INSERT INTO `ChimerPub_dump` VALUES ('7699', 'BCR_ABL1', '', 'BCR', 'ABL1', '23716539', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The prevalence of the BCR/ABL1 rearrangement increased progressively with age starting from the cohort of patients 10-14 years old and was present in 52.7% of cases in the 6th decade. '), ('7700', 'BCR_ABL1', '', 'BCR', 'ABL1', '23148371', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In this issue of Cancer Discovery, Geng and colleagues report on their use of a combination of promoter cytosine methylation profiling with gene expression and ChIP sequencing to elucidate molecular signatures of adult B-acute lymphoblastic leukemia patient samples with BCR-ABL1, E2A-PBX1, and MLL rearrangements. '), ('7701', 'NPM_ALK', '', 'NPM', 'ALK', '19451065', '16', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our first patient was diagnosed shortly alter this entity was described based on morphology and Ki-1 positivity, while the diagnostic work-up for the last two children included accurate molecular diagnosis for ALK-NPM rearrangement. '), ('7702', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '24464319', '16', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Class II mutations: 24 (17.9?%), 19 (14.2?%), and 9 (6.7?%) children had PML-RARA, RUNX1-RUNX1T1, and CBFB-MYH11 transcripts, respectively. '), ('7703', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17940488', '16', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Karyotypically occult FIP1L1- platelet-derived growth factor receptor alpha and beta rearranged eosinophilic disorders respond to imatinib mesylate with almost 100% efficacy.     ///    \"The FIP1L1- platelet-derived growth factor receptor alpha and beta-positive patients, and those with abnormal T-cell populations are currently the only clearly defined treatable subgroups of hypereosinophilic syndrome. \"    ///    The FIP1L1- platelet-derived growth factor receptor alpha-negative responders to imatinib pose a question as to the existence of subentities with unrecognized tyrosine kinases-based mutation. '), ('7704', 'RARA_PML', '', 'RARA', 'PML', '21120212', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Her complete blood cell count was normal, but magnetic resonance image of brain revealed focal meningeal enhancement and cerebrospinal fluid showed leukemic promyelocytes and PML/RARA rearrangement. '), ('7705', 'EML4_ALK', '', 'EML4', 'ALK', '24419060', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Echinoderm microtubule-associated protein like 4 (EML4)-ALK, which is derived from the rearrangement of ALK and EML4 genes, has been validated as a therapeutic target in a subset of patients with NSCLC.     ///    \"Finally, ASP3026 exhibited potent antitumor activity against cells expressing EML4-ALK with a mutation in the gatekeeper position (L1196M) that confers crizotinib resistance. \"    ///    \"In mice xenografted with NCI-H2228 cells expressing EML4-ALK, orally administered ASP3026 was well absorbed in tumor tissues, reaching concentrations >10-fold higher than those in plasma, and induced tumor regression with a wide therapeutic margin between efficacious and toxic doses. \"'), ('7706', 'ROP_RAC', '', 'ROP', 'RAC', '19070620', '16', '', '', '', '', '', '', '', '', '', ' Plant G proteins of the ROP/RAC family regulate cellular processes including cytoskeletal rearrangement in polar growth. '), ('7707', 'DMD_BMD', '', 'DMD', 'BMD', '15478603', '16', '', 'PCR', '', '', '', '', '', '', '', 'For the first time screening deletions of DMD/BMD patients in the northeast of China, we have found distribution of the deletions mainly lied in two hot-spots, neighboring regions of exon 8 might be a real deletion \'hot spot\' in this area compared with other areas of our country.     ///    \"To detect the distribution characteristics of dystrophin gene deletions of the DMD/BMD patients in the northeast of China and apply for prenatal gene diagnosis, we have analyzed the distribution of the breakpoints of the deleted-patients and the optimized primer-assembly after screening deletions of 120 DMD/BMD patients via multiplex PCR with 12-pair primers and male high-risk fetuses have been detected deletion by multiplex PCR.\"    ///    \" To detect the distribution characteristics of dystrophin gene deletions of the DMD/BMD patients in the northeast of China and apply for prenatal gene diagnosis, we have analyzed the distribution of the breakpoints of the deleted-patients and the optimized primer-assembly after screening deletions of 120 DMD/BMD patients via multiplex PCR with 12-pair primers and male high-risk fetuses have been detected deletion by multiplex PCR. \"'), ('7708', 'TEL_AML1', '', 'TEL', 'AML1', '17611665', '16', 'B cell leukemia', '', '', '', '', '', '', '', '', 'Importantly, hypermethylation of DLX3 significantly reduces its expression in MLL-AF4 rearranged leukemias while methylation is almost absent in TEL-AML1 positive ALL specimens.     ///    \"To validate the role of DLX genes in paediatric B-ALL cells, we studied two cell lines and two groups of patients with paediatric chromosomal rearrangements: MLL-AF4 and TEL-AML1, respectively. \"'), ('7709', 'RET_CCDC6', '', 'RET', 'CCDC6', '26187428', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We identify two paired pre- and post-EGFR TKI progression EGFR-mutated NSCLC patient tumor samples where both post EGFR TKI samples harbored in-frame CCDC6-RET rearrangements but not in the pre-EGFR TKI tumor samples. '), ('7710', 'MLLT10_MLL', '', 'MLLT10', 'MLL', '23666221', '16', 'hemophagocytic lymphohistiocytosis', 'PCR;RT-PCR', '', '', '', '', '', 'KB', '', 'We considered tumor-associated HLH to be initiated from leukemic stem cells (LSCs) in the bone marrow niche because reverse transcription-polymerase chain reaction (RT-PCR) analysis of a bone marrow biopsy sample was positive for MLL-MLLT10. '), ('7711', 'IGH_BCL2', '', 'IGH', 'BCL2', '23907319', '16', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In each case, there was a c-MYC and BCL2/IGH rearrangement diagnostic of double-hit lymphoma. '), ('7712', 'RET_PTC', '', 'RET', 'PTC', '15763659', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A high (47%) prevalence of RET/PTC rearrangements was found in HTT.     ///    \"In this study, we investigated the prevalence of B-raf point mutations, RET/PTC rearrangements and N-ras point mutations in a large HTT series (28 samples). \"    ///    Molecular profile of hyalinizing trabecular tumours of the thyroid: high prevalence of RET/PTC rearrangements and absence of B-raf and N-ras point mutations..     ///    \"These findings suggest that, although RET/PTC, N-ras, and B-raf proteins may act along the same signalling cascade, the biological and morphological outcome of their oncogenic activation is not completely overlapping. \"'), ('7713', 'MET_HGF', '', 'MET', 'HGF', '20146583', '16', 'non small cell lung cancer;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. '), ('7714', 'TAL1_SIL', '', 'TAL1', 'SIL', '12199779', '16', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'By searching GenBank, we identified PAC RP1-18D14 which contains SIL, TAL-1 and 633-DNA, confirming this novel rearrangement as a new deletion of the SIL/TAL-1 locus..     ///     Deletions involving the SIL-TAL-1 locus are seen in 15% of T-acute lymphoblastic leukaemias (T-ALL).     ///    Molecular characterization of a new recombination of the SIL/TAL-1 locus in a child with T-cell acute lymphoblastic leukaemia.. '), ('7715', 'RET_PTC', '', 'RET', 'PTC', '19627734', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Chromosomal RET rearrangements, called RET/PTC, result in constitutive ligand-independent activation of RET kinase, which was the first genetic anomaly detected in PTC and is found in 5-70% of tumoral samples.     ///    Affected elements include RET/PTC rearrangements and point mutations of the Ras and BRAF genes.     ///    \"However, no clear association has been found between RET/PTC and clinical features. \"'), ('7716', 'EMD_FLN1', '', 'EMD', 'FLN1', '9140403', '16', 'Emery-Dreifuss muscular dystrophy', '', '', '', '', '', '', '', '', 'Furthermore, our characterization of this rare DNA rearrangement revealed a more common result of the mispairing of these large inverted repeats--recombination contained within the inverted repeats leading to the maintenance of repeat sequence homogeneity and inversion of the 48-kb FLN1/emerin region.     ///    \"Flanking this 48-kb FLN1/emerin region are two large inverted repeats, each 11.3 kb, that exhibit > 99% sequence identity. \"'), ('7717', 'RET_PTC', '', 'RET', 'PTC', '26649796', '16', 'thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thyroid tissue blocks from 42 consecutive pediatric WDTC patients who underwent thyroidectomy between 2001 and 2013 were analyzed at Quest Diagnostics for BRAF(V600E), RAS mutations (N,K,H), and RET/PTC and PAX8/PPAR? rearrangements, using validated molecular methods.     ///    \"Of patients with BRAF(V600E), 77.8% were Hispanic and 88.9% were >15 years, while all RET/PTC-positive patients were ?15 years (p?=?0.003). \"    ///    \"Mutations were noted in 21/39 (53.8%), with both BRAF(V600E) (n?=?9), and RET/PTC (n?=?6) detected only in PTC. \"    ///    \"Of 28 PTC patients, 57.1% had mutations: 32.1% with BRAF(V600E), 21.4% with RET/PTC, and 3.6% with NRAS. \"'), ('7718', 'EIF5A_TAP', '', 'EIF5A', 'TAP', '16215987', '16', '', '', '', '', '', '', '', '', '', 'The TAP-tag was fused in-frame to chromosomal TIF51A gene and eIF5A-TAP fusion protein expressed at its natural level was used as the bait to fish out its interacting partners. '), ('7719', 'RET_PTC', '', 'RET', 'PTC', '17725429', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We screened for mutations in the most relevant oncogenes/tumor suppressor genes affected in thyroid carcinogenesis: RAS, BRAF, CTNNB1, and TP53 along with RET/PTC rearrangements.     ///    \"The panel of cell lines we have studied displayed activation of several oncogenes (BRAF, RAS, RET/PTC) and inactivation of tumor suppressor genes (TP53) known to be important for thyroid carcinogenesis. \"'), ('7720', 'RARA_PML', '', 'RARA', 'PML', '18290568', '16', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'After transplant, this patient remained in complete hematological and cytogenetic remission but nested RT-PCR assays with detection thresholds of 10(-3)/10(-4) were positive for PML-RARA rearranged gene even chimerism tests showed 100% of donor profile.     ///    \"Predictive value of RT-PCR PML-RARA transcript monitoring for extramedullary relapse of acute promyelocytic leukemia in the pleura, heart and pericardium after allogeneic SCT.. \"    ///    Presented patient underwent alloSCT in second complete hematological and cytogenetic remission with presence of promyelocytic leukemia-retinoic acid receptor A (PML-RARA) detected in reverse transcription-polymerase chain reaction (RT-PCR) with sensitivity of 10(-2).     ///    \"At that time, PML-RARA transcript detected in RT-PCR assay (10(-2)) was positive for the first time after transplant. \"    ///    We conclude that detection of PML-RARA after alloSCT should be indication insightful diagnosis of medullary or extramedullary (EM) relapse. '), ('7721', 'RET_PTC', '', 'RET', 'PTC', '15689324', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Papillary thyroid carcinomas are characterized in 70% of cases by the presence of either a RET/PTC rearrangement, or an activating point mutation of RAS or BRAF genes that induce a constitutive activation of the MAP kinase pathway. '), ('7722', 'RET_PTC', '', 'RET', 'PTC', '24248188', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The increased incidence is not likely to be due to environmental or therapeutic radiation because the percentage of RET/PTC rearrangements decreased..     ///    The proportion of RET/PTC rearrangements decreased from 11% to 2% (P = .038).     ///    \"We identified and histologically reviewed 469 consecutive cases of PTC from one US institution from 4 preselected periods (1974 to 1985, 1990 to 1992, 2000, and 2009) and assessed BRAF and RAS point mutations and RET/PTC rearrangements among 341 tumors ?0.3 cm in size. \"'), ('7723', 'IGH_BCL2', '', 'IGH', 'BCL2', '22343534', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Further, we show that BCL2 mutations commonly occur in patients with BCL2/IgH rearrangements as a result of somatic hypermutation normally occurring at the IgH locus. '), ('7724', 'RET_PTC1', '', 'RET', 'PTC1', '21674964', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'It was established that induction of both, RET/PTC1 and RET/PTC3 rearrangements was present only in carcinoma samples.     ///    [Analysis of the expression of RET/PTC oncogenes in post-chernobyl papillary thyroid carcinomas of patients from different age groups]..     ///    The presence of RET/PTC oncogenes was detected using polymerase chain reaction.     ///    It should be noted that the part of carcinomas with induction of RET/PTC1 did not change with increasing the age of patients.     ///    In PTCs the percentage of RET/PTC-positive tumors with increasing the age of patients has been decreasing. '), ('7725', 'RET_PTC', '', 'RET', 'PTC', '24503805', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No RET/PTC rearrangements or BRAF-V600E mutation, which are the two most common genetic alterations detected in papillary thyroid carcinoma, were found. '), ('7726', 'RET_GOLGA5', '', 'RET', 'GOLGA5', '10741739', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'In 3.3%, we observed novel types of RET rearrangements: GOLGA5/ RET (PTC5), HTIF/RET (PTC6), RFG7/RET (PTC7), and an as yet undefined RFGX/RET.RET rearrangements, preferentially ELE1/RET, are related to rapid tumor development. '), ('7727', 'RET_PTC1', '', 'RET', 'PTC1', '11443191', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In addition, eight cases with an unknown RET/PTC rearrangement and three cases with the concomitant expression of RET/PTC1 and RET/PTC3 were found.     ///    \"Conflicting results on the frequency and type of RET/PTC rearrangements have been reported in relation to age, radiation exposure, and histological tumor variant. \"    ///    \"No significant correlation was observed between the frequency and/or the type of RET/PTC rearrangement and clinical-epidemiological features of the patients such as age at diagnosis, age at exposure, histological variant, gender and tumor-node-metastasis (TNM) categories. \"    ///    The overall frequency of RET/PTC rearrangements in papillary thyroid cancer was 55%.     ///    \"RET/PTC rearrangements were also found in 52.4% of post-Chernobyl benign nodules, in 37.5% of benign nodules exposed to external radiation and in 13.9% of naturally occurring nodules (P = 0.005, between benign post-Chernobyl nodules and naturally occurring nodules). \"    ///    \"No difference of RET/PTC rearrangements was found between samples from irradiated (external x-ray) or not irradiated adult patients, as well as between children and adults with naturally occurring, not irradiated, thyroid cancer. \"    ///    \"RET/PTC rearrangements in thyroid nodules: studies in irradiated and not irradiated, malignant and benign thyroid lesions in children and adults.. \"    ///    \"In conclusion, our results indicate that the presence of RET/PTC rearrangements in thyroid tumors is not restricted to the malignant phenotype, is not higher in radiation-induced tumors compared with those naturally occurring, is not different after exposure to radioiodine or external radiation, and is not dependent from young age. \"    ///    The relative frequency of RET/PTC1 and RET/PTC3 in rearranged benign tumors showed no major difference.     ///    \"We designed the present study to evaluate in a single laboratory, using the same methodologies, the pattern of RET/PTC activation in thyroid tumors from different groups of patients (exposed or not exposed to radiation, children or adults, with benign or malignant tumors) in relationship to the above mentioned variables. \"'), ('7728', 'RET_PTC', '', 'RET', 'PTC', '20860421', '16', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Are RET/PTC rearrangements in benign thyroid nodules of biological significance?. '), ('7729', 'ETO_CDR', 't(8;21)  / ', 'ETO', 'CDR', '9632137', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells.. '), ('7730', 'RET_PTC1', '', 'RET', 'PTC1', '25489262', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 rearrangement and nodal metastasis were significantly associated in all patients (p = 0.042), marginally associated in ptc patients (p = 0.051), but not associated in microptc patients (p = 0.700).     ///     We investigated correlations of somatic BRAF V600E mutation and RET/PTC1 rearrangement with recurrent disease in Chinese patients with papillary thyroid carcinoma (ptc).     ///    We found somatic BRAF V600E mutation in 68.7% and RET/PTC1 rearrangement in 25.7% of the patients.     ///    RET/PTC1 rearrangement was not significantly associated with recurrent disease. '), ('7731', 'TLX3_TLX1', '', 'TLX3', 'TLX1', '22516263', '16', 'acute lymphoid leukemia', '', '', '', '', '', '', '', '', 'We show that the cortical thymic maturation arrest in T-lineage ALLs that overexpress TLX1 or TLX3 is due to binding of TLX1/TLX3 to ETS1, leading to repression of T?cell receptor (TCR) ? enhanceosome activity and blocked TCR-J? rearrangement.     ///    TLX1/TLX3 abrogation or enforced TCR?? expression leads to TCR? rearrangement and apoptosis.     ///    \"Importantly, the autoextinction of clones carrying TCR?-driven TLX1 expression supports TLX \"\"addiction\"\" in TLX-positive leukemias and provides further rationale for targeted therapy based on disruption of TLX1/TLX3.. \"'), ('7732', 'RET_PTC', '', 'RET', 'PTC', '19764411', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Genomic alternations, such as RET/PTC and PAX8-PPARgamma1 rearrangements and a mutation in the BRAF gene, play an oncogenic role by preventing thyroid fetal cells from differentiating. '), ('7733', 'BCL2_IGH', '', 'BCL2', 'IGH', '16918993', '16', 'B cell lymphoma;lymphoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Ninety-eight B-cell lymphomas (28 FCL, 5 MCL, and 65 DLBCL) were analyzed by immunohistochemical examination for p63, bcl-6, CD10 and MUM-1 proteins, and for rearrangement of bcl-2/IgH.     ///    \"In DLBCL, the expression of p63 and bcl-6 showed a significant correlation (P < 0.02), but no correlation was observed between p63 and expression of CD10, MUM-1, or bcl-2/IgH rearrangement. \"'), ('7734', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '23368869', '16', 'leukemia;hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Most notably, chromosomal rearrangements, such as FIP1L1-PDGFRA fusions caused by internal deletions in chromosome 4, are now known to be associated with many chronic eosinophilic leukemias. '), ('7735', 'RET_PTC', '', 'RET', 'PTC', '23298138', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'To date, four types of somatic genetic alterations are known to hold potential interest for the diagnosis and/or prognosis of follicular cell-derived thyroid carcinomas: BRAF and RAS mutations, and RET/PTC and PAX8/PPAR? rearrangements. '), ('7736', 'CD56_CD16', '', 'CD56', 'CD16', '8485057', '16', '', '', '', '', '', '', '', '', '', 'TCR genotypic studies in 58 patients showed that the 16 patients with rearranged TCR components were restricted to the CD8+NKa+ group and that, in most of these, the CD8+ fraction showed abnormal relative CD16/CD56 expression. '), ('7737', 'RET_PTC', '', 'RET', 'PTC', '17727338', '16', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No PTC case was found positive at the same time for BRAF mutation and RET/PTC rearrangements.     ///    \"In our series, RET/PTC rearrangement was detected in only one case of PTC, whereas it was not present in any case of adenoma, goiter, or Hashimoto\'s thyroiditis. \"    ///    Samples were also examined for RET/PTC rearrangements.     ///    \"BRAF(V600E) mutation detected on FNAB specimens, more than RET/PTC rearrangements, is highly specific for PTC and its routine research might well be an adjunctive and integrative diagnostic tool for the preoperative diagnostic iter.. \"    ///    Fine-needle aspiration molecular analysis for the diagnosis of papillary thyroid carcinoma through BRAF V600E mutation and RET/PTC rearrangement.. '), ('7738', 'MTG8_DNMT1', 't(8;21)(q22;q22) / t(8;21)  / ', 'MTG8', 'DNMT1', '15735013', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'By a chromatin immunoprecipitation assay, we identified a RUNX1/MTG8-DNMT1 complex on the IL-3 promoter in Kasumi-1 cells and in primary RUNX1/MTG8-positive AML blasts. '), ('7739', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22373549', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Furthermore, real-time quantitative RT-PCR assays showed that the ETV6-RUNX1 mRNA transcript levels decreased during conventional chemotherapy or hematopoietic stem cell transplantation.     ///    \"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%). \"'), ('7740', 'TEL_AML1', '', 'TEL', 'AML1', '18182569', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'After adjusting for known prognostic features such as presence of the TEL-AML1 rearrangement, National Cancer Institute (NCI) risk status, ploidy, and race, the G allele of a common polymorphism in chemokine receptor 5 (CCR5) was associated with more favorable MRD status than the A allele (P = .009, logistic regression), when comparing \"best\" and \"worst\" risk groups. '), ('7741', 'CFHR4_CFHR1', '', 'CFHR4', 'CFHR1', '19745068', '16', 'age-related macular degeneration', '', '', '', '', '', '', '', '', 'Here, we report on the identification of persons carrying novel deficiencies of CFHR1, CFHR3, and CFHR1/CFHR4A, resulting from point mutations in CFHR1 and CFHR3 or from a rearrangement involving CFHR1 and CFHR4. '), ('7742', 'RET_NTRK1', '', 'RET', 'NTRK1', '17627253', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In many studies, no correlation was observed between the presence of RET and/or NTRK1 rearrangement and such parameters, as patient\'s age at diagnosis, gender, histopathological type of tumour or clinical stage (TNM stage grouping), although the earliest clinical symptoms and the worst disease outcomes were observed for RET/NTRK1 rearrangement positive tumours. '), ('7743', 'SGT1_HSP90', '', 'SGT1', 'HSP90', '22623728', '16', '', '', '', '', '', '', '', '', '', 'The identification of Scrib as an Sgt1-HSP90 client protein required for three-dimensional cell migration suggests that chaperone-mediated regulation of polarity protein stability and homeostasis is an unappreciated mechanism underlying dynamic rearrangements during morphogenesis..     ///    Scrib regulates HGF-mediated epithelial morphogenesis and is stabilized by Sgt1-HSP90..     ///    \"Furthermore, reduced Scrib stability, following inhibition of Sgt1-HSP90, lowers the cellular abundance of the Scrib-?Pix-PAK complex. \"'), ('7744', 'EML4_ALK', '', 'EML4', 'ALK', '26525068', '16', 'lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We report here a case of a very young woman with diagnosis of early-stage lung adenocarcinoma harboring EML4-ALK rearrangement. '), ('7745', 'NOTCH1_FBXW7', '', 'NOTCH1', 'FBXW7', '20861909', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'NOTCH1/FBXW7 mutations were associated with TLX3 rearrangements, but were less frequently identified in TAL1- or LMO2-rearranged cases.     ///    \"Comparing our data with other studies, we conclude that the prognostic significance for NOTCH1/FBXW7 mutations is not consistent and may depend on the treatment protocol given.. \"    ///    We retrospectively investigated the relevance of NOTCH1/FBXW7 mutations for pediatric T-ALL patients enrolled on Dutch Childhood Oncology Group (DCOG) ALL7/8 or ALL9 or the German Co-Operative Study Group for Childhood Acute Lymphoblastic Leukemia study (COALL-97) protocols.     ///    \"Based on microarray expression analysis, NOTCH1/FBXW7 mutations were associated with activation of NOTCH1 direct target genes including HES1, DTX1, NOTCH3, PTCRA but not cMYC. \"'), ('7746', 'PSI4RAC1_PSI2RAC1', '', 'PSI4RAC1', 'PSI2RAC1', '15474301', '16', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Neither RT-PCR with pseudogene specific restriction enzymes, nor the sequencing of 130 cDNA clones from benign and malignant breast tissue and cell lines, detected the transcription of any of the Rac1 pseudogenes (psi2Rac1-psi4Rac1). '), ('7747', 'QKI_MYB', '', 'QKI', 'MYB', '26869254', '16', '', '', '', '', '', '', '', '', '', ' MYB-QKI rearrangement promotes angiocentric glioma via three genetic and epigenetic mechanisms.     ///    MYB-QKI Fusions Drive Angiocentric Glioma through Multiple Mechanisms.. '), ('7748', 'RET_PTC', '', 'RET', 'PTC', '20628483', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In cases, RET/PTC rearrangements are found in 30%-40%, RAS mutations in about 10%, and BRAF mutations in around 40%-50%, with no overlap between these mutations results in papillary thyroid cancer, while a higher prevalence of BRAF mutations (up to 70%) has been observed in DeTC. '), ('7749', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '18502330', '16', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'PAX8-PPARgamma rearrangements. '), ('7750', 'RET_PTC', '', 'RET', 'PTC', '26927651', '16', 'thyroid nodule;thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Carney defended the benign nature of this condition and therefore continues calling it adenoma, the World Health Organization calls for the potential of tumor malignancy, and others qualify it as a variant of papillary carcinoma based on the presence of rearranged in transformation/papillary thyroid carcinoma (RET/PTC) rearrangements. '), ('7751', 'gamma 2_CNS2', '', 'gamma 2', 'CNS2', '14969510', '16', '', '', '', '', '', '', '', '', '', 'A synthetic peptide, reproducing the first five amino acid residues of the gamma(2)-casein sequence, was formylated to generate the novel haptenic structure, already well-recognized in formaldehyde-treated milk and arising out of molecular rearrangement after the addition of formaldehyde to the alpha-amino group of the histidine residue at the N terminus of gamma(2)-casein.     ///    Immunochemical detection of formylated gamma(2)-casein in cheese..     ///    A polyclonal antibodies preparation produced against the formylated peptide adduct proved to be a highly specific analytical tool for detecting the formylated adduct of gamma(2)-casein in formaldehyde-treated milk.     ///    Polyclonal antibodies obtained against the unmodified peptide were able to detect selectively residual native gamma(2)-casein in ripened cheese.. '), ('7752', 'MIG6_EGFR', '', 'MIG6', 'EGFR', '26280531', '16', '', '', 'Kinase', '', '', '', '', '', '', 'Crystal structures of human EGFR-Mig6 complexes reveal the structural basis for enhanced phosphorylation of primed Mig6 and show how Mig6 rearranges after phosphorylation by EGFR to effectively irreversibly inhibit the same receptor that catalyzed its phosphorylation. '), ('7753', 'CFL1_ADF', '', 'CFL1', 'ADF', '14657234', '16', '', '', '', '', '', '', '', '', '', ' Proteins in the ADF/cofilin (AC) family are essential for rapid rearrangements of cellular actin structures.     ///    ADF/cofilin use an intrinsic mode of F-actin instability to disrupt actin filaments.. '), ('7754', 'BCR_ABL1', '', 'BCR', 'ABL1', '23614569', '16', 'hematologic malignancy;hematologic malignancy\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Further, the BCR-ABL1 mRNA levels of the QST RNA isolation were highly consistent with RB RNA isolation, only when the lysis buffer RLT Plus in addition contained BME.     ///    We used QIAsymphony technology (QST) using a customized RNA CT 800 V6 protocol for automated semi-high-throughput isolation of RNA from human specimens and compared the results for breakpoint cluster region-c-abl oncogene 1 (BCR-ABL1) quantification by real-time quantitative polymerase chain reaction (RQ-PCR) and detection of JAK2 V617F mutations by reverse-transcriptase PCR (RT-PCR) on QST RNA with RNA isolation performed with our routine manual method using RNA-Bee (RB). '), ('7755', 'RET_PTC1', '', 'RET', 'PTC1', '18651802', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'It potently inhibited cell proliferation (IC(50) = 0.059-0.783 microM) and arrested cell cycle at the G0/G1 phase of cells harboring BRAF or RAS mutations but not cells harboring wild-type alleles or the RET/PTC1 rearrangement.     ///    \"Synergistic inhibitory effects were observed when PD0325901 was combined with phosphatidylinositol 3-kinase (PI3K) or NF-kappaB pathway inhibitors in most cells, including the RET/PTC1-harboring cells. \"'), ('7756', 'CYP21P_CYP21', '', 'CYP21P', 'CYP21', '11093272', '16', '', '', '', '', '', '', '', '', '', 'We studied these mechanisms by comparing the genetic variability of CYP21, CYP21P, and CYP21P/CYP21 hybrids (resulting from large-scale rearrangements) at eight mutation sites in a group of Dutch steroid 21-hydroxylase deficiency patients, their family members, and controls.     ///    \"The majority of the putative CYP21P-CYP21 transitions in hybrid genes appears to occur in a distinct zone that lies 5\' of nucleotide 2108, which is further downstream than previously hypothesised. \"    ///    \"Apparent \'large-scale\' CYP21-CYP21P gene conversions lead to hybrid genes that are very similar to those found in CYP21 deletions, so these haplotypes have probably resulted from a meiotic double unequal crossover.. \"'), ('7757', 'ETV6_ABL1', '', 'ETV6', 'ABL1', '25900790', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Long-term efficacy and safety of nilotinib therapy after imatinib failure in eosinophilic myeloproliferative neoplasm and ETV6-ABL rearrangement.. '), ('7758', 'SP100_PML', 't(15;17)  / ', 'SP100', 'PML', '9636146', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'These observations present molecular evidence for an association between the PML/SP100 NBs and the chromatin nuclear compartment.     ///    \"Both HP1 and SP100-HMG concentrate in the PML/SP100 NBs, and overexpression of SP100 leads to enhanced accumulation of endogenous HP1 in these structures. \"    ///     The PML/SP100 nuclear bodies (NBs) were first described as discrete subnuclear structures containing the SP100 protein. '), ('7759', 'RET_PTC1', '', 'RET', 'PTC1', '20025539', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Supplemental genetic analysis did not demonstrate a BRAF V600E mutation or expression of a RET/PTC1 rearrangement in one case, but revealed a BRAF V600E mutation in the second case. '), ('7760', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '16781478', '16', 'hematologic malignancy', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Bcr/Abl in chronic myeloid leukemia, FIP1L1-PDGFRA or c-kit(D816V) in systemic mastocytosis, rearrangements of PDGFRB in chronic eosinophilic leukemia, and rearrangements of FGFR1 in stem cell leukemia/lymphoma syndrome. '), ('7761', 'GSK3_ERK', '', 'GSK3', 'ERK', '16537926', '16', '', '', '', '', '', '', '', '', '', 'Hence, phosphorylation of paxillin on serines 126 and 130, which is mediated by an ERK/GSK-3 dual-kinase mechanism, plays an important role in cytoskeletal rearrangement.. '), ('7762', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24460680', '16', 'myeloproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'However, the coexistence of FIP1L1-PDGFRA rearrangement associated with acute myeloid leukaemia is extremely rare. '), ('7763', 'RET_PTC', '', 'RET', 'PTC', '21725210', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We conclude that sunitinib effectively inhibits RET/PTC rearrangement cells but not BRAF mutated cells.     ///    \"Immunoblotting revealed effective blocking of MEK/ERK pathway in RET/PTC rearrangement cells, but not in BRAF mutated cells. \"    ///    Cell cycle analysis showed G1 arrest in RET/PTC rearrangement cells.     ///    Sunitinib inhibits papillary thyroid carcinoma with RET/PTC rearrangement but not BRAF mutation..     ///    \"Cell growth of papillary thyroid cancer cells with RET/PTC rearrangement was effectively inhibited at low doses of sunitinib (IC50=0.658 ?M), whereas that of BRAF mutated cells required higher doses. \"    ///    \"We investigated the effect of sunitinib on papillary thyroid carcinoma cells harboring RET/PTC rearrangement and BRAF mutation using TPC-1M, SNU-790, and B-cPAP cell lines. \"    ///    In vivo orthotopic thyroid cancer mouse model demonstrated statistically significant tumor growth inhibition by sunitinib in RET/PTC rearrangement cancer cells. '), ('7764', 'CD8_CD7', '', 'CD8', 'CD7', '26441229', '16', 'severe combined immunodeficiency', '', '', '', '', '', '', '', '', 'T-cell receptor rearrangements were functionally required at the CD4(-)CD8(-)CD7(+)CD5(+) stage given the developmental block and extent of rearrangements in mice transplanted with Artemis-SCID cells. '), ('7765', 'RET_PTC3', '', 'RET', 'PTC3', '16405408', '16', 'struma ovarii', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A quite exhaustive molecular analysis of thyroid specific genes and oncogenes provided two interesting findings: the low PDS mRNA expression, which may explain the low hormonal production and the absence of thyrotoxicosis and the presence of a RET/PTC3 rearrangement, which prompts the possibility of a late malignant evolution..     ///    RET/PTC3 rearrangement and thyroid differentiation gene analysis in a struma ovarii fortuitously revealed by elevated serum thyroglobulin concentration..     ///    \"Despite the absence of malignant features, the expression of RET/PTC3 rearrangement was found, raising the possibility of a potential malignant nature of the tumor. \"'), ('7766', 'RET_NTRK1', '', 'RET', 'NTRK1', '9516975', '16', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/NTRK1 rearrangements in thyroid gland tumors of the papillary carcinoma family: correlation with clinicopathological features..     ///    \"Furthermore, within the PCF, the frequency of RET/NTRK1 positivity was not influenced by the different neoplastic subtypes or the tumor versus degree of differentiation.. \"    ///    \"In addition, a significant association was found between RET/NTRK1 positivity and locally advanced stage of disease at presentation (pT4: P < 0.015). \"    ///    \"The multivariate analysis confirmed that RET/NTRK1 activation parallels an unfavorable disease presentation, which may correlate with a less favorable disease outcome. \"'), ('7767', 'SMED_6476_NADPH', '', 'SMED_6476', 'NADPH', '10978162', '16', '', '', '', '', '', '', '', '', '', 'Single electron reduction of DZQ and AZQ by NADPH: cytochrome P-450 reductase at physiological pH therefore affords the radical anion without any sigmatropic rearrangement products. '), ('7768', 'RET_PTC', '', 'RET', 'PTC', '26868437', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', '5 years after the discovery of RET/PTC rearrangements in PTC, activating point mutations in the RET proto-oncogene were discovered in both hereditary and sporadic forms of medullary thyroid carcinoma (MTC).     ///    \"The diagnostic and prognostic role of the RET/PTC rearrangements in PTC is less relevant but still important in patient management, particularly for deciding if a targeted therapy should be initiated. \"    ///    \"For many years, it was thought that these genetic alterations only occurred in PTC, but, in the past couple of years, some RET/PTC rearrangements have been found in other human tumours. \"'), ('7769', 'RET_PTC', '', 'RET', 'PTC', '23014067', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the last years it has been observed an important change in the oncogenic pattern of PTC with a significant reduction of RET/PTC rearrangements and an increase of BRAFV600E mutation suggesting a change in pathogenic events.     ///    The unique well-demonstrated risk factor of DTC is the exposure to external radiation which is also correlated with the presence of RET/PTC rearrangements. '), ('7770', 'MUC2_MS2', '', 'MUC2', 'MS2', '18000536', '16', 'gastric cancer\r\r', '', '', '', '', '', '', '', '', 'Moreover, hypervariable MUC2 minisatellites were analyzed in matched blood and cancer tissue from 28 patients with gastric cancer and in 4 cases of MUC2-MS2, minisatellites were found to have undergone rearrangement. '), ('7771', 'RET_PTC1', '', 'RET', 'PTC1', '17420723', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' H4(D10S170) gene has been identified upon its frequent rearrangement with RET in papillary thyroid tumours (RET/PTC1). '), ('7772', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '1314166', '16', '', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Molecular studies on a large series of APLs revealed great heterogeneity of the PML/RAR alpha transcripts due to: (i) variable breaking of chromosome 15 within three PML breakpoint cluster regions (bcr1, bcr2 and bcr3), (ii) alternative splicings of the PML portion and (iii) alternative usage of two RAR alpha polyadenylation sites. '), ('7773', 'RET_PTC', '', 'RET', 'PTC', '25333496', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' A molecular profile including BRAF and RAS mutations as well as RET/PTC rearrangement evaluation has been proposed to provide an accurate presurgical assessment of thyroid nodules and to reduce the number of unnecessary diagnostic surgeries, sparing patients\' health and saving healthcare resources.     ///    \"In addition, we found RET/PTC rearrangements in benign lesions, indicating that this molecular marker might not be useful for the detection of thyroid cancer. \"    ///    Relevance of BRAF(V600E) mutation testing versus RAS point mutations and RET/PTC rearrangements evaluation in the diagnosis of thyroid cancer..     ///    \"BRAF(V600E) mutation analysis is superior to RAS point mutations and evaluation of RET/PTC rearrangements in the diagnosis of thyroid cancer, even in indeterminate lesions.. \"    ///    \"Our aims were to evaluate the diagnostic utility of assessing the presence of BRAF and RAS mutations and RET/PTC1 and RET/PTC3 rearrangements in all cytological categories in an Italian group of thyroid nodule patients assessed prospectively, and to understand whether and which mutation testing might be helpful in cytologically indeterminate nodules. \"    ///    \"On the contrary, RAS and RET/PTC analysis did not further increase diagnostic sensitivity for thyroid cancer. \"'), ('7774', 'RET_PTC', '', 'RET', 'PTC', '22928011', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' XB130, a novel adaptor protein, mediates RET/PTC chromosome rearrangement-related thyroid cancer cell proliferation and survival through phosphatidyl-inositol-3-kinase (PI3K)/Akt pathway.     ///    \"To determine whether RET/PTC is required of XB130-related cancer cell proliferation and survival, WRO thyroid cancer cells (with RET/PTC mutation) and A549 lung cancer cells (without RET/PTC) were treated with XB130 siRNA, and multiple Akt down-stream signals were examined. \"    ///    \"Recently, XB130 was found in different cancer cells in the absence of RET/PTC. \"'), ('7775', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '19910897', '16', 'thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Specific genetic lesions are associated to each thyroid tumor histotype: BRAF mutations and RET/PTC and TRK oncogenes have been detected in PTC, whereas FTC is characterized by PAX8/PPARgamma rearrangements and RAS mutations. '), ('7776', 'NAB1_PP1', '', 'NAB1', 'PP1', '12052877', '16', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'These studies provided new insights into the assembly and regulation of a neurabin I/PP1 complex that controls actin rearrangement to promote spine development in mammalian neurons..     ///    Targeting protein phosphatase 1 (PP1) to the actin cytoskeleton: the neurabin I/PP1 complex regulates cell morphology..     ///    \"Finally, p70S6K was excluded from neurabin I/PP1 complexes and required the displacement of PP1 for recruitment to neurabin I. \"'), ('7777', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '18437172', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Most frequent alterations in follicular carcinomas, the second most common type of thyroid malignancy, include RAS mutations and PAX8-PPARgamma rearrangement. '), ('7778', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19454491', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'In contrast, cases with ETV6/RUNX1 rearrangement had weak CD123 expression. '), ('7779', 'FUS_CHOP', 't(12;16)  / t(16;21) / t(12;16) (q13;p11) / t(16;21) (p11;q22) / ', 'FUS', 'CHOP', '7566973', '16', 'acute myeloid leukemia;liposarcoma;myeloid leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'A strong association was found between the two known types of FUS/CHOP transcripts and the genomic localization of the breakpoints.     ///    In all cases expressing only type I or both type I and II FUS/CHOP transcript the genomic breakpoints mapped to zone 1. '), ('7780', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '23911702', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'T-cell acute lymphoblastic leukemia: 31 ?? 8% versus 11 ?? 3%, P=0.003) and kept its significance in multivariate analysis considering sex, age, initial white blood cell count, and minimal residual disease in B-cell-precursor- and T-cell acute lymphoblastic leukemia, and additionally presence of ETV6/RUNX1, MLL/AF4 and BCR/ABL1 rearrangements in B-cell-precursor acute lymphoblastic leukemia (P=0.002 and P=0.025, respectively).     ///    \"In B-cell-precursor acute lymphoblastic leukemia we observed a significant association of a high CD45 expression with older age, high initial white blood cell count, ETV6/RUNX1 negativity, absence of high hyperdiploidy (P<0.0001), MLL/AF4 positivity (P=0.002), BCR/ABL1 positivity (P=0.007), prednisone poor response (P=0.002) and minimal residual disease (P<0.0001). \"'), ('7781', 'TAL1_SIL', '', 'TAL1', 'SIL', '7773964', '16', 'T ALL;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Moreover, analysis of the Tald rearrangement by DNA-based PCR in four patients with SIL-TAL-1 fusion revealed the type A (Tald1) rearrangement in all cases.     ///    \"In this study, we established a \"\"nested\"\" retrotranscriptase/polymerase chain reaction (RT/PCR) technique which allows detection of the SIL-TAL-1 transcriptional expression. \"    ///    \"Sequence analysis demonstrated the presence of N region and non-random \"\"P\"\" nucleotide, as well as base deletions at the genomic SIL-TAL-1 joining site. \"    ///    RT/PCR detection of SIL-TAL-1 fusion mRNA in Chinese T-cell acute lymphoblastic leukemia (T-ALL)..     ///    \"In about 20% of T-cell acute lymphoblastic leukemias (T-ALL), this gene is disrupted in its 5\' portion by a site-specific 100-kg deletion and is fused with the 5\' part of the SIL gene, to form SIL-TAL-1 chimeric gene. \"'), ('7782', 'MEK_ERK', '', 'MEK', 'ERK', '11023985', '16', '', '', '', '', '', '', '', '', '', 'The rearrangement of the vimentin network occurred independently of the MEK/ERK pathway. '), ('7783', 'H2B_H2A', '', 'H2B', 'H2A', '8041707', '16', '', '', '', '', '', '', '', '', '', 'This rearrangement might play a biological role in nucleosome disassembly and reassembly and the retention of the H2A-H2B dimer (or the whole octamer) during the passing of polymerases through the nucleosome.. '), ('7784', 'RARA_PL', '', 'RARA', 'PL', '18290568', '16', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Presented patient underwent alloSCT in second complete hematological and cytogenetic remission with presence of promyelocytic leukemia-retinoic acid receptor A (PML-RARA) detected in reverse transcription-polymerase chain reaction (RT-PCR) with sensitivity of 10(-2). '), ('7785', 'TIAM1_RAC1', '', 'TIAM1', 'RAC1', '16195373', '16', '', '', '', '', '', '', '', '', '', 'Regulation of sphingosine 1-phosphate-induced endothelial cytoskeletal rearrangement and barrier enhancement by S1P1 receptor, PI3 kinase, Tiam1/Rac1, and alpha-actinin..     ///    \"Taken together, these results suggest that S1P-induced recruitment of S1P1 to CEM fractions promotes PI3 kinase-mediated Tiam1/Rac1 activation required for alpha-actinin-1/4-regulated cortical actin rearrangement and EC barrier enhancement.. \"    ///    \"PI3 kinase inhibition (LY294002) attenuated S1P-induced Tiam1 association with S1P1, Tiam1/Rac1 activation, alpha-actinin-1/4 recruitment, and EC barrier enhancement. \"'), ('7786', 'RET_PTC3', '', 'RET', 'PTC3', '19956182', '16', 'thyroid carcinoma;papillary carcinoma;breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'most early cases were solid PTCs with RET-PTC3 rearrangements, later cases were classical PTCs with RET-PTC1 rearrangements. '), ('7787', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '17015828', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'The TEL-AML1 (ETV6-RUNX1) fusion in precursor-B (pre-B) ALL is the most common genetic rearrangement in childhood cancer.     ///    \"We demonstrate that TEL-AML1 induces a B cell differentiation arrest, and that leukemia development is associated with loss of TEL expression and elevated Bcl2/Bax ratio. \"    ///    \"The TEL-AML1 transgenic zebrafish models human pre-B ALL, identifies the molecular pathways associated with leukemia development, and serves as the foundation for subsequent genetic screens to identify modifiers and leukemia therapeutic targets.. \"    ///    \"TEL-AML1 expression in all lineages, but not lymphoid-restricted expression, led to progenitor cell expansion that evolved into oligoclonal B-lineage ALL in 3% of the transgenic zebrafish. \"    ///    TEL-AML1 transgenic zebrafish model of precursor B cell acute lymphoblastic leukemia.. '), ('7788', 'FUS_CHOP', '', 'FUS', 'CHOP', '12828062', '16', 'gastrointestinal stromal tumor\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Positive reactivity for CD117 (c-kit, a transmembrane tyrosine kinase receptor) and CD34, and the absence of TLS/FUS-CHOP rearrangement confirmed that the tumors were extragastrointestinal counterparts of a gastrointestinal stromal tumor. '), ('7789', 'TRK_T1', '', 'TRK', 'T1', '9172002', '16', '', '', '', '', '', '', '', '', '', 'In a previous study, we showed that two tumors carrying the TPR/NTRK1 rearrangement contained structurally different oncogenes named TRK-T1 and TRK-T2. '), ('7790', 'MFT_BSS', '', 'MFT', 'BSS', '25347032', '16', 'cylidroma\r\r', '', '', '', '', '', '', '', '', 'The pathogenetic mechanisms in patients with BSS/MFT lacking germline sequence alterations or large rearrangements in the CYLD gene remain to be clarified..     ///    \"In this study, the authors have analyzed a cohort of 14 patients with BSS/MFT from 13 families for large genome rearrangements by array comparative genome hybridization followed by confirmatory sequencing. \"    ///    Less than 90 germline mutations of CYLD have been identified in patients with BSS/MFT. '), ('7791', 'MAPK3_P42', '', 'MAPK3', 'P42', '10415066', '16', 'asthma\r\r', '', 'Kinase', '', '', '', '', '', '', 'It is suggested, therefore, that the intrinsic mechanism of eotaxin-induced eosinophil rolling and migration involves activation of the p42/p44 MAPK, possibly through regulation of the cytoskeletal rearrangements necessary for chemotaxis.. '), ('7792', 'RARA_PL', '', 'RARA', 'PL', '18633430', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'However, darinaparsin does not induce promyelocytic leukemia/retinoic acid receptor alpha (PML/RAR alpha) degradation or rearrange PML nuclear bodies in APL cells, nor is its toxicity increased by glutathione depletion. '), ('7793', 'AE3_AE1', 't(11;22)  / ', 'AE3', 'AE1', '23552387', '16', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In addition, small round cells and basaloid/squamoid components were immunoreactive for AE1/AE3, CAM5.2, cytokeratin 5/6, high-molecular weight keratin, p63, and p40 (?Np63). '), ('7794', 'RET_PTC', '', 'RET', 'PTC', '11370535', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The last group features the oncogenes (RET and RET/PTC rearrangements). '), ('7795', 'PDGFR_FIP1L1', '', 'PDGFR', 'FIP1L1', '16779792', '16', 'mastocytosis', '', 'Kinase', '', '', '', '', '', '', 'One patient expressed the FIP1L1-PDGFR-alpha rearrangement gene.     ///    \"In the patient who expressed the FIP1L1-PDGFR-alpha rearrangement gene, a complete response was attained. \"'), ('7796', 'RET_PTC', '', 'RET', 'PTC', '23436219', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC (ret proto-oncogene/papillary thyroid carcinoma) rearrangements were most common (35%), followed by BRAF (15%) and RAS (8%) point mutations.     ///    \"A significant negative association with (131) I dose for BRAF and RAS point mutations and a significant concave association with (131) I dose, with an inflection point at 1.6 Gy and odds ratio of 2.1, based on a linear-quadratic model for RET/PTC and PAX8/PPAR? rearrangements were found. \"    ///    RET/PTC and PAX8/PPAR? chromosomal rearrangements in post-Chernobyl thyroid cancer and their association with iodine-131 radiation dose and other characteristics..     ///    \"These data support the relationship between chromosomal rearrangements, but not point mutations, and (131) I exposure and point to a possible role of iodine deficiency in generation of RET/PTC rearrangements in these patients.. \"'), ('7797', 'PAX7_FKHR', '', 'PAX7', 'FKHR', '16938866', '16', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Alveolar rhabdomyosarcoma (ARMS) is an aggressive myogenic-type tumor and a gain-of-function disease, caused by misexpression of the PAX3-FKHR or PAX7-FKHR fusion oncoprotein from structurally rearranged chromosomes.     ///    \"Here we show that PAX7-FKHR causes nucleated cells to form and separate from syncytial myofibers, which then spread to nonmuscular tissue compartments, including the central nervous system, and that wild-type PAX3 demonstrates similar potential. \"    ///    A Drosophila model of the rhabdomyosarcoma initiator PAX7-FKHR..     ///    \"We further show that Ras, which is known to interfere with the differentiation of myogenic cells, genetically interacts with PAX7-FKHR: constitutively activated Ras enhances PAX7-FKHR phenotypes, whereas loss-of-function ras alleles dominantly suppress PAX7-FKHR activity, including rescue of lethality. \"'), ('7798', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '16938866', '16', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', ' Alveolar rhabdomyosarcoma (ARMS) is an aggressive myogenic-type tumor and a gain-of-function disease, caused by misexpression of the PAX3-FKHR or PAX7-FKHR fusion oncoprotein from structurally rearranged chromosomes.     ///    \"PAX3-FKHR misexpressed in terminally differentiating mouse myofibers can cause rhabdomyosarcoma at a low frequency, suggesting that skeletal muscle is an ARMS tissue of origin. \"'), ('7799', 'P53_ATM', '', 'P53', 'ATM', '19915617', '16', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Therefore, V(D)J recombination, a physiological DNA rearrangement process, activates the ATM/p53 pathway to contain DNA breaks within the noncycling cells and surprisingly this pathway is not important for containing Rag-2 activity. '), ('7800', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '25830134', '16', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Chronic eosinophilic leukemia with a FIP1L1-PDGFRA rearrangement: Two case reports and a review of Korean cases.. '), ('7801', 'BCR_ABL1', 'p24;q11 / t(9;22)(p24;q11) / ', 'BCR', 'ABL1', '25789185', '16', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Regarding BCR-ABL1??negative MPN patients this case report provides strong support for a role of JAK2 activation in the oncogenesis and suggests a possible diagnostic and therapeutic target that should be investigated.     ///     BCR-ABL1 negative myeloproliferative neoplasms (MPNs) are known to contain alterations of the tyrosine kinase JAK2 (located on 9p24) that result in constitutive activation of the encoded protein. '), ('7802', 'TNFA_PML', 't(15;17) / ', 'TNFA', 'PML', '12080044', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The results of this study suggest that A20 is a downstream target of PML-induced apoptosis and supports a role of A20 in modulating cell death induced by PML/TNF alpha in TNF-resistant cells..     ///    We also showed that stable overexpression of A20 inhibits apoptosis and caspase activation induced by PML/TNF alpha. '), ('7803', 'NTRK1_NGFR', '', 'NTRK1', 'NGFR', '16242838', '16', 'congenital insensitivity to pain with anhidrosis', '', 'Kinase', '', '', '', '', '', '', 'Oncogenic rearrangements of the NTRK1/NGF receptor.. '), ('7804', 'RET_PTC1', '', 'RET', 'PTC1', '21219595', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'So far, 15 main RET/PTC rearrangements have been described, among which RET/PTC1 and RET/PTC3 are the most common in PTC - especially in radiation-induced tumours.     ///    The aim of study was an assessment of RET/PTC1 and RET/PTC3 rearrangements in patients with Hashimoto\'s thyroiditis.     ///    Quantitative evaluation of RET/PTC1 and RET/PTC3 rearrangements by real-time PCR was performed by an ABI PRISM?? 7500 Sequence Detection System.     ///    \"Recently, RET/PTC rearrangements have been shown not only in PTC but also in benign thyroid lesions, including Hashimoto\'s thyroiditis (HT). \"    ///    \"In the study, PTC tissues with known RET/PTC1 and RET/PTC3 rearrangements served as a reference standard (calibrator), while ?-actin gene was used as endogenous control. \"    ///    \"Our results indicate that RET/PTC1 and RET/PTC3 rearrangements in Hashimoto\'s thyroiditis, if any, are rather rare events and further investigations should be conducted in order to determine molecular changes, connecting Hashimoto\'s thyroiditis with PTC.. \"    ///    No RET/PTC1 and RET/PTC3 rearrangements were found in the examined samples.     ///    Assessment of RET/PTC1 and RET/PTC3 rearrangements in fine-needle aspiration biopsy specimens collected from patients with Hashimoto\'s thyroiditis..     ///    \"RET/PTC1 and RET/PTC3 are the result of intrachromosomal paracentric inversions in chromosome 10, where RET and the activating genes (H4 and ELE1, respectively) are located. \"'), ('7805', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '23053179', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'KIT D816 mutation associates with adverse outcomes in core binding factor acute myeloid leukemia, especially in the subgroup with RUNX1/RUNX1T1 rearrangement..     ///    The unfavorable impact of D816 mutation was more prominent when the analysis was confined to the RUNX1/RUNX1T1 subtype.     ///    The study patients consisted of 121 patients with CBF AML (82 patients with RUNX1/RUNX1T1 [67.8?%] and 39 patients with CBFB/MYH11 [32.2?%]) recruited from eight institutions in Korea.     ///    \"The KIT D816 mutation demonstrated an unfavorable prognostic implication, particularly in the RUNX1/RUNX1T1 subtype.. \"'), ('7806', 'RET_PTC1', '', 'RET', 'PTC1', '11861385', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PP1 prevented the growth of two human papillary thyroid carcinoma cell lines that carry spontaneous RET/PTC1 rearrangements and blocked anchorage-independent growth and tumorigenicity in nude mice of NIH3T3 fibroblasts expressing the RET/PTC3 oncogene. '), ('7807', 'BCR_ABL1', '', 'BCR', 'ABL1', '23911702', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'T-cell acute lymphoblastic leukemia: 31 ?? 8% versus 11 ?? 3%, P=0.003) and kept its significance in multivariate analysis considering sex, age, initial white blood cell count, and minimal residual disease in B-cell-precursor- and T-cell acute lymphoblastic leukemia, and additionally presence of ETV6/RUNX1, MLL/AF4 and BCR/ABL1 rearrangements in B-cell-precursor acute lymphoblastic leukemia (P=0.002 and P=0.025, respectively).     ///    \"In B-cell-precursor acute lymphoblastic leukemia we observed a significant association of a high CD45 expression with older age, high initial white blood cell count, ETV6/RUNX1 negativity, absence of high hyperdiploidy (P<0.0001), MLL/AF4 positivity (P=0.002), BCR/ABL1 positivity (P=0.007), prednisone poor response (P=0.002) and minimal residual disease (P<0.0001). \"'), ('7808', 'PLZF_LAZ3', 't(15;17) / t(11;17) / ', 'PLZF', 'LAZ3', '11175338', '16', 'acute promyelocytic leukemia;non Hodgkin lymphoma;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', 'In contrast to LAZ3 homomerization, LAZ3/PLZF heteromerization in yeast does not solely depend on POZ/POZ contacts but rather also relies on interactions between the two zinc finger regions and \'cross\' contacts between the zinc finger region and the POZ domain of each partner. '), ('7809', 'BCL2_IGH', 't(14;18)  / ', 'BCL2', 'IGH', '8639245', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The antitumor activity was restricted to the DHL-4 cell line carrying the specific nucleotide sequence at the bcl-2/IgH joining region.     ///    The sense ODNs have been proposed to anneal the hybrid bcl-2/IgH antisense RNA as identified in this study.. '), ('7810', 'TCR_CD3', '', 'TCR', 'CD3', '17277165', '16', '', '', '', '', '', '', '', '', '', 'All tested patients shared similar immunological features such as a partial TCR/CD3 expression defect, mild alphabeta and gammadelta T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA(+) alphabeta T cells. '), ('7811', 'RET_PTC1', '', 'RET', 'PTC1', '12114746', '16', 'trabecular adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 and RET/PTC3 are the most common types, accounting for >90% of all rearrangements.     ///    RET/PTC rearrangement in thyroid tumors..     ///    \" Rearrangement of the RET gene, also known as RET/PTC rearrangement, is the most common genetic alteration identified to date in thyroid papillary carcinomas. \"    ///    \"RET/PTC has recently been found in hyalinizing trabecular adenomas of the thyroid gland, providing molecular evidence in favor of this tumor to be a variant of papillary carcinoma. \"    ///    The prevalence of RET/PTC in papillary carcinomas shows significant geographic variation and is approx 35% in North America.     ///    \"RET/PTC is more common in tumors in children and young adults, and in papillary carcinomas associated with radiation exposure. \"    ///    \"RET/PTC1 tends to be more common in tumors with typical papillary growth and microcarcinomas and to have a more benign clinical course, whereas RET/PTC3 in some populations shows a strong correlation with the solid variant of papillary carcinoma and more aggressive tumor behavior. \"    ///    The occurrence of RET/PTC in Hashimoto thyroiditis and thyroid follicular adenomas and hyperplastic nodules reported in several studies has not been confirmed in other observations and remains controversial..     ///    There is some evidence that different types of RET/PTC may be associated with distinct biologic properties of papillary carcinomas.     ///    \"There are at least 10 different types of RET/PTC, all resulting from the fusion of the tyrosine kinase domain of RET to the 5\' portion of different genes. \"'), ('7812', 'NCOR1_LYN', '', 'NCOR1', 'LYN', '27176795', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Genetic analysis identified three patients with ABL1 rearrangements, eight with PDGFRB rearrangements, two with JAK2 rearrangements, three with IgH-EPOR and one with NCOR1-LYN. '), ('7813', 'EML4_ALK', '', 'EML4', 'ALK', '26018277', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' To evaluate the therapeutic effects of different therapeutic regimens for non-small-cell lung cancer (NSCLC) with or without EML4-ALK rearrangement.     ///    Twenty-one ALK-positive and 50 ALK-negative NSCLC patients who received voluntarily EML4-ALK testing and 75 NSCLC patients without AL testing were enrolled in this study. '), ('7814', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '20427420', '16', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'We report a patient with hyperthyroidism due to a FTC bearing an activating TSHR mutation and PAX8-PPARgamma rearrangements.     ///    Identification of a paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor..     ///     Our main objective was to search for mutations in candidate genes and for paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement in a well-differentiated angioinvasive follicular thyroid carcinoma (FTC) causing hyperthyroidism.     ///    \"under complete medium conditions, co-transfection of PAX8-PPARgamma with either TSHR-M453T or TSHR-WT inhibited cell proliferation. \"    ///    \"We searched for PAX8-PPARgamma in thyroid, PBL, and uterine leiomyoma samples from the patient and family members. \"    ///    PAX8-PPARgamma was present as a mosaicism affecting tissues from endodermal and mesodermal origin.     ///    \"Under deprived medium condition, co-transfection of PAX8-PPARgamma and TSHR-M453T dramatically increased the number of thyrocytes, an effect that it was not observed with TSHR wild-type (WT). \"    ///    PAX8-PPARgamma and TSHR-M453T inhibited or promoted thyrocyte proliferation depending on medium conditions. '), ('7815', 'IGH_BCL2', '', 'IGH', 'BCL2', '22381682', '16', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Follicular lymphoma (FL) is highly associated with the molecular rearrangement BCL2/IGH.     ///    A real-time (PCR) for a real life?? Quantitative evaluation of BCL2/IGH in follicular lymphoma and its implications for clinical practice..     ///    \"Advanced clinical stage (III and IV) and microscopic BM involvement were significantly associated with higher numbers of BCL2/IGH in PB (p < 0.05) and in BM (p = 0.05), regardless all or newly diagnosed patients were evaluated. \"    ///    \"Although BCL2/IGH has been studied many times in follicular lymphoma, its real clinical value remains controversial. \"    ///    High pretreatment burden of BCL2/IGH was associated with significantly shorter progression-free survival.     ///    \"Pretreatment numbers of BCL2/IGH varied in wide ranges, with a median of 2947 (range, 0-1,261,013) copies/10(6) cellular equivalent in peripheral blood (PB) and 4650 copies/10(6) cellular equivalent (range, 1-1,056,813) in bone marrow (BM), the difference between PB and BM was significant (p?= 0.006). \"    ///    \"In conclusion, pretreatment quantity of BCL2/IGH in PB or BM seems to mirror the extent of disease and can provide an auxiliary prognostic parameter in FL. \"    ///    \"Pretreatment of BCL2/IGH quantities were correlated to clinical parameters (e.g., age, stage, sex, lactate dehydrogenase, B symptoms, grade, bulky disease, chemotherapy regimen) and to progression free-survival. \"');
INSERT INTO `ChimerPub_dump` VALUES ('7816', 'TAL1_SIL', '', 'TAL1', 'SIL', '15054041', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'TAL1/LMO1 deregulation is more frequent in alphabeta-lineage T-ALL, when it is predominantly due to SIL-TAL1 rearrangements in children but to currently unknown mechanisms in adolescents and adults.     ///    \"In keeping with preferential alphabeta-lineage involution, the incidence of SIL-TAL1 and HOX11L2 deregulation decreased with age. \"    ///    \"Half demonstrate HOX11, HOX11L2, SIL-TAL1, or CALM-AF10 deregulation, with each being associated with a specific, age-independent stage of maturation arrest. \"'), ('7817', 'RET_PTC', '', 'RET', 'PTC', '16264407', '16', 'papillary carcinoma;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'For PTC, tumors negative for RET/PTC rearrangements were preferred. '), ('7818', 'P82_P72', '', 'P82', 'P72', '17485482', '16', '', '', '', '', '', '', '', '', '', 'In mutant studies, the apparently redundant role(s) of p68 and p72/p82 correspond to their ability to catalyze RNA rearrangement rather than RNA unwinding reactions.     ///    We found that p68 negatively controls p72/p82 gene expression but not vice versa.     ///    Redundant role of DEAD box proteins p68 (Ddx5) and p72/p82 (Ddx17) in ribosome biogenesis and cell proliferation..     ///    \"Knocking down of either gene does not affect cell proliferation, in case of p68 suppression, however, only on condition that p72/p82 overexpression was granted. \"'), ('7819', 'MLL_ENL', '19p13.1 / ', 'MLL', 'ENL', '10516753', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The potential implications of these findings for the leukemogenesis by MLL-ENL are discussed..     ///    MLL-ENL strongly transactivated several unrelated promoters including the promoter of Hoxa7 a potential target gene for the unaltered MLL protein.     ///    Whereas potential functions have been suggested for isolated domains of either MLL or ENL no experimental data exist for the biological properties of the complete chimeric MLL-ENL protein. '), ('7820', 'GREM1_FMN1', '', 'GREM1', 'FMN1', '20610440', '16', 'synostosis', '', '', '', '', '', '', '', '', 'Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly.. '), ('7821', 'RET_PTC', '', 'RET', 'PTC', '12075413', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements in Hashimoto\'s thyroiditis.. '), ('7822', 'TLX1_ABL1', '', 'TLX1', 'ABL1', '17609427', '16', 'T ALL\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'We propose that TLX1(+) T-ALLs be defined as cases expressing TLX1/ABL ratios greater than 1 and/or demonstrating TLX1 rearrangement. '), ('7823', 'STIM1_ORAI1', '', 'STIM1', 'ORAI1', '18832420', '16', '', '', '', '', '', '', '', '', '', 'Both the STIM1-Orai1 interaction as well as the molecular rearrangements in Orai1 are altered by two powerful modulators of CRAC channel activity: extracellular Ca(2+) and 2-APB.     ///    These studies identify a STIM1-dependent conformational change in Orai1 during the activation of CRAC channels and reveal that STIM1-Orai1 interaction and the downstream Orai1 conformational change can be independently modulated to fine-tune CRAC channel activity..     ///    STIM1-Orai1 interactions and Orai1 conformational changes revealed by live-cell FRET microscopy.. '), ('7824', 'BCR_ABL1', '', 'BCR', 'ABL1', '26366092', '16', 'monoclonal gammopathy', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The diagnosis is based on morphological criteria of granulocytic cells and the exclusion of genetic drivers that are known to occur in others MPNs, such as BCR-ABL1, PDGFRA/B, or FGFR1 rearrangements. '), ('7825', 'EML4_ALK', '', 'EML4', 'ALK', '21288922', '16', 'anaplastic large cell lymphoma;non small cell lung cancer;lung cancer;ly\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'This review focuses on ALK rearrangements in NSCLC, starting with the discovery of the EML4-ALK fusion oncogene, and culminating in the recent validation of ALK as a therapeutic target in patients with ALK-rearranged NSCLC. '), ('7826', 'RET_PTC3', '', 'RET', 'PTC3', '26722434', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here, we firstly find CNTN1 is a new gene which can be regulated by RET/PTC3 (Ret proto-oncogene and Ret-activating protein ELE1) rearrangement gene and the protein level of CNTN1 is increasing in thyroid cancer. '), ('7827', 'TRK_T1', '', 'TRK', 'T1', '1532241', '16', '', '', '', '', '', '', '', '', '', 'Sequence analysis revealed that TRK-T1 is created by an intrachromosomal rearrangement that juxtaposes the 5\' end of the TPR gene to the TRK tyrosine kinase domain.     ///    TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas..     ///    \"In this paper we describe the isolation and characterization of one of the thyroid TRK oncogenes, designated TRK-T1. \"    ///    TRK-T1 mRNA encodes a protein of 55 kDa reacting with antibodies against the carboxy terminus of the proto-TRK protein. '), ('7828', 'RET_PTC', '', 'RET', 'PTC', '21526955', '16', 'thyroid nodule;thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPAR ? rearrangements.     ///    \"The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPAR ? mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. \"'), ('7829', 'BCR_ABL1', '', 'BCR', 'ABL1', '8158846', '16', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Chromosomal and molecular analyses, including BCR rearrangement and BCR -ABL mRNA, before and after IFN-alpha treatment demonstrated a recovery of normal hematopoiesis by the treatment of INF-alpha, however, suppressive effect for the blast cells by IFN-alpha was insufficient. '), ('7830', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26392259', '16', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'High-level EZH2 staining was also associated with TMPRSS2:ERG rearrangement and ERG expression in prostate cancers (P < 0.0001) and was linked to deletions of PTEN, 6q15, 5q21 and 3p13 (P < 0.0001 each) particularly in ERG-negative cancers. '), ('7831', 'RET_PTC', '', 'RET', 'PTC', '15681856', '16', 'anaplastic thyroid carcinoma;papillary adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In thyroid papillary carcinomas at least three initiating events may occur, which are point mutations in the BRAF and RAS genes and RET/PTC rearrangements. '), ('7832', 'RET_PTC', '', 'RET', 'PTC', '23404751', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Papillary thyroid carcinomas harbor point mutations of the BRAF and RAS genes or RET/PTC rearrangements, all of which activate the mitogen-activated protein kinase pathway.     ///    \"Molecular testing for BRAF, RAS, RET/PTC, and PAX8/PPAR? for follicular lesion of undetermined significance and follicular neoplasm improve specificity, whereas molecular classifiers may add negative predictive value to fine needle aspiration diagnosis.. \"'), ('7833', 'SLC3A1_PREPL', '', 'SLC3A1', 'PREPL', '21686663', '16', 'cystinuria;cytochrome-c oxidase deficiency', 'PCR', '', '', '', '', '', '', '', 'Molecular analysis of the SLC3A1/PREPL locus was performed in the patients using quantitative polymerase chain reaction (PCR) methods.     ///    HCS in both siblings was confirmed with the deletion screen of the SLC3A1/PREPL locus. '), ('7834', 'TAF15_CIZ', 't(12;22)(p13;q12) / t(12;17)(p13;q11) / t(12;19)(p13;p13) / ', 'TAF15', 'CIZ', '15669012', '16', '', '', '', '', '', '', '', '', '', 'Deletion of the zinc fingers of CIZ resulted in loss of both DNA-binding and transforming properties of TAF15-CIZ, whereas deletion of the other functional domains of CIZ had no effect.     ///    We have then analysed the domains within TAF15-CIZ that are necessary for 3T3 fibroblast transformation. '), ('7835', 'KU80_KU70', '', 'KU80', 'KU70', '16446442', '16', '', '', '', '', '', '', '', '', '', ' The inactivation of either subunit of the Ku70-Ku80 heterodimer, which functions in nonhomologous end-joining and telomere maintenance, generates severe defects such as sensitivity to DNA damage, telomere shortening, and increased gross chromosomal rearrangements (GCRs) that are frequently observed in many cancers. '), ('7836', 'RET_PTC1', '', 'RET', 'PTC1', '26471970', '16', 'thyroid cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In thyroid cancer (TC), PP1 and PP2 (inhibitors of RET, Hck, lck, and fynT kinases, and a good inhibitor of c-Src and platelet-derived growth factor receptor) showed antineoplastic actvity in human papillary TC cell lines that carry spontaneous RET/PTC1 rearrangements. '), ('7837', 'BCR_ABL1', 't(5;9)(q22;q34) / ', 'BCR', 'ABL1', '24215620', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ALL cells carrying a SNX2-ABL1 fusion exhibited a BCR-ABL1+ ALL-like gene expression profile. '), ('7838', 'EML4_ALK', '', 'EML4', 'ALK', '24019783', '16', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Molecular testing revealed that his tumor had an echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) rearrangement. '), ('7839', 'PDGFRB_ETV6', '', 'PDGFRB', 'ETV6', '21350831', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'Therapy-related myeloproliferative neoplasm with ETV6-PDGFRB rearrangement following treatment of acute promyelocytic leukemia.. '), ('7840', 'N-WASP_CDC42', '', 'N-WASP', 'CDC42', '11563861', '16', 'Tangier disease', '', '', '', '', '', '', '', '', 'ATP-binding cassette transporter-1 induces rearrangement of actin cytoskeletons possibly through Cdc42/N-WASP.. '), ('7841', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '25355621', '16', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', 'KB', '', 'Low-grade ESSs frequently contain chromosomal rearrangements that result in JAZF1-SUZ12 fusion or equivalent genetic fusions. '), ('7842', 'TEL_AML1', '', 'TEL', 'AML1', '12730115', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We have recently demonstrated that expression profiling of leukemic blasts can accurately identify the known prognostic subtypes of ALL, including T-cell lineage ALL (T-ALL), E2A-PBX1, TEL-AML1, MLL rearrangements, BCR-ABL, and hyperdiploid karyotypes with more than 50 chromosomes. '), ('7843', 'ROS1_FIG', '', 'ROS1', 'FIG', '24999209', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Lack of GOPC-ROS1 (FIG-ROS1) rearrangement in adult human gliomas.. '), ('7844', 'EML4_ALK', '', 'EML4', 'ALK', '24758501', '16', 'non small cell lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Besides EGFR mutations, EML4-ALK rearrangement is also being analysed and there is potential in analysing BRAF mutations as well. '), ('7845', 'RET_PTC', '', 'RET', 'PTC', '8570194', '16', 'hirschsprung disease', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET is activated, as RET/PTC oncogene, by somatic rearrangements which link the TK domain to a constitutive dimerization interface in papillary thyroid carcinomas.     ///    We have compared the biological and biochemical activity of the TK domains of the wild type and MEN 2B Ret in the context of the RET/PTC. '), ('7846', 'CD8_CD4', '', 'CD8', 'CD4', '26441229', '16', 'severe combined immunodeficiency', '', '', '', '', '', '', '', '', 'T-cell receptor rearrangements were functionally required at the CD4(-)CD8(-)CD7(+)CD5(+) stage given the developmental block and extent of rearrangements in mice transplanted with Artemis-SCID cells. '), ('7847', 'RET_PTC', '', 'RET', 'PTC', '20447069', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A RET/PTC rearrangement was also found in 41% of non-neoplastic thyroiditis tissues, contralateral to tumours harbouring either RET/PTC or BRAF mutations.     ///    The strong association between RET/PTC1 and thyroiditis points to a critical role of this oncoprotein in the modulation of the autoimmune response.     ///    \"The two groups did not show significant differences in clinical and prognostic features, whereas they harboured a significantly different genetic background (P = 0.001), with RET/PTC1 being more represented in PTCs associated with autoimmunity, and BRAF(V600E) in patients with PTC alone. \"    ///    \"The expression of genes encoding CCL20, CXCL8 and l-selectin was significantly higher in PTC specimens (either with RET/PTC, BRAF(V600E) or unknown genetic lesion) compared with normal thyroid samples. \"'), ('7848', 'RET_PTC', '', 'RET', 'PTC', '10027006', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' The RET/PTC oncogene, a rearranged form of the RET proto-oncogene, has been found to be associated with human papillary thyroid carcinomas.     ///    \"To investigate whether RET/PTC causes papillary thyroid carcinoma, we generated a transgenic mouse model of papillary thyroid carcinoma with targeted expression of RET/PTC1 in the thyroid gland. \"    ///    The time of tumor onset appears to be dependent on the expression level of RET/PTC1 in these transgenic mice.     ///    \"Finally, in order to investigate whether tumors induced by RET/PTC3 are more aggressive than those tumors induced by RET/PTC1, we also generated thyroid-targeted RET/PTC3 transgenic mice.. \"    ///    This finding suggests that signaling pathways mediated by one or more of these three phosphotyrosine binding sites are essential for RET/PTC1 to induce thyroid tumor development.     ///    Initial characterization of the thyroid glands of these RET/PTC1 triple-mutant transgenic mice showed no change in follicular morphology or radioiodide-concentrating activity.     ///    \"Thyroid tumors in these RET/PTC1 transgenic mice are characterized by a slow growth rate, thyroid-stimulating hormone (TSH)-responsive tumor progression, and loss of radioiodide-concentrating activity despite continued expression of thyroglobulin (Tg). \"    ///    Thyroid carcinomas in RET/PTC transgenic mice..     ///    \"In high-copy RET/PTC1 transgenic mice, cellular abnormalities, including a slightly increased proliferation rate, aberrant follicle formation, and loss of radioiodide-concentrating activity, can be readily identified at embryological day 18. \"    ///    \"To identify which signaling pathway or pathways perturbed by RET/PTC1 are essential for RET/PTC1 to induce tumor development, we generated transgenic mice carrying a thyroid-targeted RET/PTC1 triple mutant, which contains tyrosine to phenylalanine mutations at tyrosine residues 294, 404, and 451. \"'), ('7849', 'RET_PTC3', '', 'RET', 'PTC3', '23797723', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In 60 cases of PTC with 2 to 4 discrete tumor foci, each focus was tested for BRAF, NRAS, HRAS, and KRAS point mutations and RET/PTC1 and RET/PTC3 rearrangements and analyzed for various histopathologic features. '), ('7850', 'BCR_ABL1', '', 'BCR', 'ABL1', '25401297', '16', 'acute myeloid leukemia;chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The presence of a Philadelphia chromosome with a corresponding BCR-ABL1 rearrangement is the hallmark of chronic myeloid leukemia, but is considered a very rare event in de novo acute myeloid leukemia (AML).     ///    BCR-ABL1(+) acute myeloid leukemia: clonal selection of a BCR-ABL1(-) subclone as a cause of refractory disease with nilotinib treatment.. '), ('7851', 'IL3_CSF2', '', 'IL3', 'CSF2', '2294753', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'The suggested order and orientation for the closely linked IL3/GMCSF gene pair is cen----5\' IL3 3\'----5\' GMCSF 3\'----qter, on the basis of analysis of the GMCSF rearrangement in HL60 DNA. '), ('7852', 'RET_KIF5B', '', 'RET', 'KIF5B', '25773866', '16', 'malignant pleural effusion', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'The detected RET rearrangements comprised 11 (65%) KIF5B-RET and 6 (35%) CCDC6-RET fusions, including 2 novel fusion variants identified.     ///    Multiplex reverse transcription-polymerase chain reaction (RT-PCR) was used to detect KIF5B-RET and CCDC6-RET fusions from specimens of malignant pleural effusion (MPE) in patients with metastatic lung adenocarcinoma. '), ('7853', 'MLLT3_MLL', 't(9;11)(p22;q23) / t(9;11)  / ', 'MLLT3', 'MLL', '24517546', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'This study aimed to identify genes and molecular processes downstream of MLL-AF9 (alias MLL-MLLT3) which could assist to develop new targeted therapies for such leukemia with unfavorable prognosis. '), ('7854', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '21526955', '16', 'thyroid nodule;thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', '', '', '', 'The most common molecular alterations in thyroid cancer include BRAF and RAS point mutations and RET/PTC and PAX8/PPAR ? rearrangements.     ///    \"The diagnostic role of BRAF mutations has been studied most extensively, and recent studies also demonstrated a significant diagnostic utility of RAS, RET/PTC, and PAX8/PPAR ? mutations, particularly in thyroid fine-needle aspiration samples with indeterminate cytology. \"'), ('7855', 'EML4_ALK', '', 'EML4', 'ALK', '25101240', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Tumors harboring a rearranged EML4-ALK fusion oncogene are highly sensitive to therapy with ALK-targeted inhibitors. '), ('7856', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '7675545', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'A dimerization domain within PML is able to mediate the formation of PML-RAR alpha homodimers that can bind to target sequences with distinct DNA binding properties if compared with RAR alpha.(ABSTRACT TRUNCATED AT 250 WORDS). '), ('7857', 'NUT_BRD4', 't(15;19)(q13;p13) / ', 'NUT', 'BRD4', '20676058', '16', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Knockdown of BRD4-NUT released p300 and restored p53-dependent regulatory mechanisms leading to cell differentiation and apoptosis.     ///    \"Using a patient-derived cell line, we show that p300 sequestration into the BRD4-NUT foci is the principal oncogenic mechanism leading to p53 inactivation. \"    ///    \"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. \"'), ('7858', 'LHB_CGB', '', 'LHB', 'CGB', '16251463', '16', '', '', '', '', '', '', '', '', '', 'Also, this first detailed coverage of sequence diversity and structure of the LHB/CGB gene cluster will pave the way for studying the identified polymorphisms as well as potential genomic rearrangements in association with an individual\'s reproductive success..     ///    \"To shed light on these issues, we have re-sequenced the human Luteinizing Hormone/Chorionic Gonadotropin beta (LHB/CGB) cluster (19q13.32) of three population samples (Estonians, Mandenka, and Han). \"    ///    The LHB/CGB cluster consists of seven duplicated genes critical in human reproduction.     ///    \"In the LHB/CGB region, high sequence diversity, concentration of gene-conversion acceptor sites, and strong LD colocalize with peripheral genes, whereas central loci are characterized by lower variation, gene-conversion donor activity, and breakdown of LD between close markers. \"'), ('7859', 'EML4_ALK', '', 'EML4', 'ALK', '26200283', '16', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A Case of Squamous Cell Carcinoma Harboring an EML4-ALK Rearrangement that Was Unsuccessfully Treated with the ALK Inhibitor Alectinib.. '), ('7860', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '20089614', '16', 'congenital hypothyroidism', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'BRAF, RAS, and P53 mutations or PAX8/PPAR-gamma rearrangement were screened in the FVPTC.     ///    \"Neither RAS, BRAF, or P53 gene mutation nor a PAX8/PPAR-gamma rearrangement was detected in the tumor tissue. \"'), ('7861', 'RUNX1_ETO', 't(8;21)  / ', 'RUNX1', 'ETO', '22201794', '16', 'acute myeloid leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In this review, we detail the structural features, functions, and models used to study both RUNX1 and RUNX1-ETO in hematopoiesis over the past two decades..     ///    RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis..     ///    The RUNX1-ETO fusion protein is found in approximately 12% of all AML patients. '), ('7862', 'BCR_ABL1', '', 'BCR', 'ABL1', '23253862', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The incidence of co-existing BCR-ABL1 and JAK2 V617F rearrangements: implications for molecular diagnostics.. '), ('7863', 'NUT_BRD3', '', 'NUT', 'BRD3', '23463074', '16', 'squamous cell carcinoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'The rearrangements most often take the form of BRD4-NUT fusions, and in a minority of cases, BRD3-NUT or NUT-variant fusions. '), ('7864', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '24203930', '16', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Imatinib therapy in a patient with suspected chronic neutrophilic leukemia and FIP1L1-PDGFRA rearrangement.. '), ('7865', 'BCR_ABL1', '', 'BCR', 'ABL1', '24698424', '16', 'hairy cell leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We also review all published literature on HCL with BCR/ABL1 rearrangement and discuss the pathophysiology of these unusual cases.     ///    De novo hairy cell leukemia with a major BCR/ABL1 rearrangement: a case report with a literature review..     ///    \"After a thorough analysis of previous studies and the results of this patient, we speculate that a subclone evolved to have an additional genetic BCR/ABL1 rearrangement. \"    ///    \"Here we report a case of HCL expressing a BCR/ABL1 clone, which showed molecular remission of the fusion clones and achieved partial remission over nine months of cladribine therapy. \"'), ('7866', 'RET_PTC', '', 'RET', 'PTC', '22248969', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Gene alterations, such as RET mutation or RET/PTC rearrangement, are not uncommon. '), ('7867', 'RET_PTC', '', 'RET', 'PTC', '17627253', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The results of studies, focused on the correlation between tumour genotype and the histopathological type of tumour, involving cases of both RET/PTC and Trk rearrangements in PTC, are not unequivocal. '), ('7868', 'PSI4RAC1_RAC1', '', 'PSI4RAC1', 'RAC1', '15474301', '16', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Neither RT-PCR with pseudogene specific restriction enzymes, nor the sequencing of 130 cDNA clones from benign and malignant breast tissue and cell lines, detected the transcription of any of the Rac1 pseudogenes (psi2Rac1-psi4Rac1).     ///    \"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. \"    ///    Isolation and characterization of Rac1 pseudogenes (psi1Rac1-psi4Rac1) in the human genome.. '), ('7869', 'DMD_BMD', '', 'DMD', 'BMD', '9225508', '16', 'Duchenne and Becker muscular dystrophy\r\r', 'PCR', '', '', '', '', '', '', '', ' The dystrophin gene deletion in 53 Duchenne and 21 Becker muscular dystrophy (DMD/BMD) male patients was analyzed by DNA test using multiplex polymerize chain reaction (M-PCR) in Croatian population. '), ('7870', 'P53_CBP', 't(12;22) (q13;q12) / ', 'P53', 'CBP', '11709699', '16', 'clear cell sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Here, we demonstrate that EWS-ATF-1 represses p53/CBP-mediated trans-activation function. '), ('7871', 'EML4_ALK', '', 'EML4', 'ALK', '25096400', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Sensitivity of the H3122 NSCLC cell line (EML4-ALK rearrangement) to ALK inhibitors (crizotinib or alectinib) was investigated during a normoxic or hypoxic state using an MTT assay.     ///    \"However, some patients with EML4-ALK rearrangements respond poorly to crizotinib. \"    ///    Our findings indicate that hypoxia induces resistance to ALK inhibitors in NSCLC with an EML4-ALK rearrangement via the EMT. '), ('7872', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '18088233', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Frequent genetic alterations in follicular carcinomas, the second most common type of thyroid malignancy, include RAS mutations and PAX8-PPAR gamma rearrangement. '), ('7873', 'RET_PTC', '', 'RET', 'PTC', '18948674', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this study, we analyzed the mutational status of RAP1 gene in 36 Russian patients with PTCs without RET/PTC rearrangement, BRAF mutation or RAS mutation. '), ('7874', 'RET_PTC', '', 'RET', 'PTC', '10646664', '16', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', ' The prevalence of RET/PTC rearrangement in papillary thyroid carcinomas has been found to vary widely in different populations.     ///    \"However, we could not find RET/PTC-3 rearrangement in any patients (0/31). \"    ///    Detection of RET/PTC oncogene rearrangements in Korean papillary thyroid carcinomas..     ///    \"In conclusion, we report RET/PTC rearrangements in 4 of 31, (12.9%) Korean patients with papillary thyroid carcinomas, a higher prevalence than previously reported in this population.. \"    ///    \"We have performed this study in order to examine the prevalence of RET/PTC-1, RET/PTC-2, and RET/PTC-3 rearrangements in Korean papillary thyroid carcinomas, and to ascertain its clinical relevance. \"    ///    \"In addition, there are some disagreements about the correlation of RET/PTC expression with clinical aggressiveness. \"    ///    \"We identified two tumors containing RET/PTC-1 (2/31, 6.5%) and two containing RET/PTC-2 (2/31, 6.5%). \"'), ('7875', 'SYT4_SSX1', 'p11.2;q11.2 / ', 'SYT4', 'SSX1', '19837269', '16', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'SYT4-SSX1 is the most common fusion subtype, present in approximately two thirds of the cases, followed by SYT4-SSX2 and, very rarely, SYT4-SSX4. '), ('7876', 'RET_PTC1', '', 'RET', 'PTC1', '23888303', '16', 'follicular thyroid carcinoma;thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Ras and BRAF mutations, RET/PTC1, RET/PTC3, and PAX8/PPAR? rearrangements were analyzed. '), ('7877', 'RET_PTC', '', 'RET', 'PTC', '22503804', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'It is indeed now known that BRAF and RAS mutations and RET/PTC and PAX8/PPAR? rearrangements account for the majority of molecular alterations detected in differentiated thyroid cancers.     ///    \"Testing for a \"\"panel of mutations\"\" (BRAF, RAS, RET/PTC and PAX8/PPAR?) improves the performance, detecting papillary carcinomas with non-classic histology. \"'), ('7878', 'RET_PTC', '', 'RET', 'PTC', '17954023', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC-1 and RET/PTC-3 were detected in 126 PTCs using reverse transcription-polymerase chain reaction (RT-PCR) and direct sequencing.     ///    High frequency of level II-V lymph node involvement in RET/PTC positive papillary thyroid carcinoma..     ///    The RET/PTC positive patients should receive more attention to lateral neck in the management of PTC..     ///    RET/PTC-1 positive patients were more likely to suffer from Hashimoto\'s thyroiditis simultaneously (P=0.02) while RET/PTC-3 positive patients had a higher frequency of extrathyroidal extension (P<0.01) and advanced T classification (P<0.01).     ///    RET/PTC-1 and RET/PTC-3 are associated with different clinical pathological characteristics but not with lymph node involvement. '), ('7879', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15272927', '16', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'The expression of PAX8-PPARgamma rearrangements is not specific to follicular thyroid carcinoma.. '), ('7880', 'P53_CHK2', 't(15;17)  / ', 'P53', 'CHK2', '16835227', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, by fusing PML with RARalpha, the APL cells appear to have achieved functional suppression of Chk2 compromising the Chk2-p53 apoptotic pathway.. '), ('7881', 'EML4_ALK', '', 'EML4', 'ALK', '26958507', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We also present ongoing studies that aim to address potential causes for mortality in the dose escalation arm through adaptive or proton therapy, and are also leveraging additional concurrent systemic agents such as tyrosine kinase inhibitors (TKIs) for EGFR-activating mutations or EML4-ALK rearrangements, and poly (ADP-ribose) polymerase (PARP) inhibitors. '), ('7882', 'RET_PTC1', '', 'RET', 'PTC1', '19785523', '16', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'one tissue specimen with RET/PTC1 rearrangement and one with RET/PTC3 rearrangement were used as positive samples. '), ('7883', 'ZMYM2_FGFR1', '', 'ZMYM2', 'FGFR1', '22236811', '16', '', '', 'Kinase', '', '', '', '', 'KB', '', 'Submicroscopic deletion of FGFR1 gene is recurrently detected in myeloid and lymphoid neoplasms associated with ZMYM2-FGFR1 rearrangements: a case study.. '), ('7884', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '24266818', '16', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', ' TMPRSS2-ERG is a recurrent rearrangement specific for prostate cancer, leading to the overexpression of a truncated ERG protein product that is amenable to immunohistochemical detection. '), ('7885', 'CFL1_ADF', '', 'CFL1', 'ADF', '24464292', '16', '', '', '', '', '', '', '', '', '', 'This work is the first to directly link an ADF/cofilin to the cytoskeletal rearrangements elicited directly after pathogen perception in plant or mammalian cells. '), ('7886', 'BCL2_IGH', '', 'BCL2', 'IGH', '16956827', '16', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'In a total of 170 BM samples obtained at diagnosis or during follow-up, DAP-kinase hypermethylation and the bcl2/IgH rearrangement gave concordant results in 67% of samples (48% both positive, 19% both negative). '), ('7887', 'P65_P50', 't(11;18)(q21;q21) / ', 'P65', 'P50', '15982633', '16', 'MALT lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Moreover, supershift experiments indicated that these elements are recognized by the NF-kappaB p50/p65 heterodimer. '), ('7888', 'RET_PTC1', '', 'RET', 'PTC1', '12444552', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC1 is a rearranged form of the RET proto-oncogene detected in human papillary thyroid carcinomas.     ///    \"The roles of phosphotyrosines-294, -404, and -451 in RET/PTC1-induced thyroid tumor formation.. \"    ///    \"Signal transduction pathways mediated by phosphotyrosine 294, 404, or 451 in RET/PTC1 have been shown to be critical for RET-induced transforming activity in vitro. \"    ///    \"This indicates that signaling pathways mediated by pY294, pY404, and pY451 do play a role in RET/PTC1-induced tumor formation. \"    ///    \"However, as tumors are still able to form in some mice within these three mutant transgenic groups, it indicates that none of the signaling pathways mediated by pY294, pY404, or pY451, are solely essential for RET/PTC1-induced tumor formation.. \"    ///    \"To investigate the contribution of these signaling pathways in RET/PTC1-induced thyroid tumor formation in vivo, we generated and characterized transgenic mice expressing thyroid-targeted RET/PTC1 mutants carrying a site-directed mutation changing tyrosine (Y) to phenylalanine (F) at the residue 294, 404, or 451. \"    ///    We previously showed that thyroid-targeted expression of RET/PTC1 leads to thyroid tumor formation in Tg-PTC1 transgenic mice. '), ('7889', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '21569007', '16', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Native ETV6 deletions accompanied by ETV6-RUNX1 rearrangements are associated with a favourable prognosis in childhood acute lymphoblastic leukaemia: a candidate for prognostic marker.. '), ('7890', 'TRIC_CCT', 't(8;21)(q22;q22) / ', 'TRIC', 'CCT', '26706127', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Chaperonin TRiC/CCT Modulates the Folding and Activity of Leukemogenic Fusion Oncoprotein AML1-ETO.. '), ('7891', 'EDNRB _EDN3', '', 'EDNRB ', 'EDN3', '12086152', '16', 'hirschsprung disease', '', '', '', '', 'Receptor', '', '', '', 'Mutations of the genes involved in the receptor tyrosine kinase RET (REarranged during Transfection) (RET)-glial cell line-derived neurotrophic factor (GDNF) and/or endothelin 3 (EDN3)-endothelin receptor-B (EDNRB) signaling pathway have been found in some of HSCR patients. '), ('7892', 'IGH_BCL2', '', 'IGH', 'BCL2', '22585168', '16', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Both patients harbored identical BCL2/IGH rearrangements also present in 1 in 2,000 cells in the donor lymphocyte infusion, and the same V(D)J rearrangement, which underwent somatic hypermutation both before and after clonal divergence. '), ('7893', 'RET_PTC', '', 'RET', 'PTC', '22123232', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Various authors have successfully utilized molecular panels on cytologic specimens including mutations and rearrangements such as RAS and RET/PTC. '), ('7894', 'TIAM1_RAC1', '', 'TIAM1', 'RAC1', '15379540', '16', '', '', '', '', '', '', '', '', '', 'Together, these observations provide experimental evidence of a previously proposed mechanism of GEF-mediated nucleotide exchange based on the Rac1-Tiam1 complex structure, with SopE/E2 flexibility, particularly in the interbundle loops, enabling conformational rearrangements of the nucleotide binding region of Cdc42 through an induced fit type of binding. '), ('7895', 'MLL1_ALL1', '', 'MLL1', 'ALL1', '14970849', '16', '', '', '', '', '', '', '', '', '', ' Rearrangements of the ALL-1/MLL1 gene underlie the majority of infant acute leukaemias, as well as of therapy-related leukaemias developing in cancer patients treated with inhibitors of topoisomerase II, such as VP16 and doxorubicin.     ///    \"ALL-1/MLL1, a homologue of Drosophila TRITHORAX, modifies chromatin and is directly involved in infant acute leukaemia.. \"'), ('7896', 'E47_E12', '', 'E47', 'E12', '15713784', '16', '', '', '', '', '', '', '', '', '', 'one of these shows the alternative processing of transcripts that identifies it as the ortholog of the E12/E47-encoding mammalian E2A gene, whereas the second Takifugu E2A gene has no predicted alternative splice products. '), ('7897', 'RET_PTC3', '', 'RET', 'PTC3', '22323563', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The predominant rearrangement type was RET/PTC3, which is characteristic of human thyroid cancer arising early after Chernobyl-related radioactive iodine exposure.     ///    \"In summary, we establish a model of DSB induction by RE and report for the first time the formation of carcinogenic chromosomal rearrangements, predominantly RET/PTC3, as a result of DSB produced by RE. \"'), ('7898', 'RET_PTC', '', 'RET', 'PTC', '17464312', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The T1799A missense mutation in exon 15 of the BRAF gene and RET/PTC rearrangement have been identified as the dominant genetic tumour initiation events in the pathogenesis of PTC leading to a constitutive activation of the RAS-RAF-MAPK pathway.     ///    All seven samples expressed the RET tyrosine kinase domain but lacked its extracellular domain potentially suggesting the existence of rare types of RET/PTC rearrangement in the four remained cases of diffuse sclerosing variant of PTC.     ///    Diffuse sclerosing variant of papillary thyroid carcinoma: lack of BRAF mutation but occurrence of RET/PTC rearrangements..     ///    \"In order to elucidate the pathogenesis of diffuse sclerosing variant of PTC, the prevalence of BRAF mutation and RET/PTC were determined by RT-polymerase chain reaction and DNA-sequence analysis in tumour samples of seven patients with this variant (all female, age range 15-61 years, mean 33.3 years) without prior radiation exposure. \"    ///    \"Regarding this subtype, our study confirmed the paradigm of a mutual exclusivity between RET/PTC and BRAF in PTC. \"    ///    \"RET/PTC1 (two out of seven) and RET/PTC3 (one out of seven), which have been shown in large PTC series to comprise together more than 90% of RET/PTC types, were found in <50% of the cases investigated. \"'), ('7899', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20972453', '16', 'leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most common rearrangement is FIP1L1-PDGFRA (FP). '), ('7900', 'DMD_BMD', '', 'DMD', 'BMD', '1864612', '16', '', 'PCR', '', '', '', '', '', '', '', ' The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had deletions in the dystrophin gene.     ///    Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.. '), ('7901', 'MYC_BCL2', '', 'MYC', 'BCL2', '23892979', '16', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This review summarizes the literature on the impact of MYC rearrangement, as well as MYC/BCL2 double hit, in patients with DLBCL and BCL-U.     ///    \"These subsets have been associated with a poor patient outcome, with the data being strongest for MYC/BCL2 double hit lymphomas. \"'), ('7902', 'RET_PTC1', '', 'RET', 'PTC1', '15302866', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC1 is a rearranged form of the RET tyrosine kinase commonly seen in papillary thyroid carcinomas.     ///    \"Finally, the ability of 17-AAG to increase radioiodide accumulation is not restricted to thyroid cells expressing RET/PTC1. \"    ///    \"Inhibition of heat shock protein 90, a novel RET/PTC1-associated protein, increases radioiodide accumulation in thyroid cells.. \"    ///    Inhibition of hsp90 function with 17-allylamino-17-demothoxygeldanamycin (17-AAG) reduces RET/PTC1 protein levels.     ///    \"It has been shown that RET/PTC1 decreases expression of the sodium/iodide symporter (NIS), the molecule that mediates radioiodide therapy for thyroid cancer. \"    ///    \"Using proteomic analysis, we identify hsp90 and its co-chaperone p50cdc37 as novel proteins associated with RET/PTC1. \"'), ('7903', 'ETO_AML1', 't(8;21)  / t(8;21) / ', 'ETO', 'AML1', '25050888', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Treatment with FTY720 led to the elimination of AML1-ETO oncoprotein and caused cell cycle arrest. '), ('7904', 'RET_PTC', '', 'RET', 'PTC', '25427145', '16', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'None of the cell lines have RET/PTC rearrangements. '), ('7905', 'RET_PTC', '', 'RET', 'PTC', '19374919', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'oncogenic RET mutations in medullary thyroid carcinoma or RET/PTC rearrangements in papillary thyroid carcinoma). '), ('7906', 'EML4_ALK', '', 'EML4', 'ALK', '22282308', '16', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The majority of lung adenocarcinoma patients with epidermal growth factor receptor- (EGFR) mutated or EML4-ALK rearrangement-positive tumors are sensitive to tyrosine kinase inhibitors. '), ('7907', 'EML4_ALK', '', 'EML4', 'ALK', '21767331', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In the present study, we report on three cases harboring EML4-ALK rearrangement who were enrolled in the trial (A8081001, NCT00585195).     ///    It has been demonstrated that NSCLC driven by EML4-ALK is strongly addicted to this fusion-type oncokinase. '), ('7908', 'RET_PTC', '', 'RET', 'PTC', '25629769', '16', 'thyroid nodule;thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PAX8/PPARG and RET/PTC rearrangements were detected by real-time quantitative polymerase chain reaction, while BRAF and RAS mutations were detected by pyrosequencing. '), ('7909', 'BCR_ABL1', '', 'BCR', 'ABL1', '25872147', '16', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'RNA samples were extracted from 8 cell line mixtures expressing various BCR-ABL1 transcript levels.     ///    Quality of RNA was consistent between laboratories and met the criteria requested for quantification of BCR-ABL1 transcripts.     ///    \"Therefore, we evaluated the minicapsule-based innovative process developed by Imagene (Evry, France) for implementing DNA and RNA controls designed for clonality assessment of lymphoproliferations and BCR-ABL1 mRNA quantification, respectively. \"'), ('7910', 'NUP98_HOXA9', '', 'NUP98', 'HOXA9', '14561764', '16', 'leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Co-transfection experiments using a luciferase reporter linked to the promoter of one of the Nup98-HOXA9 target genes confirmed up-regulation at the transcriptional level by Nup98-HOXA9 but not by either HOXA9 or Nup98.     ///    \"Of the 102 Nup98-HOXA9 target genes identified, 92 were up-regulated, and only 10 were down-regulated, suggesting a transcriptional activation function. \"    ///    These data indicate that Nup98-HOXA9 is an aberrant transcription factor whose activity depends on the HOXA9 DNA binding domain but has a stronger and wider transcriptional effect than HOXA9.     ///    The oncogene Nup98-HOXA9 induces gene transcription in myeloid cells..     ///    \"To understand the mechanisms by which Nup98-HOXA9 causes AML, we expressed it in myeloid cells and identified its target genes using high density oligonucleotide microarrays. \"    ///    \"The prototype of these fusions, Nup98-HOXA9, is associated with human AML and induces AML in mouse models. \"'), ('7911', 'FCGR3_FCGR2', '', 'FCGR3', 'FCGR2', '23261299', '16', 'systemic lupus erythematosus', '', '', '', '', '', '', '', '', 'Previous studies have suggested mechanisms for structural rearrangements at the FCGR2/FCGR3 locus and have proposed mechanisms whereby altered FCGR3B copy number predisposes to autoimmunity, but the high degree of sequence similarity between paralogous segments has prevented precise definition of the molecular events and their functional consequences.     ///    The five FCGR2/FCGR3 genes are arranged across two highly paralogous genomic segments on chromosome 1q23.     ///    \"To pursue the genomic pathology associated with FCGR3B copy-number variation, we integrated sequencing data from fosmid and bacterial artificial chromosome clones and sequence-captured DNA from FCGR3B-deleted genomes to establish a detailed map of allelic and paralogous sequence variation across the FCGR2/FCGR3 locus. \"'), ('7912', 'BCR_ABL1', '', 'BCR', 'ABL1', '19901533', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In a recent study on 111 cases of pre-B cell-derived human ALL, we found that ALL cells carrying a BCR-ABL1-gene rearrangement lack expression of a functional pre-B cell receptor in virtually all cases. '), ('7913', 'RET_PTC', '', 'RET', 'PTC', '19766698', '16', 'thyroid cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Several types of rearrangement known to occur in thyroid cancer, including RET/PTC, NTRK1 and BRAF/AKAP9, are more common in radiation-associated thyroid tumors and RET/PTC can be induced experimentally by exposing human thyroid cells to ionizing radiation.     ///    \"In this review, the molecular mechanisms of generation of RET/PTC and other chromosomal rearrangements are discussed, with the emphasis on the role of nuclear architecture and interphase gene proximity in the generation of intrachromosomal rearrangements in thyroid cells.. \"'), ('7914', 'RET_PTC', '', 'RET', 'PTC', '21411555', '16', 'thyroid nodule\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'High growth rate of benign thyroid nodules bearing RET/PTC rearrangements..     ///    \"After 36 months of follow-up, the RET/PTC+ group (n = 16) reached a volume higher than the RET/PTC- group (n = 90) (5.04 ?? 2.67 vs. \"    ///    The aim of the present work was to evaluate whether RET/PTC in benign thyroid nodules associates with a different nodular growth rate.     ///    The difference between the mean baseline nodular volume of the RET/PTC- and RET/PTC+ nodules was not significant.     ///    \"The RET/PTC oncogene has been documented in a fraction of benign thyroid nodules, besides papillary thyroid carcinomas, and it might therefore influence their growth. \"    ///    RET/PTC was present in 19 nodules. '), ('7915', 'CFL1_ADF', '', 'CFL1', 'ADF', '18177666', '16', '', '', '', '', '', '', '', '', '', ' Coronins are F-actin-binding proteins that are involved, in concert with Arp2/3, Aip1, and ADF/cofilin, in rearrangements of the actin cytoskeleton. '), ('7916', 'BCR_ABL1', '', 'BCR', 'ABL1', '20082857', '16', 'precursor B cell leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ABL1 gene deletion without BCR/ABL1 rearrangement in a young adolescent with precursor B-cell acute lymphoblastic leukemia: clinical study and literature review..     ///    \"however, it is plausible that ABL1 deletion without BCR/ABL1 rearrangement is a rare but recurrent genetic abnormality in precursor B-ALL patients. \"    ///    \" Entire ABL1 gene deletion without BCR/ABL1 rearrangement is a rare phenomenon, with only four cases previously reported. \"    ///    Here we describe a fifth case of ABL1 deletion without BCR/ABL1 rearrangement in an adolescent patient with precursor B-cell lymphoblastic leukemia (B-ALL) and review the relevant literature. '), ('7917', 'RET_PTC', '', 'RET', 'PTC', '26486481', '16', 'autoimmune thyroiditis', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'For example: RET/PTC rearrangements could be more often found in carcinomas associated with CLT, but this mutation could be found in benign lesions such as CLT, as well. '), ('7918', 'RCSD1_ABL2', '', 'RCSD1', 'ABL2', '25098428', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia.. '), ('7919', 'HSP70_GATA', 't(9,22)  /  / ', 'HSP70', 'GATA', '15155749', '16', 'chronic myeloid leukemia', '', '', '', '', '', '', '', '', 'We suggest that down-regulation of the GATA-Hsp70 pathway may be useful in the treatment of chemotherapy-resistant CML.. '), ('7920', 'RET_PTC', '', 'RET', 'PTC', '20738253', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular studies have identified activation of the RET/PTC rearrangement-induced MAPK signaling pathway as the driving force in the development of PTC in the context of HT. '), ('7921', 'MEK_ERK', '', 'MEK', 'ERK', '21725210', '16', 'thyloid cancer\r\r', '', '', '', '', '', '', '', '', 'Immunoblotting revealed effective blocking of MEK/ERK pathway in RET/PTC rearrangement cells, but not in BRAF mutated cells. '), ('7922', 'CDC2_PLZF', 't(11;17)(q23;q21) / ', 'CDC2', 'PLZF', '10497277', '16', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A PLZF-cdc2 interaction was further demonstrated by co-immunoprecipitation and a biotin-streptavidin pull-down assay. '), ('7923', 'LPS_LBP', '', 'LPS', 'LBP', '18402614', '16', '', '', '', '', '', '', '', '', '', 'In addition, the PI3K/Akt signaling is thought to partially mediate the LPS/LBP-stimulated collagen phagocytic pathway, which may be dependent on actin cytoskeletal rearrangement..     ///    \"The LPS-activated collagen phagocytic process was enhanced in the presence of the soluble form of CD14 (sCD14) or LPS-binding protein (LBP), while the LPS/LBP treatment activated Akt and induced actin reorganization. \"    ///    \"Furthermore, these LPS/LBP-induced effects were partially suppressed by adding phosphatidyl-inositol-3 kinase (PI3K) inhibitors. \"'), ('7924', 'PDGFB_COL1A1', '', 'PDGFB', 'COL1A1', '22335595', '16', 'dermatofibrosarcoma protuberans;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Pseudocystic dermatofibrosarcoma protuberans: report of two cases and demonstration of COL1A1-PDGFB rearrangement..     ///    \"Molecular analysis of one of the cases showed a characteristic COL1A1-PDGFB rearrangement in both the main tumor and also in the cells lining the pseudocystic portion of the tumor, confirming the diagnosis and indicating that the lining represented a component of the proliferation. \"'), ('7925', 'RET_PTC', '', 'RET', 'PTC', '15356020', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Using the same methodology, we have analyzed 34 post-Chernobyl PTC and detected RET/PTC rearrangements in 14 (41%) and BRAF mutations (V600E) in four (12%). '), ('7926', 'TIAM1_RAC1', '', 'TIAM1', 'RAC1', '23307871', '16', '', '', '', '', '', '', '', '', '', 'These phenomena were accompanied by Tiam1/Rac1-dependent cytoskeletal rearrangement. '), ('7927', 'C11_C10', '', 'C11', 'C10', '11983536', '16', '', '', '', '', '', '', '', '', '', ' Reduction of 5 alpha-hydroxy-7 beta,9 alpha,10 beta-triacetoxy-4(20), 11(12)-taxadien-13-one 1 with activated zinc in glacial acetic acid led to rearranged products, including compounds with double bonds at C3-C4, C10-C11 or with an epoxide at C11-C12. '), ('7928', 'HMGB1_CXCL12', '', 'HMGB1', 'CXCL12', '22370717', '16', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Fluorescence resonance energy transfer data show that the HMGB1-CXCL12 heterocomplex promotes different conformational rearrangements of CXCR4 from that of CXCL12 alone. '), ('7929', 'VCFS_DGS', '', 'VCFS', 'DGS', '10928854', '16', '', '', '', '', '', '', '', '', '', 'Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.. '), ('7930', 'ACTB_TRIC', '', 'ACTB', 'TRIC', '17939680', '16', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The action of GroEL on bound flourescein-labeled beta-actin was characterized, and the structural rearrangement was compared to the case of the beta-actin-TRiC complex, employing the homo fluorescence resonance energy transfer methodology previously used [Villebeck, L., Persson, M., Luan, S.-L., Hammarstr?m, P., Lindgren, M., and Jonsson, B.-H.     ///    \"It can be concluded that the specific and directed rearrangement of the beta-actin structure, seen in the natural beta-actin-TRiC system, is vital for guiding beta-actin to the native state.. \"'), ('7931', 'RET_PTC3', '', 'RET', 'PTC3', '21674964', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'At the same time the frequency of RET/PTC3 rearrangements with the increasing both the latency period and age of patients, significantly decreased.     ///    \"It was established that induction of both, RET/PTC1 and RET/PTC3 rearrangements was present only in carcinoma samples. \"    ///    \" A comparative analysis of the expression of both, RET/PTC1 and RET/PTC3 oncogenes in papillary thyroid carcinomas (PTC) of patients from different age groups was carried out. \"    ///    \"In conclusion, our data can evidence for the presence of correlation between the age of patients, latency period and induction of RET/PTC3 oncogenes.. \"'), ('7932', 'BCR_ABL1', '', 'BCR', 'ABL1', '19175693', '16', 'essential thrombocythemia;polycythemia vera;primary myelofibrosis;systemic mastocytosis', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Therapeutically validated oncoproteins in myeloproliferative neoplasms (MPN) include BCR-ABL1 and rearranged PDGFR proteins.     ///    \"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. \"'), ('7933', 'ERBB3_ERBB1', '', 'ERBB3', 'ERBB1', '23308242', '16', 'breast cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Investigation of the underlying mechanism by the use of protein kinase inhibitors and co-immunoprecipitation studies revealed that chronic Morphine treatment results in rearrangement of the ErbB signalling network leading to dissociation of ERK1/2 from Akt signalling and a switch from ErbB1/ErbB3 to ErbB1/ErbB2-dependent cell growth. '), ('7934', 'TEL_AML1', '', 'TEL', 'AML1', '23242576', '16', '', '', '', '', '', '', '', '', '', 'MRD status was the strongest predictor of outcome with 5 year EFS rates greater that 90% seen in those patients with low-risk MRD and this was associated with TEL/AML1 rearrangement, high hyperdiploidy (HH) karyotype and female gender.     ///    \"in the late 1960s were most likely composed of low-risk MRD, TEL/AML1 and HH patients.. \"'), ('7935', 'CALM_AF10', '', 'CALM', 'AF10', '17097559', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Here we demonstrate that the leukemia-propagating cell in murine CALM/AF10-positive AML differs from normal HSCs by B220 surface expression and immunoglobulin heavy chain rearrangement.     ///    Acute myeloid leukemia is propagated by a leukemic stem cell with lymphoid characteristics in a mouse model of CALM/AF10-positive leukemia.. '), ('7936', 'TK2_BEAN', '', 'TK2', 'BEAN', '20723845', '16', 'cerebellar dysfunction;spinocerebellar ataxia', '', 'Kinase', '', '', '', '', '', '', 'All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2). '), ('7937', 'PAX8_PPARG', '', 'PAX8', 'PPARG', '20578891', '16', 'anaplastic thyroid carcinoma', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'These include PIK3CA mutations and genomic amplification/copy gain, Ras mutations, PTEN mutations, RET/PTC and PPARgamma/Pax8 rearrangements, as well as amplification/copy gain of PIK3CB, PDK1, Akt, and various receptor tyrosine kinase genes. '), ('7938', 'BCR_ABL1', '', 'BCR', 'ABL1', '24060288', '16', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of the 4 patients with evidence of MRD in peripheral blood, 2 had negative and 2 had positive BCR-ABL1 colonies. '), ('7939', 'RARA_PML', '', 'RARA', 'PML', '24464319', '16', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Class II mutations: 24 (17.9?%), 19 (14.2?%), and 9 (6.7?%) children had PML-RARA, RUNX1-RUNX1T1, and CBFB-MYH11 transcripts, respectively. '), ('7940', 'PAX7_FKHR', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / t(2;13)  / t(2;13) / t(1;13) / ', 'PAX7', 'FKHR', '9405676', '16', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'The chimeric proteins expressed from these rearrangements, PAX3-FKHR and PAX7-FKHR, respectively, are potent transcriptional activators. '), ('7941', 'RET_PTC1', '', 'RET', 'PTC1', '12499271', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ZD6474 prevented the growth of two human PTC cell lines that carry spontaneous RET/PTC1 rearrangements. '), ('7942', 'PML_MDM2', '', 'PML', 'MDM2', '12915590', '16', '', '', '', 'Oncogene', '', '', '', '', '', 'UV-radiation caused rapid rearrangements of PML nuclear bodies and promoted PML-p53 and PML-Mdm2 complex formation, coinciding with p53 stabilization and preceding p53-Mdm2 interaction suggesting temporally distinct complexes. '), ('7943', 'TRP_INV', '', 'TRP', 'INV', '23649991', '16', '', '', '', '', '', '', '', '', '', 'Inverted repeats facilitated this complex rearrangement, which shares common genomic organization with the recently described duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) events.     ///    \"Taking into consideration (1) the presence of a predicted PRDM9 binding site in the near vicinity of the junction involving two inverted L1 elements and (2) the inherent properties of X-Y chromosome recombination during male meiosis, we proposed an alternative two-step model for the generation of this X-linked DMD DUP-TRP/INV-DUP event. \"'), ('7944', 'C40_C33', '', 'C40', 'C33', '25905567', '16', '', '', '', '', '', '', '', '', '', 'The C33-C40 segment was synthesized by the Kobayashi aldol reaction followed by epoxidation and Jung rearrangement of epoxide 9, while the C25-C32 segment was constructed by the Kobayashi aldol reaction followed by epoxidation and the epoxy-opening rearrangement reaction of epoxide 13. '), ('7945', 'RET_PTC1', '', 'RET', 'PTC1', '12057919', '16', 'thyroid nodule;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No RET/PTC1 or RET/PTC3 rearrangements were detected in areas of the same tumors that lacked the cytological alterations.     ///    RET/PTC1 or RET/PTC3 were detected in microscopic foci with papillary carcinoma features in most of the thyroid nodules (five of seven cases).     ///    Assessment of RET/PTC oncogene activation and clonality in thyroid nodules with incomplete morphological evidence of papillary carcinoma: a search for the early precursors of papillary cancer.. '), ('7946', 'RAC1_EPAC1', '', 'RAC1', 'EPAC1', '20054824', '16', '', '', '', '', '', '', '', '', '', 'Extracellular beta-nicotinamide adenine dinucleotide (beta-NAD) promotes the endothelial cell barrier integrity via PKA- and EPAC1/Rac1-dependent actin cytoskeleton rearrangement.. '), ('7947', 'TAL1_LMO1', '', 'TAL1', 'LMO1', '15054041', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'TAL1/LMO1 deregulation is more frequent in alphabeta-lineage T-ALL, when it is predominantly due to SIL-TAL1 rearrangements in children but to currently unknown mechanisms in adolescents and adults. '), ('7948', 'RET_PTC3', '', 'RET', 'PTC3', '19785523', '16', 'thyloid cancer\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'one tissue specimen with RET/PTC1 rearrangement and one with RET/PTC3 rearrangement were used as positive samples. '), ('7949', 'NR2A_NR1', '', 'NR2A', 'NR1', '18184566', '16', '', '', '', '', '', '', '', '', '', 'Structural rearrangements of NR1/NR2A NMDA receptors during allosteric inhibition.. '), ('7950', 'PDH_E3BP', '', 'PDH', 'E3BP', '16843025', '16', 'pyruvate dehydrogenase deficiency', 'PCR', '', '', '', '', '', '', '', ' We report here the molecular analysis of a pyruvate dehydrogenase E3-binding protein (PDH-E3BP) deficiency in a new patient, born to first cousin parents. '), ('7951', 'IGH_BCL2', '', 'IGH', 'BCL2', '24334589', '16', 'follicular lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Bone marrow aspirates and biopsied specimens showed diffuse invasion of small cleaved atypical lymphoid cells that were positive for CD10, 20, bcl2, immunoglobulin lambda and Bcl-2-IgH rearrangement. '), ('7952', 'RARA_PML', '', 'RARA', 'PML', '22915647', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Based on Cox regression and Kaplan-Meier analyses, 5 distinct prognostic subgroups were identified: (1) very favorable: PML-RARA rearrangement (n = 29) or CEPBA double mutations (n = 42.     ///    \"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. \"'), ('7953', 'RET_PTC', '', 'RET', 'PTC', '22745248', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The genetic profile of PTC changed over the last 15 yr, with a significant decrease in the prevalence of RET/PTC rearrangements and an increase in BRAF(V600E) mutations.     ///    \"In particular, the frequency of RET/PTC rearrangements decreased from 1996-2010, occurring in 33 of 100 (33%) of the patients in group 1, 26 of 148 (17%) in group 2, and 15 of 153 (9.8%) in group 3. \"'), ('7954', 'MET_HGF', '', 'MET', 'HGF', '25992382', '16', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Abnormal MET-HGF signaling pathway activation can occur via different mechanisms, including HGF and/or MET overexpression, MET gene amplification, mutations or rearrangements. '), ('7955', 'TEL_AML1', '', 'TEL', 'AML1', '14633779', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Seven distinct leukemia subtypes were identified representing known leukemia subtypes including: BCR-ABL, E2A-PBX1, TEL-AML1, rearrangements in the MLL gene, hyperdiploid karyotype (i.e., > 50 chromosomes), and T-ALL as well as a new leukemia subtype. '), ('7956', 'RET_PTC', '', 'RET', 'PTC', '10196674', '16', 'papillary carcinoma;thyloid cancer;follicular adenoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements are found in 60-80% of papillary carcinomas and in 45% of adenomas occurring after radiation exposure. '), ('7957', 'TEF_HLF', 't(17;19) / ', 'TEF', 'HLF', '8639829', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', '', '', '', 'The TEF/HLF activation domain (THAD) has a predicted helical secondary structure, but shares no sequence homology with previously reported TADs. '), ('7958', 'BCR_ABL1', '', 'BCR', 'ABL1', '24845374', '16', 'chronic myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'There should be no dysplasia, monocytosis, molecular evidence of BCR-ABL1, PDGFRA, PDGFRB, or FGRF1 rearrangements and no identifiable cause for physiologic neutrophilia or, if present, demonstration of myeloid clonality. '), ('7959', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '12866375', '16', 'thyroid carcinoma;papillary carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'ret/PTC rearrangements are common in classic papillary thyroid carcinoma (PTC) and PAX8-PPAR gamma and ras mutations in follicular thyroid carcinoma.     ///    No PAX8-PPAR gamma was found in either group. '), ('7960', 'SIL_SCL', '', 'SIL', 'SCL', '21573616', '16', 'T ALL\r\r', '', '', '', '', '', '', '', '', 'We show in this study that although the overall frequency of SCL/SIL rearrangements in T-ALL is similar to the Western countries this is at the expense of increased type A rearrangements. '), ('7961', 'PEBP2_AML1', '', 'PEBP2', 'AML1', '9199349', '16', '', 'PCR', '', '', '', '', '', '', '', ' The gene AML1/PEBP2 alphaB encodes the alpha subunit of transcription factor PEBP2/CBF and is essential for the establishment of fetal liver hematopoiesis.     ///    A novel transcript encoding an N-terminally truncated AML1/PEBP2 alphaB protein interferes with transactivation and blocks granulocytic differentiation of 32Dcl3 myeloid cells.. '), ('7962', 'IGH_BCL2', '', 'IGH', 'BCL2', '19133977', '16', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BCL2/IGH rearrangements were found in three cases. '), ('7963', 'ERBB2_ERBB1', '', 'ERBB2', 'ERBB1', '23308242', '16', 'breast cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Investigation of the underlying mechanism by the use of protein kinase inhibitors and co-immunoprecipitation studies revealed that chronic Morphine treatment results in rearrangement of the ErbB signalling network leading to dissociation of ERK1/2 from Akt signalling and a switch from ErbB1/ErbB3 to ErbB1/ErbB2-dependent cell growth. ');
INSERT INTO `ChimerPub_dump` VALUES ('7964', 'RET_PTC', '', 'RET', 'PTC', '11298625', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'in only three was this explained by expression of a RET/PTC rearrangement.     ///    Sixty-one PTCs were analysed for expression of RET and the oncogenes RET/PTC1-4 by polymerase chain reaction of complementary DNA.     ///    \"One tumour expressed RET/PTC3, one a variant of RET/PTC3, and one RET/PTC1 and WT-RET simultaneously. \"'), ('7965', 'PAX3_FOXO1A', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX3', 'FOXO1A', '17954266', '16', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Previous studies have suggested that the expression of PAX7-FOXO1A is copy-number dependent, but that of PAX3-FOXO1A is not, which may be due to a weaker PAX7 than PAX3 promoter. '), ('7966', 'PAX7_FOXO1A', 't(2;13)(q35;q14) / t(1;13)(p36;q14) / ', 'PAX7', 'FOXO1A', '17954266', '16', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Previous studies have suggested that the expression of PAX7-FOXO1A is copy-number dependent, but that of PAX3-FOXO1A is not, which may be due to a weaker PAX7 than PAX3 promoter.     ///    These findings are consistent with the idea that an amplification event is required for the PAX7-FOXO1A chimeric transcript to reach a critical expression level.. '), ('7967', 'TEL_AML1', '', 'TEL', 'AML1', '16307416', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Within pB-ALL patients, the proportion as well as the absolute incidence of TEL/AML1 rearrangement and DNA index of > or = 1.16 was higher in the younger children.     ///    \"In contrast, no significant age-related outcome differences could be shown within TEL/AML1- or BCR/ABL-positive patients, as well as within CD10-negative pB-ALL beyond infant age. \"'), ('7968', 'RET_PTC1', '', 'RET', 'PTC1', '22087789', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We investigated the centrosome status and mitotic abnormalities in three thyroid carcinoma-derived cell lines, each maintaining the specific, biologically relevant gene alteration harbored by the parental tumors: RET/PTC1 rearrangement in TPC1.     ///    \"Our data indicate that RET/PTC1 oncogenic activity is not related to mitotic chromosome impairment and missegregation whereas, based on the consistent difference in types/frequencies of centrosome and spindle abnormalities observed between K1 and B-CPAP cells, the hetero/homozygous allelic status of BRAFV600E mutation seems to be not irrelevant in respect to chromosomal instability development.. \"'), ('7969', 'PLAT_PAI1', '', 'PLAT', 'PAI1', '7498551', '16', '', '', '', '', '', '', '', '', '', 'To define structural rearrangements occurring during interaction between PAI-1 and its target proteinases we have raised monoclonal antibodies against the PAI-1/t-PA complex.     ///    Thirteen out of 401 monoclonal antibodies reacted preferentially with the PAI-1/t-PA complex as compared to free PAI-1 or free t-PA.     ///    Detailed characterization revealed the presence of two non-overlapping neoantigenic epitopes in the PAI-1/t-PA complex. '), ('7970', 'RET_PTC', '', 'RET', 'PTC', '12881714', '16', 'follicular adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The BRAF(V599E) mutation appears to be an alternative event to RET/PTC rearrangement rather than to RAS mutations, which are rare in PTC.     ///    BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC..     ///    PTC with RET/PTC rearrangement as well as the TPC-1 cell line (the only one harboring RET/PTC rearrangement) did not show the BRAF(V599E) mutation.     ///    BRAF(V599E) may represent an alternative pathway to oncogenic MAPK activation in PTCs without RET/PTC activation.. '), ('7971', 'RET_PTC', '', 'RET', 'PTC', '14534528', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here, we test whether the oncoprotein RET/PTC could be responsible for this effect, since RET/PTC rearrangements are quite prevalent in PTC and RET/PTC activates PLCgamma, an upstream modulator of PKCs.     ///    \"Activation was restricted to PKCepsilon, as acute expression of RET/PTC did not change the subcellular distribution of other PKC isozymes expressed in PCCL3 cells. \"    ///    Acute expression of RET/PTC induces isozyme-specific activation and subsequent downregulation of PKCepsilon in PCCL3 thyroid cells..     ///    Prolonged RET/PTC expression (2-6 days) produced an isozyme-specific change in PKCepsilon subcellular localization and a decrease in total PKCepsilon levels.     ///    \"At 3 h after induction of RET/PTC1 or RET/PTC3 expression, there was evidence of PKCepsilon activation. \"    ///    \"However, downregulation of total PKCepsilon levels was only partially prevented by expression of RET/PTC(Y541F). \"    ///    \"Based on our previous observation that PCCL3 cells expressing a dominant-negative PKCepsilon are also markedly resistant to apoptosis, we propose that selective downregulation of PKCepsilon following prolonged RET/PTC activation promotes cell survival and clonal expansion.. \"    ///    Cells with decreased PKCepsilon following prolonged expression of RET/PTC were relatively resistant to doxorubicin-induced apoptosis. '), ('7972', 'PLAG1_HAS2', '', 'PLAG1', 'HAS2', '15642402', '16', 'lipoblastoma', '', '', '', '', '', '', '', '', 'PLAG1-HAS2 fusion in lipoblastoma with masked 8q intrachromosomal rearrangement.. '), ('7973', 'VCFS_DGS', '', 'VCFS', 'DGS', '9118473', '16', 'velocardiofacial syndrome\r\r', '', '', '', '', '', '', '', '', 'Molecular studies of patients with the DGS/VCFS phenotype and unique chromosomal rearrangements have allowed a minimal critical region for the disease to be defined.     ///    Further investigation into the disease mechanism leading to the DGS/VCFS phenotype will hopefully further our understanding of cardiac development and disease.. '), ('7974', 'ROS1_ALK', '', 'ROS1', 'ALK', '26791794', '16', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Lung cancer cell lines with ALK rearrangement, ROS1 rearrangement or MET amplification had expected in vitro responses to crizotinib and the ALK/ROS1 TKI ceritinib. '), ('7975', 'RAC1_CDC42', '', 'RAC1', 'CDC42', '15548653', '16', 'Kallmann syndrome', '', '', '', '', '', '', '', '', 'In human embryonic GnRH olfactory neuroblasts, wild-type anosmin-1, but not proteins with loss-of-function KS mutations, induces neurite outgrowth and cytoskeletal rearrangements through FGFR1-dependent mechanisms involving p42/44 and p38 mitogen-activated protein kinases and Cdc42/Rac1 activation. '), ('7976', 'TEL_AML1', '', 'TEL', 'AML1', '15921520', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'No significant associations between specific MTHFR variants or combinations of variants and risk of ALL were observed neither in the total patient group nor in analyses stratified by gender, age at diagnosis, DNA index, immunophenotype, or TEL/AML1 rearrangement. '), ('7977', 'P53_PML', '', 'P53', 'PML', '12915590', '16', '', '', '', 'Oncogene', '', '', '', '', '', 'UV-radiation caused rapid rearrangements of PML nuclear bodies and promoted PML-p53 and PML-Mdm2 complex formation, coinciding with p53 stabilization and preceding p53-Mdm2 interaction suggesting temporally distinct complexes. '), ('7978', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '20164853', '16', '', '', '', '', '', '', '', '', '', 'AML with CBFB-MYH11 rearrangement demonstrate RAS pathway alterations in 92% of all cases including a high frequency of NF1 deletions.. '), ('7979', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '15069540', '16', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'A recent multi-institutional retrospective study revealed that the SYT-SSX fusion type emerged as the only independent significant factor for overall survival in cases of SS. '), ('7980', 'RET_PTC3', '', 'RET', 'PTC3', '12114746', '16', 'trabecular adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 and RET/PTC3 are the most common types, accounting for >90% of all rearrangements.     ///    \"RET/PTC1 tends to be more common in tumors with typical papillary growth and microcarcinomas and to have a more benign clinical course, whereas RET/PTC3 in some populations shows a strong correlation with the solid variant of papillary carcinoma and more aggressive tumor behavior. \"'), ('7981', 'NOS3_ATS', '', 'NOS3', 'ATS', '23927885', '16', 'adenocarcinoma\r\r', '', '', '', '', '', '', '', '', 'Two series of consecutive TTNB with 18-gauge needles performed before and after the publication of the ATS/ERS/IASLC guidelines, were retrospectively compared regarding their adequacy for histological sub-typing and EGFR/KRAS mutations and ALK rearrangement testing.     ///    Adequacy of CT-guided biopsies with histomolecular subtyping of pulmonary adenocarcinomas: influence of ATS/ERS/IASLC guidelines..     ///    \"With respect to ATS/ERS/IASLC guidelines, radiologists, biologists and pathologists have improved their practice. \"    ///    \" As metastatic pulmonary adenocarcinomas are routinely investigated for EGFR, KRAS, and ALK mutations/rearrangement, adequacy of CT-guided trans-thoracic needle biopsies (TTNB) needs to be evaluated in respect with the 2011 ATS/ERS/IASLC guidelines. \"'), ('7982', 'TMEM106B_ROS1', '', 'TMEM106B', 'ROS1', '25851827', '16', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'TMEM106B-ROS1 is a novel ROS1 fusion variant in NSCLC identified by comprehensive genomic profiling and should be included in any ROS1 detecting assay that depends on identifying the corresponding fusion partners such as reverse transcriptase-polymerase chain reaction (RT-PCR)..     ///    Identification of a novel TMEM106B-ROS1 fusion variant in lung adenocarcinoma by comprehensive genomic profiling..     ///    We identified a novel ROS1 fusion variant (TMEM106B-ROS1) in a stage IV adenocarcinoma of the lung never-smoker female patient during routine genomic profiling (FoundationOne).     ///    This novel TMEM106B-ROS1 fusion variant is generated by the fusion of exons 1-3 of TMEMB106B on chromosome 7p21 to the exons 35-43 of ROS1 on chromosome 6q22. '), ('7983', 'RET_PTC', '', 'RET', 'PTC', '19147628', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The molecular pathology of thyroid cancer is now better understood because of our ability to identify RET/PTC rearrangements and BRAF mutations in the aetiopathogenesis of the large majority of PTCs and the high prevalence of RAS mutations and PAX8/PPARgamma rearrangements in follicular patterned carcinomas (FTCs and follicular variant of PTCs).     ///    \"For simplicity, the review is divided up according to the major genetic alterations identified in well-differentiated thyroid carcinomas (RET/PTC rearrangements, BRAF mutations, RAS mutations and mitochondrial DNA deletions and mutations) and their respective treatments.. \"'), ('7984', 'RET_PTC3', '', 'RET', 'PTC3', '25333496', '16', 'thyroid nodule;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Our aims were to evaluate the diagnostic utility of assessing the presence of BRAF and RAS mutations and RET/PTC1 and RET/PTC3 rearrangements in all cytological categories in an Italian group of thyroid nodule patients assessed prospectively, and to understand whether and which mutation testing might be helpful in cytologically indeterminate nodules. '), ('7985', 'RET_PTC', '', 'RET', 'PTC', '18018555', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' Molecular mechanism of thyroid carcinogenesis has been well studied through the discovery of genetic abnormalities such as RET/PTC rearrangement and BRAF mutation, both of which constitutively activate MAP kinase pathway and are frequently found in papillary thyroid cancer. '), ('7986', 'RET_PTC', '', 'RET', 'PTC', '18437172', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Most common mutations in papillary carcinomas are point mutations of the BRAF and RAS genes and RET/PTC rearrangement. '), ('7987', 'RET_PTC1', '', 'RET', 'PTC1', '26265449', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF underlies ERK activation in most TC cells, but not in TPC-1 cells with RET/PTC1 rearrangement.     ///    \" Thyroid cancer (TC) is frequently associated with BRAF or RAS oncogenic mutations and RET/PTC rearrangements, with aberrant RAF-MEK-ERK and/or PI3K pathway activation. \"    ///    RAF-1 promotes survival of thyroid cancer cells harboring RET/PTC1 rearrangement independently of ERK activation..     ///    \"Our data indicate that RAF-1 is important for the survival of TPC-1 cells independently of the classical MEK1/2-ERK activation, offering new perspectives on RET/PTC signaling and for the therapy of thyroid cancers.. \"'), ('7988', 'BCR_ABL1', '', 'BCR', 'ABL1', '22453304', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'ABL1 deletion without BCR/ABL1 rearrangement is originated from a large-sized 9q deletion.. '), ('7989', 'RET_PTC', '', 'RET', 'PTC', '22442268', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Sunitinib was found to selectively inhibit cell proliferation, induce cell accumulation in the G0-G1 phase, and inhibit the phosphorylation of ERK1/2 in both KRAS/BRAF wild-type thyroid cancer cells and in tumor cells harboring the RET/PTC rearrangement, whereas it was completely ineffective in KRAS- or BRAF-mutated thyroid carcinoma cells.     ///    \" Sunitinib is currently being evaluated in advanced human thyroid carcinomas, based on the rationale that the vascular endothelial growth factor and platelet-derived growth factor receptors and the RET/PTC rearrangement are valuable targets for the treatment of this malignancy. \"    ///    \"The effect of activating somatic mutations in the KRAS and BRAF genes on the responsiveness to sunitinib was evaluated in a panel of thyroid cancer cell lines harboring wild-type KRAS and BRAF genes, the RET/PTC1 rearrangement, the G12R KRAS, or the V600E BRAF mutation. \"'), ('7990', 'RET_PTC', '', 'RET', 'PTC', '22679698', '16', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The main genetic changes are point mutations in the RET proto-oncogene (somatic or germ-line) in medullary thyroid carcinoma and point mutations in BRAF and RAS genes or RET/PTC rearrangements in carcinomas developing from follicular cells. '), ('7991', 'RET_PTC', '', 'RET', 'PTC', '18509003', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In contrast, no difference either in NIS or in any other thyroid differentiation genes\' mRNA expression was found in PTC with or without RET/PTC rearrangements.     ///    \"BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide symporter genes in papillary thyroid cancer.. \"    ///    We found BRAFV600E and RET/PTC rearrangements in 35.8 and 19.4% of PTCs respectively.     ///    \"In the present study, we analyzed the mRNA expression of thyroid differentiation genes, glucose transporter (GLUT)-1 and GLUT-3, in 78 PTCs according to the presence of BRAFV600E or RET/PTC rearrangements. \"    ///    \"When GLUT-1 and GLUT-3 mRNA expression was considered, no correlation was found either in BRAFV600E- nor in RET/PTC-mutated cases. \"'), ('7992', 'MOZ_CBP', '', 'MOZ', 'CBP', '15142518', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', '[Acute myeloid leukemia with MOZ/CBP rearrangement].. '), ('7993', 'RET_PTC', '', 'RET', 'PTC', '26798849', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' After the pathogenesis of thyroid carcinomas was better understood and the role of molecular alterations in RET, BRAF and RET/PTC rearrangement was revealed, several trials using multikinase inhibitors were developed during the last decade for the treatment of recurrent radioactive iodine (RAI)-refractory differentiated thyroid cancer (DTC), achieving a remarkable success. '), ('7994', 'CD44_CD25', '', 'CD44', 'CD25', '23386701', '16', 'ataxia telangiectasia;thymic carcinoma', '', '', '', '', '', '', '', '', 'Defective T-cell differentiation is also evident as an increased DN3 (CD44(-)CD25(+)) population, the cell stage during which T-cell receptor rearrangement takes place. '), ('7995', 'NOTCH1_FBXW7', '', 'NOTCH1', 'FBXW7', '22547598', '16', 'T ALL;lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Our study determines the frequency and prognostic value of NOTCH1/FBXW7 mutations (N/F(mut)), FLASH deletion at chromosome 6q, and TCR rearrangements in a prospective cohort of pediatric T-LBL.     ///    Mutational status of NOTCH1/FBXW7 represents a promising marker for early therapeutic stratification in pediatric T-LBL.. '), ('7996', 'MLL_AF4', 't(4;11)(q21,q23) / t(4;11)  /  / ', 'MLL', 'AF4', '9808577', '16', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'AF4 antibodies should be useful for further elucidation of the function of AF4 in normal cellular physiology, as well as the function of MLL-AF4 in leukemogenesis.     ///    AF4 encodes a ubiquitous protein that in both native and MLL-AF4 fusion types localizes to subnuclear compartments..     ///    The MLL-AF4 fusion protein had a similar subcellular distribution as AF4. '), ('7997', 'RET_PTC', '', 'RET', 'PTC', '18088233', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Those include RET/PTC rearrangement and point mutations of the BRAF and RAS genes. '), ('7998', 'RET_PTC', '', 'RET', 'PTC', '20587665', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We found that 50% growth inhibition (GI(50)) by PD0325901 was 11 nmol/L for the PTC cells with the RET/PTC1 rearrangement and 6.3 nmol/L for PTC cells with a BRAF mutation, with both concentrations readily achievable in serum.     ///    \"Most PTC carry one of the two mutations, RET/PTC rearrangement or BRAF mutation. \"    ///    \"In conclusion, our data suggested that PTC cells carrying a BRAF mutation were more sensitive to PD0325901 than were PTC cells carrying the RET/PTC1 rearrangement. \"    ///    \"For PTC with the RET/PTC1 rearrangement, the average tumor volume of the orthotopic tumor was reduced by 58% as compared with controls. \"    ///    PD0325901 is a specific MEK1/2 inhibitor and therefore is a promising drug to treat thyroid cancers with either RET/PTC or BRAF mutation. '), ('7999', 'BCR_ABL1', '', 'BCR', 'ABL1', '25143840', '16', 'leukemia;multiple myeloma;lymphoproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Cytogenetics revealed normal karyotype, JAK2 kinase was negative, and rearrangement of BCR-ABL1, PDGFRA, PDGFRB, and FGFR1 was negative. '), ('8000', 'ROS1_ALK', '', 'ROS1', 'ALK', '27009821', '16', 'signet ring cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The aim of this study is to explore the efficacy of crizotinib in treatment of non-small cell lung cancer (NSCLC) with ALK/ROS1 rearrangement.     ///    \"The clinical features, efficacy, and adverse events of crizotinib in the treatment of the 40 patients with ALK/ROS1-positive NSCLC are similar to the data from the previous reports. \"    ///    \"Retrospective analysis of 40 patients with ALK/ROS1-positive NSCLC, who received treatment in Beijing Cancer Hospital during the period from Jun. \"'), ('8001', 'RUNX1T1_RUNX1', '', 'RUNX1T1', 'RUNX1', '22926532', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Pericentric chromosome 8 inversion, inv8(p11.2q22), associated with RUNX1/RUNX1T1 rearrangement in acute myeloid leukemia.. '), ('8002', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '26167339', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer;follicular adenoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'BRAF(V600E) Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review.. '), ('8003', 'RET_PTC', '', 'RET', 'PTC', '17911174', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Cell proliferation was potently inhibited by CI-1040 in cells harboring BRAF or RAS mutations but not in cells harboring RET/PTC rearrangement or wild-type alleles.     ///    \"For example, the IC50 values for BRAF mutation-harboring KAT10 cells and DRO cells and H-RAS mutation-harboring C643 cells were 0.365, 0.031, and 0.429 microm, respectively, whereas the IC50 values for RET/PTC1-harboring TPC1 cells and the wild-type MRO and WRO cells were 44, 46, and 278 microm, respectively. \"'), ('8004', 'BCR_ABL1', '', 'BCR', 'ABL1', '24335708', '16', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' In the current WHO classification of myeloid disorders, chronic neutrophilic leukaemia (CNL) is recognized as a myeloproliferative neoplasm characterized by sustained neutrophilic leukocytosis, hepatosplenomegaly and bone marrow granulocytic hyperplasia without evidence of dysplasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1. '), ('8005', 'RET_PTC', '', 'RET', 'PTC', '12665646', '16', 'thyroid nodule;papillary carcinoma;thyloid cancer;leukemia;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'For instance, mutations of the gsp and thyroid-stimulating hormone receptor genes are associated with benign hyperfunctioning thyroid nodules and adenomas while alterations of other specific genes, such as oncogenic tyrosine kinase alterations (RET/PTC, TRK) in papillary carcinoma and the newly discovered PAX8/peroxisome proliferator-activated receptor gamma rearrangement, are distinctive features of cancer. '), ('8006', 'MLL_AFF1', '', 'MLL', 'AFF1', '24991719', '16', 'acute myeloid leukemia;acute lymphoblastic leukemia;down syndrome\r\r', '', '', 'Oncogene', '', '', '', 'KB', 'Seq', 'In non-DS, frequent abnormalities were MLL rearrangements, mainly MLL-AFF1 in acute lymphoblastic leukemia and MLL-MLLT3 in AML. '), ('8007', 'CYTC_APAF1', '', 'CYTC', 'APAF1', '26014357', '16', '', '', '', '', '', '', '', '', '', 'The binding triggers a major domain rearrangement in Apaf-1, which leads to oligomerization of Apaf-1/cytochrome c complexes into an apoptosome.     ///    \"We have applied protein-protein docking and energy minimization, evaluated the resulting models of the Apaf-1/cytochrome c complex, and carried out a further analysis by means of molecular dynamics simulations. \"    ///    The reported model of an Apaf-1/cytochrome c complex provides insights in the nature of protein-protein interactions which are hard to observe in crystallographic or electron microscopy studies. '), ('8008', 'TRP_INV', '', 'TRP', 'INV', '22965494', '16', '', '', '', '', '', '', '', '', '', 'Remarkably, our results show that 12.0% of the human genome is potentially susceptible to such inversions and 942 genes, 99 of which are on the X chromosome, are predicted to be disrupted secondary to such an inversion! In addition, IP-LCRs larger than 800 bp with at least 98% sequence identity (duplication/triplication facilitating IP-LCRs, DTIP-LCRs) were recently implicated in the formation of complex genomic rearrangements with a duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) structure by a replication-based mechanism involving a template switch between such inverted repeats.     ///    \"Remarkably, 1,445 disease-associated genes are at risk of undergoing copy-number gain as they map to genomic intervals susceptible to the formation of DUP-TRP/INV-DUP complex rearrangements. \"    ///    \"We identified 1,551 DTIP-LCRs that could facilitate DUP-TRP/INV-DUP formation. \"'), ('8009', 'RET_PTC3', '', 'RET', 'PTC3', '21403618', '16', 'thyroid carcinoma;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Molecular-biological studies of PTC revealed more common RET/PTC1 and RET/PTC3 rearrangements (34.3% of cases), than BRAFV600E mutation (24%cases). '), ('8010', 'MLL_ALL1', '', 'MLL', 'ALL1', '16801167', '16', '', '', '', '', '', '', '', '', '', 'The outcome of IALL patients with ALL-1/MLL rearrangements at the 11q23 cytogenetic band, early pre-B immunophenotype, high WBC count and age below 6 mo is significantly worse than in patients without these characteristics, and current therapies appear inadequate in a significant number of cases. '), ('8011', 'KRAS_BRAF', '', 'KRAS', 'BRAF', '22442268', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Sunitinib was found to selectively inhibit cell proliferation, induce cell accumulation in the G0-G1 phase, and inhibit the phosphorylation of ERK1/2 in both KRAS/BRAF wild-type thyroid cancer cells and in tumor cells harboring the RET/PTC rearrangement, whereas it was completely ineffective in KRAS- or BRAF-mutated thyroid carcinoma cells.     ///    \"Of note, the constitutive activation of RAS/RAF/ERK signaling in KRAS/BRAF wild-type cells by transfection of the R12 HRAS or V600E BRAF mutants or stimulation with epithelial growth factor resulted in the loss of responsiveness to sunitinib, whereas pharmacological inhibition of MAPK kinase activity resulted in the resensitization of KRAS- or BRAF-mutated cells to the multikinase inhibitor. \"'), ('8012', 'RET_PTC', '', 'RET', 'PTC', '17186541', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' In papillary thyroid carcinogenesis, the constitutively activated mitogen-activated protein (MAP) kinase signaling pathway caused by a genetic alteration such as RET/PTC rearrangement or mutation of RAS and BRAF genes, is thought to be a major early event. '), ('8013', 'PPAR_PAX8', '', 'PPAR', 'PAX8', '21798995', '16', 'anaplastic thyroid carcinoma', '', '', '', '', 'Receptor', '', '', '', 'PAX8/peroxisome proliferator-activated receptor ? (PPAR?) rearrangements, which occur in FTC as an alternative to the RAS mutation, are associated with specific changes in gene expression. '), ('8014', 'BCR_ABL1', '', 'BCR', 'ABL1', '21486895', '16', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 T315I mutation imparts resistance to tyrosine kinase inhibitors currently available for treatment of chronic myelogenous leukaemia.     ///    A pyrosequencing-based test for detection and relative quantification of the BCR-ABL1 T315I point mutation..     ///    \"The goals of this study were to retrospectively review the authors\' experience with Sanger sequencing-based BCR-ABL1 kinase domain mutation testing, paying particular attention to the T315I mutation, and to develop an alternative test for relative quantification of T315I using pyrosequencing. \"    ///    The resulting cDNA was subjected to an initial round of PCR across the BCR-ABL1 breakpoint followed by a second round to amplify the sequence flanking ABL1 codon 315. '), ('8015', 'RET_PTC1', '', 'RET', 'PTC1', '18004977', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC1 chromosomal rearrangement is associated with papillary thyroid carcinoma formation in children exposed to ionizing radiation.     ///    \"Only one line had thyroid-targeted, doxycycline-regulated RET/PTC1 and luciferase coexpression, in which doxycycline induction of RET/PTC1 led to Erk phosphorylation and reduced expression of the sodium/iodide symporter (NIS). \"    ///    \"In this study, we aimed to create a doxycycline-inducible mouse model of thyroid RET/PTC1 and luciferase reporter gene coexpression to allow for noninvasive monitoring of transgene expression in mice of various ages and timepoints after induction. \"    ///    We found that acute RET/PTC1 expression can activate the MEK/Erk pathway and downregulate NIS expression in the mouse thyroid gland.     ///    \"However, a higher level of RET/PTC1 is likely necessary for tumor formation. \"    ///    Creation and characterization of a doxycycline-inducible mouse model of thyroid-targeted RET/PTC1 oncogene and luciferase reporter gene coexpression..     ///    \"Transgenic mice carrying the rtTA gene driven by the thyroglobulin promoter were generated, and crossed with responder mice carrying RET/PTC1 and firefly luciferase genes under control of a bidirectional tetracycline response element. \"    ///    We previously created a transgenic mouse model with thyroid-targeted constitutive RET/PTC1 expression and demonstrated papillary thyroid carcinoma formation. '), ('8016', 'RET_PTC3', '', 'RET', 'PTC3', '21219595', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'So far, 15 main RET/PTC rearrangements have been described, among which RET/PTC1 and RET/PTC3 are the most common in PTC - especially in radiation-induced tumours.     ///    Quantitative evaluation of RET/PTC1 and RET/PTC3 rearrangements by real-time PCR was performed by an ABI PRISM?? 7500 Sequence Detection System.     ///    \"In the study, PTC tissues with known RET/PTC1 and RET/PTC3 rearrangements served as a reference standard (calibrator), while ?-actin gene was used as endogenous control. \"    ///    \"Our results indicate that RET/PTC1 and RET/PTC3 rearrangements in Hashimoto\'s thyroiditis, if any, are rather rare events and further investigations should be conducted in order to determine molecular changes, connecting Hashimoto\'s thyroiditis with PTC.. \"    ///    Assessment of RET/PTC1 and RET/PTC3 rearrangements in fine-needle aspiration biopsy specimens collected from patients with Hashimoto\'s thyroiditis..     ///    No RET/PTC1 and RET/PTC3 rearrangements were found in the examined samples.     ///    The aim of study was an assessment of RET/PTC1 and RET/PTC3 rearrangements in patients with Hashimoto\'s thyroiditis.     ///    \"RET/PTC1 and RET/PTC3 are the result of intrachromosomal paracentric inversions in chromosome 10, where RET and the activating genes (H4 and ELE1, respectively) are located. \"'), ('8017', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15681856', '16', 'anaplastic thyroid carcinoma;papillary adenoma', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In thyroid follicular carcinomas, two known initiating events are RAS mutations and PAX8-PPARgamma rearrangements, and RAS predisposes to dedifferentiation of follicular carcinomas. '), ('8018', 'TEL_AML1', '', 'TEL', 'AML1', '16497975', '16', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'No significant difference of AS mRNA up-regulation was found between precursor B- and T-ALL or between hyperdiploids, TEL/AML1 rearranged ALL or absence of genetic abnormalities. '), ('8019', 'MP2_CAS', '', 'MP2', 'CAS', '26928893', '16', '', '', '', '', '', '', '', '', '', ' The mechanism for the photochemical rearrangement of a cyclic divinyldisilane () in its first excited state ((1)? ? (1)?*) is determined using the CAS/6-311G(d) and MP2-CAS/6-311++G(3df,3pd) levels of theory. '), ('8020', 'RET_PTC', '', 'RET', 'PTC', '22654560', '16', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Thyroid-specific rearrangements RET/PTC and PAX8/PPAR?, on the other hand, are rarely found in PDTC and UTC, suggesting that these genetic alterations do not predispose cells to dedifferentiation. '), ('8021', 'CXCR6_CXCL16', '', 'CXCR6', 'CXCL16', '26799186', '16', 'prostate cancer\r\r', '', '', '', '', 'Receptor', '', '', '', 'CXCR6-CXCL16 axis promotes prostate cancer by mediating cytoskeleton rearrangement via Ezrin activation and ?v?3 integrin clustering..     ///    \"Intriguingly, CXCR6-CXCL16 interaction in PCa cells promotes Ezrin activation, ?v?3 integrin clustering and capping at the leading edge in FAK/PI3K/PKC dependent manner, thereby modifying cellular adhesion as well as motility. \"'), ('8022', 'TFG_TEC', 't(3;9)(q11-12;q22) / ', 'TFG', 'TEC', '24073693', '16', 'chondrosarcoma', '', 'Kinase', '', '', '', '', '', '', 'The TFG-TEC protein also associated with a mutant NLS-TFG-TEC (AAAA) protein, which harbours mutations in the NLS (nuclear localization signal).     ///    A TFG-TEC nuclear localization mutant forms complexes with the wild-type TFG-TEC oncoprotein and suppresses its activity..     ///    Thus mutations in the TFG-TEC NLS yield a dominant-negative protein.     ///    These results show that the biological functions of the TFG-TEC oncogene can be modulated by a dominant-negative mutant..     ///    Subcellular localization assays showed that the NLS mutant TFG-TEC (AAAA) protein interfered with the nuclear localization of wild-type TFG-TEC.     ///    \"The present study used both in vitro and in vivo systems to show that the TFG-TEC protein self-associates, and that this is dependent upon the CC (coiled-coil) domain (amino acids 97-124), the AF1 (activation function 1) domain (amino acids 275-562) and the DBD (DNA-binding domain) (amino acids 563-655). \"'), ('8023', 'MCC_APC', '', 'MCC', 'APC', '18675311', '16', '', '', '', '', 'Tumor_suppressor', '', '', '', '', 'The SACM might function by an MCC:APC/C complex rearrangement.. '), ('8024', 'PSS_PAH', '', 'PSS', 'PAH', '16471564', '16', '', '', '', '', '', '', '', '', '', 'It is concluded that Cyt-c can effectively compete with PAH for binding of PSS, resulting in a rearrangement of the layered structure and a penetration of the PSS-bound Cyt-c into the PAH/PSS double layers.     ///    \"Additional (PAH/PSS) double layers cause a broadening of the redox transition and a drastic negative shift of the redox potential, which is attributed to the formation of PSS/Cyt-c complexes. \"'), ('8025', 'FLI1_EWS', 't(11;22)(q24;q12) / ', 'FLI1', 'EWS', '16865286', '16', 'ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'There has been only one study reporting a NLS in EWS, but none reporting those in FLI1 and EWS-FLI1.     ///    \"To clarify the function of chimeric EWS-FLI1 proteins, an identification of a nuclear localization signal (NLS) in the EWS, FLI1 and EWS-FLI1 proteins is important because the chimeric oncoprotein may lose or gain NLS function different from native proteins resulting in different subcellular localization, and in deregulated gene expression. \"'), ('8026', 'RET_PTC', '', 'RET', 'PTC', '18492751', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Mutations of Ras, PIK3Ca, PTEN, and BRAF genes and RET/PTC rearrangements were common, whereas mutations in PDK1, Akt1, Akt2, and RTK genes were uncommon in ATC. '), ('8027', 'RET_PTC1', '', 'RET', 'PTC1', '20615140', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'By reverse transcriptase-polymerase chain reaction (RT-PCR) and quantitative RT-PCR (Q-RT-PCR) they were found unable to silence RET/PTC1.     ///    Three efficient siRNAs previously designed in our laboratory in a model of murine PTC (RP-1 cells) were used to knockdown RET/PTC1 in the TPC-1 cells.     ///    The downregulation of RET/PTC1 modified the cell cycle and induced an apoptotic response.     ///    A mutation was found by sequencing within the H4 part of the RET/PTC1 junction leading to a ????T?G substitution.     ///    The specificity of the siRNARET/PTC1 was confirmed by the absence of a silencing effect on the human breast MCF-7 and BT-474 cells without RET/PTC1 and the murine RP-1 with ????G?T mutation.     ///    \"Our aims were (i) to target the RET/PTC1 oncogene by siRNAs, (ii) to assess the knockdown effects on cell growth and cell cycle regulation, and (iii) to identify genes affected by the RET/PTC1 silencing. \"    ///    \"After sequencing, we redesigned an siRNA against RET/PTC1 (siRNARET/PTC1) and compared it for its efficiency and specificity with an siRNA against RET (siRNARET) in the TPC-1 cells, in human cell lines that expressed RET (MCF-7 and BT-474 cells), and in the murine RP-1 cells. \"    ///    Effects of silencing RET/PTC1 junction oncogene in human papillary thyroid carcinoma cells..     ///    The E2F2 gene regulation would have a biological significance and seems to be directly mediated by RET/PTC1..     ///    Genes affected by the RET/PTC1 knockdown were identified by microarray analysis followed by Q-RT-PCR validation. '), ('8028', 'BCR_ABL1', '', 'BCR', 'ABL1', '25983565', '16', 'leukemia;lymphoproliferative disorder\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Tests for both Janus kinase mutation JAK2 V617F and rearrangement of the genes BCR-ABL1, platelet-derived growth factor receptor-? (PDGFR?), PDGFR?, and fibroblast growth factor receptor-1 (FGFR1) were negative. '), ('8029', 'RET_PTC', '', 'RET', 'PTC', '17525478', '16', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'On the molecular level, post-Chernobyl tumors are characterized by frequent occurrence of chromosomal rearrangements, such as RET/PTC, whereas point mutations of BRAF and other genes are much less common in this population.. '), ('8030', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '15689324', '16', 'thyroid carcinoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Follicular carcinomas are characterized by the presence of a RAS mutation or of a PAX8-PPARgamma rearrangement. '), ('8031', 'TEL_AML1', '', 'TEL', 'AML1', '10979974', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'We show that IGH V-D-J rearrangements occur in 89% of 163 BCP-ALL, with no significant variation according to age or genotype (BCR-ABL, TEL-AML1, MLL-AF4, and E2A-PBX1).     ///    \"In contrast, TCRG rearrangements, which occur in 60% of patients overall, are frequent in BCR-ABL and TEL-AML1, are less so in MLL-AF4, and are virtually absent in infants aged predominantly from 1 to 2 years and in E2A-PBX1 ALLs. \"'), ('8032', 'RAC1_CDC42', '', 'RAC1', 'CDC42', '25641678', '16', '', '', '', '', '', '', '', '', '', 'In cultured podocytes, PTEN inhibition caused actin cytoskeletal rearrangement and this response was associated with unbalanced activation of the small GTPases Rac1/Cdc42 and RhoA. '), ('8033', 'NPM_ALK', '', 'NPM', 'ALK', '10450759', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'NPM/ALK rearrangements in indolent cutaneous lesions.. '), ('8034', 'RET_PTC3', '', 'RET', 'PTC3', '24570192', '16', 'thyroid nodule;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'PAX8/PPARG and RET/PTC3 rearrangements were detected by qPCR, while BRAF and RAS point mutations were detected by pyrosequencing. '), ('8035', 'RET_PTC', '', 'RET', 'PTC', '8628282', '16', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', ' RET/PTC oncogenes, generated by chromosomal rearrangements in papillary thyroid carcinomas, are constitutively activated versions of proto-RET, a gene coding for a receptor-type tyrosine kinase (TK) whose ligand is still unknown.     ///    RET/PTCs encode fusion proteins in which proto-RET TK and C-terminal domains are fused to different donor genes. '), ('8036', 'MSH2_MLH1', '', 'MSH2', 'MLH1', '19930554', '16', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers..     ///    \"The main MMR genes responsible for HNPCC, MLH1, MSH2, MSH6, and PMS2, were analyzed by MLPA (multiplex ligation-dependent probe amplification) in a total of 37 unrelated HNPCC-suspected patients whose MLH1/MSH2 genes gave negative results in previous sequencing experiments. \"    ///    It has been reported that loss of heterozygosity (LOH) at the LGR region occurs through a gene conversion mechanism in tumors from MLH1/MSH2 deletion carriers. '), ('8037', 'RET_PTC2', '', 'RET', 'PTC2', '15876154', '16', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'No RET/PTC2 rearrangements were observed.     ///    \"The prevalence of RET/PTC1, RET/PTC2, and RET/PTC3 has been found to vary between 0% and 20% in most series of sporadic (nonradiation-induced) PTCs analyzed by type-specific reverse transcription-polymerase chain reaction (RT-PCR) alone. \"    ///    \"In our study, RET/PTC1, RET/PTC2, and RET/PTC3 oncogenes were found in only 7 of 105 (7%) sporadic PTCs. \"    ///    \"RT-PCR was also performed with two different primer sets for RET/PTC1, RET/PTC2, and RET/PTC3 followed by Southern hybridization in the first 62 tumors. \"    ///    \"RT-PCR was performed to amplify fusion products of RET/PTC1, RET/PTC2, RET/PTC3, and ELKS-RET from frozen tissue of 105 sporadic PTCs. \"    ///    \"Because the high prevalence of RET rearrangements in Chinese patients was particularly striking, we were prompted to reexamine chimeric transcripts of RET/PTC1, RET/PTC2, and RET/PTC3 using the same experimental designs in a larger number of cases in the same population. \"'), ('8038', 'CYP2D7P_CYP2D6', '', 'CYP2D7P', 'CYP2D6', '8873218', '16', '', 'PCR', '', '', '', '', '', '', '', 'Characterization and PCR-based detection of two different hybrid CYP2D7P/CYP2D6 alleles associated with the poor metabolizer phenotype..     ///    Here we demonstrate that the 11 kb band represents at least two different nine exon CYP2D7P/CYP2D6 hybrids generated by large deletions in the CYP2D gene cluster due to unequal cross-over or looping-out mechanisms. '), ('8039', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '25794974', '16', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Moreover, high-level HDAC1 staining was associated with TMPRSS2:ERG rearrangement and ERG expression in prostate cancers (p<0.0001) and was linked to deletions of PTEN (p<0.0001), 6q (p<0.0001) and 5q (p=0.0028) in ERG-negative cancers. '), ('8040', 'PBX1_E2A', 't(1;19)  / ', 'PBX1', 'E2A', '9405651', '16', 'myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The Meis1/pKnox1-interaction domain in Pbx1 resided predominantly in a conserved N-terminal Pbx domain deleted in E2a-Pbx1.     ///    Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1.. '), ('8041', 'MLLT3_MLL', '', 'MLLT3', 'MLL', '24991719', '16', 'acute myeloid leukemia;acute lymphoblastic leukemia;down syndrome\r\r', '', '', 'Oncogene', '', '', '', '', 'Seq', 'In non-DS, frequent abnormalities were MLL rearrangements, mainly MLL-AFF1 in acute lymphoblastic leukemia and MLL-MLLT3 in AML. '), ('8042', 'ETO_AML1', '', 'ETO', 'AML1', '25332574', '16', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'A Case of AML-M2 with Sole Interstitial Deletion in 9q Without AML1-ETO/Inv 16 Rearrangement and FLT3/NPMI Mutations.. '), ('8043', 'TRNK_TRND', '', 'TRNK', 'TRND', '23425263', '16', '', '', '', '', '', '', '', '', '', 'Orthoptera mitochondrial genomes (mitogenomes) follow the ancestral insect gene order, with the exception of a trnD-trnK rearrangement in Acridomorphs and rare tRNA inversions. '), ('8044', 'RET_PTC', '', 'RET', 'PTC', '25926393', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Blinded analysis of BRAF and RAS point mutations and RET/PTC and PAX8/PPAR? rearrangements was correlated with subsequent follow-up. '), ('8045', 'TEL_AML1', '', 'TEL', 'AML1', '26022503', '16', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Moreover, a low accumulation of MTX polyglutamates was observed in MLL-rearranged and TEL-AML1 rearranged ALL (P < 0.05).     ///    TEL-AML1 fusion was associated with increased MTX resistance (P = 0.023). '), ('8046', 'RET_PTC', '', 'RET', 'PTC', '9516913', '16', 'thyroid carcinoma;papillary carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'This study demonstrates that all thyroid carcinomas harboring activating RET rearrangements exhibit a well-differentiated phenotype, that of papillary carcinoma, and indicates that the subset of RET/PTC-positive papillary carcinomas do not progress to more aggressive, less differentiated tumor phenotypes..     ///    RET/PTC oncogene activation defines a subset of papillary thyroid carcinomas lacking evidence of progression to poorly differentiated or undifferentiated tumor phenotypes..     ///    \"A common genetic alteration in thyroid tumors is the rearrangement of the tyrosine kinase-encoding RET proto-oncogene, leading to the generation of chimeric RET/PTC oncogenes. \"'), ('8047', 'EML4_ALK', '', 'EML4', 'ALK', '24828670', '16', 'neuroendocrine carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'A case of large-cell neuroendocrine carcinoma harboring an EML4-ALK rearrangement with resistance to the ALK inhibitor crizotinib.. '), ('8048', 'BCL2_IGH', '', 'BCL2', 'IGH', '11265676', '16', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Transformation to acute leukaemia in an MDS patient harbouring bcr-abl and bcl 2-IgH rearrangements, without expression of either activated oncogene.. '), ('8049', 'FLI1_ERF', 't(11;22)(q24;q12) / ', 'FLI1', 'ERF', '10975680', '16', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Suppression of the Ewing\'s sarcoma phenotype by FLI1/ERF repressor hybrids..     ///    \"The FLI1/ERF repressor, like the wild-type ERF, is regulated by mitogen-activated protein kinase-dependent subcellular localization. \"'), ('8050', 'PDGFRB_C6orf204', '', 'PDGFRB', 'C6orf204', '21938754', '16', 'T ALL;lymphoma\r\r', '', 'Kinase', '', '', 'Receptor', '', '', '', 'Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm..     ///    \"Here, we developed version 2.0 of a genomically based systematic kinase fusion screen and used it to detect a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia. \"'), ('8051', 'RET_PTC', '', 'RET', 'PTC', '16029121', '16', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC rearrangements are frequent in thyroid cancer and appear to be exclusive from mutational events in RAS and BRAF.     ///    \"We further propose that if mutations in BRAF, RAS, and RET/PTC rearrangements are mutually exclusive in certain thyroid tumors or tumor types, as has already been shown for papillary thyroid cancer, then these interconnected pathways may cooperate in the initiation and promotion of the disease. \"'), ('8052', 'PAX3_FKHR', '', 'PAX3', 'FKHR', '17478770', '15', 'rhabdomyosarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'all showed PAX3/FKHR chromosomal translocation. '), ('8053', 'RET_PTC3', '', 'RET', 'PTC3', '9589668', '15', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among the papillary thyroid carcinomas of 11 patients examined, we have identified 2 containing RET/PTC1, 3 containing RET/PTC2, and 1 containing RET/PTC3 oncogenes. '), ('8054', 'EML4_ALK', '', 'EML4', 'ALK', '25489176', '15', 'renal cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Computer aided molecular docking data show Tivozanib and Lapatinib bind EML4-ALK with high score.     ///    Additional data on these compounds for use in EML4-ALK positive NSCLC will provide evidence for use in patients treated with crizotinib.     ///    Molecular docking studies shows tivozanib and lapatinib as potential inhibitors of EML4-ALK translocation mediated fusion protein in non small cell lung cancer.    ///    Molecular docking studies shows tivozanib and lapatinib as potential inhibitors of EML4-ALK translocation mediated fusion protein in non small cell lung cancer..     ///    This led to successful evidence of using tyrosine kinase inhibitors (TKIs) over the standard platinum doublet based chemotherapy as the first line treatment in the metastatic setting.The rearrangements of fusion protein EML4-ALK in NSCLC lead to the use of crizotinib for this class of tumors. '), ('8055', 'EWS_ETV1', '', 'EWS', 'ETV1', '17334332', '15', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 43 samples with translocations detected, 26 (60%) had an EWS-FLI1 type 1 translocation, 13 (30%) had an EWS-FLI1 type 2 translocation, 3 (7%) had an EWS-ERG translocation, 1 had an EWS-ETV1 translocation, and 1 sample had both an EWS-FLI1 type 1 and type 2 translocation.     ///    \"Real-time RT-PCR assays specific for Ewing\'s sarcoma (EWS-FLI1, EWS-ERG, EWS-ETV1, EWS-ETV4, and EWS-FEV), synovial sarcoma (SYT-SSX1 and SYT-SSX2), and rhabdomyosarcoma (PAX3-FKHR and PAX7-FKHR) were tested across the samples. \"'), ('8056', 'JAZF1_JJAZ1', '', 'JAZF1', 'JJAZ1', '18077430', '15', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'At the same time, the presence of JAZF1-JJAZ1 markedly inhibited apoptosis and induced above normal proliferation rates, although the latter effect occurred only when normal JJAZ1 was suppressed.    ///    \"At the same time, the presence of JAZF1-JJAZ1 markedly inhibited apoptosis and induced above normal proliferation rates, although the latter effect occurred only when normal JJAZ1 was suppressed. \"    ///    \"We found that the JAZF1-JJAZ1 fusion restored levels of the polycomb protein EZH2 and histone 3 lysine 27 trimethylation, which were reduced by knockdown of endogenous JJAZ1. \"    ///    We show here that both benign and malignant forms of this tumor have the JAZF1-JJAZ1 fusion but only the malignant form also exhibits exclusion of the unrearranged JJAZ1 allele. '), ('8057', 'EML4_ALK', '', 'EML4', 'ALK', '25348872', '15', 'adenosquamous carcinoma', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Based on the biobanking system, in conjunction with the clinic and pathology lab, we developed a genotyping panel designed to assess 24 mutations in 10 genes (EGFR, KRAS, BRAF, PIK3CA, NRAS, MEK1, AKT1, PTEN, HER2 and DDR2), EGFR, MET, PIK3CA, FGFR1 and FGFR2 copy numbers, and EML4-ALK and ROS1 translocations, using pyrosequencing plus capillary electrophoresis, quantitative polymerase chain reaction (PCR) and reverse-transcription PCR, respectively.    ///    \"Based on the biobanking system, in conjunction with the clinic and pathology lab, we developed a genotyping panel designed to assess 24 mutations in 10 genes (EGFR, KRAS, BRAF, PIK3CA, NRAS, MEK1, AKT1, PTEN, HER2 and DDR2), EGFR, MET, PIK3CA, FGFR1 and FGFR2 copy numbers, and EML4-ALK and ROS1 translocations, using pyrosequencing plus capillary electrophoresis, quantitative polymerase chain reaction (PCR) and reverse-transcription PCR, respectively. \"'), ('8058', 'TPM3_NTRK1', '', 'TPM3', 'NTRK1', '10074915', '15', 'thyroid carcinoma\r\r', '', 'Kinase', '', '', '', '', 'KB', 'Seq', 'Reciprocal NTRK1/TPM3 transcripts were found in 4 of 5 tumors with TPM3/NTRK1 re-arrangement, indicating an intra-chromosomal balanced reciprocal inversion.     ///    \"Reciprocal NTRK1/TPM3 transcripts were found in 4 of 5 tumors with TPM3/NTRK1 re-arrangement, indicating an intra-chromosomal balanced reciprocal inversion.\"    ///    \"Oncogenic fusion of the NTRK1 tyrosine kinase domain with the amino-terminal part of the tropomyosin gene (TPM3/NTRK1, trk) was observed in 5 tumors. \"'), ('8059', 'EWS_ERG', '', 'EWS', 'ERG', '11471459', '15', '', 'PCR', '', '', '', '', '', '', '', 'With this method we have correctly determined known as well as unknown ET-associated EWS-FLI and EWS-ERG translocations in appropriate specimens.     ///    \"Use of our consensus primers eliminates the need for separate PCRs to amplify EWS-FLI and EWS-ERG translocation junctions, and because direct sequencing is used for confirming the identity of the amplification product, the accuracy of detection becomes 100%. \"    ///    The method might also accurately diagnose ET-associated translocations other than EWS-FLI and EWS-ERG translocations.. '), ('8060', 'EWS_ERG', '', 'EWS', 'ERG', '17334332', '15', 'synovial sarcoma;rhabdomyosarcoma;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Of the 43 samples with translocations detected, 26 (60%) had an EWS-FLI1 type 1 translocation, 13 (30%) had an EWS-FLI1 type 2 translocation, 3 (7%) had an EWS-ERG translocation, 1 had an EWS-ETV1 translocation, and 1 sample had both an EWS-FLI1 type 1 and type 2 translocation.     ///    \"Real-time RT-PCR assays specific for Ewing\'s sarcoma (EWS-FLI1, EWS-ERG, EWS-ETV1, EWS-ETV4, and EWS-FEV), synovial sarcoma (SYT-SSX1 and SYT-SSX2), and rhabdomyosarcoma (PAX3-FKHR and PAX7-FKHR) were tested across the samples. \"'), ('8061', 'NKG2A_CD94', '', 'NKG2A', 'CD94', '11978777', '15', 'arthritis', '', '', '', '', '', '', '', '', 'Another TCRBV1 line with the same TCRBV1 rearrangement had a low expression of CD94/NKG2A, but expressed NKG2C transcripts and was cytotoxic toward HLA-B27.     ///    \"Functionally, one TCRBV1 line and clones with a high CD94/NKG2A expression did not lyse B27+ targets. \"    ///    We found stable but distinct levels of CD94/NKG2 complexes at the surface of T cell lines and clones. '), ('8062', 'MUM1_IRF4', '', 'MUM1', 'IRF4', '23348205', '15', 'primary effusion lymphoma', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Unlike DH-BCL2/MYC lymphomas, however, they are more likely to be CD10(-) but IRF4/MUM-1(+) (P=0.03) and, more like BL, only infrequently express BCL2 (P<0.001), and are cytogenetically less complex (P<0.04).. '), ('8063', 'P50_NFKB1', '', 'P50', 'NFKB1', '10886328', '15', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'We investigated these activities in vivo by comparing immunoreactivity for phosphorylated(p) SEK-1 (or MKK4, which activates JNK), c-Jun (ser63, ser73) and nuclear translocation of NFKappaB-p50 in tissue sections through the forebrain of control and p75NGFR-deficient mice.     ///    \"Following fimbria fornix transection in adult mice, few basal forebrain neurons contained SEK1p while many axotomized choline acetyltransferase (ChAT)-positive neurons contained c-Junp and nuclear NFKappaB-p50. \"    ///    \"At any age, NFKappaB-p50 immunoreactivity was seen in nuclei of most cells throughout the forebrain. \"'), ('8064', 'LEPR_LEP', '', 'LEPR', 'LEP', '25070832', '15', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The effects of the major allergen recombinant Par j 1 (rPar j 1), of FF, of leptin, and of TGF-?1 on cell proliferation, on leptin/leptin receptor expression and modulation (by clonogenic test, by RT-q-RT-PCR, by immunocytochemistry and by flow-cytometry), and on STAT-3 activation (assessing nuclear translocation by western blot analysis) were assessed.     ///    \"In vitro, in human nasal epithelial cell line RPMI 2650, we aimed to determine whether allergen stimulation acts on leptin/leptin receptor pathway and how fluticasone furoate (FF) influences this pathway. \"    ///    \"In conclusion, FF and leptin itself are able to preserve nasal epithelial homeostasis restoring the leptin/leptin receptor pathway altered by rPar j 1 exposure.. \"    ///    \"We found that rPar j 1 and TGF-?1 significantly decreased cell proliferation and down-regulated the leptin/leptin receptor pathway, whereas FF and leptin reverted them, both alone and in combination. \"    ///    Fluticasone furoate maintains epithelial homeostasis via leptin/leptin receptor pathway in nasal cells.. '), ('8065', 'P65_NFKB1', '', 'P65', 'NFKB1', '16460729', '15', '', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Following chymase treatment, the translocation of active NF-kappaB/p65 to the nucleus was partly abolished and the amount of nuclear p65 was reduced. '), ('8066', 'LIG3_LIG1', '', 'LIG3', 'LIG1', '26520366', '15', '', 'PCR', '', '', '', '', '', '', '', 'Notably, a nearly fourfold increase in translocation formation is seen in c-NHEJ mutants with defects in DNA ligase 4 (Lig4) that remain largely sensitive to inhibitors of Parp, and of Lig1/Lig3. '), ('8067', 'EML4_ALK', '', 'EML4', 'ALK', '20406193', '15', 'anaplastic large cell lymphoma;non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The recent reports of EML4 (echinoderm microtubule-associated protein-like 4)-ALK oncogenic proteins in non-small cell lung cancer (NSCLC) and the identification of ALK activating point mutations and gene amplification in neuroblastoma have indicated ALK as a potential major therapeutic target for human cancers. '), ('8068', 'LPS_IFNG', '', 'LPS', 'IFNG', '18926678', '15', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Further study indicated that ABLOO markedly inhibited the phosphorylation of IKKbeta down to based level, but not IKKalpha, corresponding with decreased in IkappaBalpha degradation and phosphorylation induced by LPS/IFN-gamma, resulting in the suppression of NF-kappaB nuclear translocation and activity.     ///    We found that acetyl side groups enhanced the inhibitory action of the agents on LPS/IFN-gamma-induced iNOS and COX-2 expression.     ///    \"The effects of LPS/IFN-gamma were reversed by ABLOO, and BL without acetyl side groups showed only a weak inhibitory action. \"'), ('8069', 'MLL_ENL', '', 'MLL', 'ENL', '23393050', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Overall, half maximal effective concentrations (EC50s) were lower than 176 nM (the maximal plasma concentration [Cmax] with recommended adult dose) in 76% of samples, whether in MLL-AF4, MLL-ENL, or other MLL-R or MLL-G subsets, and regardless of patients\' poor prognostic features. '), ('8070', 'NCOA2_MYST3', 't(10;16)  / t(10;16)(q22;p13) / t(11;17)(q23;q21) / ', 'NCOA2', 'MYST3', '15147375', '15', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'The potential resulting chimaeric proteins showed similarities with MYST3-CBP, MYST3-P300 and MYST3-NCOA2 putative fusion proteins found in other cases of AML.. '), ('8071', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '20018353', '15', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'All but 2 ERG rearranged foci had detectable TMPRSS2-ERG transcript levels.     ///    \"Each focus was assessed for size, Gleason score, ERG rearrangement, and TMPRSS2-ERG transcript. \"'), ('8072', 'BCR_ABL1', '', 'BCR', 'ABL1', '23127356', '15', '', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' Chronic myeloid leukaemia (CML) is characterized by the Philadelphia chromosome resulting in the BCR-ABL1 gene whose mRNA transcript detection is commonly used for diagnosis and monitoring of therapeutic response.     ///    Patient-specific individual BCR-ABL1 fusion sites were successfully detected in 10 out of 13 patients.     ///    Identification of the genomic BCR-ABL1 fusion sequence from blood specimen stored on filter paper..     ///    DNA was isolated from dried blood stains from CML patients stored on filter paper (Guthrie cards) after a median period from diagnosis of 11 years (range: 5-12 years) and analyzed with a two round long-range multiplex PCR (MLR-PCR) to identify the genomic BCR-ABL1 breakpoint. '), ('8073', 'PTD_MLL', '', 'PTD', 'MLL', '21665178', '15', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Second, as MLL-PTD, FLT3-ITD, and NPM1 mutations are identified in AML with normal karyotypes, we briefly studied their impact on the HOXB genes.     ///    The expression values of these HOXB genes significantly differ between MLL-PTD and tMLL cases.     ///    \"In this study, we first explored the differentially expressed genes between MLL-PTD and tMLL using gene expression profiling of our cohort (15 MLL-PTD and 10 tMLL) and one published data set. \"'), ('8074', 'CD5_CD10', 't(9;14)(p13;q32) / t(2;6) / t(4;8) / t(9;14) / p13;q32.3 / t(9;14)  / ', 'CD5', 'CD10', '9850179', '15', 'liver cirrhosis;primary effusion lymphoma', '', '', '', '', '', '', '', '', 'Immunophenotyping of lymphoma cells in the ascitic fluid revealed a mature peripheral B-cell phenotype (CD5- CD10- CD19+ CD20+ CD22+ Ig G+ lambda+). '), ('8075', 'HSCS_CD33', '', 'HSCS', 'CD33', '25538041', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In patient samples, these molecules were expressed in CD34(+)CD38(+) and CD34(-) LICs but not in CD34(+)CD38(-)CD19(-)CD33(-) HSCs. '), ('8076', 'MYC_BCL2', '', 'MYC', 'BCL2', '23716551', '15', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Patients with tumors expressing both MYC/BCL2 had the worst prognosis, whereas those with double-negative tumors had the best outcome. '), ('8077', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '16352687', '15', 'thyroid carcinoma;thyloid cancer\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Although the NORE1A mRNA levels of the majority of the tumors were similar to those in the normal controls, the cases harboring a PAX8-PPARgamma translocation (n = 6) exhibited dramatically reduced NORE1A expression (P < 0.001).     ///    \"Our experiments demonstrate the suppression of NORE1A, a known Ras effector, in PAX8-PPARgamma carrying FTCs.. \"    ///    \"The results were evaluated in relation to RASSF1A expression, RAS mutations, and PAX8-PPARgamma fusions assessed in the same material. \"    ///    The Ras effector NORE1A is suppressed in follicular thyroid carcinomas with a PAX8-PPARgamma fusion.. '), ('8078', 'TLR4_TLR2', '', 'TLR4', 'TLR2', '18292749', '15', 'insulin resistance\r\r', 'PCR', '', '', '', '', '', '', '', 'TLR2/TLR4 stimulation was associated with NF-kappaB p65 nuclear translocation and proinflammatory cytokine production.     ///    \"In tissue culture, adipocyte TLR2/TLR4 mRNA expression and protein increased significantly following Pam3CSK4 and LPS (P<0.001). \"'), ('8079', 'BCR_ABL1', '', 'BCR', 'ABL1', '26276770', '15', 'lymphoblastic leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Many of the submitted cases showed interesting diagnostic, immunophenotypic, or clinical aspects of B-ALL with BCR/ABL1, MLL-associated, and other recurrent chromosomal abnormalities. '), ('8080', 'BCR_ABL1', '', 'BCR', 'ABL1', '7734352', '15', '', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We have used a two-step reverse transcriptase polymerase chain reaction (RT-PCR) to detect the transcripts of the chimaeric genes BCR/ABL, ABL/BCR, as well as the normal ABL and BCR genes in 24 CML patients treated with IFN.     ///    \"However, 7/10 ABL/BCR mRNA positive patients achieved a major cytogenetic response to IFN. \"    ///    The function and clinical significance of the newly discovered ABL/BCR mRNA has not been investigated for a correlation with CML prognosis or response to therapy.     ///    \"but of the 13 ABL/BCR mRNA negative patients, only two achieved a major cytogenetic response (P = 0.013). \"    ///    \"Also, no correlation was found between expression of BCR, ABL or BCR/ABL mRNA and response to treatment with IFN. \"    ///    Interferon response in chronic myeloid leukaemia correlates with ABL/BCR expression: a preliminary study.. '), ('8081', 'RET_PTC', '', 'RET', 'PTC', '8319199', '15', 'thyroid carcinoma;thyloid cancer;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Accordingly, inducibility of RET oncogene rearrangements, i.e., the generation of the RET-PTC oncogene, specific for thyroid cancer, was investigated among human undifferentiated thyroid carcinoma cells (8505C), which do not have RET oncogene rearrangement, after 0, 10, 50, and 100 Gy of in vitro X-irradiation by means of reverse transcription polymerase chain reaction. '), ('8082', 'EML4_ALK', '', 'EML4', 'ALK', '24199682', '15', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We sought to evaluate alternative mechanisms of resistance and preclinical strategies to overcome these in a cell line driven by EML4-ALK.     ///    We selected the NSCLC cell line NCI-H3122 (H3122: EML4-ALK E13;A20) and derived resistant variants that were able to grow in the presence of 1 ?M crizotinib. '), ('8083', 'KRAS_EGFR', '', 'KRAS', 'EGFR', '23341890', '15', 'non small cell lung cancer;lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'No EGFR/KRAS mutations were detected among the EML4-ALK positive patients. '), ('8084', 'FUS_CHOP', '', 'FUS', 'CHOP', '18820664', '15', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Myxoid/round cell liposarcoma is characterized by a translocation causing FUS-CHOP or EWSR1-CHOP fusion, whereas well-/dedifferentiated liposarcoma is characterized by an amplification of the 12q13-15 region, including MDM2 and CDK4 genes.     ///    \"Amplification status of the 12q13-15 region was studied using a multiplex ligation-dependent probe amplification analysis, and FUS-CHOP or EWS-CHOP translocations were studied using RT-PCR. \"');
INSERT INTO `ChimerPub_dump` VALUES ('8085', 'RRP42_RRP41', '', 'RRP42', 'RRP41', '18353775', '15', '', '', '', '', '', '', '', '', '', 'Residues from all three Rrp41-Rrp42 heterodimers interact with a single RNA molecule, providing evidence for the functional relevance of exosome ring-like assembly in RNA processivity. '), ('8086', 'BCR_ABL1', '', 'BCR', 'ABL1', '23575066', '15', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1 in leukemia: disguise master outplays riding shotgun..     ///    \"This review unfolds current understanding of BCR-ABL1 (break point cluster region-c-abl oncogene 1, non-receptor tyrosine kinase) signaling with a focus on apoptotic suppressive mechanisms and alternative approaches to chronic myeloid leukemia therapy.. \"'), ('8087', 'STAT2_STAT1', '', 'STAT2', 'STAT1', '11172336', '15', 'hepatocellular carcinoma;hepatocellular carcinoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'IFN-alpha binding initiated phosphorylation of Jak1 and Tyk2 kinases leading to Stat1/Stat2 activation, nuclear translocation, and transactivation of an ISRE-luciferase reporter gene construct. '), ('8088', 'IGH_BCL2', '', 'IGH', 'BCL2', '15147376', '15', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Quantitative real-time polymerase chain reaction (QRT-PCR) for either the BCL2/IgH translocation or allele specific oligonucleotide (ASO) QRT-PCR for the immunoglobulin heavy chain (IgH) complementarity-determining region 3 were used. '), ('8089', 'RET_PTC', '', 'RET', 'PTC', '12637586', '15', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Activation of signal transducer and activator of transcription 3 by oncogenic RET/PTC (rearranged in transformation/papillary thyroid carcinoma) tyrosine kinase: roles in specific gene regulation and cellular transformation..     ///    This thyroid-specific rearrangement causes aberrant expression of RET/PTC and results in constitutive ligand-independent activation of RET kinase.     ///     Thyroid papillary carcinomas are characterized by RET/PTC (rearranged in transformation/papillary thyroid carcinoma) rearrangements that result in fusion of the tyrosine kinase domain of the RET receptor to the N-terminal sequences encoded by heterologous genes.     ///    \"In this study, we show that RET/PTC associates with signal transducer and activator of transcription 3 (STAT3) and activates it by the specific phosphorylation of the tyrosine 705 residue. \"    ///    Activation of STAT3 requires the intrinsic kinase activity of RET/PTC.     ///    \"In addition, RET/PTC-mediated cellular transformation and proliferation of transformed cells require tyrosine 705 phosphorylation of STAT3 in NIH3T3 cells. \"    ///    \"We conclude that STAT3 activation by the RET/PTC tyrosine kinase is one of the critical signaling pathways for the regulation of specific genes, such as cyclin D1, vascular endothelial growth factor, and intercellular adhesion molecule 1, and for cellular transformation.. \"    ///    \"However, it is unclear how RET/PTC activates the specific signaling pathways for cellular transformation. \"    ///    \"RET/PTC-induced activation of STAT3 induces the STAT3-responsive genes, vascular endothelial growth factor, cyclin D1, and intercellular adhesion molecule 1. \"    ///    Janus tyrosine kinase and c-Src kinase are not involved in the RET/PTC-mediated activation of STAT3. '), ('8090', 'SAPK_JNK', '', 'SAPK', 'JNK', '15735759', '15', '', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Treatment of the human CRC cell lines HT-29 and SW480 with VEGF-A (a ligand for both VEGFR-1 and -2) or VEGF-B (a ligand specific for VEGFR-1) led to activation of Erk-1/2, SAPK/JNK, and translocation of the p65 subunit of nuclear factor-kappaB into the nucleus. '), ('8091', 'ATR_ATM', '', 'ATR', 'ATM', '23272087', '15', 'prostate cancer\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', ' The ATM/ATR DNA damage checkpoint functions in the maintenance of genetic stability and some missense variants of the ATM gene have been shown to confer a moderate increased risk of prostate cancer.     ///    \"Intriguingly, unlike the non-malignant prostate epithelial cells, the ATM/ATR DNA damage checkpoint appears to be defective in prostate cancer cells, since androgen treatment only induced a partial activation of the DNA damage response. \"    ///    \"Here, we show that exposure of non-malignant prostate epithelial cells (HPr-1AR) to androgen led to activation of the ATM/ATR DNA damage response and induction of cellular senescence. \"    ///    Our findings demonstrate that ATM/ATR inactivation is a crucial step in promoting androgen-induced genomic instability and prostate carcinogenesis..     ///    Inactivation of ATM/ATR DNA damage checkpoint promotes androgen induced chromosomal instability in prostate epithelial cells.. '), ('8092', 'BCR_ABL1', '', 'BCR', 'ABL1', '23341502', '15', 'prostate cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'We tested a set of cell lines positive for the BCR-ABL1 fusion and prostate cancers positive for the TMPRSS2-ERG fusion. '), ('8093', 'P68_helicase', '', 'P68', 'helicase', '12722952', '15', '', '', '', '', '', '', '', '', '', 'In case of active transcription p68-helicase can be involved in the formation of local \"gene expression matrices\" and due to its satDNA-binding specificity cause the rearrangement of the local chromosome territory.     ///    SAF-A/hnRNP-U and p68-helicase are proteins suitable to do that. '), ('8094', 'SET_NUP214', '', 'SET', 'NUP214', '22075511', '15', 'acute myeloid leukemia;T ALL;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', 'KB', '', 'Using multiplex reverse transcriptase-polymerase chain reaction analysis, we detected a cryptic SET-NUP214 rearrangement in our patient.     ///    Further studies are necessary to evaluate the incidence of SET-NUP214 rearrangement in T-ALL patients and the treatment responses as well as prognosis of these patients..     ///    T-cell acute lymphoblastic leukemia associated with complex karyotype and SET-NUP214 rearrangement: a case study and review of the literature..     ///    \" SET-NUP214 rearrangements have been rarely reported in T-cell acute lymphoblastic leukemia (T-ALL), acute undifferentiated leukemia, and acute myeloid leukemia, and most documented cases have been associated with normal karyotypes in conventional cytogenetic analyses. \"    ///    \"Here, we describe a novel case of T-ALL associated with a mediastinal mass and a SET-NUP214 rearrangement, which was masked by a complex karyotype at the time of initial diagnosis. \"    ///    \"As only 11 cases (including the present study) of T-ALL with SET-NUP214 rearrangement have been reported, the clinical features and treatment outcomes have not been fully determined. \"'), ('8095', 'BCL2_IGH', '', 'BCL2', 'IGH', '24085766', '15', 'follicular lymphoma', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'MRD for the bcl-2/IgH translocation was determined on bone marrow cells in a centralized laboratory belonging to the Euro-MRD consortium, using qualitative and quantitative polymerase chain reactions (PCRs). '), ('8096', 'EML4_ALK', '', 'EML4', 'ALK', '22034911', '15', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Crizotinib-resistant mutants of EML4-ALK identified through an accelerated mutagenesis screen.. '), ('8097', 'PDGFRB_ATF7IP', '', 'PDGFRB', 'ATF7IP', '25400122', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', 'Kinase', '', '', 'Receptor', 'Transcription_Factor', '', '', ' We report a 10-year-old male with relapsing Ph-like acute lymphoblastic leukemia (ALL) bearing ATF7IP/PDGFRB translocation.     ///    TKI dasatinib monotherapy for a patient with Ph-like ALL bearing ATF7IP/PDGFRB translocation.. '), ('8098', 'IGH_BCL2', '', 'IGH', 'BCL2', '20160358', '15', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'No association between BCL2 overexpression and BCL2 /IGH translocation was seen.     ///    BCL2/IGH translocation was found in 35/90 patients (38.88%) with 24 cases showing BCL2 (MBR)/IGH and 11 cases BCL2 (mcr)/IGH translocation.     ///    \"It was found that patients with p53 overexpression had decreased overall survival (P = 0.0004) whereas BCL2, BCL6 expression, and BCL2/IGH translocation had no impact on overall survival. \"'), ('8099', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '26666578', '15', '', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Nested reverse transcription polymerase chain reaction demonstrated that bone marrow was positive for FIP1L1-PDGFRA rearrangement.     ///    A case of myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia..     ///     We report a 29-year-old man with double hip pain and lower limb weakness for 6 months with myeloid neoplasm with FIP1L1-PDGFRA rearrangement without marked peripheral blood eosinophilia.     ///    FIP1L1-PDGFRA fusion by reverse transcription polymerase chain reaction was still positive at 3 months. '), ('8100', 'LIR_AQP2', '', 'LIR', 'AQP2', '20722976', '15', 'Meniere\'s disease', '', '', '', '', '', '', '', '', 'The similar AQP2-LIR translocation was also demonstrated by forskolin and blocked by vasopressin/V2R specific antagonist, OPC31260 and protein kinase A (PKA) specific antagonists, H-89 and KT-5720. '), ('8101', 'MAWD_MAWBP', '', 'MAWD', 'MAWBP', '26373288', '15', 'gastric cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'MAWD/MAWBP co-overexpression inhibited Smad2 phosphorylation and nuclear translocation (P < 0.05), and AKP activity was lowest in MAWD/MAWBP coexpressing cells and highest in vector-expressing cells (P < 0.001).     ///    \"MAWD/MAWBP positive staining was significantly lower in GC tissues than in normal samples (P < 0.001), and the expression of these proteins was closely correlated with GC differentiation grade. \"    ///    \"TGF-beta, E-cadherin, and PGC expression in xenograft tumors derived from MAWD/MAWBP coexpressing cells was higher than that in control. \"    ///    \"To investigate the role of MAWD and MAWBP in GC differentiation, we analyzed the relationship between MAWD/MAWBP and clinicopathologic characteristics of GC tissues and examined the expression of E-cadherin and pepsinogen C (PGC)-used as gastric mucosa differentiation markers-in MAWD/MAWBP-overexpressing GC cells and xenografts. \"    ///    \"The differentiation-related proteins E-cadherin and PGC were expressed in GC tissues at a lower level than in normal tissues (P < 0.001), but were upregulated in MAWD/MAWBP-overexpressing cells. \"    ///    N-cadherin and Snail expression was strongr in vector-expressing cells and comparatively weaker in MAWD/MAWBP co-overexpressing cells. '), ('8102', 'IGH_BCL2', '', 'IGH', 'BCL2', '21497287', '15', 'follicular lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'This sensitivity allows detection of diagnostically relevant levels of IGH@-BCL2 but will not detect the rare cells with IGH@-BCL2 translocations in healthy individuals..     ///    \"As proof of principle, we applied this approach to the detection of IGH@-BCL2 translocations in DNA prepared from FFPE specimens. \"    ///    Demonstration of array-based analysis for highly multiplexed PCR assays application to detection of IGH@-BCL2 translocations in FFPE follicular lymphoma specimens..     ///    \"The multiplex PCR with array detection method detected the IGH@-BCL2 translocation in 26 of 36 FFPE follicular lymphoma specimens, whereas the BIOMED-2 assay detected 13 of 36 specimens. \"    ///    The method detected the IGH@-BCL2 lesion when the tumor DNA was diluted more than 1:20 in normal DNA but not when it was diluted more than 1:100. '), ('8103', 'EWSR1_CHOP', '', 'EWSR1', 'CHOP', '18820664', '15', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Myxoid/round cell liposarcoma is characterized by a translocation causing FUS-CHOP or EWSR1-CHOP fusion, whereas well-/dedifferentiated liposarcoma is characterized by an amplification of the 12q13-15 region, including MDM2 and CDK4 genes.     ///    \"Amplification status of the 12q13-15 region was studied using a multiplex ligation-dependent probe amplification analysis, and FUS-CHOP or EWS-CHOP translocations were studied using RT-PCR. \"'), ('8104', 'MYC_BCL2', '', 'MYC', 'BCL2', '26573234', '15', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Diffuse large B-cell lymphoma patients with MYC/BCL6 co-expression did have significantly poorer survival, however, MYC/BCL6 co-expression had no effect on prognosis in the absence of MYC/BCL2 co-expression, and had no additive impact in MYC+/BCL2+ cases. '), ('8105', 'STAT3_ALK', '', 'STAT3', 'ALK', '23599149', '15', 'plasma cell myeloma', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The relevance of the ALK/STAT3 pathway in the pathogenesis of ALK-positive large B-cell lymphomas may offer an attractive target for new therapies. '), ('8106', 'P65_P50', '', 'P65', 'P50', '26209501', '15', 'osteoarthritis', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'KPNA2 interacted with p65, and loss of KPNA2 caused decreased nuclear translocation of the active p50/p65 NF-?B complex. '), ('8107', 'STS_MIC2', '', 'STS', 'MIC2', '3674754', '15', '', '', '', '', '', '', '', '', '', 'The following order was found: (DXS69, DXS70, DXS143)-(DXS31, STS)-MIC2. '), ('8108', 'FLI_EWS', '', 'FLI', 'EWS', '11471459', '15', '', 'PCR', '', '', '', '', '', '', '', 'With this method we have correctly determined known as well as unknown ET-associated EWS-FLI and EWS-ERG translocations in appropriate specimens.     ///    The method might also accurately diagnose ET-associated translocations other than EWS-FLI and EWS-ERG translocations..     ///    \"Use of our consensus primers eliminates the need for separate PCRs to amplify EWS-FLI and EWS-ERG translocation junctions, and because direct sequencing is used for confirming the identity of the amplification product, the accuracy of detection becomes 100%. \"'), ('8109', 'P65_P50', '', 'P65', 'P50', '18675368', '15', 'colon cancer\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'EMSA in the presence of antibodies specific for p50 and p65 subunits indicated that echinomycin-induces the translocation of p50-p65 heterodimeric subunits of NF-kappaB. '), ('8110', 'SIL_SCL', '', 'SIL', 'SCL', '1387813', '15', '', 'PCR', '', '', '', '', '', '', '', 'Abnormalities of the gene occur rarely by chromosomal translocation into the T-cell receptor (TCR) delta locus and commonly by a site-specific 95-kb deletion, SIL-SCL (tald).     ///    \"Analysis of the SIL-SCL deletion by Southern blotting and polymerase chain reaction (PCR) in a series of 52 immature T-cell malignancies showed a type A deletion in 21% of cases, but no type B deletions. \"    ///    These data demonstrate an association between SCL disruption and TCR alpha beta lineage differentiation and suggest that the SIL-SCL deletion occurs at the same stage of ontogeny as TCR delta deletion..     ///    \"Six of eight SIL-SCL type A cases had undergone bilateral delta deletion, whereas only one of 31 cases with an apparently normal SCL gene had done so. \"'), ('8111', 'CD8_CD4', '', 'CD8', 'CD4', '23470994', '15', '', '', '', '', '', '', '', '', '', ' During the CD4(-)CD8(-) (DN) stage of T-cell development, RAG-dependent DNA breaks and V(D)J recombination occur at three T-cell receptor (TCR) loci: TCR?, TCR? and TCR?. '), ('8112', 'PHD_LAP', '', 'PHD', 'LAP', '10860745', '15', '', '', '', '', '', '', '', '', '', 'Biochemical analyses of the AF10 protein: the extended LAP/PHD-finger mediates oligomerisation..     ///    We have identified a novel protein-protein interaction motif in the AF10 protein comprising the extended LAP/PHD-finger. '), ('8113', 'MBR_IGH', '', 'MBR', 'IGH', '20160358', '15', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', 'PCR', '', '', '', '', '', '', '', 'BCL2/IGH translocation was found in 35/90 patients (38.88%) with 24 cases showing BCL2 (MBR)/IGH and 11 cases BCL2 (mcr)/IGH translocation. '), ('8114', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '26847175', '15', 'myoepithelioma', '', '', '', '', '', '', 'KB', 'Seq', 'NKX2-2 was positive in 37/40 (93%) Ewing sarcomas, including all atypical Ewing sarcomas and cases with known EWSR1-FLI1 or EWSR1-ERG fusion. '), ('8115', 'MLL_ENL', '', 'MLL', 'ENL', '25538041', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In MLL-ENL patients, either CD34(+) or CD34(-) cells were LICs, depending on the pattern of CD34 expression.     ///    \"Global gene expression profiling revealed that CD9, CD32, and CD24 were over-represented in MLL-AF4, MLL-AF9, and MLL-ENL LICs compared with normal HSCs. \"'), ('8116', 'BCR_ABL1', '', 'BCR', 'ABL1', '25554588', '15', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 sequence has advantages over the BCR-ABL1 transcript as a molecular marker in chronic myeloid leukemia and has been used in research studies.     ///    \"We developed a DNA real-time quantitative PCR (qPCR) method for quantification of BCR-ABL1 sequences, which is also potentially suitable for routine use. \"    ///    BCR-ABL1 sequences were quantified relative to BCR sequences in 521 assays on 266 samples from 92 patients.     ///    \"The BCR-ABL1 breakpoint was sequenced after isolation by nested short-range PCR of DNA from blood, marrow, and cells on slides, obtained either at diagnosis or during treatment, or from artificial mixtures. \"'), ('8117', 'DUX4_CIC', '', 'DUX4', 'CIC', '26847175', '15', 'myoepithelioma', '', '', '', '', '', '', '', '', 'NKX2-2 was positive in 9 (75%) mesenchymal chondrosarcomas, 8 (80%) olfactory neuroblastomas, 1 CIC-DUX4 sarcoma, 1 poorly differentiated synovial sarcoma, 1 neuroblastoma, 2 unclassified round cell sarcomas, and 3 small cell carcinomas.     ///    \"Nonetheless, NKX2-2 may be helpful to distinguish Ewing sarcoma from some histologic mimics including CIC-DUX4 and BCOR-CCNB3 sarcomas. \"    ///    \"We evaluated whole-tissue sections from 270 cases: 40 Ewing sarcomas (4 with atypical/large cell features), 20 CIC-DUX4 sarcomas, 5 BCOR-CCNB3 sarcomas, 9 unclassified round cell sarcomas, 10 poorly differentiated synovial sarcomas, 10 lymphoblastic lymphomas, 10 alveolar rhabdomyosarcomas, 10 embryonal rhabdomyosarcomas, 10 Merkel cell carcinomas, 10 small cell carcinomas, 20 melanomas, 5 NUT midline carcinomas, 10 Wilms tumors, 10 neuroblastomas, 10 olfactory neuroblastomas, 12 mesenchymal chondrosarcomas, 10 angiomatoid fibrous histiocytomas, 10 clear cell sarcomas, 5 gastrointestinal clear cell sarcoma-like tumors, 5 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas, 10 soft tissue and cutaneous myoepitheliomas, and 19 myoepithelial carcinomas. \"'), ('8118', 'IGH_BCL2', '', 'IGH', 'BCL2', '9613781', '15', 'non Hodgkin lymphoma;non Hodgkin lymphoma;lymphoma\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Eight patients with indolent disease had a BCL2/IgH translocation detectable by PCR.     ///    Polymerase chain reaction (PCR) was used to identify indolent NHL patients with the BCL2/IgH translocation which served as a marker of residual disease. '), ('8119', 'P65_NFKB1', '', 'P65', 'NFKB1', '19407676', '15', 'disc degeneration', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'NF-kappaB/p65 sustained nuclear translocation of NF-kappaB/p65 and stimulation of IL-1beta, IL-6, and IL-8 expression was noted on treatment of cells with SIN-1. '), ('8120', 'P300_MYST3', 't(10;16)  / t(10;16)(q22;p13) / t(11;17)(q23;q21) / ', 'P300', 'MYST3', '15147375', '15', '', '', '', '', '', '', '', '', '', 'The potential resulting chimaeric proteins showed similarities with MYST3-CBP, MYST3-P300 and MYST3-NCOA2 putative fusion proteins found in other cases of AML.. '), ('8121', 'ETO_AML1', '', 'ETO', 'AML1', '12529654', '15', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'Translocations lead to the formation of fusion genes encoding for chimerical proteins such as AML1-ETO which induces leukemogenesis. '), ('8122', 'VCFS_DGS', '', 'VCFS', 'DGS', '9405660', '15', 'DiGeorge syndrome', '', '', '', '', '', '', '', '', 'As a prelude to the development of mouse models for VCFS/DGS by generating targeted deletions in the mouse genome, we examined the organization of genes from human chromosome 22q11 in the mouse.     ///    \"Furthermore, although the region corresponding to about 2.5 megabases of the VCFS/DGS critical region is located on mouse chromosome 16, the relative organization of the region is quite different from that in humans. \"'), ('8123', 'RET_PTC3', '', 'RET', 'PTC3', '18304343', '15', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Previous studies have demonstrated that RET/PTC3 signals through Ras and can provoke nuclear translocation of NFkappaB and the downstream release of pro-inflammatory mediators from thyroid follicular cells in vitro and in vivo, making it an ideal target for studies using FTI.     ///    \"Immunoblot analysis was used to confirm the level at which FTI acts on RET/PTC3-expressing cells, and Annexin V/PI staining of cells was used to assess cell death in RET/PTC3-expressing cells co-cultured with FTI. \"    ///    These data suggest that FTI may be applied as an effective inhibitor for RET/PTC3-oncogene induced pro-inflammatory mediators..     ///    Rat thyrocytes transfected with RET/PTC3 or vector control cDNA were co-cultured with FTI and examined for inhibition of chemokine expression and secretion measured by RT-PCR and ELISA.     ///    \"The purpose of the current study was to determine if FTI could be used to inhibit the inflammatory activities of a known Ras-activating human oncoprotein, RET/PTC3. \"    ///    Neither RET/PTC3 protein expression nor apoptosis were affected at any dose of FTI investigated.     ///    \"For the studies described here, an in vitro assay was developed to measure FTI inhibition of RET/PTC3 pro-inflammatory effects. \"    ///    RET/PTC3 is a fusion oncoprotein expressed in the thyroid epithelium of patients afflicted with thyroid autoimmune disease and/or differentiated thyroid carcinoma. '), ('8124', 'E47_E12', '', 'E47', 'E12', '1818313', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', ' Recent studies have demonstrated that the E2A gene encoding helix-loop-helix proteins E12/E47 is fused to a novel homeobox gene PBX1, as a result of the t (1;19) translocation observed in pre-B cell acute lymphoblastic leukemias. '), ('8125', 'MAPK14_ERK', '', 'MAPK14', 'ERK', '20138247', '15', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', 'Our data suggest that DSHP-U blocks NO and inflammatory cytokine production in LPS-stimulated macrophages and that these effects are mainly mediated through the inhibition of the ERK/p38- and NF-kappaB signaling pathways.. '), ('8126', 'MLL_AF10', '', 'MLL', 'AF10', '10997963', '15', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'The generation of an in frame MLL-AF10 fusion requires complex intra- and interchromosomal exchanges between chromosomes 10 and 11. '), ('8127', 'HSC_CD19', '', 'HSC', 'CD19', '10428504', '15', '', '', '', '', '', '', '', '', '', 'Reverse transcriptase polymerase chain reaction analysis showed that TdT, CD19, and DHQ52-J(H) rearrangements were expressed at comparable levels when CD34+/CD19- HSC were plated on human or murine stromal cells.     ///    \"CD34+CD19- HSC on human BM stromal cells or fibroblasts differentiated into B-lineage cells with a continuum in density of surface CD19 expression, and some cells expressing micro/kappa or micro/lambda B-cell receptors. \"'), ('8128', 'BCR_ABL1', '', 'BCR', 'ABL1', '20808301', '15', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Despite maintenance of a complete cytogenetic response, a progressive rise of the BCR-ABL1 transcript was detected and loss of major molecular response occurred about 2 years after stopping IFN-? therapy.     ///    After nine boosts of vaccine the patient developed an adequate b2a2-25 peptide-specific CD4(+) T-cell response and BCR-ABL1 transcript started to decline in peripheral blood.     ///    \"At the last evaluation, 39 months since vaccinations commenced, the patient is in complete molecular response with an undetectable level of BCR-ABL1 transcript both in peripheral blood and in bone marrow and she continues to receive boosts of vaccine every 3 months as the only treatment.. \"'), ('8129', 'RET_PTC2', '', 'RET', 'PTC2', '9589668', '15', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'Among the papillary thyroid carcinomas of 11 patients examined, we have identified 2 containing RET/PTC1, 3 containing RET/PTC2, and 1 containing RET/PTC3 oncogenes. '), ('8130', 'ERBB2_EGFR', '', 'ERBB2', 'EGFR', '24199682', '15', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Crizotinib+erlotinib (reversible EGFR TKI) and crizotinib+afatinib (irreversible EGFR/ERBB2 TKI) were able to inhibit the growth of H3122 CR clones, confirming EGFR activation as a mechanism of resistance. '), ('8131', 'SSR_EST', '', 'SSR', 'EST', '23140574', '15', '', '', '', '', '', '', '', '', '', 'A total of 2,138 EST-SSR (expressed sequence tag-simple sequence repeat) markers were developed by mining a tetraploid peanut EST assembly including 101,132 unigenes (37,916 contigs and 63,216 singletons) derived from 70,771 long-read (Sanger) and 270,957 short-read (454) sequences.     ///    The newly developed EST-SSR markers will enrich current molecular marker resources in peanut.. '), ('8132', 'BCL2_IGH', '', 'BCL2', 'IGH', '21215097', '15', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Immunohistochemistry and fluorescence in-situ hybridization for c-myc, bcl-2, bcl-6, IgH, myc/IgH and bcl-2/IgH gene were performed.     ///    Two cases showed bcl-6 gene amplification and 6 DLBCL cases had a normal status of bcl-2/IgH. '), ('8133', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '12776192', '15', 'thyroid carcinoma\r\r', 'PCR;RT-PCR', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'This suggests that while the overall frequency of the PAX8-PPARgamma translocation in FTCs may be lower than previously thought, functional downregulation of PPARgamma is a key event in multiple types of thyroid neoplasia and is a possible target for therapeutic intervention.. '), ('8134', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '21368836', '15', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'Although we showed previously that RAG1/RAG2 shepherd the broken DNA ends to classical non-homologous end joining for proper repair, roles for the RAG proteins in preserving genomic stability remain poorly defined.     ///     Misrepair of DNA double-strand breaks produced by the V(D)J recombinase (the RAG1/RAG2 proteins) at immunoglobulin (Ig) and T cell receptor (Tcr) loci has been implicated in pathogenesis of lymphoid malignancies in humans and in mice. '), ('8135', 'BCR_ABL1', '', 'BCR', 'ABL1', '23541592', '15', 'leukemia\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The effects of room temperature storage time, different primers, and RNA input in the reverse transcription (RT) reaction on BCR-ABL1 and ?-glucuronidase (GUSB) cDNA yield were assessed in whole blood samples mixed with K562 cells.     ///    BCR-ABL1 per 10(3) GUSB values were significantly reduced (P = 0.004) after 48-hour storage.     ///    \"BCR-ABL1 was measured relative to GUSB to control for sample loading, and each gene was measured relative to known numbers of respective internal standard molecules to control for variation in quality and quantity of reagents, thermal cycler conditions, and presence of PCR inhibitors. \"    ///    \"Consequently, the yield of BCR-ABL1 was higher with gene-specific RT primers at all RNA inputs tested, increasing to as much as 158-fold. \"    ///    Quality control methods for optimal BCR-ABL1 clinical testing in human whole blood samples..     ///    We conclude that optimal measurement of BCR-ABL1 per 10(3) GUSB in whole blood is obtained when gene-specific primers are used in RT and samples are analyzed within 24 hours after blood collection..     ///    Gene-specific primers yielded more BCR-ABL1 cDNA than random hexamers at each RNA input. '), ('8136', 'RET_PTC1', '', 'RET', 'PTC1', '26960768', '15', 'papillary carcinoma;thyloid cancer;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'By RT-PCR we evaluated the relative levels of 15 microRNAs (miR-221, -222, -146b, -181b, -21, -187, -199b, -144, -192, -200a, -200b, -205, -141, -31, -375) and the presence of BRAF(V600E) mutation and RET-PTC1 translocation in surgically resected lesions from 208 patients from Novosibirsk oblast (Russia) with different types of thyroid neoplasms.     ///    \"miRNA profiling, detection of BRAF V600E mutation and RET-PTC1 translocation in patients from Novosibirsk oblast (Russia) with different types of thyroid tumors.. \"'), ('8137', 'CCNB3_BCOR', '', 'CCNB3', 'BCOR', '26847175', '15', 'myoepithelioma', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'Nonetheless, NKX2-2 may be helpful to distinguish Ewing sarcoma from some histologic mimics including CIC-DUX4 and BCOR-CCNB3 sarcomas.     ///    \"We evaluated whole-tissue sections from 270 cases: 40 Ewing sarcomas (4 with atypical/large cell features), 20 CIC-DUX4 sarcomas, 5 BCOR-CCNB3 sarcomas, 9 unclassified round cell sarcomas, 10 poorly differentiated synovial sarcomas, 10 lymphoblastic lymphomas, 10 alveolar rhabdomyosarcomas, 10 embryonal rhabdomyosarcomas, 10 Merkel cell carcinomas, 10 small cell carcinomas, 20 melanomas, 5 NUT midline carcinomas, 10 Wilms tumors, 10 neuroblastomas, 10 olfactory neuroblastomas, 12 mesenchymal chondrosarcomas, 10 angiomatoid fibrous histiocytomas, 10 clear cell sarcomas, 5 gastrointestinal clear cell sarcoma-like tumors, 5 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas, 10 soft tissue and cutaneous myoepitheliomas, and 19 myoepithelial carcinomas. \"'), ('8138', 'PAX3_FOXO1', '', 'PAX3', 'FOXO1', '24486246', '15', 'synovial sarcoma;rhabdomyosarcoma;desmoplastic small round cell tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', 'KB', 'Seq', 'We found disagreement in only three samples: one ES/pPNET and one embryonal rhabdomyosarcoma harbor a PAX3-FOXO1 translocation (for ARMS), and one neuroepithelioma harboring a EWS-WT1 (for DSRCT). '), ('8139', 'NUP98_NSD1', '', 'NUP98', 'NSD1', '21813447', '15', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'In this study, high-resolution genome-wide copy number analyses revealed cryptic NUP98/NSD1 translocations in 3 of 92 cytogenetically normal (CN)-AML cases.     ///    4-year event-free survival was < 10% for both pediatric and adult NUP98/NSD1-positive AML patients.     ///    \"Taken together, NUP98/NSD1 identifies a previously unrecognized group of young AML patients, with distinct characteristics and dismal prognosis, for whom new treatment strategies are urgently needed.. \"    ///    \"NUP98/NSD1-positive AML cases had significantly higher white blood cell counts (median, 147 ?? 10?/L), more frequent FAB-M4/M5 morphology (in 63%), and more CN-AML (in 78%), FLT3/internal tandem duplication (in 91%) and WT1 mutations (in 45%) than NUP98/NSD1-negative cases. \"    ///    NUP98/NSD1 was mutually exclusive with all recurrent type-II aberrations.     ///    \"Importantly, NUP98/NSD1 was an independent predictor for poor prognosis. \"    ///    NUP98/NSD1 characterizes a novel poor prognostic group in acute myeloid leukemia with a distinct HOX gene expression pattern..     ///    \"To determine their exact frequency, we screened > 1000 well-characterized pediatric and adult AML cases using a NUP98/NSD1-specific RT-PCR. \"    ///    \"Twenty-three cases harbored the NUP98/NSD1 fusion, representing 16.1% of pediatric and 2.3% of adult CN-AML patients. \"    ///    \"NUP98/NSD1-positive AML showed a characteristic HOX-gene expression pattern, distinct from, for example, MLL-rearranged AML, and the fusion protein was aberrantly localized in nuclear aggregates, providing insight into the leukemogenic pathways of these AMLs. \"'), ('8140', 'EF-Tu_EF-Ts', '', 'EF-Tu', 'EF-Ts', '8736554', '15', '', '', '', '', '', '', '', '', '', 'Asp83 has a conformation similar to the conformation of the corresponding residue in the EF-Tu/EF-Ts complex. '), ('8141', 'SYT_SSX', '', 'SYT', 'SSX', '23938063', '15', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'The SSs were tested for the SYT-SSX translocation using RT-PCR.     ///    There was no association between the SYT-SSX type and SS responses to TM-HILP. '), ('8142', 'SYT_SSX', '', 'SYT', 'SSX', '11910511', '15', 'neurofibroma;peripheral nerve sheath tumors', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'To detect the t(X;18) translocation product, SYT-SSX, total RNA was extracted from frozen archival tumors (15 dermal neurofibromas, 4 plexiform neurofibromas, and 7 MPNSTs) using Trizol.     ///    The RNA was then subjected to reverse-transcriptase polymerase chain reaction (RT-PCR) to specifically amplify SYT-SSX.     ///    \"None of the dermal neurofibromas, plexiform neurofibromas, or MPNSTs analyzed were positive for SYT-SSX mRNA. \"'), ('8143', 'TEL_AML1', '', 'TEL', 'AML1', '26516359', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', '', '', '', 'TEL/AML1. '), ('8144', 'PTEN_AKT1', '', 'PTEN', 'AKT1', '24832083', '15', 'colorectal cancer;adenocarcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', 'Tumor_suppressor', '', '', '', '', 'Phosphorylation of ?-catenin at Ser552 via the miR-21-mediated PTEN/AKT axis plays a critical role in ?-catenin nuclear translocation in APC-mutated cells but not in APC-wild-type cells. '), ('8145', 'TFE3_ASPSCR1', '', 'TFE3', 'ASPSCR1', '25268941', '15', 'renal cell carcinoma;alveolar soft part sarcoma;sarcoma\r\r', '', '', 'Oncogene', '', '', '', 'KB', '', 'Metastatic ASPS was confirmed by demonstration of an ASPSCR1-TFE3 fusion and imaging studies that excluded metastatic Xp11.2 translocation renal cell carcinoma. '), ('8146', 'TRK_T1', '', 'TRK', 'T1', '11126359', '15', 'papillary carcinoma;thyloid cancer\r\r', '', '', '', '', '', '', '', '', 'Immunohistochemical analysis of TRK-T1 transgenic mouse thyroids revealed TRK-T1 staining within the thyroid follicular epithelium.     ///    These data support the conclusion that TRK-T1 is oncogenic in vivo and contributes to the neoplastic transformation of the thyroid..     ///    \"To determine if TRK-T1 expression can cause thyroid cancer in vivo, we developed transgenic mice that express the human TRK-T1 fusion protein in the thyroid. \"    ///    The TRK-T1 fusion protein induces neoplastic transformation of thyroid epithelium.. '), ('8147', 'CD34_CD19', '', 'CD34', 'CD19', '25538041', '15', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'In MLL-AF4 patients, CD34(+)CD38(+)CD19(+) and CD34(-)CD19(+) cells initiated leukemia, and in MLL-AF9 patients, CD34(-)CD19(+) cells were LICs. '), ('8148', 'DUX4_CIC', '', 'DUX4', 'CIC', '27180056', '15', 'desmoplastic small round cell tumor', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'The CIC-DUX4 translocation was found in six Ewing-like tumors (3%) with CD99 positivity.     ///    \"The incidence of CIC-DUX4, BCOR-CCNB3 and CIC-FOX04 transcripts was relatively low. \"    ///    \"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. \"'), ('8149', 'P14_P12', '', 'P14', 'P12', '2991749', '15', '', '', '', '', '', '', '', '', '', 'In situ hybridization to chromosomes from normal cells and A431 cells show that both the EGF receptor gene and the unidentified DNA are localized to the p14-p12 region of chromosome 7. '), ('8150', 'EML4_ALK', '', 'EML4', 'ALK', '23394083', '15', 'non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Crizotinib, an orally ALK and met proto-oncogene (MET) inhibitor, was very well tolerated and produced dramatic antitumor activity in early-stage trials which facilitated a faster than normal move into late-stage trials for EML4-ALK -positive NSCLC patients treatment. '), ('8151', 'MYST3_CBP', 't(10;16)  / t(10;16)(q22;p13) / t(11;17)(q23;q21) / ', 'MYST3', 'CBP', '15147375', '15', '', '', '', '', '', '', '', '', '', 'The potential resulting chimaeric proteins showed similarities with MYST3-CBP, MYST3-P300 and MYST3-NCOA2 putative fusion proteins found in other cases of AML.. '), ('8152', 'RAC1_CDC42', '', 'RAC1', 'CDC42', '12515716', '15', '', '', '', '', '', '', '', '', '', 'The gene encoding the putative rac1/cdc42 effector protein IQGAP2 was identified within the PAR gene cluster at 5q13, flanked telomeric by PAR1 and encompassing PAR3. '), ('8153', 'TPM3_PDGFRB', '', 'TPM3', 'PDGFRB', '21072821', '15', 'leukemia\r\r', 'PCR', 'Kinase', '', '', 'Receptor', '', 'KB', '', 'Targeted therapy with imatinib induced a rapid hematologic response and reduction of TPM3-PDGFRB transcripts as monitored by reverse transcription real-time PCR (RT-qPCR).     ///    Molecular diagnosis and targeted therapy of a pediatric chronic eosinophilic leukemia patient carrying TPM3-PDGFRB fusion..     ///    \"Sequencing analysis confirmed a TPM3-PDGFRB fusion, and the breakpoint was the same as adult patient. \"'), ('8154', 'CD19_CD10', '', 'CD19', 'CD10', '12446447', '15', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Contrary to the expectation, circulating CD34(+)CD19(-)CD10(+) cells are essentially devoid of Pax-5(+) BCP. '), ('8155', 'TLR4_MYD88', '', 'TLR4', 'MYD88', '15718493', '15', '', '', '', 'Oncogene', '', '', '', '', '', 'Chemokine MIP-2 but not MCP-1 secretion depended on TLR4/MyD88, ERK1/2, and PI3K signaling. '), ('8156', 'PPARG_PAX8', '', 'PPARG', 'PAX8', '16444351', '14', 'thyloid cancer;follicular adenoma\r\r', '', '', '', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Another finding in FTC is mutations on the RAS gene, which excludes PAX8-PPARgamma rearrangements.     ///    \"however, the presence of PAX8-PPARgamma is also demonstrated in follicular adenomas. \"    ///    \"Therefore, there is no complete evidence that PAX8-PPARgamma is the cause of FTC. \"'), ('8157', 'TAL1_SIL', '', 'TAL1', 'SIL', '8350619', '14', 'T cell lymphoma;T ALL;leukemia;lymphoma\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'SIL-TAL1 deletion in T-cell acute lymphoblastic leukemia..     ///    \"Here we used a polymerase chain reaction (PCR) assay to identify the 90 kb SIL-TAL1 deletion in a group of 19 cutaneous T-cell lymphomas and a series of 142 T-ALL patients (76 children, 66 adults). \"    ///    \"While none of the T-cell lymphoma exhibited a SIL-TAL1 recombination, seven T-ALL cases showed a type d1 and two patients a type d2 deletion. \"    ///    Sequence analysis of SIL-TAL1 breakpoints revealed marked heterogeneity at the junctional region among the nine patients due to random deletion and insertion of N-region nucleotides or templated P-nucleotide addition mediated via illegitimate V(D)J recombinase action. '), ('8158', 'BCR_ABL1', 't(9;14)(q34;q32) / ', 'BCR', 'ABL1', '15713800', '14', 'acute lymphoblastic leukemia;chronic myeloid leukemia;T ALL;myeloid leukemia;lymphoblastic leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', ' The BCR-ABL1 fusion kinase is frequently associated with chronic myeloid leukemia and B-cell acute lymphoblastic leukemia but is rare in T-cell acute lymphoblastic leukemia (T-ALL).     ///    EML1-ABL1 and breakpoint cluster region (BCR)-ABL1 were equally sensitive to the tyrosine kinase inhibitor imatinib. '), ('8159', 'NUP214_ABL1', '', 'NUP214', 'ABL1', '15361874', '14', 'T ALL\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The recurrent cryptic NUP214-ABL1 rearrangement is associated with increased HOX expression and deletion of CDKN2A, consistent with a multistep pathogenesis of T-ALL.     ///    \"We detected the NUP214-ABL1 transcript in five individuals with the ABL1 amplification, in 5 of 85 (5.8%) additional individuals with T-ALL and in 3 of 22 T-ALL cell lines. \"    ///    NUP214-ABL1 expression defines a new subgroup of individuals with T-ALL who could benefit from treatment with imatinib..     ///    The constitutively phosphorylated tyrosine kinase NUP214-ABL1 is sensitive to the tyrosine kinase inhibitor imatinib. '), ('8160', 'MLL_FRYL', 't(4;11)(p12;q23) / ', 'MLL', 'FRYL', '18195096', '14', 'myelodysplastic syndrome;leukemia;neuroblastoma\r\r', '', '', '', '', '', '', '', 'Seq', 'MLL-FRYL did not increase MEIS1 expression, conferred a proliferative advantage without altering differentiation, and had protracted latency to disease..     ///    Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome.. '), ('8161', 'PTD_MLL', '', 'PTD', 'MLL', '23054645', '14', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'MLL fusions and MLL-PTD are transcriptional regulators that take control of targets normally controlled by MLL, with the clustered HOX homeobox genes as prominent examples.     ///    \"Although the biological function and molecular mechanism for MLL-PTD remains largely unknown, based on the primary protein structure of MLL-PTD and the knowledge gained so far from MLL fusions, newly developed inhibitors of epigenetic regulators could potentially also prove effective in the treatment of MLL-PTD related leukemias.. \"    ///    \"MLL-PTD occurs predominantly in myeloid dysplasia syndromes, secondary AML (s-AML), and de novo AML. \"    ///    \"As a consequence, an extra amino-terminus is added in-frame to full-length MLL, resulting in leukemogenic MLL-PTD. \"'), ('8162', 'MAPK3_P42', '', 'MAPK3', 'P42', '11713104', '14', 'pulmonary fibrosis', 'PCR;RT-PCR', 'Kinase', '', '', '', '', '', '', 'Bleomycin activated p42/p44 mitogen-activated protein kinase (MAPK) and induced nuclear translocation and activation of the early growth response (Egr)-1 transcription factor, a factor previously shown to positively regulate ACE expression. '), ('8163', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '21346698', '14', 'hypereosinophilic syndrome\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Corticosteroids remain the first-line therapeutic option for patients who do not have FIP1L1-PDGFRA fusion transcript, but treatment discontinuation leads to the recurrence of eosinophilia. '), ('8164', 'CMC4_MTCP1', '', 'CMC4', 'MTCP1', '8570215', '14', 'ataxia telangiectasia\r\r', '', '', '', '', '', '', '', '', 'T-PLL is also seen in non-A-T individuals where expression of either TCL1 (at 14q32) or the c6.1B/MTCP1 A1 transcript (at-Xq28) has been demonstrated in just a few instances.     ///    \"Expression of either the TCL1 oncogene, or transcripts from its homologue MTCP1/c6.1B, in leukaemic and non-leukaemic T cells from ataxia telangiectasia patients.. \"'), ('8165', 'PTN_MDK', '', 'PTN', 'MDK', '22079049', '14', '', '', '', '', '', '', '', '', '', 'The JTB structure has a distant relationship to the midkine/pleiotrophin fold, particularly in the conservation of distinctive disulfide bridge patterns. '), ('8166', 'TLS_ERG', '', 'TLS', 'ERG', '17357482', '14', 'chronic lymphoblastic leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In our hand, 12 of 29 chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AML1/ETO, MLL/AF9, BCR/ABL, MLL/MLL, PML/RARu, TLS/ERG, E2A/HLF, EVI1 and HOXI1 were detected in 57 cases (63.3 %) of the 90 samples, which were in consistency with the results of karyotypic analysis. '), ('8167', 'TL1_PGD2', '', 'TL1', 'PGD2', '24196044', '14', '', '', '', '', '', '', '', '', '', 'The data indicated the marker order: ts1 - Gpi-R1 - is1 - T273W/Mdh-R1 - il1 - Pgd2 - tl1. '), ('8168', 'RUNX1_MOZ', '', 'RUNX1', 'MOZ', '12771199', '14', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The regulation of MIP-1alpha expression by RUNX1/MOZ is discussed in the context of MIP-1alpha\'s role as an inhibitor of haematopoietic stem cell proliferation and its potential importance in leukaemias associated with RUNX1 or MOZ chromosomal rearrangements.. '), ('8169', 'DEK_CAN', '', 'DEK', 'CAN', '12791658', '14', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Real-time quantification of FLT3 in 141 cases of AML showed that all cases with FLT3 D835 express high level transcripts, whereas FLT3-ITD AML can be divided into cases with high-level FLT3 expression, which belong essentially to the monocytic lineage, and those with relatively low-level expression, which predominantly demonstrate PML-RARA and DEK-CAN. '), ('8170', 'MSS_APC', '', 'MSS', 'APC', '18000373', '14', 'colorectal cancer\r\r', '', '', '', 'Tumor_suppressor', '', '', '', '', 'It was demonstrated that UPD seems to be involved in activation of early-acting tumor suppressor genes in MSS- (APC, CDKN2A) and MSI- (MLH1, MSH2, APC, CDKN2A) colorectal cancer cell lines. '), ('8171', 'MEK_ERK', '', 'MEK', 'ERK', '15703833', '14', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'These data suggest that I-2PP2A/SET negatively regulates cell growth by inhibiting the G1/S transition and inhibiting the MEK/ERK pathway stimulated by external stimuli.     ///    \"By contrast, knocking down I-2PP2A/SET by siRNA resulted in enhancement of ERK and MEK activations, suggesting that I-2PP2A/SET negatively regulates MEK/ERK. \"    ///    The oncoprotein I-2PP2A/SET negatively regulates the MEK/ERK pathway and cell proliferation.. '), ('8172', 'TAL1_SIL', '', 'TAL1', 'SIL', '23904235', '14', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Other, non-T-cell receptor chromosomal aberrations, such as SIL-TAL1 deletions, have likewise been recognized as V(D)J recombination associated aberrations. '), ('8173', 'TSN_RBP', '', 'TSN', 'RBP', '11679747', '14', '', '', '', '', '', '', '', '', '', 'TB-RBP/translin has been crystallized in space group P2(1)2(1)2. '), ('8174', 'PCNT_DISC1', '', 'PCNT', 'DISC1', '17664024', '14', '', '', '', '', '', '', '', '', '', 'On the other hand, the DISC1-Kendrin interaction is suggested to be involved in microtubule network formation and an association between single-nucleotide polymorphisms of the Kendrin gene and bipolar disease has also been suggested in a Japanese population. '), ('8175', 'MLT_API2', 't(11;18)(q21;q21) / t(11;18) / t(11;18)  / ', 'MLT', 'API2', '11066071', '14', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The clustering of breaks in intron 7 of API2 and the consistent \"in frame\" API2-MLT fusions could therefore reflect certain functional constraints crucial for clonal outgrowth..     ///    Our data suggest that the API2-MLT fusion might result from a non-homologous end joining event after multiple double-strand breaks.     ///    \"Hitherto the chimeric API2-MLT transcripts are all \"\"in-frame\"\" and predominantly fuse exon 7 of API2 to different MLT exons. \"'), ('8176', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19212347', '14', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'The TMPRSS2:ERG genetic rearrangement has been reported to occur in approximately 40% of primary prostate tumours (ETV1 genetic rearrangements occur at a much lower frequency), and it results in the aberrant androgen-regulated expression of ERG. '), ('8177', 'NID67_CD74', '', 'NID67', 'CD74', '19966810', '14', 'hematological malignancy\r\r', '', '', '', '', '', '', '', '', 'Haploinsufficiency of the Cd74-Nid67 interval (containing Rps14, encoding the ribosomal protein S14) caused macrocytic anemia, prominent erythroid dysplasia and monolobulated megakaryocytes in the bone marrow. '), ('8178', 'TP53_SMAD4', '', 'TP53', 'SMAD4', '18000373', '14', 'colorectal cancer\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'TP53/SMAD4) were not found to be inactivated by UPD. '), ('8179', 'IGH_BCL2', '', 'IGH', 'BCL2', '11920254', '14', '', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Despite the presence of BCL-2/IgH rearrangements, the accumulation of B lymphocytes in PPBL is not related to an overexpression of BCL-2 protein..     ///    No BCL-2 protein over expression but BCL-2/IgH rearrangements in B cells of patients with persistent polyclonal B-cell lymphocytosis..     ///    \"We demonstrated: (a) the constant presence of BCL-2/IgH rearrangements in eight out of eight DNA samples, (b) multiple rearrangements in three out of eight cases and, (c) normal BCL-2 protein expression, as compared to BCL-2 level in B-lymphocytes from healthy population. \"    ///    \"We studied the presence of BCL-2/IgH rearrangements in a series of eight PPBL patients (seven females and one male) by a nested polymerase chain reaction (PCR), targeting the Major Breakpoint Region in BCL-2 locus and we explored the BCL-2 protein expression by Western blot. \"'), ('8180', 'SREBP2_SCAP', '', 'SREBP2', 'SCAP', '18752326', '14', 'fatty livers;non alcoholic fatty liver disease', 'PCR', '', '', '', '', '', '', '', 'Confocal microscopy showed that IL-1beta increased the translocation of SCAP/SREBP-2 complex from endoplasmic reticulum (ER) to Golgi in HepG2 cells, thereby activating LDLr gene transcription. '), ('8181', 'NR2A_NR1', '', 'NR2A', 'NR1', '20890276', '14', '', '', '', '', '', '', '', '', '', 'Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg??(+) block and a decrease in Ca??(+) permeability. '), ('8182', 'SYT_SSX', '', 'SYT', 'SSX', '12065770', '14', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', ' To verify the absence of the synovial sarcoma translocation t(X;18) (SYT-SSX) in malignant peripheral nerve sheath tumors, 34 tumor samples from 25 neurofibromatosis type 1 patients were examined in two independent laboratories (Bordeaux, France, and Lausanne, Switzerland) using reverse transcriptase polymerase chain reaction (RT-PCR)-based techniques.     ///    \"In conclusion, malignant peripheral nerve sheath tumors in neurofibromatosis type 1 patients do not bear the synovial sarcoma t(X;18) (SYT-SSX). \"'), ('8183', 'RET_PTC3', '', 'RET', 'PTC3', '22654872', '14', 'thyroid nodule;thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Up to now, 13 different types of RET/PTC rearrangements have been reported but the two most common are RET/PTC1 and RET/PTC3.     ///    \"Ionizing radiations are responsible for the generation of RET/PTC rearrangements, as supported by in vitro studies and by the evidence that RET/PTC, and particularly RET/PTC3, are highly prevalent in radiation induced PTC. \"    ///    \"RET/PTC3 is usually associated with a more aggressive phenotype and in particular with a greater tumor size, the solid variant, and a more advanced stage at diagnosis which are all poor prognostic factors. \"'), ('8184', 'HLF_E2A', '', 'HLF', 'E2A', '17357482', '14', 'chronic lymphoblastic leukemia', 'PCR;RT-PCR', '', 'Oncogene', '', '', '', '', '', 'In our hand, 12 of 29 chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AML1/ETO, MLL/AF9, BCR/ABL, MLL/MLL, PML/RARu, TLS/ERG, E2A/HLF, EVI1 and HOXI1 were detected in 57 cases (63.3 %) of the 90 samples, which were in consistency with the results of karyotypic analysis. '), ('8185', 'SET_CAN', '', 'SET', 'CAN', '8131851', '14', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'SET is fused to a putative oncoprotein, CAN, in AUL and is thought to regulate the transformation potential of SET-CAN by its nuclear localization and phosphorylation. '), ('8186', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '22217495', '14', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'This study explores the feasibility of demonstrating translocation ETV6-RUNX1 transcripts by reverse transcription polymerase chain reaction in newborns enrolled in a large Danish National Birth Cohort. '), ('8187', 'IGF2_H19', '', 'IGF2', 'H19', '10545601', '14', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'We have shown previously that an Igf2/H19 transgene is expressed appropriately and can imprint at ectopic chromosomal locations. '), ('8188', 'RAR_PL', 't(8;21)  / ', 'RAR', 'PL', '23970379', '14', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'On the other hand, autophagy may contribute to degradation of fusion oncoproteins, as recently demonstrated for promyelocytic leukemia-retinoic acid receptor ? and breakpoint cluster region-abelson, thereby facilitating leukemia treatment. '), ('8189', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '26935606', '14', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'To examine the function of such fusion genes, an expression plasmid containing the TMPRSS2:ERG (T1/E5) sequence (??RG) from a patient sample was constructed and transiently transfected into DU145 cells, which do not express the fusion gene.     ///    \"By contrast, VCaP cells, which do contain TMPRSS2:ERG, were sensitized to cisplatin??nduced apoptosis through siRNA inhibition of the fusion gene. \"'), ('8190', 'HSCS_CD38', 't(8;21)  / ', 'HSCS', 'CD38', '25101977', '14', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'However, in remission, 16 out of 1,728 CD34(+)CD38(-) HSCs and 89 out of 7,187 single HSC-derived myeloerythroid colonies from these patients had AML1/ETO, whose breakpoints were identical to those found in LSCs. '), ('8191', 'SYT_SSX', '', 'SYT', 'SSX', '17895746', '14', 'chondrosarcoma;synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'In 4 tumors reverse transcriptase-polymerase chain reaction was performed to detect the SYT-SSX fusion transcript produced by the t(x;18), and the ETV6-NTRK3 fusion transcript using RNA extracted from archived paraffin blocks-results were negative in all 4 specimens. '), ('8192', 'PWCR1_HBII-85', '', 'PWCR1', 'HBII-85', '12154412', '14', 'Prader Willi syndrome', 'RT-PCR', '', '', '', '', '', '', '', 'The subset of SNRPN-encoded snoRNAs within this region comprises the PWCR1/HBII-85 cluster of snoRNAs and the single HBII-438A snoRNA.     ///    \"Most important, we show that the PWCR1/HBII-85 snoRNAs are not expressed in fibroblasts of this individual. \"    ///    Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.. '), ('8193', 'RARA_PML', '', 'RARA', 'PML', '12791658', '14', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Real-time quantification of FLT3 in 141 cases of AML showed that all cases with FLT3 D835 express high level transcripts, whereas FLT3-ITD AML can be divided into cases with high-level FLT3 expression, which belong essentially to the monocytic lineage, and those with relatively low-level expression, which predominantly demonstrate PML-RARA and DEK-CAN.     ///    Variant CBFbeta-MYH11 fusions and bcr3 PML-RARA may also be initiated by similar mechanisms.. '), ('8194', 'EWS_CHOP', 't(12;16)(q13;p11) / t(12;22)(q13;q12) / ', 'EWS', 'CHOP', '20093386', '14', 'liposarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Using RT-PCR, the detailed molecular characteristics of the FUS-CHOP and EWS-CHOP breakpoints were determined. '), ('8195', 'ETO_AML1', '', 'ETO', 'AML1', '17357482', '14', 'chronic lymphoblastic leukemia', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In our hand, 12 of 29 chromosomal translocation transcripts including TEL/PDGFR, DEK/CAN, MLL/AF6, AML1/ETO, MLL/AF9, BCR/ABL, MLL/MLL, PML/RARu, TLS/ERG, E2A/HLF, EVI1 and HOXI1 were detected in 57 cases (63.3 %) of the 90 samples, which were in consistency with the results of karyotypic analysis. '), ('8196', 'NTD_EWS', 't(11;22) (q24;q12) / ', 'NTD', 'EWS', '7503813', '14', 'erythroleukemia', '', '', '', '', '', '', '', '', 'We therefore propose that replacement of the amino terminal transcriptional activation domain of the Fli-1 protein with the regulatory domain of NTD-EWS results in the activation of the carboxy terminal transcriptional activation domain of Fli-1 which may be the molecular mechanism involved in these human tumors..     ///    \"Because part of the amino terminal transcriptional activation domain of Fli-1 was replaced with the amino terminal domain of the EWS (NTD-EWS) which shares homology with RNA polymerase II, it was speculated that NTD-EWS may interfere with RNA pol II function. \"    ///    \"Alternatively, NTD-EWS could also contribute to the transcriptional activation function of EWS/Fli-1 chimeric protein by providing either a modulatory/regulatory domain or a novel transcriptional activation domain. \"'), ('8197', 'PAX3_FOXO1A', '', 'PAX3', 'FOXO1A', '22710712', '13', 'rhabdomyosarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Together, these observations reveal that PAX3/FOXO1A and PAX7/FOXO1A act to prevent myogenic differentiation via suppression of the transcriptional activation of MyoD-target genes..    ///    \"PAX3/FOXO1A or PAX7/FOXO1A did not inhibit the transcriptional activity of MyoD by perturbing MyoD expression, localization, phosphorylation or interaction with E-proteins.\"    ///    \"As PAX3 and PAX7 are part of transcriptional networks that regulate muscle stem cell function in utero and during early postnatal life, PAX3/FOXO1A and PAX7/FOXO1A may subvert normal PAX3 and PAX7 functions.