059 and U0126). \"    ///    We treated PTC cells carrying the RET/PTC1 rearrangement or a BRAF mutation with 2 MEK1/2 inhibitors (PD98059 and U0126).     ///    \"In PTC, RET/PTC1 rearrangement or BRAF mutations results in constitutional activation of RET kinase or BRAF, respectively. \"'), ('8955', 'CYP11B2_CYP11B1', '', 'CYP11B2', 'CYP11B1', '26066897', '11', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'Chimeric CYP11B2/CYP11B1 causing 11?-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia..     ///    \"A chimeric CYP11B1/CYP11B2 gene causes glucocorticoid-remediable aldosteronism (GRA), while the rare CYP11B2/CYP11B1 chimeric gene leads to 11?-hydroxylase deficiency (11-OHD). \"    ///    \"We found that patient 1 and patient 2 harbored novel homozygotic chimeric CYP11B2/CYP11B1 genes consisting of the promoter, exons 1-6 of CYP11B2, and exons 7-9 of CYP11B1. \"    ///    Rare chimeric CYP11B2/CYP11B1 gene mutations are the underlying cause of disease in three patients with 11-OHD.     ///    The breakpoints to form Chimeric CYP11B2/CYP11B1 were not the same for the three patients. '), ('8956', 'BP3_BP1', '', 'BP3', 'BP1', '15470370', '11', 'swallowing disorders', '', '', '', '', '', '', '', '', 'There were no major phenotypic differences between the two main classes (BP1-BP3.     ///    \"BP2-BP3) of AS deletion patients, except for the absence of vocalization, more prevalent in patients with BP1-BP3 deletions, and for the age of sitting without support, which was lower in patients with BP2-BP3 deletions. \"    ///    \"Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning. \"'), ('8957', 'BP4_BP3', '', 'BP4', 'BP3', '19372089', '11', '', '', '', '', '', '', '', '', '', 'The limited data from the single family with the more proximal BP3-BP4 deletion suggest this deletion may have little clinical significance. '), ('8958', 'BP5_BP4', '', 'BP5', 'BP4', '18278044', '11', 'angelman syndrome;Prader Willi syndrome', '', '', '', '', '', '', '', '', 'The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. '), ('8959', 'RET_PTC', '', 'RET', 'PTC', '19380355', '11', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'After 3 weeks of oral administration of CI-1040 (300 mg/kg/d) to mice with orthotopic tumor implants of PTC cells, the mean tumor volume of implants bearing the RET/PTC1 rearrangement (n = 5) was reduced 47.5% compared with untreated mice (from 701.9 to 368.5 mm(3)), and the mean volume of implants with a BRAF mutation (n = 8) was reduced 31.3% (from 297.3 to 204.2 mm(3)).     ///    \"Because RET/PTC rearrangements are unique to thyroid carcinomas and a high percentage of PTCs possess either mutation, these findings support the clinical evaluation of CI-1040 for patients with PTC.. \"    ///    \"To test the effects of CI-1040 (PD184352), a specific MEK1/2 inhibitor, on PTC cells carrying either an RET/PTC1 rearrangement or a BRAF mutation. \"    ///    The concentrations of CI-1040 needed to inhibit 50% cell growth were 0.052microM for PTC cells with a BRAF mutation and 1.1microM for PTC cells with the RET/PTC1 rearrangement. '), ('8960', 'RET_PTC', '', 'RET', 'PTC', '10646882', '11', 'papillary carcinoma;thyloid cancer;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'and (c) confirm that RET/PTC rearrangements are the major genetic alteration associated with ionizing radiation-induced thyroid tumorigenesis..     ///    Twenty-five of this series of radiation-associated tumours were previously studied for the ras and RET/PTC oncogenes. '), ('8961', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18542058', '11', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' The high prevalence of TMPRSS2-ERG rearrangements ( approximately 60%) in prostate cancer (CaP) leads to androgenic induction of the ETS-related gene (ERG) expression.     ///    ERG knockdown in TMPRSS2-ERG expressing CaP cells induced striking morphological changes and inhibited cell growth both in cell culture and SCID mice. '), ('8962', 'SYT_SSX', '', 'SYT', 'SSX', '22726592', '11', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A 9-mer peptide spanning the SYT-SSX fusion region (B peptide) and its HLA-A*2402 anchor substitute (K9I) were synthesized.     ///    SYT-SSX breakpoint peptide vaccines in patients with synovial sarcoma: a study from the Japanese Musculoskeletal Oncology Group.. '), ('8963', 'DMD_BMD', '', 'DMD', 'BMD', '11388892', '11', '', '', '', '', '', '', '', '', '', ' Patterns of dystrophin gene deletions in DMD/BMD patients were compared in four populations: Turks (n = 146 deletions), Europeans (n = 838), North Indians (n = 89), and Indians from all over India (n = 103). '), ('8964', 'CD8_CD4', '', 'CD8', 'CD4', '18275833', '11', '', '', '', '', '', '', '', '', '', 'Here we show that the survival of activated pre-T cells induced by pre-TCR signaling required the Polycomb group (PcG) gene product Bmi-1-mediated repression of Cdkn2A, and that p19Arf expression resulted in thymocyte cell death and inhibited the transition from CD4(-)CD8(-) (DN) to CD4(+)CD8(+) (DP) stage upstream of the transcriptional factor p53 pathway. '), ('8965', 'BP2_BP1', '', 'BP2', 'BP1', '23864968', '11', 'cataract', '', '', '', '', '', '', '', '', 'The region is approximately 500?kb and microdeletions within the BP1-BP2 region have been reported in patients with developmental delay, behavioral abnormalities, and motor apraxia as well as dysmorphic features including hypertelorism, cleft or narrow palate, ear abnormalities, and recurrent upper airway infections.     ///    Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts.. '), ('8966', 'MLL_AF5Q31', '', 'MLL', 'AF5Q31', '20362031', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We demonstrated that MLL-AF4, MLL-AF5q31, and MLL-LAF4 activated Elk-1 transcription factor, one of the major downstream effectors of Ras.     ///    \"Elk-1-driven luciferase reporter system was used to study the role of MLL-AF4, MLL-AF5q31, MLL-LAF4, MLL-CDCrel, MLL-MSF, and MLL-Septin 6 in the activation of Ras signaling. \"'), ('8967', 'TPCN2_MYEOV', '', 'TPCN2', 'MYEOV', '21701773', '11', 'squamous cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The combination of copy number amplification at CTTN (core 2) and/or TPCN2/MYEOV (core 1), selected from each core, was most significantly associated with cervical LNM (P=0.0035). '), ('8968', 'BEX1_BCL2', '', 'BEX1', 'BCL2', '24626299', '11', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Our results revealed an interaction between BEX1 and BCL-2 and a novel mechanism of imatinib resistance mediated by the BEX1/BCL-2 pathway. '), ('8969', 'WT1_TBP', '', 'WT1', 'TBP', '16575000', '11', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'WT1 copy number was normalized by TATA box binding protein gene transcripts and expressed as WT1/TBP x 1,000 ratio. '), ('8970', 'RARA_PL', '', 'RARA', 'PL', '25815789', '11', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Rapid diagnosis of acute promyelocytic leukemia (APL) with promyelocytic leukemia-retinoic acid receptor alpha (PML-RARa) contributes to a highly effective therapy with all-trans retinoic acid (ATRA). '), ('8971', 'TRD_TRA', '', 'TRD', 'TRA', '25408163', '11', '', '', '', '', '', '', '', '', '', ' The TRA/TRD locus contains the genes for V(D)J somatic rearrangement of TRA and TRD chains expressed by ?? and ?? T cells respectively. '), ('8972', 'BP5_BP3', '', 'BP5', 'BP3', '26262844', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'This is the first report of a deletion at BP3-BP5 being linked to a deficit confined to language impairment, in the absence of ID, expanding the range of phenotypes that implicate the chromosome 15q13 locus. '), ('8973', 'BCR_ABL1', '', 'BCR', 'ABL1', '24480987', '11', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Horizontal transfer of BCR-ABL1 mRNA from MVs into the recipient cells was critical to the transformation.     ///    We found that MVs derived from K562 leukemia cells contained the breakpoint cluster region-Abelson leukemia gene human homolog 1 (BCR-ABL1) mRNA. '), ('8974', 'HEB_E2A', '', 'HEB', 'E2A', '17486074', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Reverse transcription-polymerase chain reaction results showed that the expression of certain E2A/HEB target genes was downregulated. '), ('8975', 'CAV1_AGS', '', 'CAV1', 'AGS', '23592983', '11', 'liver cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Infection of AGS/Cav1 cells triggered the recruitment of p120 RhoGTPase-activating protein/deleted in liver cancer-1 (p120RhoGAP/DLC1) to Cav1 and counteracted CagA-induced cytoskeletal rearrangements.     ///    \"pylori strain G27, were more sensitive to CagA-related cytoskeletal stress morphologies (\"\"humming bird\"\") compared to AGS cells stably transfected with Cav1 (AGS/Cav1). \"'), ('8976', 'RET_PTC3', '', 'RET', 'PTC3', '17786355', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In order to contribute to a better comprehension of the genetic basis of this neoplasm\'s more aggressive behaviour in 17 aneuploid PTCs we performed a comparative genomic hybridization (CGH) analysis, studied the BRAF and RAS mutational status, searched for RET/PTC1 and RET/PTC3 rearrangements and determined their expression profile.     ///    None of the studied cases presented RET/PTC1 or RET/PTC3 rearrangement. '), ('8977', 'HER2_EGF', '', 'HER2', 'EGF', '26328523', '11', 'breast carcinoma', '', '', '', '', '', '', '', '', 'Intracellular signaling mechanisms employed by BRMS1 include regulation of transcription, EGF/HER2 signaling, and expression of NF-kB, fascin, osteopontin, and IL-6. '), ('8978', 'RET_PTC', '', 'RET', 'PTC', '23806056', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Concomitant BRAF(V600E) mutation and RET/PTC rearrangement is a frequent occurrence in papillary thyroid carcinoma..     ///    The aim of this study was to determine the prevalence of concomitant BRAF(V600E) mutation and RET/PTC rearrangements in the same tumor and its association with some clinicopathological features.     ///    The present study demonstrates that concomitant BRAF mutation and RET/PTC rearrangement is a frequent event in PTC..     ///    \"Concomitant subclonal BRAF and RET/PTC were demonstrated in 14 PTCs (19.4%), and none of the oncogenes was detected in 22 tumors (30.5%). \"    ///    RET/PTC was present in 26 tumors (36.1%). '), ('8979', 'TIAM1_KCNJ6', '', 'TIAM1', 'KCNJ6', '24362460', '11', 'down syndrome\r\r', '', '', '', '', '', '', '', '', 'By generating and analyzing mouse mutants carrying different genomic rearrangements in human chromosome 21 (Hsa21) syntenic regions, we found the triplication of the Tiam1-Kcnj6 region on mouse chromosome 16 (Mmu16) resulted in DS-related cardiovascular abnormalities.     ///    \"In this study, we developed two tandem duplications spanning the Tiam1-Kcnj6 genomic region on Mmu16 using recombinase-mediated genome engineering, Dp(16)3Yey and Dp(16)4Yey, spanning the 2.1 Mb Tiam1-Il10rb and 3.7 Mb Ifnar1-Kcnj6 regions, respectively. \"'), ('8980', 'BP3_BP1', '', 'BP3', 'BP1', '23352739', '11', 'angelman syndrome', '', '', '', '', '', '', '', '', 'AS patients with BP1-BP3 deletion had significantly more daily and disabling seizures than AS patients with BP1-BP2 deletion.     ///    Need for polytherapy was significantly more frequent in BP1-BP3 patients. '), ('8981', 'BP3_BP2', '', 'BP3', 'BP2', '21359847', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'Those with this deletion are reported to have a more severe phenotype than individuals with either Type II deletions (BP2-BP3) or uniparental disomy 15. '), ('8982', 'BP2_BP1', '', 'BP2', 'BP1', '21359847', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes that are not imprinted. '), ('8983', 'BCR_ABL1', '', 'BCR', 'ABL1', '21732333', '11', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Mutations at the gatekeeper residues of BCR-ABL1 (eg, the threonine-to-isoleucine mutation at codon 315) and other oncogenic kinases have proven highly resistant to currently available TKIs.     ///    The rise and fall of gatekeeper mutations? The BCR-ABL1 T315I paradigm..     ///    \"Imatinib mesylate, a breakpoint cluster region-Abelson BCR-ABL1 inhibitor, was the first TKI approved in cancer medicine and has served as a model for the development of similar agents for other cancers. \"'), ('8984', 'CHD1L_ALC1', '', 'CHD1L', 'ALC1', '21824431', '11', '', '', '', '', '', '', '', '', '', 'The function of two top genes from 1q21.1, CHD1L/ALC1 and PRKAB2, was studied in detail in LBCs from a deletion and a duplication carrier.     ///    \"CHD1L/ALC1 is an enzyme with a role in chromatin modification and DNA damage response while PRKAB2 is a member of the AMP kinase complex, which senses and maintains systemic and cellular energy balance. \"    ///    The protein levels for CHD1L/ALC1 and PRKAB2 were changed in concordance with their copy number in both LBCs.     ///    \"Our studies are unique as they show for the first time that the 1q21.1 CNV not only causes changes in the expression of its key integral genes, associated with changes at the protein level, but also results in changes in their known function, in the case of AMPK, and newly identified function such as DCC activation in the case of CHD1L/ALC1. \"    ///    \"This defect, reproduced by CHD1L/ALC1 siRNA, identifies a new role of CHD1L/ALC1 in DCC. \"'), ('8985', 'RET_PTC3', '', 'RET', 'PTC3', '8562477', '11', 'neuroblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'To verify the role of RET in neuronal differentiation, we introduced into the human neuroblastoma cell line SK-N-BE four versions of the RET oncogene, activated by different mechanisms: RET/PTC1 and RET/PTC3, which are activated by rearrangement with heterologous genes. '), ('8986', 'RET_PTC3', '', 'RET', 'PTC3', '10656692', '11', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'On the other hand, RET/PTC3 was detected only 7 days after X-irradiation, and no transcript of RET/PTC2 was detected.     ///    \"On the other hand, RET/PTC3 was induced at a much lower frequency, and no induction of RET/PTC2 was observed. \"'), ('8987', 'BCR_ABL1', '', 'BCR', 'ABL1', '7786776', '11', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The translocation event was characterized further in three other patients by amplifying the reciprocal ABL-BCR junction on the 9q+ chromosome and also normal ABL around breakpoints. '), ('8988', 'RET_PTC', '', 'RET', 'PTC', '19487296', '11', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here, through cellular and molecular characterization of the two most common RET/PTC rearrangements (PTC1 and PTC3), we show that RET/PTC oncoproteins are highly oncogenic when overexpressed, with the ability to increase cell proliferation and transformation.     ///    \"Further, RET/PTCs activate similar downstream signaling cascades to wild-type RET, although at different levels, and are relatively more stable as they avoid lysosomal degradation. \"    ///    Transcript level modulates the inherent oncogenicity of RET/PTC oncoproteins.. '), ('8989', 'TNXA_RP2', '', 'TNXA', 'RP2', '10343159', '11', 'arthritis', '', 'Kinase', '', '', '', '', '', '', 'An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis..     ///    This recombination results in a new MHC haplotype with a CYP21B gene and a TNXB/TNXA-RP2 recombinant between the two C4 genes. '), ('8990', 'BP2_BP1', '', 'BP2', 'BP1', '22922608', '11', '', '', '', '', '', '', '', '', '', 'We identified 21 patients carrying 15q11.2 BP1-BP2 deletion and 12 patients carrying 15q11.2 BP1-BP2 duplication in this cohort, which represent 1.27% (21/1,654) and 0.7% (12/1,654) of the patients analyzed, respectively.     ///    Our observations provide further evidence in favor of a strong association of 15q11.2 BP1-BP2 deletion with a variety of neuropsychiatric disorders.     ///    \"In addition, possible etiological effects of 15q11.2 BP1-BP2 duplication in neuropsychiatric disorders are proposed.. \"'), ('8991', 'MECP2_CDKL5', '', 'MECP2', 'CDKL5', '19564653', '11', 'Rett syndrome', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'The entire multi-exon coding sequence of FOXG1 was screened for point mutations and large rearrangements in a cohort of 35 MECP2/CDKL5 mutation-negative female patients including 31 classical and four congenital forms of RTT. '), ('8992', 'ETO_AML1', '', 'ETO', 'AML1', '14630076', '11', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Mutations and rearrangements at the FLT3, AML1/ETO, CBFbeta/MYH11, AML1, CEBPalpha and MLL genes were investigated using standard molecular methods. '), ('8993', 'P130_E2F4', '', 'P130', 'E2F4', '22179826', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'p27Kip1 represses transcription by direct interaction with p130/E2F4 at the promoters of target genes..     ///    We report here a new cellular function of p27 as a transcriptional regulator in association with p130/E2F4 complexes that could be relevant for tumorigenesis. '), ('8994', 'LST1_BAT3', '', 'LST1', 'BAT3', '9601938', '11', '', '', '', '', '', '', '', '', '', 'In the relatively recently founded Finnish population, where the LST1/BAT3 interval recombination has probably not yet had the chance to occur, a founder effect can explain the presence of a rare DP (DPB1(*)1601) allele in most B60D haplotypes in this population.. '), ('8995', 'TAL1_SCL', '', 'TAL1', 'SCL', '14604958', '11', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', ' Aberrant expression of transcription factor oncogenes such as HOX11, HOX11L2, TAL1/SCL, LYL1, LMO1, and LMO2 can be detected in lymphoblasts from up to 80% of patients with acute T-cell lymphoblastic leukemia (T-ALL). '), ('8996', 'DMD_BMD', '', 'DMD', 'BMD', '1618490', '11', 'muscular dystrophy', '', '', '', '', '', '', '', '', 'Whether the dystrophin open reading frame (ORF) is maintained constrains the distribution of DMD/BMD deletions such that BMD deletions tend to be strikingly homogeneous.     ///    \"Finally, the conservation of the dystrophin ORF and the severity of the clinical phenotype were concordant in 95% of the DMD/BMD deletions documented by this work.. \"'), ('8997', 'E47_E12', '', 'E47', 'E12', '12118370', '11', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'This inactivity correlates with either reduced levels or even a complete lack of several B cell-specific transcription factors required for their expression: Oct-2, OBF-1, PU.1, E47/E12, PAX-5 and EBF. '), ('8998', 'MLL_LAF4', '', 'MLL', 'LAF4', '20362031', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We demonstrated that MLL-AF4, MLL-AF5q31, and MLL-LAF4 activated Elk-1 transcription factor, one of the major downstream effectors of Ras.     ///    \"Elk-1-driven luciferase reporter system was used to study the role of MLL-AF4, MLL-AF5q31, MLL-LAF4, MLL-CDCrel, MLL-MSF, and MLL-Septin 6 in the activation of Ras signaling. \"'), ('8999', 'CD8_CD4', '', 'CD8', 'CD4', '10329625', '11', '', '', '', '', '', '', '', '', '', 'We also observed that cell surface CD4(-)CD8(-)CD3(-) cells with rearranged TCR genes developed from Id3-transduced but not from control-transduced pre-T cells in an FTOC. '), ('9000', 'NEU_ERBB2', '', 'NEU', 'ERBB2', '2905033', '11', 'breast carcinoma;breast carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A 5 kb c-erbB-2/neu gene transcript was detected in the 103 cancer specimens analyzed.     ///    Amplification (3 to greater than 30 fold) of the c-erbB-2/neu gene was observed in 20% of cancers. '), ('9001', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '18602667', '11', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'There were PAX8-PPARgamma rearrangement and N-RAS mutation. '), ('9002', 'KRT18_TRAP ', '', 'KRT18', 'TRAP ', '24394404', '11', '', '', '', '', '', '', '', '', '', 'In addition, expression of a ribosomal fusion protein (EGFP-Rpl10a) in krt18:TRAP transgenic fish allows for enrichment of translated biliary cell mRNAs via translating ribosome affinity purification (TRAP). '), ('9003', 'PP2A_PP1', '', 'PP2A', 'PP1', '22023725', '11', '', '', '', '', '', '', '', '', '', 'In this study, we show that the initial enlargement and rounding-up of IGCs correlate with a decrease in mRNA transcription and are caspase-independent, but involve protein phosphatases PP1/PP2A. '), ('9004', 'BCR_ABL1', '', 'BCR', 'ABL1', '23107779', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Genetic lesions such as BCR-ABL1, E2A-PBX1, and MLL rearrangements (MLLr) are associated with unfavorable outcomes in adult B-cell precursor acute lymphoblastic leukemia (B-ALL).     ///    \"We identify a novel clinically actionable biomarker in B-ALLs: IL2RA (CD25), which is linked with BCR-ABL1 and an inflammatory signaling network associated with chemotherapy resistance. \"    ///    \"The E2993 trial clinical data showed that CD25 expression was strongly associated with a poor outcome in patients with ALL regardless of BCR-ABL1 status, suggesting CD25 as a novel prognostic biomarker for risk stratification in B-ALLs. \"'), ('9005', 'RET_PTC', '', 'RET', 'PTC', '20459574', '11', 'follicular adenoma;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'It is suggested that HTTs lacking both a miRNA expression pattern characteristic for PTC and RET/PTC rearrangements are re-designated as \'hyalinizing trabecular adenomas\'..     ///    All HTTs lacked BRAF mutations and RET/PTC rearrangements.     ///    \"Furthermore, the two common genetic alterations characteristic for PTC, the V600E mutation of the BRAF gene and RET/PTC 1 and 3 rearrangements, were determined in all HTTs. \"'), ('9006', 'KU80_KU70', '', 'KU80', 'KU70', '19680243', '11', '', '', '', '', '', '', '', '', '', 'Notably, histone macroH2A1.1 senses PARP1 activation, transiently compacts chromatin, reduces the recruitment of DNA damage factor Ku70-Ku80 and alters gamma-H2AX patterns, whereas the splice variant macroH2A1.2, which is deficient in poly-ADP-ribose binding, does not mediate chromatin rearrangements upon PARP1 activation. '), ('9007', 'YAP_TAZ', '', 'YAP', 'TAZ', '25491506', '11', '', '', '', '', '', '', '', '', '', 'The kinase cascade of MST1/2 and LATS1/2 and the coupling transcription co-activators YAP/TAZ represent the core components of the Hippo pathway.     ///    \"Unexpectedly, recent elegant studies demonstrated that stimulation of some G protein-coupled receptors (GPCRs), such as lysophosphatidic acid receptor, sphingosine-1-phosphate receptor, and the protease activated receptor PAR1, causes potent YAP/TAZ dephosphorylation and activation by promoting actin cytoskeleton assemble. \"'), ('9008', 'PTD_MLL', '', 'PTD', 'MLL', '16029447', '11', '', '', '', '', '', '', '', '', '', 'Analysis for further mutations revealed no MLL-PTD and KIT mutations and only two cases of 99 analysed (2%) with NRAS mutations. '), ('9009', 'RET_PTC', '', 'RET', 'PTC', '19095577', '11', 'polyposis\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thr1493Thr gene variant was found in the neoplastic cells along with RET/PTC rearrangement. '), ('9010', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '15908956', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The transformed leukemia-initiating stem cells in both P190 and P210 BCR-ABL1 ALLs had, as in ETV6-RUNX1 ALLs, a committed B progenitor phenotype.     ///    \"In all patients, normal and leukemic repopulating stem cells could successfully be separated prospectively, and notably, the size of the normal HSC compartment in ETV6-RUNX1 and P190 BCR-ABL1 ALLs was found to be unaffected by the expansive leukemic stem cell population.. \"    ///    Primary ETV6-RUNX1 (also known as TEL-AML1) fusions and subsequent leukemic transformations were targeted to committed B-cell progenitors. '), ('9011', 'TRIM32_ASTN2', '', 'TRIM32', 'ASTN2', '25351777', '11', 'Bardet-Biedl syndrome;limb-girdle muscular dystrophy', '', '', '', '', '', 'Transcription_Factor', '', '', 'These observations illustrate the importance of high-throughput technologies for identifying molecular defects in LGMD, confirm that total loss of function of TRIM32 is not associated with a specific phenotype and that TRIM32/ASTN2 inactivation could be associated with cognitive impairment. '), ('9012', 'MAOB_MAOA', '', 'MAOB', 'MAOA', '8613523', '11', '', '', '', '', '', '', '', '', '', 'In contrast to the borderline mental retardation and abnormal behavioral phenotype in subjects with selective MAO-A deficiency and the severe mental retardation in patients with combined MAO-A/MAO-B deficiency and Norrie disease, the MAO-B-deficient subjects exhibit neither abnormal behavior nor mental retardation. '), ('9013', 'DAZ2_DAZ1', '', 'DAZ2', 'DAZ1', '15744033', '11', 'male infertility;oligozoospermia', '', '', '', '', '', '', '', '', 'Together with published data, our analysis of DAZ gene copy suggested that the contribution of the different deletions to male infertility varies: only partial AZFc deletions removing DAZ1/DAZ2 seem to be associated with spermatogenic impairment, whereas those removing DAZ3/DAZ4 may have no or little effect on fertility. '), ('9014', 'JUN_FOS', '', 'JUN', 'FOS', '23815097', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The TP functionality anchors the c-Fos protein onto the metal substrate and works as an effective SERS probe to sense the structural rearrangements associated with the c-Fos/c-Jun heterodimerization. '), ('9015', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '26179878', '11', 'alport syndrome;leiomyomatosis', '', '', '', '', '', '', '', '', 'Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.. '), ('9016', 'TP53_ATM', '', 'TP53', 'ATM', '21151023', '11', 'chronic lymphocytic leukemia;leukemia\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'P=0.005), (b) in progressive patients, class II deletions were enriched (P=0.02) and (c) this association was independent of IgVH mutational status, ZAP70 expression and ATM/TP53 deletion. '), ('9017', 'MET_HGF', '', 'MET', 'HGF', '25806181', '11', 'non small cell lung cancer;non small cell lung cancer;small cell lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Deregulation of the HGF/MET signaling pathway can occur via different mechanisms, including HGF and/or MET overexpression, MET gene amplification, mutations or rearrangements. '), ('9018', 'FGFR1OP2_FGFR1', '', 'FGFR1OP2', 'FGFR1', '20587502', '11', 'thyloid cancer;leukemia\r\r', '', 'Kinase', '', '', '', '', 'KB', '', 'We readily identified for the first time the genomic fusion sequences of CCDC6-RET in TPC-1 cells and FGFR1OP2-FGFR1 in KG-1 cells. '), ('9019', 'RET_PTC1', '', 'RET', 'PTC1', '11807785', '11', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Establishment of a non-tumorigenic papillary thyroid cell line (FB-2) carrying the RET/PTC1 rearrangement..     ///    FB-2 cells harbor the RET/PTC1 chimeric oncogene in which the RET kinase domain is fused to the H4 gene. '), ('9020', 'TEL1_ETV6', '', 'TEL1', 'ETV6', '10828014', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'For example, the TEL1/ETV6 (TEL1) gene is required for normal yolk sac angiogenesis, adult bone marrow hematopoiesis, and is rearranged or deleted in numerous leukemias.     ///    \"Identification and characterization of a new human ETS-family transcription factor, TEL2, that is expressed in hematopoietic tissues and can associate with TEL1/ETV6.. \"    ///    DNA binding assays show that TEL2 can bind the same consensus DNA binding sequence recognized by TEL1/ETV6. '), ('9021', 'PDGFRA_ABL1', '', 'PDGFRA', 'ABL1', '20107158', '11', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '7 patients) showed significantly increased normalized expression levels compared to 191 patients with fusion gene-negative eosinophilia or healthy individuals (PDGFRA/ABL: 0.73 versus 0.0066 versus 0.0064, P<0.0001. '), ('9022', 'TEL_AML1', '', 'TEL', 'AML1', '19483156', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'When analyzed in other subgroups of patients such as those at standard and high risk at diagnosis, those with positive B-derived CD10, patients positive for the TEL/AML1 transcript, and patients in morphological remission on a day 28 marrow, the event-free survival rate was found to be significantly lower in patients with positive minimal residual disease on day 28. '), ('9023', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23940108', '11', 'ewing sarcoma;prostate cancer;sarcoma\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'We performed an integrative study of genome-wide DNA-binding and transcription data in EWSR1/FLI1 expressing ES and TMPRSS2/ERG containing PC cells. '), ('9024', 'TEL_MN1', 't(12;22)  / ', 'TEL', 'MN1', '16912223', '11', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Recently, it has been shown in a mouse model that the fusion protein MN1-TEL can promote growth of primitive hematopoietic progenitor cells (HPCs) and, in cooperation with HOXA9, induce AML. '), ('9025', 'SRF_MAL', '', 'SRF', 'MAL', '23940119', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Loss of Bcr reduced expression of multiple markers of differentiation (such as desmoglein-1 [Dsg1], keratin-1, and loricrin) and abrogated MAL/SRF signaling in differentiating keratinocytes. '), ('9026', 'AMP_ABP', '', 'AMP', 'ABP', '7180602', '11', '', '', '', '', '', '', '', '', '', 'Rapid changes in PPR occurring during monitoring can be explained by a change in MABP/ABP-AMP relationship, regardless whether ABP changes influence intracranial elastance or not.    ///    \"Rapid changes in PPR occurring during monitoring can be explained by a change in MABP/ABP-AMP relationship, regardless whether ABP changes influence intracranial elastance or not. \"    ///    In accordance with the theoretical assumptions the quotient MABP/ABP-AMP was found to be suitable to express these opposite effects on PPR. '), ('9027', 'TGFBR2_TGFBR1', '', 'TGFBR2', 'TGFBR1', '20648054', '11', 'Ehlers-Danlos syndrome;marfan syndrome', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Although mutations in FBN1 and TGFBR1/TGFBR2 account for the majority of AD cases referred to us for molecular genetic testing, we have obtained negative results for these genes in a large cohort of AD patients, suggesting the involvement of additional genes or acquired factors.     ///    \"caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations). \"'), ('9028', 'ERK1_BDNF', '', 'ERK1', 'BDNF', '27098701', '11', '', '', '', '', '', '', '', '', '', 'We argue that BDNF-ERK1/2 in the mOFC is a key regulator of \"online\" goal-directed action selection. '), ('9029', 'TNXB_TNXA', '', 'TNXB', 'TNXA', '10207042', '11', 'congenital adrenal hyperplasia\r\r', '', '', '', '', '', '', '', '', 'In a patient with congenital adrenal hyperplasia, we discovered a TNXB-TNXA recombinant with the deletion of RP2-C4B-CYP21B. '), ('9030', 'RET_PTC3', '', 'RET', 'PTC3', '16402937', '11', 'follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 and RET/PTC3 expression was evaluated by reverse transcriptase-polymerase chain reaction, whereas screening of BRAF (exon 15) and RAS (HRAS, KRAS2 and NRAS) mutations were performed, respectively, by single strand conformation polymorphism and denaturing high-pressure liquid chromatography. '), ('9031', 'RET_PTC', '', 'RET', 'PTC', '22191389', '11', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The multikinase inhibitor Sunitinib has been shown to inhibit the kinase activity of the RET oncogene and reduce proliferation in differentiated thyroid cancer cells harboring the RET/PTC rearrangement. '), ('9032', 'CCNE_CDK2', '', 'CCNE', 'CDK2', '25959964', '11', 'leukemia;breast cancer\r\r', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'In normal cells, cyclin E/Cdk2 activity is associated with DNA replication-related functions. '), ('9033', 'MIR491_KIAA1797', '', 'MIR491', 'KIAA1797', '21128281', '11', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'In addition, two genomic deletions were encountered encompassing two microRNA genes, hsa-mir-491/KIAA1797 and hsa-mir-646/AK309218. '), ('9034', 'OTT_MAL', 't(1;22)  / t(1;22)(p13;q13) / ', 'OTT', 'MAL', '11344311', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Because almost all of the sequences and all of the identified domains of both OTT and MAL proteins are included in the predicted fusion protein, the OTT-MAL fusion could aberrantly modulate chromatin organization, Hox differentiation pathways, or extracellular signaling.. '), ('9035', 'BP5_BP4', '', 'BP5', 'BP4', '25077648', '11', '', '', '', '', '', '', '', '', '', 'No BP4-BP5 deletions were identified in 23,838 adult controls. '), ('9036', 'RET_PTC', '', 'RET', 'PTC', '21947652', '11', 'thyloid cancer;breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The rearranged during transfection/papillary thyroid carcinoma (RET/PTC) tyrosine kinase is an oncogene implicated in the tumorigenesis of thyroid cancer.     ///    \"These results demonstrate a novel pathway of ER and FOXA1 transcription factor crosstalk in regulating RET/PTC kinase expression, and demonstrate that RET/PTC kinase is a critical regulator for the proliferation of ER-positive breast cancer cells. \"    ///    \"Using reporter assays, small interfering RNA (siRNA) assays, and chromatin immunoprecipitation (ChIP) assays, we demonstrated the necessity of crosstalk between ER and the forkhead box A1 (FOXA1) transcription factor in regulating RET/PTC kinase expression. \"    ///    We found that estrogen rapidly induces RET/PTC kinase expression in an ER-dependent manner in breast cancer cells and that this induction is through a transcriptional regulatory mechanism.     ///    \"We found that RET/PTC kinase expression correlates with estrogen receptor (ER) expression in breast cancer cells and tumor specimens, and that RET/PTC kinase expression is associated with a poor prognosis in ER-positive breast cancer patients. \"    ///    \"Conversely, knockdown of RET/PTC expression was associated with the inhibition of these same kinase signaling pathways, and, in fact, decreased the stimulatory effect of estrogen on the proliferation of ER-positive breast cancer cells. \"    ///    Recent studies by us and others have shown that RET/PTC kinase expression is induced by estrogen in breast cancer cells.     ///    \"In functional studies, increased expression of RET/PTC kinase induced by estrogen stimulation resulted in elevated phosphorylation of multiple downstream kinase signaling pathways. \"    ///    \"Due to the critical involvement of estrogen-regulated genes in the pathogenesis of breast cancer, we investigated the expression, regulation, and function of RET/PTC kinase in breast cancer cells. \"    ///    \"Taken together, our study suggests that RET/PTC kinase may serve as a novel prognostic biomarker and therapeutic target for prevention and treatment of ER-positive breast cancer.. \"'), ('9037', 'BCR_ABL1', '', 'BCR', 'ABL1', '15611260', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Thus, inhibition of BCR-ABL1 in pre-B ALL cells 1) recapitulates early B cell development, 2) directly shows that IGK, KDE, and IGL genes are rearranged in sequential order, and 3) provides a model for Ig L chain gene regulation in the human..     ///    We studied whether inhibition of BCR-ABL1 kinase activity using STI571 can relieve this differentiation block.     ///     The BCR-ABL1 kinase expressed in acute lymphoblastic leukemia (ALL) drives malignant transformation of pre-B cells and prevents further development. '), ('9038', 'ZAC1_PLAGL1', '', 'ZAC1', 'PLAGL1', '17063461', '11', 'pleomorphic adenoma\r\r', '', '', '', '', '', '', '', '', ' Lost-on-transformation 1 (LOT1) (PLAGL1/ZAC1) is a member of the novel subfamily of zinc-finger transcription factors, designated as PLAG family.     ///    LOT1 (ZAC1/PLAGL1) and its family members: mechanisms and functions.. '), ('9039', 'CD8_CD4', '', 'CD8', 'CD4', '22225978', '11', 'AIDS', '', '', '', '', '', '', '', '', ' CD4 count or CD4/CD8 ratio has been found to be a valuable marker of disease progression in HIV and AIDS.     ///    \"Demographic and clinical information were entered into a database and included: type of surgical procedure, age, peripheral blood cells, plasma albumin, CD4 counts, and CD4/CD8 ratios. \"    ///    \"Likewise, the incidence of postoperative sepsis in the patients with preoperative CD4/CD8 ratios ? 0.15 was dramatically higher than those with CD4/CD8 ratios > 0.15 (90% versus 36%. \"    ///    Preoperative CD4 count or CD4/CD8 ratio may be used as a useful indicator for postoperative sepsis in HIV-infected patients undergoing abdominal operations..     ///    \"In sepsis group, the mean preoperative and postoperative CD4 counts, CD4/CD8 ratios, and postoperative platelet count were found significantly lower, respectively, than those in non-sepsis group (P < 0.05). \"    ///    Preoperative CD4 count or CD4/CD8 ratio as a useful indicator for postoperative sepsis in HIV-infected patients undergoing abdominal operations..     ///    Our objective was to evaluate preoperative CD4 count or CD4/CD8 ratio as a useful indicator for postoperative sepsis in HIV-infected patients undergoing abdominal operations.     ///    Our preliminary study showed that HIV-infected patients with preoperative CD4 count ? 200 cells/?L or CD4/CD8 ratio ? 0.15 had overall higher postoperative sepsis morbidity.     ///    \"Furthermore, we stratified and compared the incidence of postoperative sepsis according to the preoperative CD4 counts with breakpoint value of 200 cells/?L and preoperative CD4/CD8 ratios with breakpoint value of 0.15. \"'), ('9040', 'PTEN_AKT1', '', 'PTEN', 'AKT1', '26328888', '11', 'squamous cell carcinoma\r\r', '', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Focused analysis of target genes of four therapy-responsive circulating miRNAs, identified in a previous study on HNSCC patients, revealed a major impact on the pathways direct P53 effectors, the E2F transcription factor network and pathways in cancer (mainly represented by the PTEN/AKT signaling pathway).     ///    The findings of our study suggest potential therapeutic targets in the E2F transcription factor network and the PTEN/AKT signaling pathway.. '), ('9041', 'NET_CHIF', '', 'NET', 'CHIF', '23035204', '11', '', '', '', '', '', '', '', '', '', 'In vitro susceptibilities of yeast species to fluconazole and voriconazole as determined by the 2010 National China Hospital Invasive Fungal Surveillance Net (CHIF-NET) study.. '), ('9042', 'CD8_CD4', '', 'CD8', 'CD4', '17786048', '11', '', '', '', '', '', '', '', '', '', 'We showed that constitutive activation of the Hh pathway in thymocytes (by transgenic expression of the transcriptional activator form of Gli2) decreased TCR signal strength with profound consequences for the thymus--allowing self-reactive T cells to escape deletion and altering T cell CD4/CD8 lineage decisions. ');
INSERT INTO `ChimerPub_dump` VALUES ('9043', 'BP3_BP2', '', 'BP3', 'BP2', '12668608', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'The BP2-BP3 chromosome 15q11-q13 inversion was detected in four of 44 subjects (9%) of the general population (P<0.004).     ///    \"Interestingly, the BP2-BP3 region is inverted in the mouse draft genome sequence with respect to the human draft sequence. \"'), ('9044', 'BP4_BP3', '', 'BP4', 'BP3', '21248749', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'Although the BP3-BP4 deletion does not yet demonstrate statistically significant enrichment in abnormal populations compared with control populations, the presence of common clinical features among probands and the presence of genes with roles in development and nervous system function in the deletion region suggest that this deletion may have a role in abnormal phenotypes in some individuals..     ///    We have identified six individuals with deletions limited to the BP3-BP4 interval and an additional four individuals with deletions of the BP3-BP5 interval from 34?046 samples submitted for clinical testing by microarray-based comparative genomic hybridization (aCGH).     ///    \"Of four individuals with BP3-BP4 deletions for whom parental testing was conducted, two were apparently de novo and two were maternally inherited. \"    ///    \"A comparison of clinical features, available for five individuals in our study (four with deletions within BP3-BP4 and one with a BP3-BP5 deletion), with those in the literature show common features of short stature and/or failure to thrive, microcephaly, hypotonia, and premature breast development in some individuals. \"'), ('9045', 'BP5_BP4', '', 'BP5', 'BP4', '21248749', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'Several individuals with deletions flanked by BP3 and BP4 on 15q13, immediately distal to, and not including the Prader-Willi/Angelman syndrome (PW/AS) critical region and proximal to the BP4-BP5 15q13.3 microdeletion syndrome region, have been reported. '), ('9046', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '14517961', '11', 'leiomyomatosis\r\r', '', '', '', '', '', '', '', '', 'By comparing this deletion to others described here and previously, we have defined a minimal overlap region, only 4.2 kb in length and containing the COL4A5-COL4A6 proximal promoters, loss of which contributes to smooth muscle overgrowth. '), ('9047', 'NTKL_BP1', '', 'NTKL', 'BP1', '15781263', '11', '', '', '', '', '', '', '', '', '', 'Recently, we identified a novel mouse gene, mNTKL-BP1 (NTKL-binding protein 1), encoding a protein interacting with NTKL. '), ('9048', 'RET_PTC', '', 'RET', 'PTC', '18676765', '11', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Because RET/PTC rearrangements are unique to thyroid carcinomas, our findings support the clinical evaluation of sorafenib for patients with PTC and the identification of patients most likely to respond to sorafenib treatment..     ///    \"The concentration needed for 50% growth inhibition (GI(50)) by sorafenib was 0.14 mumol/L for the PTC cells with the RET/PTC1 rearrangement, and 2.5 mumol/L for PTC cells with a BRAF mutation, both readily achievable serum concentrations. \"    ///    Sorafenib potently inhibits papillary thyroid carcinomas harboring RET/PTC1 rearrangement..     ///    \"After 3 weeks of oral administration of sorafenib (80 mg/kg/d) in mice, small (94% reduction compared with controls) or no tumor growth was detected in mice inoculated with PTC cells bearing the RET/PTC1 rearrangement, whereas the tumor volume of the orthotopic tumor implants of PTC cells with a BRAF mutation was reduced 53% to 54% (as compared with controls). \"    ///    PTC cells carrying the RET/PTC1 rearrangement were more sensitive to sorafenib than PTC cells carrying a BRAF mutation. '), ('9049', 'RET_PTC', '', 'RET', 'PTC', '12853977', '11', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC expression has been demonstrated to inhibit transcription of thyroid-specific genes.     ///    \"Acute expression of RET/PTC3 or RET/PTC3(Y541F), but not PTC2/PDZ, inhibited TSH-induced Tg and NIS expression, suggesting that activation of Shc-Ras, but not PLCgamma, is required for RET/PTC-induced dedifferentiation. \"    ///    \"In conclusion, activation of the Ras/Raf/MEK/MAPK pathway through Shc mediates RET/PTC-induced thyroid cell dedifferentiation. \"    ///    \"Acute expression of RET/PTC(Y541F) appropriately interacted with Shc, an intermediate in the activation of the Ras pathway, but failed to activate PLCgamma. \"    ///    RET/PTC-induced dedifferentiation of thyroid cells is mediated through Y1062 signaling through SHC-RAS-MAP kinase..     ///    This suggests that inhibition of this pathway may promote redifferentiation in poorly differentiated thyroid carcinomas with constitutive activation of either Ras or RET/PTC.. '), ('9050', 'NCOA2_LACTB2', '', 'NCOA2', 'LACTB2', '25823027', '11', 'colorectal cancer;colon cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A tumor-specific LACTB2-NCOA2 fusion originating from intra-chromosomal rearrangement of chromosome 8 was identified at both DNA and RNA levels.     ///    \"Enforced expression of wild-type NCOA2 but not the LACTB2-NCOA2 fusion protein impaired the pro-tumorigenic phenotypes of CRC cells, whereas knockdown of endogenous NCOA2 in normal colonocytes had opposite effects. \"    ///    \"This chimeric LACTB2-NCOA2 transcript was detected in 6 out of 99 (6.1%) colorectal cancer (CRC) cases, where NCOA2 was significantly downregulated. \"'), ('9051', 'PIK3_AKT1', '', 'PIK3', 'AKT1', '21551259', '11', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET encodes a receptor with tyrosine kinase activity that targets several intracellular signaling cascades, such as RAS-RAF-ERK1/2, PIK3-AKT, and STAT transcription factors. '), ('9052', 'COL4A6_COL4A5', '', 'COL4A6', 'COL4A5', '9465897', '11', 'leiomyomatosis\r\r', '', '', '', '', '', '', '', '', 'Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.. '), ('9053', 'NEU_ERBB2', '', 'NEU', 'ERBB2', '2560622', '11', 'human mammary carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'c-erbB.2/neu transcripts from the nude mice tumors were of normal size.     ///    \"In order to characterize the mechanism of activation of the c-erbB.2/neu oncogene, we isolated and analyzed this gene from one of the tumors. \"    ///    The c-erbB.2/neu gene was identified in two tumors and two ras oncogenes in two other tumors. '), ('9054', 'BP5_BP4', '', 'BP5', 'BP4', '20506139', '11', '', '', '', '', '', '', '', '', '', 'We propose that size differences among small microduplications result from preexisting heterogeneity of the common BP4-BP5 inversion. '), ('9055', 'P160_SRC', '', 'P160', 'SRC', '21322031', '11', '', '', 'Kinase', '', '', '', '', '', '', ' The transcriptional activity of androgen receptor (AR) is regulated by the sequential binding of various ligands (e.g., dihydrotestosterone, DHT) and coactivators (e.g., SRC/p160) to the AR ligand binding domain (LBD) (Askew et al., J Biol Chem 2007. '), ('9056', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15608688', '11', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Taken together, our findings further support that follicular carcinomas with a PAX8-PPAR(gamma) rearrangement constitute a distinct biological entity.     ///    Expression profiling reveals a distinct transcription signature in follicular thyroid carcinomas with a PAX8-PPAR(gamma) fusion oncogene..     ///    \"The PAX8-PPAR(gamma)(+) FTCs grouped in a defined cluster, where highly ranked genes were mostly associated with signal transduction, cell growth and translation control. \"    ///    \"In the present study, we compared the gene expression profiles of follicular thyroid carcinomas (FTCs) bearing a PAX8-PPAR(gamma) fusion against FTCs that lack this fusion. \"    ///     The demonstration of the PAX8-PPAR(gamma) fusion oncogene in a subset of follicular thyroid tumors provides a new and promising starting point to dissect the molecular genetic events involved in the development of this tumor form.     ///    \"Using unsupervised clustering and multidimensional scaling analyses, we show that FTCs possessing a PAX8-PPAR(gamma) fusion have a highly uniform and distinct gene expression signature that clearly distinguishes them from FTCs without the fusion. \"    ///    The current data represent one step to elucidate the molecular pathways in the development of FTCs with the specific PAX8-PPAR(gamma) fusion.. '), ('9057', 'RARA_PML', '', 'RARA', 'PML', '23056333', '11', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Finally, since PML/Pml is normally expressed in the HSPCs of both humans and mice, and since some human APL samples contain TCR rearrangements and express T lineage genes, we suggest that the very early hematopoietic expression of PML-RARA in this mouse model may closely mimic the physiologic expression pattern of PML-RARA in human APL patients..     ///    \"We originally targeted PML-RARA expression with CTSG regulatory elements, based on the early observation that this gene was maximally expressed in cells with promyelocyte morphology. \"'), ('9058', 'HEB_E2A', '', 'HEB', 'E2A', '11588043', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Subsequently, the E2A/HEB-induced TCR gene recombination patterns were compared with those in early thymocytes and acute lymphoblastic leukemias of T- and B-lineage origin, and it was found that the TCR rearrangements in the transfectants were early (immature) and not necessarily T-lineage specific. '), ('9059', 'BP2_BP1', '', 'BP2', 'BP1', '24778887', '11', 'arthrogryposis', '', '', '', '', '', '', '', '', 'Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features.     ///    Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?.     ///    The BP1-BP2 region spans approximately 500?kb and contains four evolutionarily conserved genes.     ///    \"We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. \"    ///    \"While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. \"'), ('9060', 'BP2_BP1', '', 'BP2', 'BP1', '23352739', '11', 'angelman syndrome', '', '', '', '', '', '', '', '', 'AS patients with BP1-BP3 deletion had significantly more daily and disabling seizures than AS patients with BP1-BP2 deletion. '), ('9061', 'CD200_BTLA', '', 'CD200', 'BTLA', '26137961', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'CD200/BTLA deletions were identified in 56 of the patients (4.8%) and were associated with an inferior 8-year event free survival in this treatment protocol [70.2% ? 1.2% for patients with deletions versus 83.5% ? 6.4% for non-deleted cases (hazard ratio 2.02.     ///    CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol..     ///    \"Genetically, CD200/BTLA deletions were strongly associated with ETV6-RUNX1-positive leukemias (P<0.0001), but were also identified in patients who did not have any genetic abnormality that is currently used for risk stratification. \"    ///    \"Within the latter population of patients, the presence of CD200/BTLA deletions was associated with inferior event-free survival and overall survival. \"'), ('9062', 'EML4_ALK', '', 'EML4', 'ALK', '23060067', '11', 'thyloid cancer;prostate cancer;leukemia;breast cancer;lung cancer;sarcoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this review, we will summarize the histologic features of known recurrent genomic rearrangements in carcinomas, especially focusing on TMPRSS2-ERG fusion in prostate cancer, EML4-ALK in lung cancer, ETV6-NTRK3 in secretory breast cancer, RET/PTC and PAX8/PPAR?1 rearrangements in thyroid cancer. '), ('9063', 'RET_PTC1', '', 'RET', 'PTC1', '10656692', '11', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Preferential induction of RET/PTC1 rearrangement by X-ray irradiation..     ///    \"High frequencies of RET/PTC rearrangements have been observed in radiation-associated PTC, such as those appearing post-Chernobyl or post-radiotherapy, but the rearrangement types differ between these two populations. \"    ///    \"In human normal thyroid tissues transplanted in scid mice, the RET/PTC1 rearrangement was predominantly detected throughout the observation period (up to 60 days) after X-ray exposure of 50 Gy. \"    ///    We investigated whether a specific type of RET/PTC rearrangement was induced by X-rays in vivo and in vitro.     ///    These results suggest that the preferential induction of the RET/PTC1 rearrangement may play an important role in the early steps of thyroid carcinogenesis induced by acute X-irradiation..     ///    \"The RET/PTC1 rearrangement was preferentially induced in a dose-dependent manner by X-rays within a high dose range (10, 50 and 100 Gy) in four cell lines. \"    ///    \"RET/PTC1, -2 and -3 are known to be the three major forms. \"'), ('9064', 'SR_PAF', '', 'SR', 'PAF', '14723019', '11', '', '', '', '', '', '', '', '', '', 'During sinus rhythm, the slope in paroxysmal atrial fibrillation with cardiovascular disease [PAF-SR (cvd+)] was steeper than that in paroxysmal atrial fibrillation without cardiovascular disease [PAF-SR (cvd-)] (p < 0.05).     ///    \"Although the slope was comparable between PAF-SR (cvd-) and CTR-SR, the slope in PAF-SR (cvd+) was steeper than that in CTR-SR (p < 0.05). \"    ///    \"The slope showed a significant correlation between PAF-SR and PAF-AF (r = 0.614, p < 0.01). \"'), ('9065', 'LNP_HNP', '', 'LNP', 'HNP', '20980989', '11', '', '', '', '', '', '', '', '', '', 'For this, we identified HR/LR rats and HNP/LNP rats before any exposure to cocaine. '), ('9066', 'HOXD9_HOXD13', '', 'HOXD9', 'HOXD13', '11778160', '11', '', '', '', 'Oncogene', '', '', '', '', '', 'A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly..     ///    \"By sequencing directly across the deletion breakpoint, we show that this microdeletion removes only HOXD9-HOXD13 and EVX2. \"'), ('9067', 'BCR_ABL1', '', 'BCR', 'ABL1', '26391311', '11', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The mechanisms of BCR-ABL1 point mutations, amplification of the BCR-ABL1 gene and increased expression of efflux drug transporters, which play important roles in resistance, have been extensively described.     ///    \" Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the causative oncoprotein BCR-ABL1 (Breakpoint-cluster region/Abelson kinase), which is a fusion protein with constitutive tyrosine kinase activity. \"'), ('9068', 'LHX3_LDB1', '', 'LHX3', 'LDB1', '22848397', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Solution structure of the LIM-homeodomain transcription factor complex Lhx3/Ldb1 and the effects of a pituitary mutation on key Lhx3 interactions..     ///    \"Here, we use small-angle X-ray scattering of an Ldb1-Lhx3 complex to confirm that in solution the protein is well represented by our previously determined NMR structure as an ensemble of conformers each comprising two well-defined halves (each made up of LIM domain from Lhx3 and the corresponding binding motif in Ldb1) with some flexibility between the two halves. \"'), ('9069', 'SYT_A24', '', 'SYT', 'A24', '12133991', '11', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'These peptides were tested for their reactivity with CTL precursors (CTLps) in 16 synovial sarcoma patients using HLA-A24/SYT-SSX peptide tetramers and also for induction of specific CTLs from four HLA-A24(+) synovial sarcoma patients. '), ('9070', 'PSIBRCA1_BRCA1', '', 'PSIBRCA1', 'BRCA1', '11933198', '11', 'breast cancer\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination..     ///    \"We show that the breakpoints for this deletion are in BRCA1 intron 2 and between NBR2 and exon 2 of psiBRCA1, raising the possibility that this deletion arose via a novel mechanism involving BRCA1:psiBRCA1 recombination. \"'), ('9071', 'PDGFRB_ABL1', '', 'PDGFRB', 'ABL1', '20107158', '11', '', 'PCR', 'Kinase', 'Oncogene', '', 'Receptor', '', '', '', 'PDGFRB/ABL: 196 versus 3.8 versus 5.85, P<0.0001). '), ('9072', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '26865464', '11', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We concluded that FUS-DDIT3 is uniquely regulated at the transcriptional as well as the post-translational level and that its expression level is important for MLS tumour development.     ///    \"FUS-DDIT3 transcription was regulated by the FUS promotor, while its mRNA stability depended on the DDIT3 sequence. \"    ///    \"In addition, in vitro as well as in vivo FUS-DDIT3 protein expression data displayed highly variable expression levels between individual MLS cells. \"    ///    Combined mRNA and protein analyses at the single-cell level showed that FUS-DDIT3 protein expression was inversely correlated to the expression of cell proliferation-associated genes.     ///    \"FUS-DDIT3 showed a lower expression than normal FUS at both the mRNA and protein levels, and single-cell analysis revealed a lack of correlation between FUS-DDIT3 and FUS expression. \"    ///    \"We investigated the regulatory mechanisms, expression levels and effects of FUS-DDIT3 in detail. \"    ///    \"FUS-DDIT3 protein stability was regulated by protein interactions through the FUS part, rather than the leucine zipper containing DDIT3 part. \"    ///    \"Regulatory mechanisms, expression levels and proliferation effects of the FUS-DDIT3 fusion oncogene in liposarcoma.. \"    ///    \"Here we studied a subgroup of sarcomas and leukaemias characterized by the FET (FUS, EWSR1, TAF15) family of fusion oncogenes, including FUS-DDIT3 in myxoid liposarcoma (MLS). \"'), ('9073', 'CREB_ATF', '', 'CREB', 'ATF', '17767158', '11', '', '', '', '', '', '', '', '', '', 'Thus, we propose that transcriptional readout mediated at least in part by a Wnt11 --> ATF/CREB --> TGFbeta2 pathway is critical in regulating morphogenesis in response to noncanonical Wnt signaling..     ///    Modulation of morphogenesis by noncanonical Wnt signaling requires ATF/CREB family-mediated transcriptional activation of TGFbeta2.. '), ('9074', 'RET_PTC1', '', 'RET', 'PTC1', '20629553', '11', 'retinoblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The objective of this study was to determine the effects of sunitinib on signal transduction pathways and on gene expression of iodide-metabolizing proteins in papillary cancer cells with the RET/PTC1 rearrangement.     ///    \"Sunitinib treatment of RET/PTC1 cell lines, in combination, with forskolin induced expression of the sodium (Na)/iodide (I) symporter (NIS) and the transcription factors that bind the NIS upstream enhancer. \"    ///    Incubation of RET/PTC1 cells with 1 microM sunitinib inhibited their migration potential and transformed their morphology.     ///    The mean 50% lethal concentration in the RET/PTC1 subclones was 1.81 microM.     ///    Sunitinib inhibited proliferation of RET/PTC1 subclones in a time- and dose-related manner.     ///    \"Sunitinib appears to target the cytosolic MEK/ERK and SAPK/JNK pathways in the RET/PTC1 cell lines, suggesting that blocking these pathways is at least part of the mechanism by which sunitinib inhibits cell proliferation and causes stimulation of NIS gene expression in RET/PTC1 cells.. \"'), ('9075', 'FCGR3_FCGR2', '', 'FCGR3', 'FCGR2', '9250863', '11', '', '', '', '', '', '', '', '', '', 'Considering FCGR2 and FCGR3 as a single locus, a three-point linkage analysis for [FCGR2/FCGR3], FCGR1, and INRA003 was carried out.     ///    \"Map distances in a two-point linkage analysis were 10.3 cM between [FCGR2/FCGR3] and FCGR1, and 25.5 cM between FCGR1 and INRA003, respectively. \"    ///    The best-supported order of the loci was found to be INRA003-FCGR1-[FCGR2/FCGR3]. '), ('9076', 'MEK_ERK', '', 'MEK', 'ERK', '18676765', '11', 'thyroid carcinoma\r\r', '', '', '', '', '', '', '', '', 'Both mutations are able to activate the MEK/ERK signaling transduction pathway and result in the activation of transcription factors that regulate cellular proliferation, differentiation, and apoptosis. '), ('9077', 'SR_CTR', '', 'SR', 'CTR', '14723019', '11', '', '', '', '', '', '', '', '', '', 'Although the slope was comparable between PAF-AF (cvd-) and CTR-SR, the slope in PAF-AF (cvd+) tended to be steeper than that in CTR-SR.     ///    \"Although the slope was comparable between PAF-SR (cvd-) and CTR-SR, the slope in PAF-SR (cvd+) was steeper than that in CTR-SR (p < 0.05). \"'), ('9078', 'BCR_ABL1', '', 'BCR', 'ABL1', '15908956', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In all patients, normal and leukemic repopulating stem cells could successfully be separated prospectively, and notably, the size of the normal HSC compartment in ETV6-RUNX1 and P190 BCR-ABL1 ALLs was found to be unaffected by the expansive leukemic stem cell population..     ///    \"The transformed leukemia-initiating stem cells in both P190 and P210 BCR-ABL1 ALLs had, as in ETV6-RUNX1 ALLs, a committed B progenitor phenotype. \"    ///    \"Major breakpoint BCR-ABL1 fusions (encoding P210 BCR-ABL1) originated in hematopoietic stem cells (HSCs), whereas minor BCR-ABL1 fusions (encoding P190 BCR-ABL1) had a B-cell progenitor origin, suggesting that P190 and P210 BCR-ABL1 ALLs represent largely distinct tumor biological and clinical entities. \"'), ('9079', 'TC10_CDC42', '', 'TC10', 'CDC42', '17884942', '11', '', '', '', '', '', '', '', '', '', 'Thus, it is likely that insulin activation of actin treadmilling through Cdc42/TC10 and neuronal Wiskott-Aldrich syndrome protein activates PAK and prolactin gene transcription.. '), ('9080', 'CD8_CD3', '', 'CD8', 'CD3', '10329625', '11', '', '', '', '', '', '', '', '', '', 'We also observed that cell surface CD4(-)CD8(-)CD3(-) cells with rearranged TCR genes developed from Id3-transduced but not from control-transduced pre-T cells in an FTOC. '), ('9081', 'RET_PTC', '', 'RET', 'PTC', '11117781', '11', 'papillary carcinoma;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'None of the control follicular adenomas contained rearrangements of RET/PTC.     ///    \"Finally, in one mixed HTT-papillary carcinoma sample, RET/PTC1 expression was detected, but only in the papillary component. \"    ///    RET/PTC activation in hyalinizing trabecular tumors of the thyroid.. '), ('9082', 'DAZ4_DAZ3', '', 'DAZ4', 'DAZ3', '15744033', '11', 'male infertility;oligozoospermia', '', '', '', '', '', '', '', '', 'Together with published data, our analysis of DAZ gene copy suggested that the contribution of the different deletions to male infertility varies: only partial AZFc deletions removing DAZ1/DAZ2 seem to be associated with spermatogenic impairment, whereas those removing DAZ3/DAZ4 may have no or little effect on fertility. '), ('9083', 'P16_P15', '', 'P16', 'P15', '8649864', '11', 'retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'Two cell lines, MGR3 and HBT28, revealed hemizygous deletion of the p16 and p15 genes combined with indistinguishable rearrangements of the remaining p15-p16 locus that resulted in loss of exon 2 sequences for p15 and p16, but retention of p16 exon 1.     ///    \"MGR2, which retained a single wild-type p15-p16 locus, showed expression of p16 transcript, but not of p16 protein as indicated by Western blot analysis. \"'), ('9084', 'BP2_BP1', '', 'BP2', 'BP1', '14508708', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'These observations support a model in which duplications of the HERC2 gene at BP3 in primates first flanked the four-gene cassette, with subsequent transposition of these four unique genes by a HERC2 duplicon-mediated process to form the BP1-BP2 region. '), ('9085', 'BP3_BP2', '', 'BP3', 'BP2', '15470370', '11', 'swallowing disorders', '', '', '', '', '', '', '', '', 'BP2-BP3) of AS deletion patients, except for the absence of vocalization, more prevalent in patients with BP1-BP3 deletions, and for the age of sitting without support, which was lower in patients with BP2-BP3 deletions.     ///    \"Our data suggest that gene deletions (NIPA1, NIPA2, CYF1P1, GCP5) mapped to the region between breakpoints BP1 and BP2 may be involved in the severity of speech impairment, since all BP1-BP3 deletion patients showed complete absence of vocalization, while 38.1% of the BP2-BP3 deletion patients were able to pronounce syllabic sounds, with doubtful meaning. \"'), ('9086', 'SAPK_JNK1', '', 'SAPK', 'JNK1', '10231436', '11', '', '', '', '', '', '', '', '', '', 'Treatment of MCs with IL-1 alpha induced a time-dependent increase in JNK1/SAPK kinase activity, assessed by phosphorylation of the activating transcription factor-2 (ATF-2).     ///    \"Furthermore, stimulation of MCs with the exogenous cyclooxygenase-, lipoxygenase-, phosphodiesterase-, and epoxygenase-derived arachidonate metabolites, in contrast to AA itself, did not activate JNK1/SAPK. \"    ///    \"MCs were grown from collagenase-treated glomeruli, and JNK/SAPK activity in MC lysates was determined using an immunocomplex kinase assay. \"    ///    \"This effect was AA specific, as only AA and its precursor linoleic acid stimulated JNK1/SAPK activity. \"    ///    Other fatty acids failed to activate JNK1/SAPK.     ///    \"Pretreatment of MCs with specific inhibitors of AA oxidation by cyclooxygenase, lipoxygenase, and cytochrome P-450 epoxygenase had no effect on either IL-1- or AA-induced JNK1/SAPK activation. \"    ///    \"We conclude that IL-1-stimulated AA release, in part, mediates stimulation of JNK1/SAPK activity and that AA activates JNK1/SAPK by a mechanism that does not require enzymatic oxygenation. \"    ///    \"The JNK1 pathway has been implicated in cell fate decisions, and IL-1 stimulates the Jun N-terminal/stress-activated protein kinases (JNK1/SAPK). \"    ///    \"Pretreatment of MCs with aristolochic acid, a PLA2 inhibitor, concordantly reduced IL-1-regulated [3H]AA release and JNK1/SAPK activity, suggesting that cytosolic AA in part mediates IL-1-induced JNK1/SAPK activation. \"    ///    \"Free arachidonic acid (AA) activates several protein kinases, and because IL-1 rapidly stimulates phospholipase A2 (PLA2) activity release AA, IL-1-induced activation of JNK1/SAPK may be mediated by AA release. \"    ///    Addition of AA stimulated JNK1/SAPK activity in a time- and concentration-dependent manner. '), ('9087', 'MLL_ENL', '', 'MLL', 'ENL', '26311362', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'We applied transcription activator-like effector nuclease-mediated genome editing to generate endogenous MLL-AF9 and MLL-ENL oncogenes through insertional mutagenesis in primary human hematopoietic stem and progenitor cells (HSPCs) derived from human umbilical cord blood. '), ('9088', 'BCR_ABL1', '', 'BCR', 'ABL1', '23575065', '11', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this review, our current comprehension of BCR-ABL1 signaling will be summarized..     ///    \"Besides, we discuss why activation of BCR-ABL1, as an outcome of distinct oncogenic events, results in miscellaneous clinical outcomes, and how the intricacy of the BCR-ABL1 signaling network might dictate therapeutic approaches. \"    ///    In this particular review we discuss the oncogenes and tumor suppressors comprising the regulatory network upstream and downstream of BCR-ABL1 and dismantle how derailed BCR-ABL1 signaling provides cell a selective growth advantage.     ///    \"It is a well-established fact that through the aberrant activation of BCR-ABL1 signal transduction cascade, the perception of cellular growth signals becomes disconnected from the processes promoting cell growth, and this underlies the pathophysiology of leukemia. \"    ///    \"Breakpoint cluster region-c-abl oncogene 1, non-receptor tyrosine kinase signaling: current patterns of the versatile regulator revisited.. \"    ///    \" Increasing sophisticated information suggests that cancer cells express constitutively active oncogenic kinases such as breakpoint cluster region- c-abl oncogene 1, non-receptor tyrosine kinase (BCR-ABL1) that promote carcinogenesis independent of extrinsic growth factors. \"'), ('9089', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24045615', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In initial and validation analyses, SLX4IP deletions were significantly associated with male gender and ETV6/RUNX1-rearranged ALL (both overall P < 0.0001). '), ('9090', 'PMP22_EGR2', '', 'PMP22', 'EGR2', '22180461', '11', 'Charcot-Marie-Tooth Disease;peripheral neuropathy', '', '', '', '', '', 'Transcription_Factor', '', '', 'Using chromatin immunoprecipitation analysis of two transcription factors known to upregulate PMP22-EGR2 and SOX10-we found several enhancers in this upstream region that contain open chromatin and direct reporter gene expression in tissue culture and in vivo in zebrafish. '), ('9091', 'CD7_CD45', '', 'CD7', 'CD45', '12960322', '11', '', '', '', '', '', '', '', '', '', 'Although they harbored nonclonally rearranged TCRgamma genes, IL-15-primed CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs failed to achieve full maturation, as manifested in their CD3(-)TCRalphabeta(-)gammadelta(-) phenotype.     ///    \"At variance with CD34(+)lin(-) cells, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs maintained with IL-15, but not with IL-2 or IL-7, proliferated vigorously and differentiated into a homogeneous population of CD7(+)CD45(bright)CD25(+)CD44(+) lymphoid progenitors with high expression of the T cell-associated transcription factor GATA-3. \"    ///    We identified a novel subpopulation of CD34(-)CD133(-)CD7(-)CD45(dim)lineage (lin)(-) HSCs contained within human UCB that were endowed with low but measurable extended long-term culture-initiating cell activity.     ///    \"Collectively, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs from human UCB displayed an exquisite sensitivity to IL-15 and differentiated into lymphoid/NK cells. \"    ///    \"Exposure of CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs to stem cell factor preserved cell viability and was associated with the following: 1) concordant expression of the stem cell-associated Ags CD34 and CD133, 2) generation of CFU-granulocyte-macrophage, burst-forming unit erythroid, and megakaryocytic aggregates, 3) significant extended long-term culture-initiating cell activity, and 4) up-regulation of mRNA signals for myeloperoxidase. \"'), ('9092', 'TNXB_TNXA', '', 'TNXB', 'TNXA', '10343159', '11', 'arthritis', '', '', '', '', '', '', '', '', 'An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis..     ///    This recombination results in a new MHC haplotype with a CYP21B gene and a TNXB/TNXA-RP2 recombinant between the two C4 genes. '), ('9093', 'DMD_BMD', '', 'DMD', 'BMD', '2918522', '11', 'duchenne and Becker muscular dystrophy\r\r', '', '', '', '', '', '', '', '', 'This result shows that with the use of cDNA probes detecting deletions, the only risk of error in genomic prenatal diagnosis is the general high frequency of new mutations for DMD/BMD.     ///    \" Two cDNA probes, cf23a and cf56a, identify deletions of selected exons in about 50% of our DMD/BMD patients. \"'), ('9094', 'TCR_CD3', '', 'TCR', 'CD3', '16219537', '11', 'T cell lymphoma;hypereosinophilic syndrome;lymphoma\r\r', '', '', '', '', '', '', '', '', 'We show that a specific loss of CD3gamma gene transcripts is responsible for the defect in TCR/CD3 surface expression.     ///    Hypereosinophilic syndrome joins the growing number of pathological conditions where a defect in surface expression and/or function of the TCR/CD3 complex results from altered regulation of CD3gamma gene expression.. '), ('9095', 'MPO_CD8', '', 'MPO', 'CD8', '1890739', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'In 6 patients with CD7+ CD3- CD4- CD8- MPO- leukemia, only 2 patients had rearrangements and weak expressions of IgH, TCR gamma and delta chain genes. '), ('9096', 'CD5_CD19', '', 'CD5', 'CD19', '9369429', '11', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'All cases showed monoclonal CD5/CD19-positive lymphocytosis, with more than 10% large lymphocytes and/or prolymphocytes in peripheral blood smears and reactivity with FMC7, or bright expression of surface immunoglobulins in a fraction of the cases. '), ('9097', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26883104', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'BCR-ABL1, ETV6-RUNX1, E2A-PBX1, and MLL rearrangements (B-NEG ALL) and the differences between children, adolescents/young adults (AYA) and adults, we analyzed 168 B-NEG ALLs by genome-wide technologies. '), ('9098', 'STM_LGMD2H', '', 'STM', 'LGMD2H', '25351777', '11', 'Bardet-Biedl syndrome;limb-girdle muscular dystrophy', '', '', '', '', '', '', '', '', 'Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties in protein analysis. '), ('9099', 'CTNNB1_TCF', '', 'CTNNB1', 'TCF', '18498136', '11', 'esophageal cancer\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Frequently rearranged in advanced T-cell lymphomas-1 (FRAT1), overexpressed in some ESCC lines, is a positive regulator of beta-catenin/TCF pathway.     ///    \"In addition, FRAT1 overexpression induced the nuclear accumulation of beta-catenin and promoted the transcriptional activity of beta-catenin/TCF. \"    ///    FRAT1 overexpression leads to aberrant activation of beta-catenin/TCF pathway in esophageal squamous cell carcinoma..     ///    \"However, little is known about the molecular relationship between FRAT1 and beta-catenin/TCF in ESCC. \"    ///    \"Taken together, these results support the novel hypothesis that aberrant activation of beta-catenin/TCF pathway in esophageal cancer appears to be due to upstream events such as FRAT1 overexpression, and c-Myc may be an important element in oncogenesis of human ESCC induced by FRAT1.. \"'), ('9100', 'TSC2_PKD1', '', 'TSC2', 'PKD1', '22169896', '11', 'tuberous sclerosis complex\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome..     ///    TSC2 lies immediately adjacent to PKD1 and large heterozygous deletions can result in the TSC2/PKD1 contiguous gene syndrome (PKDTS). '), ('9101', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '26435130', '11', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', '', '', '', 'B-Raf proto-oncogene (BRAF) mutations are the most common mutations observed in papillary thyroid cancers (PTCs), followed by RET/PTC rearrangements and RAS mutations, while follicular thyroid cancers are more likely to harbor RAS mutations or PAX8/peroxisome proliferator-activated receptor ? (PPAR?) rearrangements. '), ('9102', 'ESR1_CCDC170', '', 'ESR1', 'CCDC170', '25099679', '11', 'breast cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', 'Seq', 'Recurrent ESR1-CCDC170 rearrangements in an aggressive subset of oestrogen receptor-positive breast cancers..     ///    \"Together, this study identifies neoplastic ESR1-CCDC170 fusions in a more aggressive subset of ER+ breast cancer, which suggests a new concept of ER pathobiology in breast cancer. \"'), ('9103', 'ETV6_AML1', '', 'ETV6', 'AML1', '19860194', '11', 'myeloid leukemia;leukemia;hematopoietic malignancy\r\r', '', '', '', '', '', '', '', '', 'These include fusion gene products such as BCR-ABL and ETV6-AML1, proteinase 3, WT1, human telomerase reverse transcriptase, cyclophilin B, and PRAME. '), ('9104', 'DMD_BMD', '', 'DMD', 'BMD', '9352094', '11', 'Duchenne and Becker muscular dystrophies', 'PCR', '', '', '', '', '', '', '', ' Analysis of 102 Polish Duchenne/Becker muscular dystrophy (D/BMD) patients was performed by \'multiplex\' amplification of 22 fragments of the DMD/BMD gene and deletions were found in 55% of the patients. '), ('9105', 'RET_PTC', '', 'RET', 'PTC', '14981541', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Papillary thyroid carcinomas are characterized by rearrangements of the RET receptor tyrosine kinase generating RET/PTC oncogenes.     ///    \"Here we show that osteopontin (OPN), a secreted glycoprotein, is a major RET/PTC-induced transcriptional target in PC Cl 3 thyroid follicular cells. \"    ///    \"OPN upregulation depended on the integrity of the RET/PTC kinase and tyrosines Y1015 and Y1062, two major RET/PTC autophosphorylation sites. \"    ///    \"Upregulation of CD44 was dependent on RET/PTC Y1062, as well. \"    ///    \"Constitutive OPN overexpression or treatment with exogenous recombinant OPN sharply increased proliferation, Matrigel invasion and spreading in collagen gels of RET/PTC-transformed PC Cl 3 cells. \"    ///    Autocrine stimulation by osteopontin plays a pivotal role in the expression of the mitogenic and invasive phenotype of RET/PTC-transformed thyroid cells..     ///    \"RET/PTC also induced a strong overexpression of CD44, a cell surface signalling receptor for OPN. \"    ///    These effects were impaired by the treatment of PC Cl 3-RET/PTC cells with OPN- and CD44-locking antibodies.     ///    \"Thus, RET/PTC signalling triggers an autocrine loop involving OPN and CD44 that sustains proliferation and invasion of transfomed PC Cl 3 thyrocytes.. \"'), ('9106', 'RET_PTC1', '', 'RET', 'PTC1', '17786355', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'None of the studied cases presented RET/PTC1 or RET/PTC3 rearrangement.     ///    \"In order to contribute to a better comprehension of the genetic basis of this neoplasm\'s more aggressive behaviour in 17 aneuploid PTCs we performed a comparative genomic hybridization (CGH) analysis, studied the BRAF and RAS mutational status, searched for RET/PTC1 and RET/PTC3 rearrangements and determined their expression profile. \"'), ('9107', 'FLI1_EWSR1', '', 'FLI1', 'EWSR1', '23940108', '11', 'ewing sarcoma;prostate cancer;sarcoma\r\r', '', '', '', '', '', '', '', 'Seq', 'We performed an integrative study of genome-wide DNA-binding and transcription data in EWSR1/FLI1 expressing ES and TMPRSS2/ERG containing PC cells.     ///    \"Thus, EWSR1/FLI1 appears to promote oncogenesis by simultaneously promoting cell proliferation and perturbing differentiation. \"    ///    \"While synergistic regulation in concert with E2F in the promoter of target genes has a generally activating effect, EWSR1/FLI1 binding independent of E2F3 is predominantly associated with repressed differentiation genes. \"    ///    \"Additionally, a detailed analysis of the regulatory targets of the characteristic EWSR1/FLI1 fusion in ES identifies two functionally distinct gene sets. \"'), ('9108', 'RET_PTC1', '', 'RET', 'PTC1', '9438393', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Expression of the RET/PTC1 oncogene impairs the activity of TTF-1 and Pax-8 thyroid transcription factors..     ///    \"We conclude that the RET/PTC1 oncogene alters the expression of the thyroid-differentiated phenotype by at least two different mechanisms, ie., down-regulation of Pax-8 protein and mRNA expression and impaired function of TTF-1 and Pax-8, which occurs at a posttranslational level.. \"    ///    We recently found that the expression of the RET/PTC1 oncogene blocked the expression of the thyroid-differentiated phenotype in rat thyroid epithelial cell line PC CI 3 (PC).     ///    \" The most frequent genetic alterations described thus far in human papillary thyroid carcinomas are somatic rearrangements of the RET proto-oncogene, which generate the chimeric RET/PTC oncogenes. \"'), ('9109', 'CDK1_CDC2', '', 'CDK1', 'CDC2', '27186291', '11', 'breast cancer;bladder cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Our results also showed that down-regulation of miR-3646 arrested the cells in G2/M phase in MCF7 and MDA-MB-231 cells which was accompanied by the down-regulation of CDK1/CDC2 and cyclin B1 and upregulation of p21Waf1/Cip1, p27 Kip1, and p53, suggesting that down-regulation of miR-3646 induces G2/M arrest through activation of the p53/p21/CDC2/cyclin B1 pathway. '), ('9110', 'BP5_BP4', '', 'BP5', 'BP4', '20236110', '11', '', '', '', '', '', '', '', '', '', 'Besides the classical approximately 1.5 Mb BP4-BP5 microdeletion, we also describe three index patients and two relatives with a smaller 500 kb microdeletion, including the CHRNA7 gene..     ///    \"Here, we describe a collaborative study reporting a new cohort of 12 index patients and 13 relatives carrying a heterozygous BP4-BP5 microdeletion out of a series of 4625 patients screened by array-CGH for DD. \"'), ('9111', 'RET_PTC1', '', 'RET', 'PTC1', '8562477', '11', 'neuroblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'To verify the role of RET in neuronal differentiation, we introduced into the human neuroblastoma cell line SK-N-BE four versions of the RET oncogene, activated by different mechanisms: RET/PTC1 and RET/PTC3, which are activated by rearrangement with heterologous genes. '), ('9112', 'BP2_BP1', '', 'BP2', 'BP1', '19328872', '11', 'angelman syndrome\r\r', '', '', '', '', '', '', '', '', 'The clinical significance of a pure BP1-BP2 microdeletion has been debated, however, our patients shared several clinical features, including delayed motor and speech development, dysmorphisms and behavioural problems (ADHD, autism, obsessive-compulsive behaviour).     ///    \"We describe nine cases with a microdeletion at 15q11.2 between BP1-BP2, thus having a haploinsufficiency for TUBGCP5, NIPA1, NIPA2, and CYFIP1 without Prader-Willi/Angelman syndrome. \"    ///    \"Our results suggest a pathogenic nature for the BP1-BP2 microdeletion and, although there obviously is an incomplete penetrance, they support the existence of a novel microdeletion syndrome in 15q11.2.. \"'), ('9113', 'HEB _E2A', '', 'HEB ', 'E2A', '20800819', '11', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'Significantly, NOTCH1, the pre-TCR pathway, and E2A/HEB proteins control critical checkpoints and branchpoints in early thymocyte development whereas several oncogenic transcription factors, HOXA9, c-MYB, SCL, and LYL-1 control HSC self-renewal. '), ('9114', 'TAL1_SCL', '', 'TAL1', 'SCL', '16298389', '11', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' The TAL-1/SCL gene encodes a basic helix-loop-helix (bHLH) transcription factor essential for primitive hematopoiesis and for adult erythroid and megakaryocytic development. '), ('9115', 'RET_PTC', '', 'RET', 'PTC', '18602667', '11', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No mutations were found for APC or BRAF genes, nor were RET/PTC rearrangements detected. '), ('9116', 'CD8_CD4', '', 'CD8', 'CD4', '25472997', '11', '', '', '', '', '', '', '', '', '', ' The Tcra/Tcrd locus undergoes V-D?-J? rearrangement in CD4(-)CD8(-) thymocytes to form the TCR? chain of the ?? TCR and V-J? rearrangement in CD4(+)CD8(+) thymocytes to form the TCR?-chain of the ?? TCR.     ///    \"Our results demonstrate that usage of TRAV15/DV6 family V gene segments for Tcrd recombination in double-negative thymocytes is regulated, at least in part, by intrinsic features of TRAV15/DV6 promoters, and argue that Tcra/Tcrd locus V? gene segments are defined by their local chromatin accessibility in CD4(-)CD8(-) thymocytes. \"'), ('9117', 'RET_PTC1', '', 'RET', 'PTC1', '25970781', '11', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' CCDC6 was originally identified upon rearrangement with RET in human thyroid papillary carcinomas generating the RET/PTC1 oncogene.     ///    \"Since the function of at least one allele of CCDC6 is lost following RET/PTC1 rearrangements, we aimed at the generation of mice, carrying a CCDC6 mutant gene. \"    ///    \"These results strongly support a CCDC6 promoting role, ascribed to its functional impairment, in the development of thyroid papillary carcinomas harboring the RET/PTC1 oncogene.. \"'), ('9118', 'MLL_ENL', '', 'MLL', 'ENL', '22689058', '11', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'However, the only known mechanisms that lead to EVI1 overexpression are 3q aberrations, and the MLL-ENL oncoprotein, which activates the transcription of EVI1 in hematopoietic stem cells. '), ('9119', 'CD7_CD133', '', 'CD7', 'CD133', '12960322', '11', '', '', '', '', '', '', '', '', '', 'Although they harbored nonclonally rearranged TCRgamma genes, IL-15-primed CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs failed to achieve full maturation, as manifested in their CD3(-)TCRalphabeta(-)gammadelta(-) phenotype.     ///    \"At variance with CD34(+)lin(-) cells, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs maintained with IL-15, but not with IL-2 or IL-7, proliferated vigorously and differentiated into a homogeneous population of CD7(+)CD45(bright)CD25(+)CD44(+) lymphoid progenitors with high expression of the T cell-associated transcription factor GATA-3. \"    ///    We identified a novel subpopulation of CD34(-)CD133(-)CD7(-)CD45(dim)lineage (lin)(-) HSCs contained within human UCB that were endowed with low but measurable extended long-term culture-initiating cell activity.     ///    \"Collectively, CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs from human UCB displayed an exquisite sensitivity to IL-15 and differentiated into lymphoid/NK cells. \"    ///    \"Exposure of CD34(-)CD133(-)CD7(-)CD45(dim)lin(-) HSCs to stem cell factor preserved cell viability and was associated with the following: 1) concordant expression of the stem cell-associated Ags CD34 and CD133, 2) generation of CFU-granulocyte-macrophage, burst-forming unit erythroid, and megakaryocytic aggregates, 3) significant extended long-term culture-initiating cell activity, and 4) up-regulation of mRNA signals for myeloperoxidase. \"'), ('9120', 'RET_PTC', '', 'RET', 'PTC', '23060067', '11', 'thyloid cancer;prostate cancer;leukemia;breast cancer;lung cancer;sarcoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this review, we will summarize the histologic features of known recurrent genomic rearrangements in carcinomas, especially focusing on TMPRSS2-ERG fusion in prostate cancer, EML4-ALK in lung cancer, ETV6-NTRK3 in secretory breast cancer, RET/PTC and PAX8/PPAR?1 rearrangements in thyroid cancer. '), ('9121', 'SSD_NOG', '', 'SSD', 'NOG', '25815513', '11', '', '', '', '', '', '', '', '', '', ' Microdeletions in chromosome 17q22, where the NOG gene resides, have been reported leading to the NOG-related symphalangism spectrum disorder (NOG-SSD), intellectual disability and other developmental abnormalities.     ///    \"In this study we reported a dominant Chinese Han family segregating with typical NOG-SSD symptoms including proximal symphalangism, conductive hearing loss, amblyopia and strabismus, but not intellectual disability. \"    ///    It is the first microdeletion reported in chromosome 17q22 that is associated with NOG-SSD only but not with intellectual disability.     ///    Our study also suggested that genomic deletions in chromosome 17q22 should be screened in the NOG-SSD patients in which no pathogenic mutation is identified by conventional sequencing methods. '), ('9122', 'TPR_MET', '', 'TPR', 'MET', '2052572', '11', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The TPR-MET oncogenic rearrangement is present and expressed in human gastric carcinoma and precursor lesions..     ///     The TPR-MET oncogenic rearrangement was originally observed in an in vitro transformed human osteosarcoma cell line.     ///    We report here the results of analysis of TPR-MET expression in cell lines derived from human gastric tumors and 22 biopsy samples of human gastric mucosa showing cancer or precursor lesions.     ///    Overexpression of TPR-MET RNA in superficial gastritis lesions with hyperplasia of glandular neck cells suggests the possible involvement of this oncogene at an early stage of gastric tumorigenesis. '), ('9123', 'NTRK3_ETV6', '', 'NTRK3', 'ETV6', '23060067', '11', 'thyloid cancer;prostate cancer;leukemia;breast cancer;lung cancer;sarcoma;lymphoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'In this review, we will summarize the histologic features of known recurrent genomic rearrangements in carcinomas, especially focusing on TMPRSS2-ERG fusion in prostate cancer, EML4-ALK in lung cancer, ETV6-NTRK3 in secretory breast cancer, RET/PTC and PAX8/PPAR?1 rearrangements in thyroid cancer. '), ('9124', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '23624918', '11', 'glial cell tumor', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Sporadic cases are associated with KIAA1549:BRAF fusion rearrangements, while 15-20% of children develop PA in the context of the neurofibromatosis 1 (NF1) inherited tumor predisposition syndrome.     ///    The unique predilection of these tumors to form within the optic pathway and brainstem (NF1-PA) and cerebellum (sporadic PA) raises the possibility that gliomagenesis requires more than biallelic inactivation of the NF1 tumor suppressor gene or expression of the KIAA1549:BRAF transcript.     ///    \"In this report, we highlight advances in Nf1-GEM modeling and review new experimental evidence that supports the emerging concept that Nf1- and KIAA1549:BRAF-induced gliomas arise from specific cell types in particular brain locations. \"'), ('9125', 'SEA_HPFH', '', 'SEA', 'HPFH', '16720553', '11', '', '', '', '', '', '', '', '', '', 'The results show that high HbF production in SEA-HPFH occurs from a deletion of the 3\'HS1 sequence and the juxtaposition of the HPFH-3 enhancer downstream to the delta-globin gene..     ///    \"Flow cytometry was used to compare EGFP expression from the pEBAC/148beta:EGFP construct with the HPFH-3 core enhancer immediately 5\' to the SEA-HPFH breakpoint (pEnH), from the pEBAC/148beta:EGFP construct with 8 kb of the breakpoint sequence and the HPFH-3 core enhancer (pSEA-HPFH), and from the construct with 3\'HS1 followed by the pSEA-HPFH sequence (pSEA-HPFH_3pHS1). \"'), ('9126', 'BCR_ABL1', '', 'BCR', 'ABL1', '26883104', '11', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1, ETV6-RUNX1, E2A-PBX1, and MLL rearrangements (B-NEG ALL) and the differences between children, adolescents/young adults (AYA) and adults, we analyzed 168 B-NEG ALLs by genome-wide technologies. '), ('9127', 'EML4_ALK', '', 'EML4', 'ALK', '23910397', '10', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'An EML4-ALK translocation was identified in an additional genetic test. '), ('9128', 'EML4_ALK', '', 'EML4', 'ALK', '24598368', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In 2011, regulatory entities granted conditional approval to an anaplastic lymphoma kinase inhibitor (crizotinib) based on an impressive overall response rate in previously treated non-small cell lung cancer patients whose tumors harbored EML4/ALK translocations.    ///    \"In 2011, regulatory entities granted conditional approval to an anaplastic lymphoma kinase inhibitor (crizotinib) based on an impressive overall response rate in previously treated non-small cell lung cancer patients whose tumors harbored EML4/ALK translocations. \"    ///    Overcoming the resistance to crizotinib in patients with non-small cell lung cancer harboring EML4/ALK translocation.. '), ('9129', 'EML4_ALK', '', 'EML4', 'ALK', '25789627', '10', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK translocation was more common in patients with younger age.    ///    EML4-ALK translocation was tested by Ventana method in EGFR-wild type patients (Cohort 2).     ///    \"In Cohort 2 analysis, 29 of 295 EGFR-wild type patients (9.8%) were positive for EML4-ALK translocation. \"    ///    \"Gender and smoking status were not correlated significantly with HER2, BRAF and EML4-ALK mutations.\"    ///    \"Gender and smoking status were not correlated significantly with HER2, BRAF and EML4-ALK mutations. \"    ///    \"Five oncogenic drivers, including EGFR, KRAS, BRAF, HER2 and EML4-ALK fusion mutations, were tested. \"'), ('9130', 'SYT_SSX1', '', 'SYT', 'SSX1', '15668803', '10', 'lung cancer', '', '', '', '', '', '', '', '', 'Late solitary bone metastasis of a primary pulmonary synovial sarcoma with SYT-SSX1 translocation type: case report with a long follow-up..     ///    \"This prolonged clinical course is uncommon for the SYT-SSX1 translocation, which, in other locations, is usually associated with an unfavorable prognosis.. \"    ///    Both neoplasms contained the SYT-SSX1 type of the diagnostic translocation t(X;18) as detected by the reverse-transcription polymerase chain reaction analysis. '), ('9131', 'FUS_DDIT3', '', 'FUS', 'DDIT3', '17653909', '10', 'liposarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Twelve of 13 tumours analysed before and/or after radiation therapy showed the FUS-DDIT3 translocation. '), ('9132', 'EML4_ALK', '', 'EML4', 'ALK', '24754584', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Combined point mutation in KRAS or EGFR genes and EML4-ALK translocation in lung cancer patients..     ///    \"First, a combined simultaneous KRAS mutation and EML4-ALK translocation, both in the main tumor and a bone metastasis, were observed, these mutations are assumed to mutually exclude each other. \"'), ('9133', 'SYT_SSX2', '', 'SYT', 'SSX2', '16226798', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The finding of the SYT-SSX2 translocation is generally associated with a better prognosis, besides tumor negative margins after excision offer the possibility of a better outlook for this patient.. '), ('9134', 'CALM_AF10', '', 'CALM', 'AF10', '16572206', '10', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'HOXA cluster deregulation in T-ALL associated with both a TCRD-HOXA and a CALM-AF10 chromosomal translocation.. '), ('9135', 'EML4_ALK', '', 'EML4', 'ALK', '23993685', '10', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we investigated if this reduced sensitivity also contributes to resistance to crizotinib, an ALK inhibitor of lung cancer that exhibits the EML4-ALK translocation.    ///    \"Here, we investigated if this reduced sensitivity also contributes to resistance to crizotinib, an ALK inhibitor of lung cancer that exhibits the EML4-ALK translocation. \"    ///    Epithelial-mesenchymal transition leads to crizotinib resistance in H2228 lung cancer cells with EML4-ALK translocation..     ///    \"Compared with H2228 cells, the growth of H2228/CR cells was independent of EML4-ALK, and H2228/CR cells showed cross-resistance to TAE-684 (a second-generation ALK inhibitor). \"'), ('9136', 'MLL_EPS15', '', 'MLL', 'EPS15', '22581003', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Molecular characterization of identical, novel MLL-EPS15 translocation and individual genomic copy number alterations in monozygotic infant twins with acute lymphoblastic leukemia.. '), ('9137', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '21601955', '10', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'TMPRSS2-ERG overexpresses ERG through an androgen-mediated response.    ///    TMPRSS2-ERG overexpresses ERG through an androgen-mediated response.     ///    \"Although the prognostic implications of TMPRSS2-ERG have not been fully elucidated, they constitutes a field of great diagnostic potential and, therefore, the development of techniques to identify and to analyze the presence and characteristics of this gene in a non-invasive fashion deserves great interest in this area. \"'), ('9138', 'LPP_HMGA2', '', 'LPP', 'HMGA2', '16133369', '10', 'pleomorphic adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'For example, HMGA2/LPP has been reported in lipoma, pulmonary chondroid hamartoma, and soft tissue chondroma. '), ('9139', 'SSX_SYT', 't(X;18)(p11.2;q11.2) / ', 'SSX', 'SYT', '17101797', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'We found that the SYT-SSX fusion protein produces a dominant-negative function for SYT, which is a transcriptional coactivator.     ///    The SYT-SSX fusion protein down-regulates the cell proliferation regulator COM1 in t(x;18) synovial sarcoma.     ///    \"Although SYT-SSX fusion proteins appear to trigger synovial sarcoma development, little is known about the downstream targets of SYT-SSX. \"    ///    The SYT-SSX fusion protein down-regulates the cell proliferation regulator COM1 in t(x;18) synovial sarcoma.. '), ('9140', 'SYT_SSX2', '', 'SYT', 'SSX2', '10396284', '10', 'synovial sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation t(X;18), which generates SYT-SSX1 and SYT-SSX2 fusion products, is a sensitive marker for synovial sarcoma. '), ('9141', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '18165275', '10', 'prostate cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', 'KB', 'Seq', 'Detection of TMPRSS2-ERG translocations in human prostate cancer by expression profiling using GeneChip Human Exon 1.0 ST arrays.. '), ('9142', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24687926', '10', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Immunohistochemical data were available for PTEN, p-Akt, pS6, stathmin, androgen receptor (AR), and ERG (as a measure of the TMPRSS2:ERG translocation).    ///    \"Immunohistochemical data were available for PTEN, p-Akt, pS6, stathmin, androgen receptor (AR), and ERG (as a measure of the TMPRSS2:ERG translocation). \"'), ('9143', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '21128251', '10', 'dermatofibrosarcoma,', '', '', 'Oncogene', '', '', '', 'KB', '', ' Dermatofibrosarcoma Protuberans (DFSP) carries a translocation resulting in the COL1A1/PDGFB fusion-gene, responsible for platelet derived growth factor beta receptor (PDGFRB) activation.     ///    \"Dermatofibrosarcoma Protuberans (DFSP) carries a translocation resulting in the COL1A1/PDGFB fusion-gene, responsible for platelet derived growth factor beta receptor (PDGFRB) activation.\"'), ('9144', 'SYT_SSX1', '', 'SYT', 'SSX1', '10396284', '10', 'synovial sarcoma;fibrous histiocytoma;sarcoma;histiocytoma\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation t(X;18), which generates SYT-SSX1 and SYT-SSX2 fusion products, is a sensitive marker for synovial sarcoma.     ///    \"One lesion with histologic, immunohistologic, and ultrastructural features indeterminate for a diagnosis of synovial sarcoma or malignant peripheral nerve sheath tumor was studied and was positive for SYT-SSX1. \"'), ('9145', 'KIF5B_RET', '', 'KIF5B', 'RET', '26076869', '10', 'small cell carcinoma;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, new molecular targets have been highlighted recently including BRAF mutations, HER2?or PI3K, new translocations such as ROS1?or KIF5B-RET.    ///    \"However, new molecular targets have been highlighted recently including BRAF mutations, HER2?or PI3K, new translocations such as ROS1?or KIF5B-RET. \"'), ('9146', 'ETV6_NTRK3', '', 'ETV6', 'NTRK3', '25456394', '10', 'acinic cell carcinoma;cystadenocarcinoma', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Mammary analogue secretory carcinoma (MASC) is a recently recognized salivary gland tumor harboring an ETV6-NTRK3 translocation similar to secretory carcinoma of the breast.    ///    The last of these methods was used to detect the ETV6-NTRK3 translocation.     ///    Characterization of mammary analogue secretory carcinoma of the salivary gland: discrimination from its mimics by the presence of the ETV6-NTRK3 translocation and novel surrogate markers..     ///     Mammary analogue secretory carcinoma (MASC) is a recently recognized salivary gland tumor harboring an ETV6-NTRK3 translocation similar to secretory carcinoma of the breast.     ///    \"Because differential diagnosis among zymogen granule-poor AciCC, MASC, and LGCCC tumors is challenging, we recommend using molecular genetic tests for ETV6-NTRK3 for accurate diagnosis. \"'), ('9147', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '23317202', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '9), TCF3-PBX1 (t 1.     ///    \"RFS with BCR-ABL, MLL-AF4, TCF3-PBX1 and SIL-TAL1 was less than 10 months (8.0, 3.6, 5.5 and 8.1 months, respectively). \"'), ('9148', 'RANBP2_ALK', '', 'RANBP2', 'ALK', '21030459', '10', 'neuroblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Here we report the identification of a secondary mutation in ALK, F1174L, as one cause of crizotinib resistance in a patient with an inflammatory myofibroblastic tumor (IMT) harboring a RANBP2-ALK translocation who progressed while on crizotinib therapy.     ///    \"Furthermore, the F1174L mutation inhibits crizotinib-mediated downregulation of ALK signaling and blocks apoptosis in RANBP2-ALK Ba/F3 cells. \"'), ('9149', 'MOZ_CBP', '', 'MOZ', 'CBP', '16193081', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Detection of MOZ-CBP fusion in acute myeloid leukemia with 8;16 translocation.     ///    Detection of MOZ-CBP fusion in acute myeloid leukemia with 8;16 translocation.. '), ('9150', 'EML4_ALK', '', 'EML4', 'ALK', '23897899', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'No patients with metastases from tumors with EGFR mutations (0/164 lesions) or EML4-ALK translocations (0/61 lesions) recurred in-field.    ///    \"This study suggests that EGFR kinase domain mutations and EML4-ALK translocations are radiosensitive NSCLC genotypes, and proposes a novel model to identify radiosensitive subtypes of NSCLC..\"    ///    \"This study suggests that EGFR kinase domain mutations and EML4-ALK translocations are radiosensitive NSCLC genotypes, and proposes a novel model to identify radiosensitive subtypes of NSCLC.. \"'), ('9151', 'NPM_ALK', 't(2;5)  / ', 'NPM', 'ALK', '11280786', '10', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM/ALK encodes a constitutively activated tyrosine kinase that belongs to the family of tyrosine kinases activated by chromosomal translocations.     ///    \"In conclusion, our data indicate that NPM/ALK constitutively activates the PI3K-Akt pathway and that this pathway plays an important role in the NPM/ALK-mediated malignant transformation.. \"    ///    \"Finally, the Akt mutant (K179M) suppressed the tumorigenicity of NPM/ALK-transfected BaF3 cells injected into syngeneic mice. \"    ///    \"Both PI3K and Akt kinase were permanently activated in NPM/ALK-transfected BaF3 murine hematopoietic cells and in NPM/ALK-positive, but not in NPM/ALK-negative, patient-derived anaplastic large cell lymphoma cell lines. \"    ///    PI3K was found in complex with NPM/ALK.     ///    \"Our studies showed that NPM/ALK, similar to other members of this family, activates phosphatidylinositol 3-kinase (PI3K) and its downstream effector, serine/threonine kinase (Akt). \"'), ('9152', 'EWSR1_FLI1', '', 'EWSR1', 'FLI1', '21987447', '10', 'osteosarcoma', 'PCR;ISH', '', '', '', '', '', 'KB', 'Seq', 'We report the case of a 12-year-old girl with multifocal small cell osteosarcoma positive for the Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement by interphase fluorescent in situ hybridization and negative for EWSR1-FLI1, EWSR1-ERG, and EWSR1-WT1 fusion transcripts by reverse transcriptase PCR.    ///    \"We report the case of a 12-year-old girl with multifocal small cell osteosarcoma positive for the Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement by interphase fluorescent in situ hybridization and negative for EWSR1-FLI1, EWSR1-ERG, and EWSR1-WT1 fusion transcripts by reverse transcriptase PCR. \"');
INSERT INTO `ChimerPub_dump` VALUES ('9153', 'SYT_SSX1', '', 'SYT', 'SSX1', '15140553', '10', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Previous studies have shown that SYT-SSX1 is the most common SYT-SSX fusion transcript in biphasic synovial sarcomas of the limbs.     ///    \" Synovial sarcoma (SS) is characterized by a chromosomal translocation resulting in the expression of an SYT-SSX chimeric transcript, usually SYT-SSX1 or SYT-SSX2. \"'), ('9154', 'EML4_ALK', '', 'EML4', 'ALK', '24781527', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Tumor genetics showed only two EGFR mutations, EGFR amplification in 17/47 samples, eight KRAS mutations, and five EML4-ALK translocations.    ///    \"Tumor genetics showed only two EGFR mutations, EGFR amplification in 17/47 samples, eight KRAS mutations, and five EML4-ALK translocations. \"'), ('9155', 'COL1A1_PDGFB', '', 'COL1A1', 'PDGFB', '17397592', '10', 'soft tissue neoplasm', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'The demonstration of the oncogenic power of the translocation COL1A1-PDGFB in DFSP has allowed the successful introduction of drug therapy with antagonists of the PDGFB receptor for metastatic or locally advanced cases..    ///    The demonstration of the oncogenic power of the translocation COL1A1-PDGFB in DFSP has allowed the successful introduction of drug therapy with antagonists of the PDGFB receptor for metastatic or locally advanced cases.. '), ('9156', 'SSX1_SS18', '', 'SSX1', 'SS18', '23716114', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'We confirmed the SS18-SSX1 translocation in all cell lines and identified a consistent splicing variant.     ///    We confirmed the presence of the SS18-SSX1 translocation in our cell lines and its importance in the survival of synovial sarcoma.     ///    SS18-SSX1 knockdown was achieved using a shRNA system.    ///    We (1) established and characterized three novel synovial sarcoma cell lines and asked (2) whether inhibition of SS18-SSX1 decreases cell viability in these cell lines.     ///    We achieved successful knockdown of SS18-SSX1 and with this saw a significant reduction in cell viability.     ///    and (3) whether reduction in viability after SS18-SSX1 knockdown is caused by apoptosis.     ///    Loss of SS18-SSX1 inhibits viability and induces apoptosis in synovial sarcoma.. '), ('9157', 'EML4_ALK', '', 'EML4', 'ALK', '23242444', '10', 'respiratory insufficiency', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Surviving respiratory insufficiency with intensive care support in a pretreated, extensively metastasized patient with an EML4-ALK translocation.    ///    \"Surviving respiratory insufficiency with intensive care support in a pretreated, extensively metastasized patient with an EML4-ALK translocation.. \"'), ('9158', 'EML4_ALK', '', 'EML4', 'ALK', '26775573', '10', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The EML4-ALK translocation is found in about 5% of NSCLC and more particularly in adenocarcinoma of young non-smoking patients.    ///    The EML4-ALK translocation is found in about 5% of NSCLC and more particularly in adenocarcinoma of young non-smoking patients. '), ('9159', 'U19_EAF2', '', 'U19', 'EAF2', '17044034', '10', 'acute myeloid leukemia;prostate cancer;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'U19/Eaf2 interacts with ELL, a fusion partner of MLL in the (11;19) (q23;p13.1) translocation in acute myeloid leukemia.     ///    Transfection and colony formation were used to assay for apoptosis and growth suppression of various U19/Eaf2 mutants.     ///     U19/Eaf2 is an androgen-response gene and its downregulation is frequently observed in advanced human prostate cancer.     ///    These observations argue that the interaction with ELL is essential for the induction of apoptosis and growth suppression by U19/Eaf2..     ///    The region of U19/Eaf2 essential for apoptosis and growth suppression was mapped to amino acids 68-113.     ///    U19/Eaf2 overexpression induces apoptosis and suppresses xenograft tumor growth.     ///    Co-expression of U19/Eaf2 and ELL in 293 cells lead to significant increase in cell death and growth suppression.     ///    Apoptosis induction and growth suppression by U19/Eaf2 is mediated through its ELL-binding domain..     ///    Co-immunoprecipitation was performed to test the interaction between the U19/Eaf2 constructs and ELL. '), ('9160', 'RARA_PL', '', 'RARA', 'PL', '16925116', '10', 'acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', ' Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by the chromosomal translocation t(15:17) that leads to the expression of promyelocytic leukemia/retinoic acid receptor-alpha (PML/ RARalpha) oncofusion protein.     ///    In vitro inhibition of promyelocytic leukemia/retinoic acid receptor-alpha (PML/RARalpha) expression and leukemogenic activity by DNA/LNA chimeric antisense oligos.. '), ('9161', 'NUP98_HOXA9', 't(1;11)(q23;p15) / t(7;11)(p15;p15) / t(2;11)(q35;p15) / inv(11)(p15;q22) / ', 'NUP98', 'HOXA9', '10397741', '10', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Like the NUP98-HOXA9 fusion, NUP98 and PMX1 were fused in frame and the N-terminal GLFG-rich docking region of the NUP98 and the PMX1 homeodomain were conserved in the NUP98-PMX1 fusion, suggesting that PMX1 homeodomain expression is upregulated and that the fusion protein may act as an oncogenic transcription factor. '), ('9162', 'RET_PTC1', '', 'RET', 'PTC1', '26259532', '10', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In tumorous samples, 86 BRAF (44.2%), 5 NRAS (3.1%), 2 HRAS (1.0%) and 1 KRAS (0.5%) mutations were found, as well as 9 RET/PTC1 (4.6%) and 1 RET/PTC3 (0.5%) translocations.     ///    \"Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer. \"'), ('9163', 'P53_HDM2', '', 'P53', 'HDM2', '17110209', '10', '', '', '', '', '', '', '', '', '', 'This chapter describes two novel high-content Redistribution assay technologies: (1) The p53:hdm2 GRIP interaction assay, in which one high-content image feature is used for detection of primary hits, whereas a different feature is used to deselect compounds with unwanted mode of action, and (2) application of siRNAs to Redistribution assays, exemplified by knockdown of Akt isoforms in a FKHR translocation assay reporting on the PI3 kinase signaling pathway.. '), ('9164', 'P65_P50', '', 'P65', 'P50', '20573493', '10', '', '', '', '', '', '', '', '', '', 'Subsequently, translocation of the NF-?B (p50/p65) and AP-1 (c-Fos/c-Jun) subunits was down-regulated by DHA in the nucleus of HAECs. '), ('9165', 'CK2_CD5', '', 'CK2', 'CD5', '24356888', '10', '', '', '', '', '', '', '', '', '', 'In the absence of CD5-CK2 signaling, we observed decreased activity of S6K and attenuated nuclear translocation of ROR?t (ROR is retinoic acid receptor related orphan receptor).     ///    These results reveal a novel and essential function of the CD5-CK2 signaling pathway and GSK3-IFN-? axis in regulating Th-cell differentiation and provide a possible means to dampen Th17-type responses in autoimmune diseases.     ///    Genetic ablation of the CD5-CK2 signaling pathway attenuated TCR-induced AKT activation and consequently increased activity of GSK3 in Th17 cells.     ///    \"In our study, the CD5-CK2 signaling pathway enhanced TCR-induced activation of AKT and promoted the differentiation of Th17 cells by two independent mechanisms: inhibition of glycogen synthase kinase 3 (GSK3) and activation of mTOR. \"'), ('9166', 'IRF4_DUSP22', '', 'IRF4', 'DUSP22', '24805854', '10', 'anaplastic large cell lymphoma;B cell lymphoma;lymphoma;lymphoproliferative disorder;mycosis fungoides\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The clinical and pathologic characteristics of the CD30 TLPDs were similar to those of their extravascular counterparts, including extralymphatic dermal involvement in a subset, DUSP22-IRF4 translocations in half of tested ALK ALCLs, and associated mycosis fungoides in 1. '), ('9167', 'P27_HIF1A', '', 'P27', 'HIF1A', '19940121', '10', 'retinoblastoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Altogether, these findings suggest that hypoxia prevents the nuclear translocation of GSK3beta and the DNA binding capability of C/EBPbeta by blocking the G(1)/S transition through HIF-1alpha-dependent induction of p27(Kip1) and an HIF-1alpha/p27-independent mechanism.. '), ('9168', 'REL_NFKB1', '', 'REL', 'NFKB1', '8972019', '10', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'As evidenced by electro mobility shift assay (EMSA) and the use of a NF-kappa B prototypic probe, these drugs probably exert their inhibitory effects by interference with the nuclear translocation of NF-kappa B/c-Rel proteins.     ///    \"Acetylsalicylic acid and sodium salicylate inhibit LPS-induced NF-kappa B/c-Rel nuclear translocation, and synthesis of tissue factor (TF) and tumor necrosis factor alfa (TNF-alpha) in human monocytes.. \"'), ('9169', 'XBP1_IRE1', '', 'XBP1', 'IRE1', '16908519', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Overexpression of spliced XBP1 facilitates ER translocation, suggesting that downstream elements of the Ire1-XBP1 pathway are involved in PrP targeting. '), ('9170', 'P65_P50', '', 'P65', 'P50', '23159337', '10', '', '', '', '', '', '', '', '', '', 'Furthermore, molecular studies showed that effusanin C inhibited phosphorylation of p38, JNK, and ERK, degradation of I?B?, and nuclear translocation of NF-?B p50/p65 in these cells. '), ('9171', 'RET_PTC', '', 'RET', 'PTC', '18251569', '10', 'oligodendroglioma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular assays that are currently in use or on the near horizon, including translocation analyses for RET-PTC and PPARgamma-PAX8, point mutation analysis for BRAF and epidermal growth factor receptor, and genetic loss for 1p and 19q, are discussed.. '), ('9172', 'P65_P50', '', 'P65', 'P50', '16373365', '10', '', 'PCR', '', '', '', '', '', '', '', 'The main NF-kappaB protein complexes translocated to the nucleus were p65/p50 and p50/p50. '), ('9173', 'ETO_AML1', '', 'ETO', 'AML1', '23193409', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'We found fusion transcripts in 19 patients, namely, AML1/ETO (n = 5. '), ('9174', 'CCNB1_CDC2', '', 'CCNB1', 'CDC2', '19136513', '10', 'hepatocellular carcinoma\r\r', 'PCR', 'Kinase', '', '', '', '', '', '', 'Activation of FOXM1 and its targets (Aurora Kinose A, Cdc2, cyclin B1, Nek2) occurred earlier and was most pronounced in liver lesions from F344 than BN rats, leading to the highest number of Cdc2-cyclin B1 complexes (implying the highest G(2)-M transition) in F344 rats. '), ('9175', 'STMN1_STAT3', '', 'STMN1', 'STAT3', '19251695', '10', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'STAT3-stathmin interactions control microtubule dynamics in migrating T-cells.. '), ('9176', 'DFF40_CAD', '', 'DFF40', 'CAD', '22253444', '10', '', '', 'Kinase', '', '', '', '', '', '', 'After staurosporine treatment, the preferential processing of ICAD in the cytosolic fraction allows the translocation of DFF40/CAD from this fraction to a chromatin-enriched one.     ///    \"Despite this differential subcellular distribution of DFF40/CAD, we find no differences in the subcellular localization of both pro-caspase-3 and ICAD between the analyzed cell lines. \"    ///    \"Altogether, the cytosolic levels of DFF40/CAD are determinants in achieving a complete apoptotic phenotype, including oligonucleosomal DNA degradation.. \"    ///    Biochemical approaches show that both SH-SY5Y and SK-N-AS resting cells express comparable levels of DFF40/CAD.     ///    \"Apoptotic DNA degradation into oligonucleosomal fragments, but not apoptotic nuclear morphology, relies on a cytosolic pool of DFF40/CAD endonuclease.. \"    ///    \"Therefore, the low levels of cytosolic DFF40/CAD detected in SK-N-AS cells determine the absence of DNA laddering after staurosporine treatment. \"    ///    \"The endogenous inhibitor of DFF40/CAD, ICAD, is correctly processed, and dff40/cad cDNA sequence does not reveal mutations altering its amino acid composition. \"    ///    \"In these cells DFF40/CAD cytosolic levels can be restored by the overexpression of their own endonuclease, which is sufficient to make them proficient at degrading their chromatin into oligonucleosome-size fragments after staurosporine treatment. \"    ///    \" Apoptotic cell death is characterized by nuclear fragmentation and oligonucleosomal DNA degradation, mediated by the caspase-dependent specific activation of DFF40/CAD endonuclease. \"'), ('9177', 'P73_P72', '', 'P73', 'P72', '7641298', '10', '', '', '', '', '', '', '', '', '', 'These results strongly suggest that hsp40 and hsp70 (p73/p72) form a complex in the cytoplasm at normal temperature, translocate together and colocalize in the nuclei and nucleoli upon heat-shock, and that they may function cooperatively to repair (refold) denatured proteins under stress conditions.. '), ('9178', 'MRP1_ABCC1', '', 'MRP1', 'ABCC1', '16565074', '10', '', '', '', '', '', '', '', '', '', 'Role of GSH in estrone sulfate binding and translocation by the multidrug resistance protein 1 (MRP1/ABCC1)..     ///     Multidrug resistance protein 1 (MRP1/ABCC1) is an ATP-dependent efflux pump that can confer resistance to multiple anticancer drugs and transport conjugated organic anions. '), ('9179', 'PGS_PGD', '', 'PGS', 'PGD', '25701143', '10', '', '', '', '', '', '', '', '', '', 'Six PGD/PGS cycles were retrospective studied, including five chromosomal translocation PGD cycles and one recurrent abortion PGS cycle.     ///    \"After PGD/PGS, only one couple had no euploid embryos to transfer. \"'), ('9180', 'RPN2_RPN1', '', 'RPN2', 'RPN1', '18511945', '10', '', '', '', '', '', '', '', '', '', 'Both Rpn1-Rpn2 and the ATPases are required for substrate translocation and gating of the proteolytic channel.     ///    \"The 19S ATPases encircle the Rpn1-Rpn2 stack, covering the remainder of the 20S surface. \"'), ('9181', 'RET_PTC3', '', 'RET', 'PTC3', '16832789', '10', 'thyroid carcinoma;thyloid cancer;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET translocation in carcinoma type RET/PTC1 in elderly and RET/PTC3 in children, and expression Ax1 and Gas6 in children were reviewed as well. '), ('9182', 'TRIF_TRAM', '', 'TRIF', 'TRAM', '25825441', '10', '', '', '', '', '', '', '', '', '', 'Protein tyrosine phosphatase nonreceptor type 4 (PTPN4), a protein tyrosine phosphatase, inhibits tyrosine phosphorylation and subsequent cytoplasm translocation of TRAM, resulting in the disturbance of TRAM-TRIF interaction. '), ('9183', 'PRKY_PRKX', '', 'PRKY', 'PRKX', '9889101', '10', 'Leber hereditary optic neuropathy', '', 'Kinase', '', '', '', '', '', '', 'Here, we show that one class of infertile males, PRKX/PRKY translocation XX males, arises predominantly on a particular Y haplotypic background. '), ('9184', 'P65_P50', '', 'P65', 'P50', '15709200', '10', 'adenocarcinoma;breast carcinoma\r\r', '', '', '', '', '', '', '', '', 'DHMEQ did not inhibit the degradation of IkappaB but inhibited the nuclear translocation of NF-kappaB by both p65/p50 and RelB/p52 pathways. '), ('9185', 'BCL2_IGH', '', 'BCL2', 'IGH', '21429362', '10', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '[B-cell lymphoma with concurrent myc/IgH and bcl-2/IgH translocations: report of a case].. '), ('9186', 'TCR_CD3', '', 'TCR', 'CD3', '11279207', '10', '', '', '', '', '', '', '', '', '', 'Interestingly, HPK1 also inducibly associated with linker for activation of T cells (LAT) through its proline-rich motif and translocated into glycolipid-enriched microdomains (also called lipid rafts) following TCR/CD3 stimulation, suggesting a critical role for LAT in the regulation of HPK1.     ///    \"Upon TCR/CD3 stimulation, HPK1 formed inducible complexes with the adapters Nck and Crk with different kinetics, whereas it constitutively interacted with the adapters Grb2 and CrkL in Jurkat T cells. \"    ///    HPK1 was activated and tyrosine-phosphorylated with similar kinetics following TCR/CD3 or pervanadate stimulation. '), ('9187', 'VEGFR2_NRP', '', 'VEGFR2', 'NRP', '14764537', '10', '', '', '', '', '', '', '', '', '', 'Together, these data show that maximal P-selectin translocation and subsequent neutrophil adhesion was mediated by VEGF-A(165) on the activation of VEGFR-2/NRP-1 complex and required PAF synthesis.. '), ('9188', 'quinone oxidoreductase_NADPH', '', 'quinone oxidoreductase', 'NADPH', '26679389', '10', 'relapsing remitting multiple sclerosis', '', '', '', '', '', '', '', '', 'Our results show that monomethyl fumarate induced nuclear translocation of nuclear factor (erythroid-derived 2)-like 2 and concomitant production of the antioxidant enzymes heme oxygenase-1 and NADPH:quinone oxidoreductase-1 in brain endothelial cells. '), ('9189', 'BCR_ABL1', '', 'BCR', 'ABL1', '21299849', '10', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 translocation occurs in chronic myeloid leukemia (CML) and in 25% of cases with acute lymphoblastic leukemia (ALL).     ///    None of these cell lines carries mutations in the kinase domain of BCR-ABL1 or other molecular aberrations previously indicted in the context of imatinib-resistance.     ///    We screened a panel of BCR-ABL1 positive ALL and CML cell lines to find models for imatinib-resistance.     ///    \"Five of 19 BCR-ABL1 positive cell lines were resistant to imatinib-induced apoptosis (KCL-22, MHH-TALL1, NALM-1, SD-1, SUP-B15). \"    ///    \"None of the resistant cell lines carried mutations in the kinase domain of BCR-ABL1 and all showed resistance to second generation TKI, nilotinib or dasatinib. \"    ///    \"STAT5, ERK1/2 and the ribosomal S6 protein (RPS6) are BCR-ABL1 downstream effectors, and all three proteins are dephosphorylated by imatinib in sensitive cell lines. \"    ///    \"PI3K pathway inhibitors effected dephosphorylation of RPS6 in imatinib-resistant cell lines suggesting that an oncogene other than BCR-ABL1 might be responsible for activation of the PI3K/AKT1/mTOR pathway, which would explain the TKI resistance of these cells. \"'), ('9190', 'EWSR1_CREB1', '', 'EWSR1', 'CREB1', '23320232', '10', 'melanoma;fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', '', 'So far three translocations have been reported to arise in angiomatoid fibrous histiocytoma: FUS-ATF1, EWSR1-CREB1, or EWSR1-ATF1.     ///    \"Revision of the pathology revealed an angiomatoid fibrous histiocytoma, which was later confirmed by a EWSR1-CREB1 translocation with molecular diagnostics. \"'), ('9191', 'TEL_JAK2', '', 'TEL', 'JAK2', '12024032', '10', 'non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Fusion tyrosine kinases (FTKs) such as BCR/ABL, TEL/ABL, TEL/JAK2, TEL/PDGF beta R, TEL/TRKC(L), and NPM/ALK arise from reciprocal chromosomal translocations and cause acute and chronic leukemias and non-Hodgkin\'s lymphoma. '), ('9192', 'IGH_CCND1', '', 'IGH', 'CCND1', '15973455', '10', 'composite lymphoma;non Hodgkin Lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In the HL/FL and HL/MCL combinations, BCL2/IGH and CCND1/IGH translocations, respectively, were detected in both the HL and NHL.     ///    \"In conclusion, we present the first examples of molecularly verified IgH-associated translocations in HL, which also show that BCL2/IGH or CCND1/IGH translocations can represent early steps in the pathogenesis of composite HL/FL or HL/MCL. \"'), ('9193', 'TR3_NUR77', '', 'TR3', 'NUR77', '17543302', '10', '', '', '', '', '', '', '', '', '', 'Involvement of TR3/Nur77 translocation to the endoplasmic reticulum in ER stress-induced apoptosis.. '), ('9194', 'HSP65_PRA', '', 'HSP65', 'PRA', '18366704', '10', '', 'PCR', '', '', '', '', '', '', '', 'Among the 333 isolates representing the most common pathogenic species, PRA-hsp65 provided an incorrect result for only 1.2%.     ///    Phenotypic evaluation and PRA-hsp65 were concordant for 321 (74%) isolates.     ///    \"In the molecular method referred to as PRA-hsp65, a fragment of the hsp65 gene is amplified by PCR and then analyzed by restriction digest. \"    ///    The aim of this study was to determine whether species identification of NTM using PRA-hsp65 is sufficiently reliable to serve as the routine methodology in a reference laboratory.     ///    Species identification was performed for all isolates using conventional phenotypic methods and PRA-hsp65.     ///    PRA-hsp65 is a rapid and highly reliable method and deserves consideration by any clinical microbiology laboratory charged with performing species identification of NTM..     ///    PRA-hsp65 identified 30 isolates with hsp65 alleles representing 13 previously unreported PRA-hsp65 patterns.     ///    \"Overall, species identification by PRA-hsp65 was significantly more accurate than by phenotype methods (392 (90.3%) vs. \"'), ('9195', 'RET_PTC3', '', 'RET', 'PTC3', '26695504', '10', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Mutations for KRAS, HRAS and NRAS and for BRAF and translocations of PAX8/PPAR?, RET/PTC1 and RET/PTC3 were investigated. '), ('9196', 'RET_PTC', '', 'RET', 'PTC', '15812549', '10', 'thyroid cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'On the basis of their pathological features and of the fact that a large proportion of them demonstrate RET-PTC translocations, these cancers are considered as similar to classical sporadic papillary carcinomas, although molecular alterations differ between both tumours. '), ('9197', 'P65_P50', '', 'P65', 'P50', '19723091', '10', '', '', '', '', '', '', '', '', '', '(1) Here we show that melatonin induces a strong canonical activation of NF-kappaB, inducing IkappaBalpha degradation and the consequential nuclear translocation of p50/p65 subunits. '), ('9198', 'EML4_ALK', '', 'EML4', 'ALK', '24212966', '10', 'small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'These tests should not be routinely used in selecting treatment at this time, whereas EML4/ALK translocations predict responses to specific targeted agents, the optimal assessment of this molecular abnormality has yet to be established. '), ('9199', 'COX2_COX1', '', 'COX2', 'COX1', '23535188', '10', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'In contrast to NSAIDs, STW 5 induced COX-1/COX-2, caspase-3 and Bax mRNA expressions in HT-29 and blocked LPS mediated translocation of the NF-?B p65 from the cytoplasm into the nucleus in PMA-differentiated THP-1 macrophages. '), ('9200', 'IRAP_AS160', '', 'IRAP', 'AS160', '16880201', '10', '', '', '', '', '', '', '', '', '', 'Introduction of a constitutive 14-3-3 binding site into AS160(4P) restored 14-3-3 binding without disrupting AS160-IRAP (insulin-responsive amino peptidase) interaction and reversed the inhibitory effect of AS160(4P) on GLUT4 translocation. '), ('9201', 'MALT1_API2', '', 'MALT1', 'API2', '19631287', '10', 'non Hodgkin Lymphoma', '', '', '', '', '', '', '', '', 'The remission rate was higher among patients without the API2-MALT1 translocation than in those with this translocation (78% vs 22.2%. '), ('9202', 'TRADD_TNFR1', '', 'TRADD', 'TNFR1', '25912078', '10', '', '', '', '', '', '', '', '', '', 'Our results also suggested that the hTRADD-hMYH association was involved in the nuclear translocation of NF?B and formation of the TNFR1-TRADD complex. '), ('9203', 'TTI1_TEL2', '', 'TTI1', 'TEL2', '23263282', '10', 'multiple myeloma\r\r', '', '', '', '', '', '', '', '', 'This process is primed by CK2, which translocates to the cytoplasm to mediate mTORC1-specific phosphorylation of Tel2/Tti1, subsequent to growth factor deprivation.     ///    SCFFbxo9 and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma.. '), ('9204', 'CYTC_APAF1', '', 'CYTC', 'APAF1', '17263886', '10', 'melanoma;colon cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'E2F-1-induced cancer cell apoptosis was accompanied by Bax translocation from the cytosol to mitochondria and the induction of caspase-9 activity, suggesting that E2F-1-induced apoptosis is mediated by PUMA through the cytochrome C/Apaf-1-dependent pathway. '), ('9205', 'IGFR1_IGF2', '', 'IGFR1', 'IGF2', '23863936', '10', '', '', '', '', '', '', '', '', '', 'Maternal-specific H19-DMR deletion results in activation of the Igf2-Igfr1 pathway, as shown by the translocation of phosphorylated FoxO3 (an inactive form) from nucleus to cytoplasm and the release of FoxO3-mediated cell cycle arrest, thus leading to increased activation, proliferation and eventual exhaustion of haematopoietic stem cells. '), ('9206', 'BCR_ABL1', '', 'BCR', 'ABL1', '11122114', '10', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' We identified a novel BCR-ABL transcript in a chronic myelogenous leukaemia (CML) patient who relapsed after bone marrow transplantation (BMT), containing a fusion between part of BCR exon 3, 44 nucleotides derived from ABL intron 1b and ABL exon 2. '), ('9207', 'ATR_ATM', '', 'ATR', 'ATM', '19296337', '10', 'glioma\r\r', 'PCR;RT-PCR', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Radiation-induced accumulation was considerably less in Sf9 even as an analogous ATM/ATR-dependent nuclear translocation was observed following gamma-irradiation and etoposide.     ///    \"While its nuclear translocation and ATM/ATR dependence were similar to hp53, the cytoplasmic localization and subdued accumulation following gamma-irradiation indicate functional differences from human cells.. \"    ///    \"Cells were pre-treated with caffeine for inhibiting ATM/ATR (ataxia-telangiectasia mutated protein/ATM and Rad-3-related protein) activation, wherever required. \"'), ('9208', 'KEAP1_HSP90', '', 'KEAP1', 'HSP90', '25645596', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The induction of the HO-1 by solanesol is majorly achieved via enhancing the nuclear translocation and transactivity of Nrf2 through enhancement of Hsp90-Keap1 interaction, while solanesol-elevated Hsp70 is related with promoting the nuclear translocation of HSF1 through the involvement of chaperones interaction. '), ('9209', 'PITPNM3_CCL18', '', 'PITPNM3', 'CCL18', '26449829', '10', 'hepatocellular carcinoma', '', '', '', '', '', '', '', '', '(3) Cell migration, invasion, and EMT induced by CCL18 accompanied with the phosphorylation of IKK and IKB? as well as p65 nuclear translocation in PITPNM3((+)) HCC cells, but not in the cells that PITPNM3 is silenced with siRNA, implying that the activation of NF-?B signaling is involved in the action of CCL18/PITPNM3.     ///    \"CCL18/PITPNM3 enhances migration, invasion, and EMT through the NF-?B signaling pathway in hepatocellular carcinoma.. \"'), ('9210', 'HLF_E2A', '', 'HLF', 'E2A', '9571207', '10', '', '', '', 'Oncogene', '', '', '', '', '', 'Regulation of the DBP promoter by PAR proteins and in leukemic cells bearing an E2A/HLF translocation..     ///    \"The DBP promoter is active in the UOC-B1 cell line, which bears a 17:19 translocation resulting in the creation of an E2A:HLF fusion protein. \"'), ('9211', 'STAT3_JAK2', '', 'STAT3', 'JAK2', '26919063', '10', '', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Furthermore, inhibition of Jak2-Stat3 pathway activation and Stat3 nuclear translocation also was observed.     ///    \"In conclusion, SchA can exert anti-inflammatory and neuroprotective effects by alleviating microglia-mediated neuroinflammation injury through inhibiting the TRAF6-IKK?-NF-?B and Jak2-Stat3 signaling pathways. \"    ///    Schizandrin A Inhibits Microglia-Mediated Neuroninflammation through Inhibiting TRAF6-NF-?B and Jak2-Stat3 Signaling Pathways.. '), ('9212', 'STAT2_STAT1', '', 'STAT2', 'STAT1', '26061044', '10', 'colon cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'Overexpression of HPP1 was associated with significant increases in STAT1:STAT1 (p=0.007) and STAT1:STAT2 (p=0.036) dimer formation, as well as subsequent nuclear translocation. '), ('9213', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '26805187', '10', 'mucoepidermoid carcinoma;pneumonia', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', '19) translocation with the associated CRTC1-MAML2 fusion oncogene is often recognized in cases of both salivary and pulmonary MEC. '), ('9214', 'JUN_FOS', '', 'JUN', 'FOS', '20573493', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Subsequently, translocation of the NF-?B (p50/p65) and AP-1 (c-Fos/c-Jun) subunits was down-regulated by DHA in the nucleus of HAECs. '), ('9215', 'JUN_JNK', '', 'JUN', 'JNK', '18757369', '10', 'osteosarcoma;osteosarcoma;sarcoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The statin decreased JNK phosphorylation and c-Jun nuclear translocation, suggesting that HMG-CoA reductase inhibition targets the JNK-c-Jun signaling pathway. '), ('9216', 'P97_AIRAPL', '', 'P97', 'AIRAPL', '26337389', '10', '', '', '', '', '', '', '', '', '', 'Here we demonstrate that on specific translocation inhibition, a p97-AIRAPL complex directly binds and regulates the efficient processing of polyubiquitinated pQC substrates by the UPS.     ///    Proteasomal degradation of preemptive quality control (pQC) substrates is mediated by an AIRAPL-p97 complex.. '), ('9217', 'P10_NUTF2', '', 'P10', 'NUTF2', '9192717', '10', '', '', '', '', '', '', '', '', '', 'The second step, translocation, requires at least two soluble factors, a small GTPase Ran and its interacting protein p10/nuclear transport factor 2 (NTF2), along with nuclear pore complex components. '), ('9218', 'TAT_CTA', '', 'TAT', 'CTA', '20488171', '10', 'chronic periodontitis', 'PCR', '', '', '', '', '', '', '', 'Although, nonsmokers carrying the TTA/CAT (OR=2.35, 95% CI=1.03-5.36) and TAT/CTA (OR=6.05, 95% CI=1.32-27.7) haplotypes were genetically susceptible to chronic periodontitis. '), ('9219', 'vimentin_desmin', '', 'vimentin', 'desmin', '1874790', '10', '', '', '', '', '', '', '', '', '', '82:577-584), analogous to the translocation of intact desmin/vimentin IFs in control muscle.     ///    Desmin/vimentin intermediate filaments are dispensable for many aspects of myogenesis..     ///    \"When transiently expressed in primary fibroblasts, or in differentiating postmitotic myoblasts and multinucleated myotubes, the truncated protein induces the complete dismantling of the preexisting vimentin or desmin/vimentin IF networks, respectively. \"'), ('9220', 'SET_SEI1', '', 'SET', 'SEI1', '20570897', '10', 'esophageal cancer', '', '', '', '', '', '', '', '', 'Sister chromatid exchange experiment found that the translocation of small amount of NM23H1 into the nucleus induced by the overexpressions of SEI1/SET could increase the frequency of sister chromatid exchange. '), ('9221', 'TAP2_TAP1', '', 'TAP2', 'TAP1', '8189046', '10', '', '', '', '', '', '', '', '', '', 'Several types of proteins are implicated in the regulation of class Ia MHC assembly, including: 1) TAP1/TAP2 transporters, which translocate peptides derived from naturally processed endogenous proteins from the cytosol into the ER and which are necessary for expression of \"peptide-filled\" class Ia Ags, and 2) calnexin, a chaperone protein, which was proposed to retain unassembled class Ia chains in the ER.     ///    \"In our study, we examined if the expression of class Ib Qa-2 molecules depends on the TAP1/TAP2 peptide delivery system. \"'), ('9222', 'NPM_ALK', '', 'NPM', 'ALK', '12024032', '10', 'non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Fusion tyrosine kinases (FTKs) such as BCR/ABL, TEL/ABL, TEL/JAK2, TEL/PDGF beta R, TEL/TRKC(L), and NPM/ALK arise from reciprocal chromosomal translocations and cause acute and chronic leukemias and non-Hodgkin\'s lymphoma. '), ('9223', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '21464025', '10', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', ' It is established that numerous somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. '), ('9224', 'P67_P47', '', 'P67', 'P47', '20139414', '10', '', '', '', '', '', '', '', '', '', 'Previous studies of Nox2 showed that certain basic residues in the B-loop are important for activity and translocation of p47(phox)/p67(phox), suggesting this region participates in subunit assembly.     ///    \"However, conservation of this region in Nox4, which does not require p47(phox)/p67(phox), suggested an additional role for the B-loop in Nox function. \"'), ('9225', 'BCL2_BAX', '', 'BCL2', 'BAX', '21698300', '10', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Compared to early cultures, late passage HUVECs also exhibited nuclear translocation of NF-?B (p65) and reciprocal shifts in BAX and BCL2 protein content resulting in almost 2-fold increase in BAX/BCL2 ratio and 3-fold increase in apoptotic response to TNF? exposure (p<0.04). '), ('9226', 'CYP1A1_AHR', '', 'CYP1A1', 'AHR', '23210792', '10', 'skin cancer', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'Verbascoside invariably inhibited molecular pathways in HEK leading to inflammatory cytokine expression (NFkappaB and EGFR/ERK phosphorylation), and cell proliferation (EGFR nuclear translocation), and displayed a stimulus-specific effect on the metabolic axis aryl hydrocarbon receptor (AhR)-CYP1A1/CYP1B1. '), ('9227', 'YAP1_ESR1', '', 'YAP1', 'ESR1', '24055055', '10', 'breast cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'Estrogen-receptor-positive PDXs were associated with ESR1 ligand-binding-domain mutations, gene amplification, or an ESR1/YAP1 translocation. '), ('9228', 'GRIA4_GRIA1', '', 'GRIA4', 'GRIA1', '11677629', '10', '', 'PCR', '', '', '', '', '', '', '', 'Mammalian and avian AMPARs are assembled from the products of four genes (GRIA1-GRIA4) conserved in their translated sequences and gene organizations. '), ('9229', 'TEL_AML1', '', 'TEL', 'AML1', '17049456', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'This multi-stage model is supported by the observation that chromosomal translocations/fusion genes (e.g., TEL-AML1) involved in producing ALL are detected at birth (prenatal event), and a postnatal event (e.g., TEL deletion) is required for disease manifestation.     ///    \"Furthermore, we discuss use of an initiated animal model for ALL, namely transgenic mice with TEL-AML1 expression, for exploring mechanisms by which different classes of environmental exposures could be involved in inducing the postnatal step in ALL formation.. \"'), ('9230', 'NUT_BRD4', '', 'NUT', 'BRD4', '26244120', '10', '', '', 'Kinase', '', '', '', '', 'KB', '', 'It is characterized by its genotypic feature of BRD4-NUT translocation, which is in contrast with other malignant processes that are usually categorized based on their histologic/phenotypic features. '), ('9231', 'BCR_ABL1', '', 'BCR', 'ABL1', '23550022', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukemia (CML) is a cancer of blood cells driven by the BCR-ABL1 oncogenic protein tyrosine kinase, which is the product of a reciprocal chromosomal translocation known as the Philadelphia chromosome.     ///    \"Discovery of tyrosine kinase inhibitors targeting the BCR-ABL1 kinase revolutionized CML therapy, but these drugs are unable to eradicate the disease due to the presence of a drug-insensitive stem cell population that sustains continued growth of the malignant cells. \"'), ('9232', 'REL_COMMD1', '', 'REL', 'COMMD1', '26599546', '10', 'B cell lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', '2p15 (REL/COMMD1), 9p24 (JAK2, CD274), 16p13 (SOCS1, LITAF, CIITA). '), ('9233', 'SMC_MUC4', '', 'SMC', 'MUC4', '12748185', '10', '', '', '', '', '', '', '', '', '', 'In contrast, Na+/K+-ATPase maintains its basolateral localization in Muc4/SMC-transfected cells, indicating that the translocation of ErbB2 is not the result of depolarization of the cells.     ///    Expression of apical Muc4/SMC in these cells by transient transfection results in the localization of the ErbB2 at the apical surface.     ///    \"Because Muc4/SMC is found at the apical surfaces of polarized epithelial cells and ErbB2 is often basolateral, the question arises as to whether these components become associated in polarized cells. \"    ///    \"A potential physiological role for the apical localization of ErbB2 is indicated by the fact that ErbB2 phosphorylated at tyrosine 1248 is found predominantly in Muc4/SMC-transfected cells, but not in untransfected cells, and is co-localized with the apical Muc4/SMC. \"    ///    \"The ability of Muc4/SMC to alter the localization of ErbB2, particularly a phosphorylated form of it, in epithelial cells, suggests that it has an important role in regulating ErbB2 signaling.. \"    ///    Two-color confocal microscopy indicated that ErbB2 is colocalized with Muc4/SMC in the transfected cells but not in untransfected cells in the same culture. '), ('9234', 'INSR_IGF1R', '', 'INSR', 'IGF1R', '22239439', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Three recent insights into IGF1R signaling, namely hybrid receptor formation with insulin receptor (INSR), insulin receptor substrate 1 nuclear translocation, and evidence for IGF1R/INSR as dependence receptors. '), ('9235', 'MAPK1_ERK', '', 'MAPK1', 'ERK', '18266967', '10', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'VEGF-induced activation of p42 MAPK/ERK also led to the nuclear translocation of MAPK/ERK1/2.     ///    \"VEGF induced a sustained activation of p42 MAPK/ERK, but not that of p44 MAPK/ERK during the course of MAPCs differentiation in a time-dependent manner up to 14 days. \"'), ('9236', 'RET_PTC1', '', 'RET', 'PTC1', '17960500', '10', 'paraganglioma;thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'This tumor is known to share morphological and architectural similarities with paraganglioma and medullary thyroid carcinoma, as well as the nuclear features and RET/PTC1 translocations of papillary thyroid carcinoma. '), ('9237', 'HHR23B_XPC', '', 'HHR23B', 'XPC', '10214908', '10', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'Initial recognition of the distortion is the most likely function for XPC-hHR23B and perhaps XPA and RPA, whereas TFIIH is well-suited to locate the damaged DNA strand by locating altered DNA chemistry that blocks translocation of the XPB and XPD components..     ///    \"The strongest binding factor appears to be XPC-hHR23B but preferential binding to damage is also a property of XPA, RPA, and components of TFIIH. \"    ///    \" For the bulk of mammalian DNA, the core protein factors needed for damage recognition and incision during nucleotide excision repair (NER) are the XPA protein, the heterotrimeric RPA protein, the 6 to 9-subunit TFIIH, the XPC-hHR23B complex, the XPG nuclease, and the ERCC1-XPF nuclease. \"'), ('9238', 'P12_LOX', '', 'P12', 'LOX', '15142951', '10', '', '', '', '', '', '', '', '', '', 'Collagen or CRP-stimulated 12-H(P)ETE generation was inhibited by staurosporine, PP2, wortmannin, BAPTA/AM, EGTA, and L-655238, implicating src-tyrosine kinases, PI3-kinase, Ca2+ mobilization, and p12-LOX translocation.     ///    \"Finally, activation of the immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing platelet endothelial cell adhesion molecule (PECAM-1) inhibited p12-LOX product generation. \"    ///    Human platelets that contain a 12-LOX isoform (p12-LOX) were used to define pathways that activate H(P)ETE synthesis in the vasculature. '), ('9239', 'CD18_CD11B', '', 'CD18', 'CD11B', '18055569', '10', '', '', '', '', '', '', '', '', '', 'Taken together, these observations suggest that CD11b activation causes translocation of CD11b/CD18 into Lyn-coupled, LacCer-enriched lipid rafts, allowing neutrophils to phagocytose NOZs via CD11b/CD18..     ///    CD11b/CD18 activation experiments indicated phosphorylation of LacCer-associated Lyn by activation of CD11b.     ///    \"Here, we report that lactosylceramide (LacCer)-enriched lipid rafts are required for CD11b/CD18-mediated phagocytosis of nonopsonized zymosans (NOZs) by human neutrophils. \"    ///    Immunoprecipitation experiments suggested that CD11b/CD18 was mobilized into the LacCer-enriched lipid rafts during phagocytosis of NOZs.     ///     The integrin CD11b/CD18 plays a central role in neutrophil phagocytosis.     ///    \"Although CD11b/CD18 binds a wide range of ligands, including C3bi and beta-glucan, and transmits outside-in signaling, the mechanism of this signaling responsible for phagocytosis remains obscure. \"    ///    Lyn-coupled LacCer-enriched lipid rafts are required for CD11b/CD18-mediated neutrophil phagocytosis of nonopsonized microorganisms.. '), ('9240', 'CCNB1_CDK1', '', 'CCNB1', 'CDK1', '17472438', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Importantly, we discovered that cytoplasmic cyclin B1-Cdk1 activity can be maintained even when cyclin B1 translocates to the nucleus in prophase.     ///    \"By quantifying both dephosphorylation of Cdk1 and phosphorylation of the Cdk1 target anaphase-promoting complex/cyclosome 3, we disclose how cyclin B1-Cdk1 continues to be activated after centrosome separation. \"    ///    \"These experimental data are fitted into a model describing cyclin B1-Cdk1 activation in human cells, revealing a striking resemblance to a bistable circuit. \"    ///    \"In line with the observed kinetics, cyclin B1-Cdk1 levels required to enter mitosis are lower than the amount of cyclin B1-Cdk1 needed for mitotic progression. \"    ///    \" Activation of cyclin B1-cyclin-dependent kinase 1 (Cdk1), triggered by a positive feedback loop at the end of G2, is the key event that initiates mitotic entry. \"    ///    We propose that gradually increasing cyclin B1-Cdk1 activity after centrosome separation is critical to coordinate mitotic progression..     ///    We use a novel approach to determine the temporal development of cyclin B1-Cdk1 activity in single cells.     ///    Cyclin B1-Cdk1 activation continues after centrosome separation to control mitotic progression.. '), ('9241', 'STAT3_JAK2', '', 'STAT3', 'JAK2', '22050790', '10', 'colorectal cancer\r\r', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'In addition, our results demonstrated that the translocation of cytochrome c (Cyt c), caspase activation and cleavage of poly (ADP-ribose) polymerase (PARP) were present in apoptotic CRC cells after down-regulation of JAK2/STAT3 signalling.     ///    \"Our data showed that inhibition of JAK2/STAT3 signalling induced CRC cellular apoptosis via modulating the Bcl-2 gene family, promoting the loss of mitochondrial transmembrane potential (??m) and the increase of reactive oxygen species. \"    ///    \"Therefore, JAK2/STAT3 signalling may be a potential target for therapy of CRC.. \"    ///    \" Abnormalities in the JAK2/STAT3 pathway are involved in the pathogenesis of colorectal cancer (CRC), including apoptosis. \"    ///    Inhibition of JAK2/STAT3 signalling induces colorectal cancer cell apoptosis via mitochondrial pathway..     ///    We found that JAK2/STAT3 target genes were decreased.     ///    \"Our findings illustrated the biological significance of JAK2/STAT3 signalling in CRC apoptosis, and provided novel evidence that inhibition of JAK2/STAT3 induced apoptosis via the mitochondrial apoptotic pathway. \"    ///    \"However, the exact mechanism by which dysregulated JAK2/STAT3 signalling contributes to the apoptosis has not been clarified. \"    ///    \"Moreover, inhibition of JAK2/STAT3 signalling suppressed CRC xenograft tumour growth. \"'), ('9242', 'HMGB1_BECN1', '', 'HMGB1', 'BECN1', '24178442', '10', 'parkinson disease', '', '', '', '', '', 'Transcription_Factor', '', '', 'Furthermore, we showed that SNCA binds to both cytosolic and nuclear high mobility group box 1 (HMGB1), impairs the cytosolic translocation of HMGB1, blocks HMGB1-BECN1 binding, and strengthens BECN1-BCL2 binding. '), ('9243', 'EML4_ALK', '', 'EML4', 'ALK', '21777762', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'So, the EML4 - ALK translocation is accessible to a treatment by crizotinib, with response rate around 60-70%.. '), ('9244', 'DUX4_CIC', '', 'DUX4', 'CIC', '26135561', '10', 'ewing sarcoma;granulosa cell tumors;melanoma;rhabdoid tumor', '', '', '', '', '', '', '', '', 'We evaluated BRG1 and INI1 expression in 12 SCCOHTs and in a series of 122 tumors that could mimic SCCOHT morphologically: 9 juvenile granulosa cell tumors, 47 adult granulosa cell tumors, 33 high-grade ovarian serous carcinomas, 9 desmoplastic round cell tumors, 13 Ewing sarcomas (5 from the pelvis and 8 from soft tissues), 1 round cell sarcoma associated with CIC-DUX4 translocation from soft tissue (thigh), 1 case of high-grade endometrial stromal sarcoma of the ovary, and 9 melanomas. '), ('9245', 'MAPK14_SAPK2', '', 'MAPK14', 'SAPK2', '11574405', '10', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Glucose- and insulin-stimulated translocation of PDX-1 to the nucleoplasm was inhibited by wortmannin and SB 203580, indicating that a pathway involving PI 3-kinase and SAPK2/p38 was involved.     ///    Glucose and insulin regulate PDX-1 by way of a signaling pathway involving phosphatidylinositol 3-kinase (PI 3-kinase) and SAPK2/p38.     ///    \"These results demonstrated that PDX-1 shuttles between the nuclear periphery and nucleoplasm in response to changes in glucose and insulin concentrations and that these events are dependent on PI 3-kinase, SAPK2/p38, and a nuclear phosphatase(s).. \"'), ('9246', 'TEL_AML1', '', 'TEL', 'AML1', '15024969', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Adolescents with acute lymphoblastic leukemia (ALL) have a higher incidence of T-cell immunophenotype, a higher incidence of Philadelphia chromosome positive ALL, a lower incidence of high hyperdiploidy and TEL-AML1 translocation, and a lower incidence of extramedullary bulk disease compared to younger patients. '), ('9247', 'P65_NFKB1', '', 'P65', 'NFKB1', '20238486', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Schisantherin A also inhibited p65-NF-kappaB translocation into the nucleus by I kappaB alpha degradation. '), ('9248', 'P65_P50', '', 'P65', 'P50', '11147679', '10', '', '', '', '', '', '', '', '', '', 'Our studies indicate that SP-induced cellular Ca+2 signals led to the activation of the NF-kappaB pathway, resulting in nuclear translocation of p65/p50 heterodimers that bind to high-affinity tandem kappaB sites on the VCAM-1 promoter, whereas SP activation induced NF-AT activation and ICAM-1 DNA binding. '), ('9249', 'BCR_ABL1', '', 'BCR', 'ABL1', '26980048', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'AID protein is expressed in a large proportion of Ph+ ALL cases at levels detectable by IHC in clinical samples and might be useful to rapidly identify cases likely to have a BCR/ABL1 fusion. '), ('9250', 'RET_PTC', '', 'RET', 'PTC', '21464025', '10', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' It is established that numerous somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer. '), ('9251', 'P65_NFKB1', '', 'P65', 'NFKB1', '17927689', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Furthermore, curcumin could also prevent degradation of I kappaB alpha and inhibit nuclear translocation of the NF-kappaB/p65 subunit, as well as expression of Notch 1, induced by tumour necrosis factor-alpha. '), ('9252', 'P65_P50', '', 'P65', 'P50', '26620692', '10', '', '', '', '', '', '', '', '', '', 'This suppression was mediated by disruption of phosphorylation and degradation of I?B?, an inhibitor of NF-?B, in the cytoplasm, and blocking of nuclear translocation of the NF-?B p50-p65 heterodimer. '), ('9253', 'SQSTM1_P62', '', 'SQSTM1', 'P62', '19797318', '10', '', '', 'Kinase', '', '', '', '', '', '', ' Ubiquitylation of caspase-8 by the Cullin3 E3 ligase allows its translocation to cytosolic aggregates in the cell by p62/sequestosome-1, increasing caspase-8 activation and thus leading to TRAIL-induced cell death.. '), ('9254', 'EML4_ALK', '', 'EML4', 'ALK', '26654422', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In up to 5% of non-small cell lung cancer (NSCLC) patients, the EML4-ALK translocation drives tumor progression. '), ('9255', 'NCOA2_ETV3', '', 'NCOA2', 'ETV3', '26438513', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'ETV3-NCOA2 in indeterminate cell histiocytosis: clonal translocation supports sui generis.. '), ('9256', 'CD8_CD4', '', 'CD8', 'CD4', '21212363', '10', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Rapamycin, an mTOR-specific inhibitor, alters nutrient sensing and blocks T-cell differentiation from CD4(-)CD8(-) to CD4(+)CD8(+), the stage where the Tcr?/?-c-myc translocation occurs. '), ('9257', 'CRTC2_CREB', '', 'CRTC2', 'CREB', '24823468', '10', 'endometrioma', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'and CRTC2 translocation and its association with CREB were assessed by coimmunoprecipitation assay and CRTC2-CREB complex binding by a chromatin immunoprecipitation assay.     ///    \"This inhibits transcription of StAR by disrupting formation of the CREB-CRTC2 complex, involved in activation of the StAR promoter cAMP response element. \"    ///    Metformin inhibits StAR expression in human endometriotic stromal cells via AMPK-mediated disruption of CREB-CRTC2 complex formation.. '), ('9258', 'P65_P50', '', 'P65', 'P50', '16623827', '10', '', '', '', '', '', '', '', '', '', 'These treatments, transiently applied before Abeta exposure, completely inhibited p50/p65 nuclear translocation and neuronal damage.     ///    These results open up interesting perspectives on the development of novel strategies targeting out NF-kappaB p50/p65 dimers for pharmacological intervention in AD.. '), ('9259', 'CYP1B1_CYP1A1', '', 'CYP1B1', 'CYP1A1', '23210792', '10', 'skin cancer', '', '', '', '', '', '', '', '', 'Verbascoside invariably inhibited molecular pathways in HEK leading to inflammatory cytokine expression (NFkappaB and EGFR/ERK phosphorylation), and cell proliferation (EGFR nuclear translocation), and displayed a stimulus-specific effect on the metabolic axis aryl hydrocarbon receptor (AhR)-CYP1A1/CYP1B1. '), ('9260', 'P65_NFKB1', '', 'P65', 'NFKB1', '18474228', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Ceftiofur also inhibited p65-NF-kappaB translocation into the nucleus. '), ('9261', 'IGH_CCND1', '', 'IGH', 'CCND1', '21677543', '10', 'hairy cell leukemia;mantle cell lymphoma', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A case of hairy cell leukemia with CCND1-IGH@ translocation: indolent non-nodal mantle cell lymphoma revisited..     ///    \" CCND1-IGH@ translocation is considered pathognomonic of mantle cell lymphoma (MCL), as this distinct chromosomal abnormality has not been reported in any other subtypes of mature B-cell lymphoma. \"    ///    This case suggests that CCND1-IGH@ may rarely occur in other mature B-cell neoplasms such as HCL. '), ('9262', 'P65_P50', '', 'P65', 'P50', '21703248', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Results show that 4\'-hydroxychalcone inhibits TNF?-dependent degradation of I?B? and subsequently prevents p50/p65 nuclear translocation leading to 4\'-hydroxychalcone-inhibited expression of NF-?B target genes. '), ('9263', 'EGFR_EGF', '', 'EGFR', 'EGF', '20476759', '10', '', '', 'Kinase', '', '', '', '', '', '', 'The intrinsic nuclear translocation property of EGF/EGFR leads to a significant increase in the nuclear uptake of T-BCM-25 in vitro and in vivo via active transport. '), ('9264', 'NFKB1_IkappaB', '', 'NFKB1', 'IkappaB', '9034250', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' Cytosolic reactions of the nuclear factor kappa B/inhibitor (NF-kappaB/IkappaB) complex leading to its activation, NF-kappaB translocation into the nucleus, DNA binding, and transactivation have been described with some degree of clarity, but the upstream processes that stimulate those cytosolic reactions remain obscure. '), ('9265', 'TNFA_IFNG', '', 'TNFA', 'IFNG', '15153522', '10', 'insulinoma', '', '', '', '', '', '', '', '', 'IFN-gamma/TNF-alpha induced cytochrome c translocation from mitochondria to cytoplasm and activation of caspase-9.     ///     We studied the intracellular events associated with pancreatic beta cell apoptosis by IFN-gamma/TNF-alpha synergism.     ///    These results indicate that IFN-gamma/TNF-alpha synergism induces pancreatic beta cell apoptosis by Ca(2+) channel activation followed by downstream intracellular events such as mitochondrial events and caspase activation and also suggest the therapeutic potential of Ca(2+) modulation in type 1 diabetes..     ///    \"IFN-gamma/TNF-alpha treatment of MIN6N8 insulinoma cells increased the amplitude of high voltage-activated Ca(2+) currents, while treatment with IFN-gamma or TNF-alpha alone did not. \"    ///    A protein kinase C inhibitor attenuated MIN6N8 cell death and the increase in [Ca(2+)](c) by IFN-gamma/TNF-alpha.     ///    Blockade of L-type Ca(2+) channel by nifedipine abrogated death of insulinoma cells by IFN-gamma/TNF-alpha.     ///    \"Following the increase in [Ca(2+)](c), calpain was activated, and calpain inhibitors decreased insulinoma cell death by IFN-gamma/TNF-alpha. \"    ///    Effector caspases such as caspase-3 or -7 were also activated by IFN-gamma/TNF-alpha treatment.     ///    Role of calcium in pancreatic islet cell death by IFN-gamma/TNF-alpha..     ///    Cytosolic Ca(2+) concentration ([Ca(2+)](c)) was also increased by IFN-gamma/TNF-alpha treatment.     ///    \"BAD phosphorylation was decreased by IFN-gamma/TNF-alpha because of the increased calcineurin activity, which was reversed by FK506. \"    ///    \"As a downstream of calpain, calcineurin was activated and the inhibition of calcineurin activation by FK506 diminished insulinoma cell death by IFN-gamma/TNF-alpha. \"    ///    \"Diazoxide that attenuates voltage-activated Ca(2+) currents inhibited MIN6N8 cell death by IFN-gamma/TNF-alpha, while glibenclamide that accentuates voltage-activated Ca(2+) currents augmented insulinoma cell death. \"'), ('9266', 'SYT_SSX', '', 'SYT', 'SSX', '18835266', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Notably, SYT is a component of the synovial sarcoma-associated translocation product, the SYT-SSX oncogene. '), ('9267', 'TAZ_ER', '', 'TAZ', 'ER', '9833770', '10', 'breast cancer', '', '', '', '', '', '', '', '', 'Nuclear location of [3H]TAZ-ER complexes may explain this discrepancy, since pure AE-ER complexes were reported to be incapable of nuclear translocation.. '), ('9268', 'MYC_IGH', '', 'MYC', 'IGH', '21585311', '10', 'systemic lupus erythematosus\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In addition, consistent with our previous findings in MRL/Fas(lpr/lpr) mice that upregulated AID expression is associated with extensive DNA lesions, comprising deletions and insertions in the IgH locus, we found that c-Myc to IgH (c-Myc/IgH) translocations occur frequently in B cells of MRL/Fas(lpr/lpr) mice.     ///    AID dysregulation in lupus-prone MRL/Fas(lpr/lpr) mice increases class switch DNA recombination and promotes interchromosomal c-Myc/IgH loci translocations: modulation by HoxC4..     ///    \"These findings suggest that in lupus B cells, upregulation of HoxC4 plays a major role in dysregulation of AID expression, thereby increasing CSR and autoantibody production and promoting c-Myc/IgH translocations.. \"'), ('9269', 'IGH_BCL2', '', 'IGH', 'BCL2', '25384212', '10', 'follicular lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'demonstrate that memory B cells harboring the oncogenic BCL2:IGH translocation, which results in constitutive BCL2 expression, survive multiple GC entries upon repetitive immunization.     ///    \"Through these multiple GC reentries, the hallmark BCL2:IGH translocation enables AID-induced hypermutation and propagates clonal evolution toward malignant follicular lymphoma. \"'), ('9270', 'TAK1_TAB1', '', 'TAK1', 'TAB1', '17673602', '10', '', '', '', '', '', '', '', '', '', 'GA suppressed NF-kappaB activation induced by various inflammatory agents and carcinogens and this, accompanied by the inhibition of TAK1/TAB1-mediated IKK activation, inhibited IkappaBalpha phosphorylation and degradation, suppressed p65 phosphorylation and nuclear translocation, and finally abrogated NF-kappaB-dependent reporter gene expression.     ///    \"The NF-kappaB activation induced by TNFR1, TRADD, TRAF2, NIK, TAK1/TAB1, and IKKbeta was also inhibited. \"'), ('9271', 'CCND1_CDK4', '', 'CCND1', 'CDK4', '15474160', '10', 'adenocarcinoma;retinoblastoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Loss of heterozygosity abnormalities in RB1 and CKDN2A coexisted with altered cyclin D1-cdk4 complex immunoreactivity only in 2 patients, both less than 50 years of age. '), ('9272', 'SSX_SS18', '', 'SSX', 'SS18', '25438927', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'As one of the first sarcomas to be defined by the presence of a specific chromosomal translocation leading to the production of the SS18-SSX fusion oncogene, it is perhaps the archetypal \"translocation-associated sarcoma,\" and its translocation remains unique to this tumor type.     ///    \"However, there is significant morphologic heterogeneity and overlap with a variety of other neoplasms, which can cause diagnostic challenge, particularly as the immunoprofile is varied, SS18-SSX is not detected in 100% of SSs, and they may occur at unusual sites. \"'), ('9273', 'TIP60_PDCD5', '', 'TIP60', 'PDCD5', '22261045', '10', '', '', '', '', '', '', '', '', '', 'Furthermore, the model simulations revealed that PDCD5 nuclear translocation can attenuate cell apoptosis, and PDCD5 interactions with Tip60 can accelerate DNA damage-induced apoptosis, but the final cell fate decision is insensitive to the PDCD5-Tip60 interaction. '), ('9274', 'EML4_ALK', '', 'EML4', 'ALK', '21156280', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' It was only 3 years ago that an acquired translocation of EML4 with ALK leading to the expression of an EML4-ALK oncoprotein in non-small cell lung cancer (NSCLC) was reported.     ///    \"Tumor cells expressing EML4-ALK are \"\"addicted\"\" to its continued function. \"'), ('9275', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15252732', '10', 'papillary carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PPARgamma protein overexpression was absent in all OCAs tested and present in only 10% of OCCs, confirming previous reports on the low prevalence of PAX8-PPARgamma translocations in OCT and ruling out its role as a potential diagnostic marker of malignancy.. '), ('9276', 'P65_P50', '', 'P65', 'P50', '21484152', '10', '', '', '', '', '', '', '', '', '', 'Western blot analysis allowed assessing the inhibitory effect of the neem extract on TNF-?-induced degradation of inhibitor of ?B (I?B) and nuclear translocation of the NF-?B p50/p65 heterodimer. '), ('9277', 'FLI_EWS', '', 'FLI', 'EWS', '21623206', '10', 'small cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'This was excluded by molecular studies that showed no evidence of EWS/FLI-1 or EWS/ERG translocation.. '), ('9278', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '26185316', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'CD13 was often detected in ETV6-RUNX1 with additional RUNX1 gain (38%) with an even higher frequency in double ETV6-RUNX1 translocation (77%), but was not detected in RUNX1 amplification (0%, P < .05).     ///    \"We compared clinicopathologic factors, including age, sex, WBC count, cerebrospinal fluid (CSF) involvement, immunophenotype, and blast proliferation rate between B-ALL with RUNX1 amplification (10 cases) and B-ALL with ETV6-RUNX1 translocation (67 cases) in childhood B-ALL. \"    ///    \"CD7 was often expressed in RUNX1 amplification but not in ETV6-RUNX1 (44% vs 0%, P = .0001) and appeared to correlate with CSF involvement in the former group (3/4 [75%]). \"    ///     Abnormalities of the RUNX1 gene in childhood B-acute lymphoblastic leukemia (B-ALL) are manifested by ETV6-RUNX1 or RUNX1 amplification.     ///    \"Children with RUNX1 amplification were older and more often CSF positive, while those with ETV6-RUNX1 were younger, more frequently had hyperleukocytosis, and had higher blast proliferation rates. \"'), ('9279', 'MTOR_S6K1', '', 'MTOR', 'S6K1', '20657550', '10', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Deactivation of mTOR-S6K1 signalling leads to Mdm2 nuclear translocation, which is facilitated by S163 phosphorylation, a reduction in p53 induction, and an alteration in p53-dependent cell death.     ///    DNA damage activates mTOR-S6K1 through p38alpha MAPK.     ///    These findings thus establish mTOR-S6K1 as a novel regulator of p53 in DNA damage response and likely in tumorigenesis. '), ('9280', 'P67_P47', '', 'P67', 'P47', '17456219', '10', 'bronchial asthma', '', '', '', '', '', '', '', '', 'NAC (1 mm) did not alter the fMLP-induced Ca(2+) signal but augmented the eosinophil content of reduced GSH and inhibited p47(phox)-p67(phox) translocation.     ///    \"flow cytometry), p47(phox)-p67(phox) translocation (Western blot) and eosinophil cationic protein (ECP) release (radioimmunoassay). \"'), ('9281', 'ETO_AML1', '', 'ETO', 'AML1', '15516979', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', ' Microarray analyses were performed to identify target genes that are shared by the acute myeloid leukemia (AML) translocation products PML-RARalpha, PLZF-RARalpha and AML1-ETO in inducibly transfected U937 cell lines. '), ('9282', 'P65_P50', '', 'P65', 'P50', '12515635', '10', '', '', '', '', '', '', '', '', '', 'Burn sera might induce the nuclear translocation of endothelial NF-kappaB p50/p65 and IkappaBalpha degradation and activate NF-kappaB, which ultimately lead to the secretion of cytokines from the endothelium..     ///    \" To investigate the effects of burn sera on the nuclear translocation of endothelial NF-kappaB heterodimers p50/p65 and on the degradation of inhibiting kappaB (IkappaBalpha), in order to explore the role of burn sera on activation of the endothelium. \"    ///    \"The nuclear translocation of endothelial p50/p65 at 30, 60, 120 and 480 mins after the stimulation was observed with laser confocal microscopy, and the endothelial IkappaBalpha protein degradation at 30, 60, 90 and 120 mins after the stimulation was determined by Western blotting. \"    ///    \"When compared to that in control group, the nuclear translocation of p50/p65 took place 30 mins after the endothelial cells were stimulated by burn sera, and it reached the summit at 30 - 60 mins, but recovered to pre-stimulation state at 2hrs. \"    ///    The nuclear translocation of endothelial p50/p65 and IkBalpha degradation at 30 and 60 mins after the stimulation by burn sera could be effectively inhibited by PDTC. '), ('9283', 'MMSET_FGFR3', '', 'MMSET', 'FGFR3', '18216867', '10', 'plasma cell leukemia', '', 'Kinase', '', '', '', '', '', '', 'in pPCL IgH translocations almost exclusively involve 11q13 (CCND1), supporting a central etiological role, while in sPCL multiple partner oncogenes are involved, including 11q13, 4p16 (FGFR3/MMSET) and 16q23 (MAF), recapitulating MM. '), ('9284', 'DSS_AOM', '', 'DSS', 'AOM', '21799775', '10', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Beta-catenin expression was strongly membranous in IL-10(-/-) mice, while 87.50% of AOM/DSS-induced tumors showed cytoplasmatic and/or nuclear translocation of beta-catenin.     ///    \"CIN was detected in 81.25% of all murine CACs induced by AOM/DSS, while all carcinomas that arose in IL-10(-/-) mice were chromosomally stable. \"    ///    The AOM/DSS model (n?=?23) and IL-10(-/-) mice (n?=?8) were applied to monitor malignancy development via endoscopy and to analyze premalignant and malignant stages of CACs.     ///    \"AOM/DSS-colitis, but not IL-10(-/-) mice, could provide a powerful murine model to mechanistically investigate CIN in colitis-associated carcinogenesis.. \"');
INSERT INTO `ChimerPub_dump` VALUES ('9285', 'SYT_SSX', '', 'SYT', 'SSX', '19333234', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' SYT-SSX protein, resulted from chromosomal translocation, causes synovial sarcoma, which is a malignant tumor accounting for 10% of soft tissue sarcoma. '), ('9286', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '24648275', '10', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The distribution of common genetic abnormalities reflected a similar percentage of hyperdiploidy (25.6%), but a lower percentage of ETV6-RUNX1 translocation (14.7%) compared to large series reported from Western populations. '), ('9287', 'P65_NFKB1', '', 'P65', 'NFKB1', '15493960', '10', 'skin cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Using immunoblot analysis, enzyme-linked immunosorbent assay and electrophoretic mobility shift assay, we found that PFE treatment to NHEK resulted in a dose- and time-dependent inhibition of UV-B-mediated nuclear translocation and phosphorylation of NF-kappaB/p65 at Ser(536). '), ('9288', 'RAD50_MRE11', '', 'RAD50', 'MRE11', '16478990', '10', 'Nijmegen breakage syndrome', '', '', '', '', '', '', '', '', 'To discriminate whether nibrin\'s role in Atm activation is to bind and translocate Mre11/Rad50 to the nucleus or to interact directly with Atm, we expressed an Mre11 transgene with a C-terminal NLS sequence in NBS fibroblasts.     ///    These results indicate that nibrin plays an active role in Atm activation beyond translocating Mre11/Rad50 to the nucleus and that this function requires nibrin-Atm interaction..     ///    The nibrin DeltaAtm protein interacted with Mre11/Rad50. '), ('9289', 'HER4_EGFR', '', 'HER4', 'EGFR', '25398453', '10', 'breast cancer', 'FISH;PCR;RT-PCR ', 'Kinase', '', '', '', '', '', '', 'Among HER2(+) patients, the only biomarker predictive of Ki67 response was the EGFR/HER4 ligand epiregulin (EREG) (rho = -0.7. '), ('9290', 'STAT3_JAK2', '', 'STAT3', 'JAK2', '24055519', '10', '', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Furthermore, DSF-52 blocked Jak2/Stat3 dependent inflammation pathway through inhibiting Jak2 and Stat3 phosphorylation, as well as Stat3 nuclear translocation.     ///    \"Sesquiterpene dimer (DSF-52) from Artemisia argyi inhibits microglia-mediated neuroinflammation via suppression of NF-?B, JNK/p38 MAPKs and Jak2/Stat3 signaling pathways.. \"'), ('9291', 'MAML2_CRTC1', '', 'MAML2', 'CRTC1', '24468654', '10', 'pleomorphic adenoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', ' To study genetic alterations in lacrimal gland pleomorphic adenoma (PA) and carcinoma ex pleomorphic adenoma (Ca-ex-PA) with focus on copy number changes and expression patterns of the translocation target genes PLAG1, HMGA2, and CRTC1-MAML2 in relation to clinical data.     ///    \"Genome wide, high-resolution array-based comparative genomic hybridization (arrayCGH) and immunohistochemistry were used to study the genomic profiles and expression patterns of the translocation targets PLAG1, HMGA2, and CRTC1-MAML2. \"    ///    \"Copy number alterations (gains/losses) and protein expression of PLAG1, HMGA2, and CRTC1-MAML2. \"    ///    The CRTC1-MAML2 fusion oncoprotein was overexpressed in 2 mucoepidermoid Ca-ex-PAs. '), ('9292', 'MEK_ERK', '', 'MEK', 'ERK', '27032751', '10', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In conclusion, this study illustrated that PKC? increased SREBP-2 nuclear translocation in a pathway mediated by MEK/ERK and JNK, rather than the one dictated by AMPK. '), ('9293', 'PDGFRB_ATF7IP', '', 'PDGFRB', 'ATF7IP', '24628626', '10', '', '', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', '', '', ' We identified ATF7IP as a novel PDGFRB fusion partner in B-progenitor acute lymphoblastic leukaemia (B-ALL) and showed that B-ALL with ATF7IP/PDGFRB translocation is included within the genomic lesions of a Philadelphia chromosome (Ph)-like ALL subgroup. '), ('9294', 'TCRD_HOXA', '', 'TCRD', 'HOXA', '16572206', '10', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'HOXA cluster deregulation in T-ALL associated with both a TCRD-HOXA and a CALM-AF10 chromosomal translocation.. '), ('9295', 'PLC_DELTA1', '', 'PLC', 'DELTA1', '15809301', '10', '', '', '', '', '', '', '', '', '', 'Nuclear translocation of phospholipase C-delta1 is linked to the cell cycle and nuclear phosphatidylinositol 4,5-bisphosphate.. '), ('9296', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '23091296', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', 'Receptor', '', '', '', 'Of 268 cases without recurrent chromosomal translocations and high hyperdiploidy, representing approximately 50% of all cases, 67 (25%) were P2RY8-CRLF2 positive.     ///    \"To investigate whether and to what extent different clone sizes influence disease and relapse development, we quantified the genomic P2RY8-CRLF2 fusion product and correlated it with the corresponding CRLF2 expression levels in patients enrolled in the BFM-ALL 2000 protocol in Austria. \"    ///     The P2RY8-CRLF2 fusion defines a particular relapse-prone subset of childhood acute lymphoblastic leukemia (ALL) in Italian Association of Pediatric Hematology and Oncology Berlin-Frankfurt-M?nster (AIEOP-BFM) 2000 protocols. '), ('9297', 'MALT1_API2', '', 'MALT1', 'API2', '21160595', '10', 'MALT lymphoma', '', '', '', '', '', '', '', '', 'Neoplasia confined to the submucosa, localized in the antral region of the stomach, and without API2-MALT1 translocation, shows a high probability of remission following H. '), ('9298', 'IL4_IL15', '', 'IL4', 'IL15', '15153534', '10', '', '', '', '', '', '', '', '', '', 'Treatment of purified B cells with combination IL-15/IL-4 resulted in abrogation of glucocorticoid receptor nuclear translocation and the inability of DEX to suppress cytokine production by B cells. '), ('9299', 'HBEGF_CTF', '', 'HBEGF', 'CTF', '19337254', '10', 'gastric cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Inhibition of HB-EGF-CTF nuclear translocation and maintenance of BCL6 function are important for the regulation of gastric cancer progression..     ///    \"The HB-EGF-CTF nuclear translocation leads to the interaction of BCL6 with HB-EGF-CTF and the nuclear export of BCL6, and after that BCL6 degradation was mediated by ubiquitin/proteasome pathway. \"    ///    This phenomenon was inhibited by the suppression of the nuclear translocation of HB-EGF-CTF (C-terminal fragment of pro-HB-EGF).     ///    Our data indicate that BCL6 interacts with nuclear-translocated HB-EGF-CTF and that the nuclear export and degradation of BCL6 induces cyclin D2 upregulation.     ///    BCL6 degradation caused by the HB-EGF-CTF also might induce cyclin D2 expression in human gastric cancers. '), ('9300', 'MAPK3_P42', '', 'MAPK3', 'P42', '14607283', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Taken together, these findings suggest that NGF and LPA exert cross-talk regulation both at the level of p42/p44 MAPK signaling and in the nuclear translocation of LPA(1) and Trk A receptors..     ///    \"Fourth, the over-expression of C-terminal GRK2 peptide (which sequesters G-protein betagamma subunits) or beta-arrestin I clathrin binding domain (amino acids: 319-418) or pre-treatment of cells with pertussis toxin reduced the LPA- and NGF-dependent stimulation of p42/p44 MAPK. \"    ///    \"First, the treatment of PC12 cells, which express LPA(1) receptors, with a sub-maximal concentration of LPA and NGF induced synergistic activation of p42/p44 MAPK. \"    ///    These findings support a model in which the Trk A receptor uses a G-protein-mediated mechanism to regulate the p42/p44 MAPK pathway.     ///     We report here that the nerve growth factor (NGF) and lysophosphatidate (LPA) receptor signaling systems interact to regulate the p42/p44 MAPK pathway in PC12 cells.     ///    \"Second, the transfection of PC12 cells with LPA(1) receptor anti-sense construct, which reduced the expression of LPA(1), abrogated both LPA- and NGF-stimulated activation of p42/p44 MAPK. \"    ///    \"Third, the over-expression of recombinant LPA(1) receptor potentiated LPA- and NGF-dependent activation of p42/p44 MAPK. \"'), ('9301', 'P65_P50', '', 'P65', 'P50', '23845509', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Moreover, GTN down-regulated translocation of the p50/p65 heterodimer to the nucleus, prevented binding of NF-?B to its DNA response element and reduced TNF-?-activated interleukin-8 (IL-8) expression. '), ('9302', 'SCGB2A2_SBEM', '', 'SCGB2A2', 'SBEM', '12019145', '10', 'breast cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'Interestingly, a higher SBEM:mammaglobin-1 ratio was observed in primary tumors with axillary lymph node metastasis than in node-negative tumors (n = 46. '), ('9303', 'XPO1_MLLT10', '', 'XPO1', 'MLLT10', '25377562', '10', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'Cryptic XPO1-MLLT10 translocation is associated with HOXA locus deregulation in T-ALL.. '), ('9304', 'NLS_GPCR', '', 'NLS', 'GPCR', '17289935', '10', '', '', '', '', '', '', '', '', '', 'GPCR-NLS translocation and blockade occurred regardless of the identity of the G-protein-coupling, and thus this assay is also ideally suited for identification of compounds targeting orphan GPCRs.     ///    \"Blockade of the GPCR-NLS translocation from the cell surface was achieved by either antagonist or agonist treatments, each achieving their result in a sensitive concentration-dependent manner. \"    ///    The GPCR-NLS trafficking was visualized by fusion to fluorescent detectable proteins. '), ('9305', 'SYT_SSX2', '', 'SYT', 'SSX2', '17509396', '10', 'synovial sarcoma;gastrointestinal stromal tumor;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Primary monophasic synovial sarcoma of the duodenum with SYT/SSX2 type of translocation..     ///    We report a case of a primary synovial sarcoma of the distal duodenum with SYT/SSX2 type of the t(X;18) translocation. '), ('9306', 'MLL_ALL1', 't(14;18)  / t(4;11)  / t(4;11) (q21;q23) / t(14;18)(q32;q21) / ', 'MLL', 'ALL1', '9293903', '10', 'acute myeloid leukemia;myeloid leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'As demonstrated by Southern blot analysis, BCL2 at 18q21, but not MLL/ALL1 at 11q23, was involved in these translocations. '), ('9307', 'RARA_PML', '', 'RARA', 'PML', '20376583', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Comparative monitoring of MRD by RQ-PCR for the Wilms\' tumor gene 1(WT1) or specific translocation markers demonstrated that BAALC had similar kinetics as WT1, AML1/ETO and minor BCR/ABL, but not PML/RARA. '), ('9308', 'IL4_IL2', '', 'IL4', 'IL2', '22911818', '10', 'asthma\r\r', '', '', '', '', '', '', '', '', 'We also found that SB203580 partially inhibited GR phosphorylation at serine 226, resulting in increased GR nuclear translocation in IL-2/IL-4 treated corticosteroid insensitive U937s. '), ('9309', 'EML4_ALK', '', 'EML4', 'ALK', '22999080', '10', 'adenocarcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Clinicians should be attentive of the evolution of brain metastases with patients presenting EML4-ALK translocation..     ///    We report the case of an adenocarcinoma of the lung associated with metachronous miliary brain and lung metastases with an echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) gene translocation. '), ('9310', 'BCR_ABL1', '', 'BCR', 'ABL1', '23876601', '10', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 translocation is a hallmark of chronic myeloid leukemia.     ///    \"Because patients treated with imatinib and other tyrosine kinase inhibitors achieve lower levels of detectable disease, quantitation of BCR-ABL1 transcripts with quantitative RT-PCR has become an essential tool in chronic myeloid leukemia monitoring. \"    ///    Achieving defined levels of BCR-ABL1 on the International Scale within specific time frames is an important measure for assessing patient response and probability for relapse and progression.     ///    Molecular monitoring of chronic myeloid leukemia: international standardization of BCR-ABL1 quantitation.. '), ('9311', 'quinone oxidoreductase_NADPH', '', 'quinone oxidoreductase', 'NADPH', '26492067', '10', '', '', '', '', '', '', '', '', '', 'Furthermore, EEEC treatment enhanced the level of the phosphorylated form of nuclear factor erythroid 2- related factor 2 (Nrf2) and its nuclear translocation, which was associated with the induction of heme oxygenase-1 (HO-1) and NADPH-quinone oxidoreductase 1 (NQO-1). '), ('9312', 'P65_P50', '', 'P65', 'P50', '11940753', '10', 'cardiac failure\r\r', '', '', '', '', '', '', '', '', 'Examination of myocardial tissue samples revealed nuclear factor-kappaB nuclear translocation (predominantly p50/p65 heterodimers) in nine of 15 patients (60%). '), ('9313', 'P50_P105', '', 'P50', 'P105', '21734075', '10', '', '', '', '', '', '', '', '', '', 'These results suggest IL-4 influences NF-?B pathways by increasing p105/p50 and suppressing RANKL-induced p52 translocation and that NF-?B pathways participate in both RANKL- and IL-4-induced giant cell formation.. '), ('9314', 'NUP98_HOX', '', 'NUP98', 'HOX', '21948299', '10', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'Several of the NUP98 fusions, including NUP98-homeobox (HOX)A9, NUP98-HOXD13, and NUP98-JARID1A, have been used to generate animal models of both lymphoid and myeloid malignancy. '), ('9315', 'NUP98_HOXD13', '', 'NUP98', 'HOXD13', '21948299', '10', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'Several of the NUP98 fusions, including NUP98-homeobox (HOX)A9, NUP98-HOXD13, and NUP98-JARID1A, have been used to generate animal models of both lymphoid and myeloid malignancy. '), ('9316', 'TCF3_PBX1', '', 'TCF3', 'PBX1', '20442364', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;down syndrome\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'We reviewed data from 2811 children with ALL enrolled in Children\'s Oncology Group P9900, which included prospective testing for the major cytogenetic lesions in childhood ALL: ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, and MLL translocations and trisomies of chromosomes 4 and 10. '), ('9317', 'P85_PAK2', '', 'P85', 'PAK2', '14557270', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Both wild-type and mutant p85 betaPIX displaying negative GEF activity (L238R/L239S) are similarly recruited to growth cones, suggesting that Rac1 activation is not essential for translocation of the PIX complex (PAK2-p85 betaPIX-Rac1). '), ('9318', 'P65_NFKB1', '', 'P65', 'NFKB1', '16644735', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Mechanistically, our data indicated that, in response to TNFalpha, NFkappaB/p65 phosphorylation and translocation as well as IkappaBalpha phosphorylation and degradation were unchanged, suggesting that Lnk does not modulate NFkappaB activity. '), ('9319', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '15990705', '10', 'cryoglobulinemia;hepatitis', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In tumor biopsy specimens from 32 HCV-positive NHL patients, bcl-2/IgH translocation was detected in 1 of 13 patients with MC syndrome (7.7%) and 3 of 19 patients without MC syndrome (15.8%).     ///    \"Although the frequency of bcl-2/IgH translocation in PBMCs from patients with chronic HCV infection is higher than that of other NHL patients, this increased translocation rate remains to be elucidated.. \"    ///    \"Interestingly, bcl-2/IgH translocation was found in 2 extranodal marginal zone B-cell lymphoma tissues from HCV-infected patients. \"    ///    Frequency of bcl-2/IgH translocation in patients with non-Hodgkin\'s lymphoma and chronic hepatitis C virus infection.. '), ('9320', 'MOR_CRT', '', 'MOR', 'CRT', '23142605', '10', '', '', '', '', '', '', '', '', '', 'In the present study, we demonstrated that chronic morphine treatment sensitized EGFR signaling by augmenting EGFR phosphorylation and translocation into ER, which was essential for CRT-MOR tethering within the lipid rafts and AC5 superactivation.     ///    \"Intriguingly, synaptic clustering of CRT-MOR was dependent on EGFR phosphorylation and presumed to implicate in alignment and organization of synaptic compartments. \"'), ('9321', 'CAS2_ERK', '', 'CAS2', 'ERK', '19778377', '10', '', '', '', '', '', '', '', '', '', 'In addition, actin cytoskeleton influenced the nuclear translocation of caveolin-2-ERK complex. '), ('9322', 'ATRIP_ATR', '', 'ATRIP', 'ATR', '16176973', '10', '', '', 'Kinase', '', '', '', '', '', '', 'The coiled-coil domain of human ATRIP contributes to self-dimerization in vivo, which is important for the stable translocation of the ATR-ATRIP complex to nuclear foci that are formed after exposure to genotoxic stress.     ///    \"These results show that there are two critical functions of ATR-ATRIP after the exposure to genotoxic stress: maintenance of the integrity of replication machinery and execution of cell cycle arrest, which are separable and are achieved via distinct mechanisms. \"'), ('9323', 'RAB7_RILP', '', 'RAB7', 'RILP', '17283181', '10', '', '', '', '', '', '', '', '', '', 'Dynein will initiate translocation of late endosomes to microtubule minus ends only after interacting with betaIII spectrin, which requires the activities of Rab7-RILP and ORP1L..     ///    \"Finally, the specific dynein motor receptor Rab7-RILP is transferred by ORP1L to betaIII spectrin. \"    ///    \"Still, p150(Glued) recruitment by Rab7-RILP does not suffice to induce dynein-driven minus-end transport of LEs. \"'), ('9324', 'MEK1_ERK', '', 'MEK1', 'ERK', '17054908', '10', 'pemphigus', '', '', '', '', '', '', '', '', 'Our data suggest that overexpression of TNFalpha leads to topical GC insensitivity by reducing GR nuclear translocation in keratinocytes, and our findings also suggest that inhibiting the MEK-1/ERK cascade may offer a therapeutic potential for increasing GC efficacy in epidermis where sufficient inflammatory suppression is required..     ///    Mitogen-activated protein kinase kinase 1/extracellular signal-regulated kinase (MEK-1/ERK) inhibitors sensitize reduced glucocorticoid response mediated by TNFalpha in human epidermal keratinocytes (HaCaT)..     ///    This is the first study demonstrating a role of the MEK-1/ERK cascade in TNFalpha-mediated GC insensitivity.     ///    \"However, we observed that mitogen-activated protein kinase kinase-1/extracellular signal-regulated kinase (MEK-1/ERK) inhibitors (PD98059 and U0126) significantly sensitized the GC-induced transactivation of anti-inflammatory genes (glucocorticoid-induced leucine zipper (GILZ) and mitogen-activated protein kinase phosphatase (MKP)-1) and FK506 binding protein (FKBP) 51 gene in the presence of TNFalpha. \"'), ('9325', 'S100C_A11', '', 'S100C', 'A11', '15241500', '10', '', '', '', '', '', '', '', '', '', 'We previously demonstrated that S100C/A11 was translocated to nuclei and inhibited DNA synthesis in human keratinocytes when exposed to high Ca2+.     ///    Introduction of an N-terminal peptide of S100C/A11 into human cells induces apoptotic cell death..     ///    In the present study we examined the effects of synthetic partial peptides of S100C/A11 on human carcinoma cell lines. '), ('9326', 'EGFR_GPR30', '', 'EGFR', 'GPR30', '25275589', '10', 'breast cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'Further, the G-1 induced sustained activation and nuclear translocation of ERK1/2, which was mediated by GPR30/epidermal growth factor receptor (EGFR) signals, also mediated its inhibition effects of G-1.     ///    \"With extensive use of siRNA-knockdown experiments and inhibitors, we found that upregulation of p21 by the cross-talk of GPR30/EGFR and p53 was also involved in G-1-induced cell growth arrest. \"'), ('9327', 'P53_GRP75', '', 'P53', 'GRP75', '24465691', '10', 'hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'Blocking GRP75 with its inhibitor MKT-077 potentiated the anti-tumor effects of 17-AAG by disrupting the formation of GRP75-p53 complexes, thereby facilitating translocation of p53 into the nuclei and leading to the induction of apoptosis-related genes. '), ('9328', 'MVP_LRP ', '', 'MVP', 'LRP ', '22235652', '10', '', '', '', '', '', '', '', '', '', 'The histopathology research demonstrated an increased amount of MVP/LRP proteins in the cancer as well as showed translocation possibility between cytoplasm and nuclear envelope, which can be of crucial point in the prevention of nucleus against anticancer drugs.. '), ('9329', 'SNCA_HMGB1', '', 'SNCA', 'HMGB1', '24178442', '10', 'parkinson disease', '', '', '', '', '', 'Transcription_Factor', '', '', 'Corynoxine B, a natural autophagy inducer, restores the deficient cytosolic translocation of HMGB1 and autophagy in cells overexpressing SNCA, which may be attributed to its ability to block SNCA-HMGB1 interaction. '), ('9330', 'P65_NFKB1', '', 'P65', 'NFKB1', '15375156', '10', 'pancreatic cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Hypoxia promoted degradation of an inhibitor of kappaB(IkappaBalpha), NFkappaB-p65 translocation into the nucleus, NFkappaB binding to DNA, and subsequent transactivation of NFkappaB, which increased X chromosome-linked inhibitor of apoptosis protein levels. '), ('9331', 'RAPL_MST1', '', 'RAPL', 'MST1', '16892067', '10', '', '', '', '', '', '', '', '', '', 'RAPL and Mst1 localized to vesicular compartments and dynamically translocated with LFA-1 to the leading edge upon Rap1 activation, suggesting a regulatory function for the RAPL-Mst1 complex in intracellular transport of LFA-1. '), ('9332', 'MEK1_ERK', '', 'MEK1', 'ERK', '16385547', '10', 'antiphospholipid syndrome', '', '', '', '', '', '', '', '', 'Our results suggest that aPL induces TF expression in monocytes from APS patients by activating, simultaneously and independently, the phosphorylation of MEK-1/ERK proteins, and the p38 MAP kinase-dependent nuclear translocation and activation of NF-kappaB/Rel proteins..     ///    \"However, the MEK-1/ERK inhibitor PD98059 did not affect aPL-induced NF-kappaB binding activity. \"    ///    \"Antiphospholipid antibodies from patients with the antiphospholipid syndrome induce monocyte tissue factor expression through the simultaneous activation of NF-kappaB/Rel proteins via the p38 mitogen-activated protein kinase pathway, and of the MEK-1/ERK pathway.. \"'), ('9333', 'HSP70_HSP40', '', 'HSP70', 'HSP40', '15448148', '10', '', '', '', '', '', '', '', '', '', 'Two of these agents also compromised the Hsp70/Hsp40-mediated post-translational translocation of a secreted pre-protein in vitro.     ///    \"Together, these data indicate the potential for continued screening of small molecule Hsp70 effectors and that specific modulators of Hsp70-Hsp40 interaction can be obtained, potentially for future therapeutic use.. \"'), ('9334', 'MECT1_MAML2', '', 'MECT1', 'MAML2', '19900633', '10', 'pleomorphic adenoma', '', '', '', '', '', '', '', '', 'The mucoepeidermoid carcinoma translocated 1--mastermind like gene family (MECT1-MAML2) translocation, characterizing mucoepidermoid carcinoma, is also a prognostic marker. '), ('9335', 'PRB_P16', '', 'PRB', 'P16', '8971152', '10', 'lung cancer;retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'These results suggest that alteration of the p16/pRB pathway is relatively frequently involved in the development and progression of NSCLCs and that its effect on the proliferative activity is potentially synergistic with altered p53 protein.. '), ('9336', 'TCR_CD3', '', 'TCR', 'CD3', '8666784', '10', '', '', '', '', '', '', '', '', '', ' In untransformed T lymphocytes, pp19/cofilin, a cytoplasmic actin-binding protein, undergoes dephosphorylation and nuclear translocation in response to costimulation through accessory receptors (e.g., CD2), but not following TCR/CD3 triggering. '), ('9337', 'NES_ECP', '', 'NES', 'ECP', '11036989', '10', '', '', '', '', '', '', '', '', '', 'The study showed that the Northeast States and Eastern Canadian Provinces (NES/ECP) is a region impacted by airborne mercury.     ///    Annual mercury emissions for the NES/ECP region are estimated to be approximately 19 t (12%) of the combined Canadian and US national anthropogenic mercury emissions of 155 t/year.     ///    Regional mercury wet deposition for the NES/ECP region was 7-11 microg/m2/year. '), ('9338', 'MAPK14_JNK', '', 'MAPK14', 'JNK', '24707477', '10', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Moreover, CBHA significantly enhanced mitogen-activated protein kinase phosphatase-(MKP-) 5/MKP-1 expression and inhibited p38/JNK activations, ATF2/c-Jun translocation, and PAI-1 promoter activity. '), ('9339', 'JUN_JNK', '', 'JUN', 'JNK', '17262823', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'This study shows that pretreatment with low NO can protect osteoblasts from high NO-induced cell insults via JNK/c-Jun-mediated regulation of Bcl-2 gene expression and protein translocation.. '), ('9340', 'STAT3_JAK2', '', 'STAT3', 'JAK2', '26921179', '10', '', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'We demonstrate that PA suppressed the JAK2/STAT3 pathway by dephosphorylation of JAK2 (Y1007/1008) and STAT3 (Y705), and thus blocked the translocation of STAT3 into the nucleus.     ///    Sodium orthovanadate suppresses palmitate-induced cardiomyocyte apoptosis by regulation of the JAK2/STAT3 signaling pathway..     ///    \"Collectively, our data suggested a novel mechanism that the inhibition of JAK2/STAT3 activation was responsible for palmitic lipotoxicity and SOV may act as a potential therapeutic agent by targeting JAK2/STAT3 in lipotoxic cardiomyopathy treatment. \"    ///    \"Here, the role of JAK2/STAT3 in PA-induced cytotoxicity was investigated in cardiomyocytes. \"    ///    \"Sodium orthovanadate (SOV), a protein tyrosine phosphatase inhibitor, obviously inhibited PA-induced apoptosis by restoring JAK2/STAT3 pathways. \"'), ('9341', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '23320232', '10', 'melanoma;fibrous histiocytoma;histiocytoma\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'So far three translocations have been reported to arise in angiomatoid fibrous histiocytoma: FUS-ATF1, EWSR1-CREB1, or EWSR1-ATF1. '), ('9342', 'HSP70_HSP40', '', 'HSP70', 'HSP40', '15389841', '10', '', '', '', '', '', '', '', '', '', 'For the azide-exposed native cell line, addition of the antioxidant trolox to the medium abrogated both Hsp70/Hsp40 translocation and upregulation. '), ('9343', 'P300_NUT', 't(15;19)(q13;p13) / ', 'P300', 'NUT', '20676058', '10', '', '', '', '', '', '', '', '', '', 'In this study, we show that, after binding to acetylated chromatin through BRD4 bromodomains, the NUT moiety of the fusion protein strongly interacts with and recruits p300, stimulates its catalytic activity, initiating cycles of BRD4-NUT/p300 recruitment and creating transcriptionally inactive hyperacetylated chromatin domains. '), ('9344', 'MIR29b_HSA', '', 'MIR29b', 'HSA', '18812439', '10', 'breast cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'Nine miRNAs of hsa-miR-21, hsa-miR-365, hsa-miR-181b, hsa-let-7f, hsa-miR-155, hsa-miR-29b, hsa-miR-181d, hsa-miR-98, and hsa-miR-29c were observed to be up-regulated greater than twofold in BC compared with NAT, whereas seven miRNAs of hsa-miR-497, hsa-miR-31, hsa-miR-355, hsa-miR-320, rno-mir-140, hsa-miR-127 and hsa-miR-30a-3p were observed to be down-regulated greater than twofold. '), ('9345', 'CREB_ATF', '', 'CREB', 'ATF', '19712974', '10', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'PACAP modulated the phosphorylation of ERK1/2 (pERK1/2) and CREB/ATF-1 (pCREB/ATF-1) concomitant with a translocation of PKA to the nucleus. '), ('9346', 'P15_P13', '', 'P15', 'P13', '3168312', '10', '', '', '', '', '', '', '', '', '', 'A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported.    ///     A case of duplication of segment p13-p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. '), ('9347', 'P100_NFKB2', '', 'P100', 'NFKB2', '24888602', '10', 'common variable immunodeficiency', '', '', 'Oncogene', '', '', '', '', '', 'Consequently, NFKB2/p100 processing and nuclear translocation were abrogated.     ///    \"Using flow cytometry, we further demonstrated that there was a reduction in B cells (CD19+), switched memory B cells (CD27+IgD-) and T follicular helper (Tfh) cells (both CD4+CXCR5+ and CD4+CXCR5Hi) in a CVID patient with NFKB2/p100?19, compared to healthy controls. \"'), ('9348', 'PVT1_NDRG1', '', 'PVT1', 'NDRG1', '22832581', '10', 'medulloblastoma\r\r', '', '', '', '', '', '', '', '', 'Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. '), ('9349', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23317202', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The highest relapse-free survival was documented with ETV6-RUNX1 (14.2 months) followed closely by those cases in which no gene was detected (13.100).     ///    \"19), ETV6-RUNX1 (t 12. \"'), ('9350', 'EIF4E_BP1', '', 'EIF4E', 'BP1', '16763222', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Sequentially, translocated Mnk1 increases eIF4E-BP1 phosphorylation. '), ('9351', 'TEL2_ETV7', '', 'TEL2', 'ETV7', '15743832', '10', 'leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', ' The human ETS family gene TEL2/ETV7 is highly homologous to TEL1/ETV6, a frequent target of chromosome translocations in human leukemia and specific solid tumors. '), ('9352', 'CCNE_CDK2', '', 'CCNE', 'CDK2', '25228008', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Expression of p27, a cyclin-dependent kinase (CDK) inhibitor whose major target is the cyclin E/CDK2 complex, was found to increase during this process, and this increase was accompanied by translocation of p27 from the nucleus to the cytoplasm. '), ('9353', 'P65_P50', '', 'P65', 'P50', '15730645', '10', '', '', '', '', '', '', '', '', '', '[Effect of burn serum on the nuclear translocation of monocytic NF-kappaB p50/p65]..     ///    \" To investigate the effects of burn serum on nuclear translocation of monocytic NF-kappaB heterodimers p50/p65 and the degradation of inhibiting kappaB (IkappaBalpha), so as to further explore the role of burn serum on the activation of monocytes. \"'), ('9354', 'P53_ASPP2', '', 'P53', 'ASPP2', '25980493', '10', 'hepatocellular carcinoma\r\r', '', '', '', '', '', '', '', '', 'The in vivo assay demonstrated that EGFR/SOS1-promoted growth of nuclear p-AKT+, Bcl-2+ cells results in the resistance of hepatoma cells to ASPP2-p53 complex-induced apoptosis and that blocking nuclear translocation of EGFR dramatically improves and enhances the pro-apoptotic function of ASPP2.     ///    Nuclear EGFR impairs ASPP2-p53 complex-induced apoptosis by inducing SOS1 expression in hepatocellular carcinoma.. '), ('9355', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '23535644', '10', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The presence and expression of TMPRSS2/ERG in prostate stem cells would provide ERG-driven survival advantages, allowing maintenance of this mutated genotype..     ///    Monoallelic expression of TMPRSS2/ERG in prostate cancer stem cells.. '), ('9356', 'SAPK_JNK', '', 'SAPK', 'JNK', '16810318', '10', '', '', '', '', '', '', '', '', '', 'This released RASSF1C translocates to cytoplasmic microtubules and participates in the activation of SAPK/JNK.     ///    Our data define a novel mechanism by which the Daxx-RASSF1C complex in PML-NBs couples nuclear DNA damage to the cytoplasmic SAPK/JNK signaling pathway..     ///    \"However, it is unclear how the signal arising in the nucleus owing to DNA damage is transmitted to SAPK/JNK in the cytoplasm. \"    ///    Release of RASSF1C from the nucleus by Daxx degradation links DNA damage and SAPK/JNK activation..     ///    \" Stress-activated protein kinase/c-Jun N-terminal kinase (SAPK/JNK) responds to a variety of stress stimuli and controls cell fates such as cell cycle entrance, apoptosis and senescence. \"    ///    Stimuli such as ultraviolet irradiation and chemical reagents that damage genomic DNA induce the activation of the SAPK/JNK signaling pathway.     ///    \"Here, we report that the nuclear components Daxx and Ras-association domain family 1C (RASSF1C) link DNA damage to SAPK/JNK activation in HeLa cells. \"'), ('9357', 'IDH2_IDH1', '', 'IDH2', 'IDH1', '21889780', '10', 'astrocytoma;neurofibroma;tuberous sclerosis', '', '', 'Oncogene', '', '', '', '', '', 'Finally, OMICS have identified recurrent IDH1/IDH2 mutations with prognostic significance in glial tumors and five single nucleotide polymorphisms associated with susceptibility to gliomas (e.g. '), ('9358', 'tubulin_CX43', '', 'tubulin', 'CX43', '23329179', '10', 'multiple myeloma\r\r', '', '', '', '', '', '', '', '', 'Consistently, together with microtubule instability, a mechanism classically associated with cell death in response to griseofulvin, we observed a disruption of connexin 43/tubulin association concomitant of an enhanced translocation of connexin 43, or an immunoreactive fragment of the protein, from the cytoplasm to the nucleus. '), ('9359', 'ETS2_ERG', '', 'ETS2', 'ERG', '22570408', '10', '', '', '', '', '', '', '', '', '', 'In one of the acute myeloid leukaemia samples, FusionAnalyser identified a novel, cryptic, in-frame ETS2-ERG fusion. '), ('9360', 'P65_P50', '', 'P65', 'P50', '23671281', '10', '', '', '', '', '', '', '', '', '', 'Consequently, stabilization of I?B? arrests p65/p50 nuclear translocation. '), ('9361', 'NRF2_KEAP1', '', 'NRF2', 'KEAP1', '20153624', '10', 'age-related macular degeneration\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Pretreatment with ?-tocopherol activated the Keap1/Nrf2 pathway by increasing Nrf2 expression and inducing its translocation to the nucleus.     ///    \"Acrolein, a major component of cigarette smoke and also a product of lipid peroxidation, at 75 ?mol/L over 24 h, caused significant loss of ARPE-19 cell viability, increased oxidative damage, decreased antioxidant defense, inactivation of the Keap1/Nrf2 pathway, and mitochondrial dysfunction. \"'), ('9362', 'NPM_ALK', '', 'NPM', 'ALK', '26750252', '10', 'anaplastic large cell lymphoma;non small cell lung cancer;lung cancer;neuroblastoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Expression of ALK in normal human tissues is only found in a subset of neural cells, however it is involved in the genesis of several cancers through genetic aberrations involving translocation of the kinase domain with multiple fusion partners (e.g., NPM-ALK in anaplastic large cell lymphoma ALCL or EML4-ALK in non-small cell lung cancer) or activating mutations in the full-length receptor resulting in ligand-independent constitutive activation (e.g., neuroblastoma). '), ('9363', 'BCR_ABL1', '', 'BCR', 'ABL1', '11256626', '10', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We demonstrate that suitable masked antisense RNA can discriminate between the two forms of BCR-ABL mRNA that result from the Philadelphia chromosomal translocations, as well as discriminating the normal BCR and ABL mRNA.. '), ('9364', 'EML4_ALK', '', 'EML4', 'ALK', '21420271', '10', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'New molecular targets are on investigation, such as EML4-ALK translocation. '), ('9365', 'DR5_DR4', '', 'DR5', 'DR4', '23258590', '10', '', '', '', '', '', '', '', '', '', 'Compared with parental TRAIL-sensitive H460 cells, H460R cells showed a decreased TRAIL-induced translocation of DR4/DR5 into lipid rafts. '), ('9366', 'MYC_IGH', '', 'MYC', 'IGH', '21135131', '10', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Serine 3 is a novel phospho-acceptor which, when mutated to alanine, leads to increased class switching and c-myc/IgH translocations without affecting AID levels or catalytic activity.     ///    Amino-terminal phosphorylation of activation-induced cytidine deaminase suppresses c-myc/IgH translocation.. '), ('9367', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '23774173', '10', 'liposarcoma;gastrointestinal stromal tumor;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A molecular analysis was performed for all suspicions of sarcomas with specific genetic lesions [mutations of KIT/PDGFRA in gastrointestinal stromal tumors (GISTs), reciprocal translocation, or amplification of MDM2 in atypical lipomatous tumors, well-differentiated liposarcoma-dedifferentiated liposarcoma (ALT/WDLPS-DDLPS)]. '), ('9368', 'GSTT1_GSTM1', '', 'GSTT1', 'GSTM1', '22852846', '10', '', 'PCR', '', '', '', '', '', '', '', 'Distributions for GSTM1/T1, GSTM1/GSTT1*0, GSTM1*0/T1, and GSTM1*0/GSTT1*0 genotypes were 35.4, 22.2, 25.0, and 17.4%, respectively. '), ('9369', 'TTC40_MSI2', '', 'TTC40', 'MSI2', '25058373', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A novel TTC40-MSI2 fusion in de novo acute myeloid leukemia with an unbalanced 10;17 translocation.. '), ('9370', 'IL27_IFN', '', 'IL27', 'IFN', '20817868', '10', 'asthma', '', '', '', '', '', '', '', '', 'Importantly, integrated signaling by IL-27/IFN-? inhibits glucocorticoid-induced translocation of the glucocorticoid receptor to the nucleus of macrophages.     ///    IL-27/IFN-? induce MyD88-dependent steroid-resistant airway hyperresponsiveness by inhibiting glucocorticoid signaling in macrophages.. '), ('9371', 'GCLM_GCLC', '', 'GCLM', 'GCLC', '25881548', '10', '', '', '', '', '', '', '', '', '', 'Quercetin induced the nuclear translocation of Nrf2, along with the increased expression of the antioxidant responsive element (ARE)-dependent genes like catalytic or modify subunit of glutamate-cysteine ligase (GCLC/GCLM), and heme oxygenase-1 (HO-1). '), ('9372', 'TRAF6_RANK', '', 'TRAF6', 'RANK', '12938156', '10', '', '', '', '', '', '', '', '', '', 'RANKL stimulation of RANK/TRAF6 signaling increases nuclear factor-kappaB (NFkappaB) nuclear translocation and activates the Akt/PKB cell survival pathway. '), ('9373', 'EGFR_EGF', '', 'EGFR', 'EGF', '22037462', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Conversely, overexpression of APPL1 decelerates EGFR internalization and translocation of EGF/EGFR to the perinuclear region.     ///    APPL1 depletion accelerates EGFR internalization and movement of EGF/EGFR from cell surface to the perinuclear region in response to EGF treatment. '), ('9374', 'IGL_IGH', '', 'IGL', 'IGH', '19587764', '10', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Moreover, Igl and Igh breaks are frequently joined to form translocations, a phenomenon associated with specific Igh-Igl co-localization. '), ('9375', 'SSR_EST', '', 'SSR', 'EST', '16268789', '10', 'pituitary tumor', 'PCR', '', '', '', '', '', '', '', 'After bioinformatical mining, a total of 3,018 EST derived SSRs (EST-SSRs) were identified for 2,335 SSR containing ESTs (SSR-ESTs).     ///    \"This study provides a large body of information on EST-SSRs that can be useful for the development of polymorphic markers, gene mapping, and comparative genome analysis. \"    ///    Simulation analysis suggests that a majority of these EST-SSRs have sufficient flanking sequences for polymerase chain reaction (PCR) primer design. '), ('9376', 'TEL1_ETV6', '', 'TEL1', 'ETV6', '15743832', '10', 'leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', ' The human ETS family gene TEL2/ETV7 is highly homologous to TEL1/ETV6, a frequent target of chromosome translocations in human leukemia and specific solid tumors. '), ('9377', 'EML4_ALK', '', 'EML4', 'ALK', '24102046', '10', 'inflammatory breast carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'One of 25 patients was identified as having an EML4-ALK translocation. '), ('9378', 'P27_KIP1', '', 'P27', 'KIP1', '10840458', '10', 'prostate cancer;adenocarcinoma\r\r', 'PCR', '', '', '', '', '', '', '', ' Our laboratory has recently identified a 1 to 2 Mb homozygous deletion at 12p12-13 in a prostate cancer specimen and determined that the p27/kip1 gene lies within the deletion.     ///    \"While immunohistochemical analysis has implicated p27/kip1 in prostate carcinoma, no previous studies had identified genetic abnormalities at this locus. \"    ///    \"In addition, the strong association between LOH and distant metastasis raises the possibility that mutational inactivation of a gene at 12p12-13, possibly p27/kip1, plays a pivotal role in the development of metastatic disease.. \"'), ('9379', 'P97_VCP', '', 'P97', 'VCP', '26463447', '10', '', '', '', '', '', '', '', '', '', 'Subsequent to CRL-dependent I?B? ubiquitination functional p97/VCP is essentially required for efficient liberation of (phosphorylated) RelA from I?B?, preceding p97/VCP-promoted timely and efficient degradation of I?B? as well as simultaneous NF-?B/RelA nuclear translocation.     ///    \"While RelA phosphorylation was observed to mediate NF-?B activation independent of Ub-proteasome-pathway (UPP)-dependent turnover of I?B? in some studies, a strict requirement of the p97/VCP ATPase for both, I?B? degradation and NF-?B activation, was reported in others. \"    ///    \"Collectively, our data add new facets to the knowledge about maintenance of I?B? and RelA expression, likely depending on p97/VCP-supported scheduled basal NF-?B activity, and the mechanism of TNF-induced NF-?B activation. \"    ///    p97/VCP promotes Cullin-RING-ubiquitin-ligase/proteasome-dependent degradation of I?B? and the preceding liberation of RelA from ubiquitinated I?B?.. '), ('9380', 'TCR_CD3', '', 'TCR', 'CD3', '11581171', '10', '', '', '', '', '', '', '', '', '', 'Further, nuclear localization of Itk and TCR-CD3-mediated IL-2 production were significantly down-regulated following expression of the Rch1alpha-P242A mutant, implicating a role for Rch1alpha in the nuclear translocation of Itk..     ///    \"TCR-CD3 stimulation of Jurkat T cells resulted in increased Itk/Rch1alpha complex formation, recruitment of karyopherin beta to the protein complex and Rch1alpha tyrosine phosphorylation. \"    ///    We observed constitutive nuclear localization of Itk that was up-regulated following either TCR-CD3 stimulation or over-expression of wild-type Rch1alpha in T cells. '), ('9381', 'BECN1_BCL2', '', 'BECN1', 'BCL2', '24178442', '10', 'parkinson disease', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Furthermore, we showed that SNCA binds to both cytosolic and nuclear high mobility group box 1 (HMGB1), impairs the cytosolic translocation of HMGB1, blocks HMGB1-BECN1 binding, and strengthens BECN1-BCL2 binding. '), ('9382', 'BRD4_NUT', '', 'BRD4', 'NUT', '24518598', '10', '', '', 'Kinase', '', '', '', '', '', '', 'In vitro anthracyclines, topoisomerase inhibitors, and microtubule poisons were among the most cytotoxic drug classes for NMC cells, while efficacy of the bromodomain inhibitor JQ1 varied considerably between lines carrying different BRD4 (bromodomain-containing protein 4)-NUT (nuclear protein in testis) translocations. '), ('9383', 'TLR4_MD2', '', 'TLR4', 'MD2', '23070967', '10', 'HIV infection', '', '', '', '', '', '', '', '', 'Our results could imply that, in some patients, immune activation is triggered by microbial translocation, in some by cell death and in some by HMGB1 in complex with bacterial products through activation of the MD2/TLR4-pathway..     ///    \"Furthermore, plasma levels of HMGB1 and MD2 were correlated directly within the HIV-infected cohort (r?=?0.89, P?<?0.001) and the IBD-cohort (r?=?0.85, P?<?0.001), implying HMGB1 signalling through the MD2/TLR4-pathway. \"'), ('9384', 'P27_KIP1', '', 'P27', 'KIP1', '20224992', '10', '', '', '', '', '', '', '', '', '', 'WCTE treatment to PC-3 cells resulted in (1) induction of WAF1/p21 and KIP1/p27, (2) decrease in cyclins D1, D2 and E, (3) decrease in cyclin-dependent kinase (cdk) 2, 4 and 6, (4) induction of Bax and down-regulation of Bcl-2, (5) decrease in procaspase-3, -8, (6) inhibition of nuclear translocation and phosphorylation of NF-kappaB and activation of IKKalpha, and (7) inhibition of phosphorylation and degradation of IkappaBalpha. '), ('9385', 'IGH_BCL2', '', 'IGH', 'BCL2', '17138820', '10', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'However, CD10-MUM1+ FLs were encountered frequently in the elderly compared with CD10+MUM1- typical FLs (67.0 versus 58.7 years, P < .01), showed high grade (grade 3A or 3B) morphology (91% versus 17%, P < .001), diffuse proliferation (59% vs 19%, P < .001), and lacked BCL2/IGH translocation (5% versus 92.5%, P < .001), which is the most characteristic aberration in FL, and 88% showed BCL6 gene abnormalities (translocation or amplification). '), ('9386', 'SF1_AD4BP', '', 'SF1', 'AD4BP', '14555713', '10', '', '', '', '', '', 'Receptor', '', '', '', 'However TRRAP was translocated into the nucleus in the presence of GCN5, and together with GCN5 colocalized with Ad4BP/SF-1 in the same foci when PKA was activated.     ///    A luciferase assay also indicated that these two cofactors enhanced Ad4BP/SF-1 transactivation.Dosage-sensitive sex reversal (DAX-1) interacts with and thus inhibits Ad4BP/SF-1 transactivation.     ///    \"They colocalized extensively, suggestive of binding, and Ad4BP/SF-1 was sharply immobilized when DAX-1 was coexpressed, whereas PKA could maintain mobility, as evidenced by Fluorescence Recovery After Photobleaching showing that Ad4BP/SF-1 mobility recovered after forskolin treatment.Therefore, the PKA signal pathway may modify the interaction between Ad4BP/SF-1 and its activators and repressor (GCN5 and TRRAP are integrated, whereas DAX-1 is disassociated), and thus stimulate the Ad4BP/SF-1 transactivation.. \"    ///    \"In KGN cells, forskolin (a PKA stimulator) could reorganize wild-type Ad4BP/SF-1, but not mutant Ad4BP/SF-1 (G35E), from a diffuse distribution pattern to foci formation in the nucleus. \"    ///     The mechanism through which protein kinase A (PKA) potentiates the transactivation ability of adrenal 4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) is currently unclear. '), ('9387', 'PGS_PGD', '', 'PGS', 'PGD', '20207582', '10', '', '', '', '', '', '', '', '', '', 'Up to 73 preimplantation genetic diagnosis/preimplantation genetic screening (PGD/PGS) cycles were analysed in this retrospective study including 17 cycles of translocation carriers and 56 PGS cycles.     ///    \"Therefore, in the context of a PGD/PGS programme, the PN pattern cannot be used as a tool to predict embryo quality or chromosome status.. \"'), ('9388', 'SREBP_SCAP', '', 'SREBP', 'SCAP', '24068000', '10', 'retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'Results showed that inflammation increased lipid accumulation in aortas of ApoE KO mice and in VSMCs, which were correlated with increased expressions of LDLr, sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP), and SREBP-2 as well as with enhanced translocation of SCAP/SREBP-2 complex from the endoplasmic reticulum (ER) to the Golgi. '), ('9389', 'AE3_AE1', '', 'AE3', 'AE1', '19938705', '10', 'renal cell carcinoma', '', '', '', '', '', '', '', '', ' The paper describes a rare case of a renal composite tumor in a two-year-old girl who has nephroblastoma and renal-cell carcinoma of alveolar-tubular structure with focal expression of pancytokeratin AE1/AE3, cytokeratins 7 and 20, EMA, vimentin, CD10, MELAN A, p 504 S, E-cadherin, most likely, carcinoma with Xp.11.2 translocation.. '), ('9390', 'NFIB_MYB', '', 'NFIB', 'MYB', '23685749', '10', 'adenoid cystic carcinoma;salivary gland cancer\r\r', '', '', '', '', '', '', 'KB', '', 'We observed MYB-NFIB translocations and somatic mutations in MYB-associated genes, solidifying the role of these aberrations as critical events in ACC. '), ('9391', 'PTD_MLL', '', 'PTD', 'MLL', '21325596', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Rare mutations of NRAS, FLT3-ITD, MLL-PTD, ERG amplification, and ZFP36L2-PRDM16 translocation, but no TP53, TET2, CBL, NPM1, and CEBP? mutations were found. '), ('9392', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '23717811', '10', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Two-thirds of pilocytic astrocytomas, a low-grade pediatric glioma, contain a translocation within the BRAF gene called KIAA1549:BRAF that causes an overactivation of the MEK/MAPK signaling cascade. '), ('9393', 'RARA_PML', '', 'RARA', 'PML', '8470912', '10', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In many APL patients, translocation between RAR alpha gene and an oncogenic gene, PML, can be detected, although the roles of their fusion products (RAR alpha-PML and PML-RAR alpha) in APL induction have not been understood. '), ('9394', 'MAPK14_JNK', '', 'MAPK14', 'JNK', '24833292', '10', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'We also found that MWEs initially activate JNK/p38 and p53, which in turn activate both Fas-ligand and mitochondria pathways, thereby causing mitochondria translocation of Bax and the reduction of Bcl-2 that trigger the cleavage of procaspases, finally resulting in apoptosis of VSMCs. '), ('9395', 'RET_PTC', '', 'RET', 'PTC', '24522987', '10', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Tests included an RNA-based gene expression classifier, a DNA-based somatic mutation panel, BRAF, NRAS, and/or RET/PTC translocation. '), ('9396', 'MRE11_ATM', '', 'MRE11', 'ATM', '19881536', '10', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'This gain of function inactivates Mre11/ATM-dependent DNA damage responses, leading to chromosomal translocation and defective G(2)/M checkpoint. '), ('9397', 'TEL_AML1', '', 'TEL', 'AML1', '24753091', '10', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Both the TEL-AML1 translocation and high-hyperdiploidy were associated with younger age at diagnosis (24.4 months, P?=?2.0 x 10(-4) and 12.4 months, P?=?0.011, respectively), while CDKN2A and IKZF1 deletions were associated with older age at diagnosis (19.7 months, P?=?7.0 x 10(-4) and 18.1 months, P?=?0.012, respectively). '), ('9398', 'SOS1_EGFR', '', 'SOS1', 'EGFR', '25980493', '10', 'hepatocellular carcinoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'The in vivo assay demonstrated that EGFR/SOS1-promoted growth of nuclear p-AKT+, Bcl-2+ cells results in the resistance of hepatoma cells to ASPP2-p53 complex-induced apoptosis and that blocking nuclear translocation of EGFR dramatically improves and enhances the pro-apoptotic function of ASPP2. '), ('9399', 'RET_PTC3', '', 'RET', 'PTC3', '26259532', '10', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In tumorous samples, 86 BRAF (44.2%), 5 NRAS (3.1%), 2 HRAS (1.0%) and 1 KRAS (0.5%) mutations were found, as well as 9 RET/PTC1 (4.6%) and 1 RET/PTC3 (0.5%) translocations. '), ('9400', 'P50_NFKB1', '', 'P50', 'NFKB1', '18948740', '10', 'prostate cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Delphinidin treatment to cells resulted in a dose-dependent decrease in (i) phosphorylation of IKKgamma (NEMO), (ii) phosphorylation of NFkappaB inhibitory protein IkappaBalpha, (iii) phosphorylation of NFkappaB/p65 at Ser(536) and NFkappaB/p50 at Ser529, (iv) NFkappaB/p65 nuclear translocation, and (v) NFkappaB DNA binding activity. '), ('9401', 'RXRA_NUR77', '', 'RXRA', 'NUR77', '17434920', '10', 'prostate cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', '', '', 'We have recently described IGFBP-3-induced mitochondrial translocation of the nuclear receptors RXRalpha/Nur77 in the induction of prostate cancer (CaP) cell apoptosis. '), ('9402', 'P65_NFKB1', '', 'P65', 'NFKB1', '20462523', '10', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The flavone also inhibited p65-NF-kappaB translocation into the nucleus by I kappaB alpha degradation. '), ('9403', 'GLUT4_CD36', '', 'GLUT4', 'CD36', '24895286', '10', '', '', '', '', '', '', '', '', '', 'In contrast, AMPK activators stimulated GLUT4/CD36 translocation as well as glucose/LCFA uptake.     ///    \"In conclusion, Ca(2+) signaling shows no involvement in AMPK-induced GLUT4/CD36 translocation and substrate uptake but elicits transporter translocation via a separate pathway requiring CaMKK?/CaMKs. \"'), ('9404', 'NOD2_ATG16L1', '', 'NOD2', 'ATG16L1', '23376290', '10', '', '', '', '', '', '', '', '', '', 'The observation of bacterial DNA translocation in patients with CD led us to hypothesise that this process may be facilitated in patients with NOD2/ATG16L1-variant genotypes, affecting the efficacy of anti-tumour necrosis factor (TNF) therapies. '), ('9405', 'VKORC1_CYP2C9', '', 'VKORC1', 'CYP2C9', '23563037', '10', '', 'PCR', '', '', '', '', '', '', '', 'The variation in the frequency of combined CYP2C9/ VKORC1 genotypes revealed plausible difference in warfarin response among SI and NI. '), ('9406', 'WAF1_CIP1', '', 'WAF1', 'CIP1', '24377315', '10', '', '', '', '', '', '', '', '', '', 'Dyrk1B activation that is induced by microtubule damage triggers microtubule stabilization and promotes the mitochondrial translocation of p21(Cip1/waf1) (referred to as p21 hereafter) to suppress apoptosis. '), ('9407', 'P65_NFKB1', '', 'P65', 'NFKB1', '18948740', '10', 'prostate cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Delphinidin treatment to cells resulted in a dose-dependent decrease in (i) phosphorylation of IKKgamma (NEMO), (ii) phosphorylation of NFkappaB inhibitory protein IkappaBalpha, (iii) phosphorylation of NFkappaB/p65 at Ser(536) and NFkappaB/p50 at Ser529, (iv) NFkappaB/p65 nuclear translocation, and (v) NFkappaB DNA binding activity. '), ('9408', 'YAP_TAZ', '', 'YAP', 'TAZ', '25381822', '10', 'lung carcinoma', '', '', '', '', '', '', '', '', 'The trigger of cancer progression caused by AMOT loss was transduced by decreased cytoplasmic sequestration and increased nuclear translocation of oncogenic co-activators YAP/TAZ, leading to increased expression of the growth factor, Cyr61.     ///    Tumor promotion by AMOT knockdown was reversed when YAP/TAZ or Cyr61 was absent.     ///    Angiomotin decreases lung cancer progression by sequestering oncogenic YAP/TAZ and decreasing Cyr61 expression..     ///    \"Angiomotin (AMOT), a scaffold protein, has been shown to interact with oncogenic Yes-associated protein/transcriptional co-activator with a PDZ-binding motif (YAP/TAZ) proteins, suggesting a potential role in tumor progression. \"'), ('9409', 'SSX_SS18', '', 'SSX', 'SS18', '24975049', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Synovial sarcoma (SS) is a malignant soft-tissue tumor characterized by the recurrent chromosomal translocation SS18-SSX.     ///    \"SS18-SSX directs the VEGF signal outcome from endothelial differentiation to spheroid growth, and VEGF and CXC receptor 4 are critical therapeutic targets for SS.. \"    ///    Deflection of vascular endothelial growth factor action by SS18-SSX and composite vascular endothelial growth factor- and chemokine (C-X-C motif) receptor 4-targeted therapy in synovial sarcoma..     ///    \"Here, we show that SS18-SSX directs the VEGF signal outcome to cellular growth from differentiation. \"    ///    \"SS18-SSX knockdown altered the VEGF signaling outcome, from proliferation to tubular differentiation, without affecting VEGF secretion, suggesting that VEGF signaling promoted cell growth in the presence of SS18-SSX. \"'), ('9410', 'EML4_ALK', '', 'EML4', 'ALK', '24853389', '10', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The discovery of the echinoderm microtubule-associated protein like 4-anaplastic lymphoma kinase (EML4-ALK) translocation as an oncogenic driver has led to the development of novel therapies with activity in vitro and in the clinic. '), ('9411', 'ZONAB_ZO1', '', 'ZONAB', 'ZO1', '24771004', '10', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Incubation with ICI 182,780 (Fulvestrant), an ER antagonist, precluded the effects of E2 on c-Src phosphorylation, p-Src/ZO-1 complex formation, ZO-1/ZONAB nuclear translocation, and migration of MCF-7 cells. '), ('9412', 'LMBRD1_CHD6', '', 'LMBRD1', 'CHD6', '24844365', '10', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'A novel translocation (6;20)(q13;q12) in acute myeloid leukemia likely results in LMBRD1-CHD6 fusion.. '), ('9413', 'MEK_ERK', '', 'MEK', 'ERK', '16908594', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The data showed that THC down-regulated Raf-1/mitogen-activated protein kinase/ERK kinase (MEK)/ERK/RSK pathway leading to translocation of Bad to mitochondria. '), ('9414', 'MAPK3_P42', '', 'MAPK3', 'P42', '16467130', '10', '', '', 'Kinase', '', '', '', '', '', '', 'On glucose treatment, both p42/p44 mitogen-activated protein (MAP) kinases and the downstream signaling intermediate NF-kappaB were phosphorylated and translocated to the nucleus. '), ('9415', 'P300_CBP', '', 'P300', 'CBP', '14960713', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Lysine acetyltransferases form different groups, three of which are Gcn5/PCAF, p300/CBP and MYST proteins. '), ('9416', 'RANKL_OPG', '', 'RANKL', 'OPG', '15930486', '10', 'rheumatoid arthritis', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'These beneficial effects may be due, in part, to increased activity of antioxidant enzymes, decreased expression of RANKL, and increased expression of OPG in FO fed mice thereby altering the RANKL/OPG ratio. '), ('9417', 'KIAA1549_BRAF', '', 'KIAA1549', 'BRAF', '25165274', '10', 'brain cancer', 'FISH;PCR;RT-PCR ', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The KIAA1549:BRAF fusion (K-B fusion) gene has been considered a driver genetic events and a useful diagnostic marker in pilocytic astrocytomas (PA). '), ('9418', 'PVT1_MYC', '', 'PVT1', 'MYC', '22832581', '10', 'medulloblastoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', 'Seq', 'Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. '), ('9419', 'PCAF_GCN5', '', 'PCAF', 'GCN5', '14960713', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Lysine acetyltransferases form different groups, three of which are Gcn5/PCAF, p300/CBP and MYST proteins. '), ('9420', 'ETO_AML1', '', 'ETO', 'AML1', '18073335', '10', 'leukemia\r\r', '', '', '', '', '', '', '', '', ' The chromosomal translocation products AML1-ETO and PML-RARalpha contribute to the pathogenesis of leukemias.     ///    \"Here, we demonstrate that both AML1-ETO and PML-RARalpha are degraded by the ubiquitin-proteasome system and that their turnover critically depends on the E2-conjugase UbcH8 and the E3-ligase SIAH-1. \"    ///    \"Contrary to its role in HDAC2 degradation, the E3-ligase RLIM does not target AML1-ETO and PML-RARalpha for ubiquitin-dependent elimination. \"    ///    Mechanism for ubiquitylation of the leukemia fusion proteins AML1-ETO and PML-RARalpha.. '), ('9421', 'WAF1_CIP1', '', 'WAF1', 'CIP1', '17339425', '10', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Lack of functional T beta RII was correlated with the lack of TGF-beta1-induced nuclear translocation of phospho-Smad3 and phospho-Smad2, the lack of nuclear expression of p21(Cip1/WAF1), and the down-regulation of c-Myc in DB cells. '), ('9422', 'SYT_SSX1', '', 'SYT', 'SSX1', '20625862', '10', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Molecular analyses revealed typical t(X;18) translocation of the SYT gene and a SYT/SSX1 fusion type. '), ('9423', 'SIAH1_GAPDH', '', 'SIAH1', 'GAPDH', '18552833', '10', '', '', '', '', '', '', '', '', '', 'The GAPDH-Siah1 protein complex, in turn, translocates to the nucleus and mediates cell death.     ///    these processes are blocked by procedures that interfere with GAPDH-Siah1 binding. '), ('9424', 'DR4_DR3', '', 'DR4', 'DR3', '17373940', '10', 'diabetes;malnutrition', 'PCR', '', '', '', '', '', '', '', 'Comparison of the A and G alleles with HLA DR3-DR4 did not result in any significant P-values. '), ('9425', 'MAF_MAFB', '', 'MAF', 'MAFB', '19446321', '10', 'multiple myeloma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Surprisingly, DEPTOR is highly overexpressed in a subset of multiple myelomas harboring cyclin D1/D3 or c-MAF/MAFB translocations. '), ('9426', 'IL1R_MYD88', '', 'IL1R', 'MYD88', '20197549', '10', 'bacterial pneumonia;HIV infection', '', '', 'Oncogene', '', '', '', '', '', 'Comparing human U937 macrophages with HIV(+) U1 macrophages (HIV-infected U937 subclone), the current study shows that HIV infection is associated with impaired macrophage TLR4-mediated signaling, specifically targeting the MyD88-dependent TLR4-mediated signaling pathway (reduced MyD88-interleukin-1 receptor-associated kinase [IRAK] interaction, IRAK phosphorylation, nuclear factor [NF]-kappaB nuclear translocation, and TNFalpha release) while preserving the MyD88-independent TLR4-mediated signaling pathway (preserved STAT1 phosphorylation, interferon regulatory factor [IRF] nuclear translocation, and interleukin-10 [IL-10] and RANTES release). '), ('9427', 'CCNB1_CDC2', '', 'CCNB1', 'CDC2', '12447691', '10', '', '', 'Kinase', '', '', '', '', '', '', 'Phosphorylation of four serine residues within cyclin B1 promotes the rapid nuclear translocation of Cdc2/cyclin B1 at the G(2)/M transition.     ///     The cyclin-dependent kinase 1 (Cdc2)/cyclin B1 complex performs cardinal roles for eukaryotic mitotic progression. '), ('9428', 'P10_NTF2', '', 'P10', 'NTF2', '9843686', '10', '', '', '', '', '', '', '', '', '', ' The cytosolic nuclear transport factor p10/NTF2 is required for the translocation of karyophilic molecules through nuclear pores [1] [2] [3], and the small GTPase Ran is a key regulator of protein transport between the nucleus and cytoplasm [4] [5].     ///    It has been reported that p10/NTF2 interacts directly and specifically with Ran-GDP but not with Ran-GTP [6].     ///    \"Furthermore, the activities of wild-type p10/NTF2 and the mutant forms M84T and D92G in an assay of nuclear protein import in a digitonin-permeabilized cell-free system correlated with their level of inhibition of the dissociation of nucleotide from Ran-GDP. \"    ///    \"These results suggest that p10/NTF2 acts as a GDP dissociation inhibitor for Ran (Ran-GDI), thereby coordinating the Ran-dependent reactions that underlie nuclear protein import.. \"    ///    \"The precise role(s) of p10/NTF2 in the Ran GTP/GDP cycle are thus far unclear, however. \"    ///    \"In contrast, the dissociation of [35S]GTP gamma S from Ran, which was also catalyzed by RCC1, was not affected by p10/NTF2. \"    ///    Nuclear transport factor p10/NTF2 functions as a Ran-GDP dissociation inhibitor (Ran-GDI)..     ///    \"In this study, we show that mammalian p10/NTF2 dramatically inhibits the dissociation of [3H]GDP from Ran and the binding of [35S]GTPgammaS to Ran following the dissociation of non-radioactive GDP by RCC1, the only known mammalian guanine nucleotide exchange factor for Ran (Ran-GEF) [7]. \"'), ('9429', 'IL4_IL2', '', 'IL4', 'IL2', '18776133', '10', '', '', '', '', '', '', '', '', '', 'These data indicate that combination IL-2/IL-4 inhibits GCRalpha nuclear translocation in human T cells, and this effect is reversed by IFN-gamma via inhibition of p38 MAPK activation..     ///    \"Importantly, addition of IFN-gamma to the IL-2/IL-4 combination restored GCRalpha nuclear translocation in response to DEX. \"    ///    \"In the current study, we found that treatment of peripheral blood mononuclear cells with combination IL-2/IL-4 for 48 hours, but not with IL-2 or IL-4 alone, abrogated dexamethasone (DEX)-induced glucocorticoid receptor (GCR)-alpha nuclear translocation in both CD4(+) and CD8(+) T cells. \"    ///    Combination IL-2/IL-4 is known to induce T-cell steroid resistance.     ///    The combination of IL-2/IL-4 induced p38 MAPK activation in CD3(+) cells (30.5 +/- 5.7% cells expressed phospho-p38 MAPK versus no phospho-p38 MAPK expression after media treatment). '), ('9430', 'P65_NFKB1', '', 'P65', 'NFKB1', '16728586', '10', 'breast cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'We studied NF-kappaB/p65, a well-characterised member of the NF-kappaB family that undergoes nuclear translocation when NF-kappaB is activated.     ///    nuclear NF-kappaB/p65 staining in pre-therapy specimens) was linked to chemoresistance.     ///    \"Notably, four patients achieved a complete histological response and none of them had pre-treatment NF-kappaB/p65 nuclear staining. \"    ///    \"To provide evidence in a clinical setting on the role of NF-kappaB in breast cancer, we aimed to study the value of basal NF-kappaB/p65 in predicting resistance to neoadjuvant chemotherapy, and to characterise the pharmacodynamic changes in NF-kappaB/p65 expression following chemotherapy in patients with locally advanced breast cancer. \"    ///    Pre- and post-chemotherapy tumour specimens from 51 breast cancer patients treated with anthracycline- and/or taxane-containing neoadjuvant chemotherapy were assayed by immunohistochemistry for NF-kappaB/p65 subcellular expression.     ///    \"Moreover, the number of patients with NF-kappaB/p65 activation increased after chemotherapy exposure. \"    ///    \"Patients with NF-kappaB/p65 nuclear staining in pre-treatment samples had a 20% clinical response rate, while patients with undetected nuclear staining had a 91% response rate to chemotherapy (P = 0.002). \"    ///    It is concluded that NF-kappaB/p65 activation assayed by immunohistochemistry is a predictive factor of resistance to neoadjuvant chemotherapy in breast cancer patients. ');