\"    ///    \"Upon ectopic PAX3/FOXO1A expression, together with other genetic manipulation in mice, both differentiating myoblasts and satellite cells (the resident stem cells of postnatal muscle) can give rise to tumours with ARMS characteristics.\"    ///    Chromatin immunoprecipitation on the myogenin promoter showed that PAX3/FOXO1A or PAX7/FOXO1A did not prevent MyoD from binding.'), ('8198', 'RARA_PML', 't(15;17)  / ', 'RARA', 'PML', '7534109', '13', 'acute promyelocytic leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Furthermore, APL develops only when the PML and RARA genes are rearranged, within restricted genomic regions and a functional PML-RARA chimeric product is produced, and this might lead to a clustering of the breakpoints.. '), ('8199', 'EML4_ALK', '10p11.22 / ', 'EML4', 'ALK', '22194472', '13', 'adenocarcinoma;non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The cancer showed no known driver mutation in EGFR or KRAS and no EML4-ALK fusion. '), ('8200', 'MLL_AF9', '', 'MLL', 'AF9', '8630416', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', '', '', '', '', '', '', 'RT-PCR characterization of 11 cases showed four MLL self-fusions, four MLL-AF6, two MLL-AF9, including a novel AF9 breakpoint, and one uncharacterized t(11:19). '), ('8201', 'RET_KIF5B', '10p11.22 / ', 'RET', 'KIF5B', '22194472', '13', 'adenocarcinoma;non small cell lung cancer', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We identified the KIF5B-RET fusion in two more cases out of 20 primary lung adenocarcinomas in the replication study. '), ('8202', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '21863054', '13', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.. '), ('8203', 'TAL1_SCL', 't(8;14) (q24;q11) / ', 'TAL1', 'SCL', '12130513', '13', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia;hematologic malignancy\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The main genes are TAL1/SCL, a member of the basic region helix-loop-helix gene family, and HOX11L2, a member of the homeobox-containing protein family.     ///    SIL-TAL1/SCL fusion was detected in 6 patients. '), ('8204', 'SMRT_NCOR1', '1p36.3 / ', 'SMRT', 'NCOR1', '11781823', '13', '', '', '', '', '', '', 'Transcription_Factor', '', '', ' The c-ski proto-oncogene product (c-Ski) acts as a co-repressor and binds to other co-repressors N-CoR/SMRT and mSin3A which form a complex with histone deacetylase (HDAC). '), ('8205', 'E2A_AD1', 't(1;19)  / t(8;21)  / ', 'E2A', 'AD1', '24064250', '13', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Replacing E2A-AD1 with HEB-AD1 abolished the ability of E2A-Pbx1 to activate target genes and to induce cell transformation. '), ('8206', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '10369881', '13', '', '', '', '', '', '', '', '', '', 'LOH mapping showed that the entire domain, including IGF2/H19, is within the minimal WT2 region.     ///    \"Multipoint analysis of human chromosome 11p15/mouse distal chromosome 7: inclusion of H19/IGF2 in the minimal WT2 region, gene specificity of H19 silencing in Wilms\' tumorigenesis and methylation hyper-dependence of H19 imprinting.. \"'), ('8207', 'P27_MIR222', 'del(5q)  / del(5q) / ', 'P27', 'MIR222', '19615744', '13', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', 'Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome.. '), ('8208', 'MUM1_IRF4', 't(11;14)(q13;q32) / ', 'MUM1', 'IRF4', '26360498', '13', 'B cell lymphoma;mantle cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'However, no differences in the expression of IRF4/MUM1 were observed among these subtypes of mantle cell lymphoma. '), ('8209', 'SMRT_NCOR1', 't(8;21) / t(12;21) / inv(16) / t(8;21)  / t(12;21)  / inv(16)  / ', 'SMRT', 'NCOR1', '11587363', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'We demonstrated that the fusion proteins encoded by these translocations contact the nuclear hormone corepressors (N-CoR/SMRT), mSin3A, and histone deacetylases. '), ('8210', 'RUNX1_ETO', 't(4;21)(q21;q22) / t(4;21)  / ', 'RUNX1', 'ETO', '22102704', '13', 'myelodysplastic syndrome;hematopoietic malignancy\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'More importantly, we explored and confirmed the possibility that this abrogation also prevented transactivation of RUNX1 target genes, perhaps confirming the genetic origin of the thrombocytopenia and the myelodysplastic features observed in our patient, and certainly mimicking what has been observed in the presence of the RUNX1/ETO fusion protein.. '), ('8211', 'MLL_ENL', 't(4;11) / ', 'MLL', 'ENL', '25793396', '13', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Genes that were down-regulated in response to the repression of MLL-AF4 and MLL-ENL appeared characteristically expressed in primary MLL-rearranged infant ALL samples, and often represented known MLL-AF4 targets genes.     ///    \"For this, we performed gene expression profiling after siRNA-mediated repression of MLL-AF4, MLL-ENL, and AF4-MLL in MLL-rearranged ALL cell line models. \"    ///    Genes that were up-regulated in response to the repression of MLL-AF4 and MLL-ENL often represented genes typically silenced by promoter hypermethylation in MLL-rearranged infant ALL. '), ('8212', 'HEB_AD1', 't(1;19)  / t(8;21)  / ', 'HEB', 'AD1', '24064250', '13', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Replacing E2A-AD1 with HEB-AD1 abolished the ability of E2A-Pbx1 to activate target genes and to induce cell transformation. '), ('8213', 'PRB_INK4A', 't(12;22)(p13;q11) / ', 'PRB', 'INK4A', '16081688', '13', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'MN1-TEL-positive T-lymphoid tumors showed elevated expression of the Notch-1, Hes-1, c-Myc, and Lmo-2 genes while their Ink4a/pRB and Arf/p53 pathways were impaired, suggesting that these alterations cooperatively transform T progenitors. '), ('8214', 'P12_LRRC1', '6p21.3 / ', 'P12', 'LRRC1', '12200217', '13', 'juvenile myoclonic epilepsy;tonic clonic convulsions', '', '', '', '', '', '', '', '', 'Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.. ');
INSERT INTO `ChimerPub_dump` VALUES ('8215', 'TEL_AML1', 't(12;21) (p13;q22) / t(12;21)(p13;q22) / t(12;21)  / ', 'TEL', 'AML1', '9031076', '13', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The crucial chimeric gene, TEL-AML1, is transcribed from the der(21) and encodes the 336 NH2 aminoacics of TEL fused to the majority of the AML1 protein. '), ('8216', 'MIR150_MYB', 'del(5q)  / del(5q) / ', 'MIR150', 'MYB', '19615744', '13', 'myelodysplastic syndrome\r\r', '', '', '', '', '', '', '', '', 'Significant inverse correlation of microRNA-150/MYB and microRNA-222/p27 in myelodysplastic syndrome.. '), ('8217', 'TCRD_LMO2', '', 'TCRD', 'LMO2', '17557895', '13', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'These markers included various first- and second-hit genetic alterations (TCRD-LMO2 breakpoint regions, n = 2. '), ('8218', 'STAT3_BTK', 't(4;11)  / ', 'STAT3', 'BTK', '17367410', '13', '', '', 'Kinase', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'The BTK/STAT3 interaction appeared to prevent STAT3 response to oxidative stress, because PV-induced STAT3 activation was markedly enhanced in DT40 chicken lymphoma B-cells that were rendered BTK-deficient by targeted disruption of the btk gene as well as in BTK-deficient RAMOS-1 human lymphoma B-cells. '), ('8219', 'DDB1_CRBN', 'del(5q)  / ', 'DDB1', 'CRBN', '26909574', '13', 'myelodysplastic syndrome;multiple myeloma\r\r', '', '', '', '', '', '', '', '', 'Here we present the 2.45 ? crystal structure of DDB1-CRBN bound to lenalidomide and CK1?. '), ('8220', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '11433527', '13', 'synovial sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In the present study, RT-PCR analysis showed that all 64 examined synovial sarcomas from 54 patients had SYT-SSX chimeric genes. '), ('8221', 'TFE3_ASPL', 'p11.2;q25 / ', 'TFE3', 'ASPL', '17001165', '13', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'The ASPL-TFE3 fusion protein encoded by the fusion transcript can be detected immunohistochemically with commercially available antibodies to the carboxy terminus of TFE3. '), ('8222', 'RAN_MAD2B', 'p11;q21 / ', 'RAN', 'MAD2B', '19753112', '13', 'renal cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The MAD2B-RAN interaction was found to persist throughout the cell cycle. '), ('8223', 'BCL2_IG', 't(14;18)  / ', 'BCL2', 'IG', '1890741', '13', 'non Hodgkin Lymphoma', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The fused bcl-2-Ig gene generates chimeric mRNAs which consist of bcl-2 at 5\' side and Ig at 3\' side. '), ('8224', 'CDKN2B_CDKN2A', '9p21.3 / ', 'CDKN2B', 'CDKN2A', '19214202', '13', 'aggressive periodontitis', '', 'Kinase', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'The two associated linkage disequilibrium regions map to the sequence of the large antisense noncoding RNA ANRIL, which partly overlaps regulatory and coding sequences of CDKN2A/CDKN2B. '), ('8225', 'NPRL2_G21', '3p21.3 / ', 'NPRL2', 'G21', '20193080', '13', 'squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', '', 'Kinase', '', '', '', '', '', '', 'Simultaneous down-regulation of tumor suppressor genes RBSP3/CTDSPL, NPRL2/G21 and RASSF1A in primary non-small cell lung cancer.. '), ('8226', 'STS_EST', 'Chr2p13-14 / ', 'STS', 'EST', '12174196', '13', '', '', '', '', '', '', '', '', '', 'We investigated the wobbler critical region by extensive STS/EST mapping and genomic sequencing. '), ('8227', 'HDAC1_ETO', 't(8;21)  / ', 'HDAC1', 'ETO', '17389244', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'We report here that VPA treatment disrupts the AML1/ETO-HDAC1 physical interaction, stimulates the global dissociation of AML1/ETO-HDAC1 complex from the promoter of AML1/ETO target genes, and induces relocation of both AML1/ETO and HDAC1 protein from nuclear to perinuclear region. '), ('8228', 'SYT_SSX', 'p11;q11 / ', 'SYT', 'SSX', '11782370', '13', 'synovial sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Overall, SYT-SSX fusion type appears to be the single most significant prognostic factor by multivariate analysis in patients with localized disease at diagnosis.     ///    Impact of SYT-SSX fusion type on the clinical behavior of synovial sarcoma: a multi-institutional retrospective study of 243 patients..     ///    \"In addition, the associations of SYT-SSX fusion type with patient sex and tumor epithelial differentiation point to interesting mechanistic biological differences.. \"    ///    SYT-SSX fusion type also appears to exert part of its impact on prognosis before presentation through its association with stage at diagnosis.     ///    \"To address this issue more definitively, we collected data on SYT-SSX fusion type, pathology, and clinical course in a retrospective multi-institutional study of 243 patients (age range, 6-82) with synovial sarcoma. \"    ///    \"In a Cox regression analysis considering all of the factors, SYT-SSX fusion type emerged as the only independent significant factor (P = 0.04) for overall survival within the subset of 133 patients with localized disease at diagnosis who had information on all of the factors. \"'), ('8229', 'BMAL1_MOP3', '12p11.22 / ', 'BMAL1', 'MOP3', '10864977', '13', '', '', '', '', '', '', '', '', '', 'This protein displays significant homology to the Drosophila circadian factor CYCLE and its putative mammalian ortholog MOP3/bMAL1. '), ('8230', 'CARP_ANKRD1', '', 'CARP', 'ANKRD1', '18273862', '13', 'total anomalous pulmonary venous return', '', '', '', '', '', 'Transcription_Factor', '', '', 'In vitro calpain-mediated degradation assays, coupled to reporter gene analysis in transfected HeLa cells, strongly suggested that this mutation enhances both the stability of the ANKRD1/CARP protein and its transcriptional repression activity upon the cardiac-specific atrial natriuretic factor (ANF) promoter. '), ('8231', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '19151717', '13', 'lung cancer;melanoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.. '), ('8232', 'AE3_AE1', 't(11;22)  / ', 'AE3', 'AE1', '18769338', '13', 'squamous cell carcinoma\r\r', '', '', '', '', '', '', '', '', 'The tumor showed diffuse expression of CD99, high molecular weight keratin, p63, cytokeratin (CK) 5/6, AE1/AE3, CAM5.2, CK19, and focal CK14. '), ('8233', 'GTL2_DLK1', '11p15.5 / ', 'GTL2', 'DLK1', '15798773', '13', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'However, these changes are not associated with DLK1 LOI highlighting differences in the imprinting control mechanisms operating in the IGF2-H19 and DLK1-GTL2 domains.     ///    \"Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms\' tumour.. \"    ///    \"As described for IGF2/H19, epigenetic changes at DLK1/GTL2 occur in human cancers. \"'), ('8234', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '20558942', '13', 'pure red cell aplasia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FIP1L1/PDGFRA mRNA showed multiple alternatively-spliced fusion transcripts.     ///    Pure red cell aplasia associated with imatinib-treated FIP1L1-PDGFRA positive chronic eosinophilic leukemia.. '), ('8235', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '9819405', '13', 'acute myeloid leukemia', '', '', '', '', '', '', '', '', 'Deletion of the ETO C terminus abolishes CoR binding and HDAC recruitment and severely impairs the ability of AML1-ETO to inhibit differentiation of hematopoietic precursors.     ///    The fusion protein AML1-ETO retains the ability of ETO to form stable complexes with N-CoR/SMRT and HDAC. '), ('8236', 'IL23R_C1orf141', '1p31.2 / ', 'IL23R', 'C1orf141', '25108386', '13', 'Vogt Koyanagi Harada syndrome', '', '', '', '', '', '', '', '', 'We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 ?? 10(-21), odds ratio (OR) = 1.82. '), ('8237', 'NUP98_MLL', 'inv(11)(p15q23) / ', 'NUP98', 'MLL', '20558618', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'NUP98-MLL fusion in human acute myeloblastic leukemia.. '), ('8238', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '21771723', '13', 'lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Results of these analyses strongly suggest effects on risk from several loci in the TERT/CLPTM1L region.. '), ('8239', 'RARA_PLZF', 't(11;17)  / t(11;17) / del(5)(q13q33) / t(11;17)(q24;q23) / ', 'RARA', 'PLZF', '23147462', '13', 'acute myeloid leukemia;acute promyelocytic leukemia;myeloid leukemia;myelodysplastic syndrome;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', '', '', 'Molecular characterization of both cases failed to identify fusion transcripts involving MLL or PLZF-RARA and no collaborating somatic mutations commonly found among MDS patients were seen in either case, suggesting the presence of an as yet unidentified oncogenic fusion protein.. '), ('8240', 'ITGAX_ITGAM', '8p23.1 / 16p11.22 / ', 'ITGAX', 'ITGAM', '18204098', '13', 'systemic lupus erythematosus', '', '', '', '', '', '', '', '', 'Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX..     ///    We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.. '), ('8241', 'ETO_AML1', 't(8;21)  / ', 'ETO', 'AML1', '16228241', '13', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, treatment of AML with HDAC inhibitors such as D1 and DNMT inhibitors such as decitabine might have clinical benefit for patients, especially these presenting subtypes of AML, like AML1/ETO, in which the leukemogenic mechanism involves corepressor protein complexes containing HDAC and DNMT.. '), ('8242', 'NKG2C_NKG2', '12p12.3 / ', 'NKG2C', 'NKG2', '9598306', '13', '', '', '', '', '', '', '', '', '', 'In this report, we showed that the NKG2 and CD94 genes are localized in a small region (< 350 kb) and we mapped them in the following order: (NKG2-C/NKG2-A)/NKG2-E/NKG2-F/NKG2-D/CD 94. '), ('8243', 'PEG8_IGF2', '11p15.5 / ', 'PEG8', 'IGF2', '10731720', '13', 'Beckwith Wiedemann syndrome\r\r', '', '', '', '', '', '', '', '', 'Interestingly, PEG8/IGF2AS and IGF2 were found to be overexpressed in Wilms\' tumor samples, at levels over ten and a hundred times higher than that in normal kidney tissues neighboring the tumors, respectively. '), ('8244', 'SNAI1_CDH1', '4p15.3 / ', 'SNAI1', 'CDH1', '20068157', '13', 'breast cancer;lung cancer', '', '', '', '', '', '', '', '', 'Conversely, knocking down SLIT2 expression increased cell migration and reduced cell adhesion through coordinated deregulation of beta-catenin and E-cadherin/SNAI1 in the AKT/GSK3beta/betaTrCP pathway. '), ('8245', 'RARA_PML', 't(5;17)(q35;q12) / ', 'RARA', 'PML', '26342691', '13', 'acute promyelocytic leukemia;leukemia;sarcoma\r\r', '', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'As MS was also diagnosed in two of the seven other reported cases of APL with NPM1/RARA, MS may occur more frequently in APL with NPM1/RARA than APL with PML/RARA.. '), ('8246', 'OCT4_EWS', 't(6;22)(p21;q12) / ', 'OCT4', 'EWS', '19170206', '13', '', '', '', '', '', '', '', '', '', 'EWS-Oct-4 protein also associated with EWS-Oct-4 (V351P), which contains a mutation in the POU DNA-binding domain.     ///    \"Using electrophoretic mobility shift assays, we found that the EWS-Oct-4 (V351P) mutant interfered with wild-type EWS-Oct-4 DNA-binding activity. \"    ///    These findings suggest that the biological functions of the EWS-Oct-4 oncogene can be modulated by the dominant negative mutant EWS-Oct-4 (V351P)..     ///    \"Using in vitro and in vivo systems, we found that the EWS-Oct-4 protein self-associates. \"    ///     The EWS-Oct-4 protein is a chimeric molecule in which the amino terminal domain (NTD) of the EWS becomes fused to the carboxy terminal domain (CTD) of the Oct-4 transcription factor. '), ('8247', 'ITIH4_ITIH3', '1p21.3 / 8p23.2 / 6p21.32 / ', 'ITIH4', 'ITIH3', '21926974', '13', '', '', '', '', '', '', '', '', '', 'In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 ?? 10(-9)), ANK3 (rs10994359, P = 2.5 ?? 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 ?? 10(-9)).. '), ('8248', 'EGF_CFC', '3p22.1 / 3p21.3 / ', 'EGF', 'CFC', '25629528', '13', '', '', '', '', '', '', '', '', '', ' Cripto, the founding member of the EGF-CFC genes, plays an essential role in embryo development and is involved in cancer progression. '), ('8249', 'RNH_HRAS1', '11p15.5 / ', 'RNH', 'HRAS1', '7710782', '13', '', '', '', '', '', '', '', '', '', 'Furthermore, a single 80-kb P1 clone that bears all three genes was isolated and clarified the Not I restriction map for the HRAS1-RNH interval. '), ('8250', 'C8orf13_BLK', '8p23.1 / 16p11.22 / ', 'C8orf13', 'BLK', '18204098', '13', 'systemic lupus erythematosus', '', 'Kinase', '', '', '', '', '', '', 'Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.. '), ('8251', 'TRAX_DISC1', '', 'TRAX', 'DISC1', '10945471', '13', '', '', '', '', '', '', '', '', '', 'Demonstration that the various TRAX/DISC1 transcripts are translated awaits further experimentation.     ///    one encodes a novel TRAX/DISC1 fusion protein. '), ('8252', 'SMAD3_SKI', '1p36.32 / ', 'SMAD3', 'SKI', '19049980', '13', 'gastric cancer\r\r', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'MEL1 interacted with SKI and inhibited TGF-beta signaling by stabilizing the inactive Smad3-SKI complex on the promoter of TGF-beta target genes. '), ('8253', 'HOXA9_HOXA10', 'del(5)(q14) / ', 'HOXA9', 'HOXA10', '21261500', '13', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'HOXA9/HOXA10 activated expression of NMYC which in turn mediated MEF2C repression, indicating an indirect mode of regulation via NMYC interactor (NMI) and STAT5.     ///    \"Here, we analyzed the MEF2C 5\'-region, thus identifying potential regulatory binding sites for GFI1B, basic helix-loop-helix proteins, STAT5, and HOXA9/HOXA10. \"'), ('8254', 'P300_CBP', 't(1;19)  / t(8;21)  / ', 'P300', 'CBP', '24064250', '13', 'acute myeloid leukemia;acute lymphoblastic leukemia;myeloid leukemia;\r\r', '', '', '', '', '', '', '', '', 'Here, we show that, unlike the HEB E-protein, the activation domain 1 (AD1) of E2A has specifically reduced corepressor interaction due to E2A-specific amino acid changes in the p300/CBP and ETO target motif. '), ('8255', 'BCR1_PML-RAR', 't(15;17)  / ', 'BCR1', 'PML-RAR', '9242550', '13', 'acute promyelocytic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'By competition binding experiments we showed that 9-cis-RA binds with higher specificity to the bcr3-PML/RAR alpha isoform than to the bcr1-PML/RAR alpha or RAR alpha.     ///    \"Moreover, two different high-affinity 9-cis-RA binding sites (Kd = 0.45 and 0.075 nmol/L) were detectable in the bcr3-PML/RAR alpha product but not in the bcr1-PML/RAR alpha product (Kd = 0.77 nmol/L). \"    ///    \"Using saturation binding assays and Scatchard analyses we found that t-RA binds with slightly less affinity to the bcr3-PML/RAR alpha receptor than to bcr1-PML/RAR alpha or RAR alpha (Kd = 0.4 nmol/L, 0.13 nmol/L or 0.09 nmol/L, respectively). \"    ///    In the present study we have investigated the structural and functional properties of the bcr3-PML/RAR alpha in comparison to the previously characterized bcr1-PML/RAR alpha.     ///    \"However, in APL patients achieving complete remission with t-RA therapy the bcr3-PML/RAR alpha product has been found associated with a poorer prognosis than bcr1-PML/RAR alpha. \"'), ('8256', 'IGF2_H19', '11p15.5 / ', 'IGF2', 'H19', '15798773', '13', 'neuroblastoma\r\r', '', '', '', '', '', '', '', '', 'As described for IGF2/H19, epigenetic changes at DLK1/GTL2 occur in human cancers.     ///    \"However, these changes are not associated with DLK1 LOI highlighting differences in the imprinting control mechanisms operating in the IGF2-H19 and DLK1-GTL2 domains. \"'), ('8257', 'YY1_ANRIL', 'Chr9p21, /  / ', 'YY1', 'ANRIL', '26618242', '13', '', '', '', '', '', '', '', '', '', 'The newly identified TNF-?-NF-?B-ANRIL/YY1-IL6/8 pathway enhances understanding of the etiology of CAD and provides potential therapeutic target for treatment of CAD. '), ('8258', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '25966219', '13', 'lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Association of genetic polymorphisms in TERT-CLPTM1L with lung cancer in a Chinese population..     ///    \"However, whether genetic variants of TERT-CLPTM1L are associated with an increased risk of lung cancer in the Chinese Han population is unknown. \"    ///    The results of this study suggested that rs2736100 on TERT-CLPTM1L indicates a poor prognosis for lung cancer in the Chinese Han population..     ///    \"This study examined associations between five single nucleotide polymorphisms (SNPs) of TERT-CLPTM1L (rs402710, rs401681, rs465498, rs4975616, and rs2736100) and lung cancer in a Chinese Han population in the Hubei Province. \"'), ('8259', 'NRF2_KEAP1', '19p13.2 / ', 'NRF2', 'KEAP1', '17020408', '13', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Dysfunctional KEAP1-NRF2 interaction in non-small-cell lung cancer.. '), ('8260', 'TERT_CLPTM1L', '5p15.33 / 6p21.33 / ', 'TERT', 'CLPTM1L', '19465454', '13', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'The risk allele of rs402710 (TERT-CLPTM1L locus) was associated with significantly higher levels of bulky aromatic/hydrophobic DNA adducts (P = 0.02).     ///    These data demonstrate a potential association between the TERT-CLPTM1L variant and levels of bulky DNA adducts measured by (32)P-postlabeling and hence a basis for susceptibility to the development of lung cancer..     ///    The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung.. '), ('8261', 'TERT_CLPTM1L', '5p15.33 / ', 'TERT', 'CLPTM1L', '24386361', '13', 'squamous cell carcinoma;lung cancer;adenocarcinoma\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Nevertheless, the role of these TERT-CLPTM1L variants in the etiology of esophageal squamous cell carcinoma (ESCC) remains unknown. '), ('8262', 'FGFR1_CEP110', 't(8;9)(p12;q33) / ', 'FGFR1', 'CEP110', '10688839', '13', 'myeloproliferative disorder\r\r', '', 'Kinase', '', '', '', '', '', '', 'Transient expression studies show that the CEP110-FGFR1 protein has a constitutive kinase activity and is located within the cell cytoplasm.     ///    \"The CEP110-FGFR1 fusion protein encodes an aberrant tyrosine kinase of circa 150-kd, which retains most of CEP110 with the leucine zipper motifs and the catalytic domain of FGFR1. \"'), ('8263', 'CREB_CBP', '16p13.3 / ', 'CREB', 'CBP', '16786226', '13', 'Huntington disease;Rubinstein Taybi Syndrome', '', '', '', '', '', '', '', '', 'Finally, we will discuss novel therapeutic approaches targeted to CBP/CREB function for treating the cognitive dysfunction of RTS and other neurological disorders.. '), ('8264', 'YY1_IL6', 'Chr9p21, /  / ', 'YY1', 'IL6', '26618242', '13', '', '', '', '', '', '', '', '', '', 'The newly identified TNF-?-NF-?B-ANRIL/YY1-IL6/8 pathway enhances understanding of the etiology of CAD and provides potential therapeutic target for treatment of CAD. '), ('8265', 'PTCH1_HIC1', '17p13.3 / ', 'PTCH1', 'HIC1', '18347096', '13', 'medulloblastoma\r\r', '', '', '', '', '', '', '', '', 'When compared with Ptch1 heterozygous mutants, compound Ptch1/Hic1 heterozygotes display a fourfold increased incidence of medulloblastoma. '), ('8266', 'FLI_EWS', 't(11;22)(q24;q12) / ', 'FLI', 'EWS', '9808135', '12', 'small cell carcinoma;neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'In addition, EWS/FLI-1 chimeric mRNA that originated from the characteristic chromosomal translocation was detected by reverse transcription-polymerase chain reaction.     ///    \"Peripheral primitive neuroectodermal tumor of the ovary confirmed by CD99 immunostaining, karyotypic analysis, and RT-PCR for EWS/FLI-1 chimeric mRNA.. \"'), ('8267', 'RET_CCDC6', '', 'RET', 'CCDC6', '23150706', '12', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'PCR;ISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of the 13 patients, nine patients had KIF5B-RET, three patients had CCDC6-RET, and one patient had a novel NCOA4-RET fusion.     ///    \"Of the 13 patients, nine patients had KIF5B-RET, three patients had CCDC6-RET, and one patient had a novel NCOA4-RET fusion.\"'), ('8268', 'RET_PTC3', '', 'RET', 'PTC3', '17464312', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC1 (two out of seven) and RET/PTC3 (one out of seven), which have been shown in large PTC series to comprise together more than 90% of RET/PTC types, were found in <50% of the cases investigated. '), ('8269', 'STRN_ALK', '', 'STRN', 'ALK', '24613930', '12', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'STRN-ALK leads to constitutive activation of ALK kinase via dimerization mediated by the coiled-coil domain of STRN and to a kinase-dependent, thyroid-stimulating hormone-independent proliferation of thyroid cells.     ///    \"Moreover, expression of STRN-ALK transforms cells in vitro and induces tumor formation in nude mice. \"    ///    The kinase activity of STRN-ALK and the ALK-induced cell growth can be blocked by the ALK inhibitors crizotinib and TAE684.     ///    \"In addition to well-differentiated papillary cancer, STRN-ALK was found with a higher prevalence in poorly differentiated and anaplastic thyroid cancers, and it did not overlap with other known driver mutations in these tumors. \"    ///    Identification of the transforming STRN-ALK fusion as a potential therapeutic target in the aggressive forms of thyroid cancer..     ///    Our data demonstrate that STRN-ALK fusion occurs in a subset of patients with highly aggressive types of thyroid cancer and provide initial evidence suggesting that it may represent a therapeutic target for these patients. '), ('8270', 'RET_PTC3', '', 'RET', 'PTC3', '18393128', '12', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', '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.     ///    No statistical difference was found between RET/PTC1 and RET/PTC3. '), ('8271', 'SND1_BRAF', '', 'SND1', 'BRAF', '25266736', '12', 'acinic cell carcinoma;pancreatic cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The most prevalent fusion, SND1-BRAF, resulted in activation of the MAPK pathway, which was abrogated with MEK inhibition. '), ('8272', 'YWHAE_NUTM2A', '', 'YWHAE', 'NUTM2A', '24186140', '12', 'endometrial stromal sarcoma;gastrointestinal cancer', '', '', '', '', '', '', '', '', 'Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors.    ///    This study examines the expression of KIT and ANO1 in 14 YWHAE-NUTM2A/B tumors by immunohistochemistry.    ///    This study shows that the high-grade round cell component of YWHAE-NUTM2A/B endometrial stromal sarcoma consistently expresses KIT but lacks KIT hotspot mutations.    ///    \"Sanger sequencing analysis (exons 9, 11, 13 and 17) and Ampliseq Cancer Panel mutation screen (Ion Torrent) demonstrated no KIT mutations in three KIT-positive YWHAE-NUTM2A/B tumors. \"    ///    \"KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary. \"    ///     Endometrial stromal sarcomas with the YWHAE-NUTM2A/B genetic fusion characteristically contain high-grade round to epithelioid cell component that is strongly and diffusely cyclin D1-positive and it may or may not show an associated low-grade fibroblastic/myxoid cell component. '), ('8273', 'BCR_ABL1', '', 'BCR', 'ABL1', '22226019', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'BCR-ABL1, 1.6%. '), ('8274', 'EML4_ALK', '', 'EML4', 'ALK', '25740311', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain.    ///    \"Uniquely, EML4-ALK variant 3, which includes the TD and basic region of EML4 but none of the WD40 repeats, was localized to MTs, both when expressed recombinantly and when expressed in a patient-derived NSCLC cell line (H2228).\"    ///    \"We have determined crystal structures of the coiled-coils from EML2 and EML4, which describe the structural basis of both EML self-association and oncogenic EML4-ALK activation. \"    ///    \"Uniquely, EML4-ALK variant 3, which includes the TD and basic region of EML4 but none of the WD40 repeats, was localized to MTs, both when expressed recombinantly and when expressed in a patient-derived NSCLC cell line (H2228). \"    ///    Microtubule association of EML proteins and the EML4-ALK variant 3 oncoprotein require an N-terminal trimerization domain..     ///    \"Furthermore, the structure of EML4 TD may enable the development of protein-protein interaction inhibitors targeting the trimerization interface, providing a possible avenue towards therapeutic intervention in EML4-ALK NSCLC. \"    ///    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. '), ('8275', 'RET_NCOA4', '', 'RET', 'NCOA4', '23150706', '12', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'PCR;ISH', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Of the 13 patients, nine patients had KIF5B-RET, three patients had CCDC6-RET, and one patient had a novel NCOA4-RET fusion. '), ('8276', 'EWS_ERG', 't(7;22)(p22;q12) / ', 'EWS', 'ERG', '7700648', '12', 'neuroectodermal tumor;ewing sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'Identical EWS nucleotide sequences found in the majority of EWS-FLI1 and EWS-ERG chimeric transcripts are fused to a portion of ETV1 encoding an ETS domain with sequence specific DNA-binding activity. '), ('8277', 'BRAF_AKAP9', '', 'BRAF', 'AKAP9', '15630448', '12', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer..     ///    \"The AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas developing after a short latency, whereas BRAF point mutations were absent in this group. \"'), ('8278', 'MLL_KNL1', 't(11;15)(q23;q14) / ', 'MLL', 'KNL1', '12618768', '12', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'The MLL-AF15q14 fusion described previously shares no AF15q14 residues in common with the chimera reported here. '), ('8279', 'RET_KIF5B', '', 'RET', 'KIF5B', '23150706', '12', 'non small cell lung cancer;lung cancer;adenocarc\r\r', 'PCR;ISH', 'Kinase', 'Oncogene', '', '', '', '', '', 'Of the 13 patients, nine patients had KIF5B-RET, three patients had CCDC6-RET, and one patient had a novel NCOA4-RET fusion. '), ('8280', 'YWHAE_NUTM2A', '', 'YWHAE', 'NUTM2A', '25355621', '12', 'endometrial stromal sarcoma;sarcoma\r\r', '', '', '', '', '', '', '', '', 'High-grade ESS is defined by the presence of YWHAE-NUTM2A/B (YWHAE-FAM22A/B) fusions.'), ('8281', 'EML4_ALK', '', 'EML4', 'ALK', '24022905', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'To our knowledge, the present case is the second report of crizotinib-responsive brain metastases due to echinoderm microtubule-associated protein-like 4-ALK (EML4-ALK)-rearranged NSCLC..    ///    \"To our knowledge, the present case is the second report of crizotinib-responsive brain metastases due to echinoderm microtubule-associated protein-like 4-ALK (EML4-ALK)-rearranged NSCLC.. \"'), ('8282', 'RET_PTC3', '', 'RET', 'PTC3', '20840674', '12', 'papillary adenoma;papillary carcinoma;thyroid cancer;thyroid carcinoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In contrast, in thyroid carcinomas with single component histology, RET/PTC1 was detected in 11% of PCs and in none of the UCs, and RET/PTC3 was not found in any of the tumours studied.     ///    \"RET/PTC1 was undetectable in both components from all seven composite UCs, and RET/PTC3 was identified in both components of one composite UC. \"'), ('8283', 'EWSR1_ERG', '', 'EWSR1', 'ERG', '24723486', '12', 'ewing sarcoma;sarcoma\r\r', 'PCR', '', '', '', '', '', 'KB', 'Seq', 'All ES expressed CD99 and FLI1, while ERG positivity was only seen in EWSR1-ERG fusion positive ES.    ///    \"All ES expressed CD99 and FLI1, while ERG positivity was only seen in EWSR1-ERG fusion positive ES. \"'), ('8284', 'CCDC6_RET', '', 'CCDC6', 'RET', '23154560', '12', 'lung cancer;adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In this study, we report identification of CCDC6-RET fusion in the human lung adenocarcinoma cell line LC-2/ad.    ///    \"In this study, we report identification of CCDC6-RET fusion in the human lung adenocarcinoma cell line LC-2/ad. \"    ///    \"Identification of CCDC6-RET fusion in the human lung adenocarcinoma cell line, LC-2/ad.. \"'), ('8285', 'RARA_PML', '', 'RARA', 'PML', '7536493', '12', 'acute promyelocytic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'In one female patient, the abnormal PML-RAR fusion gene was found only in the more mature CD34+/CD38+ cell fraction using a nested PCR approach, whereas the polyclonal CD34+/CD38- fraction was PML-RARA negative.     ///    These findings were confirmed in a third patient with APL in whom the PML-RARA transcripts were absent in the CD34+/CD38- cell fraction.     ///    Highly purified primitive hematopoietic stem cells are PML-RARA negative and generate nonclonal progenitors in acute promyelocytic leukemia.. '), ('8286', 'FAM131B_BRAF', '', 'FAM131B', 'BRAF', '21424530', '12', 'pilocytic astrocytoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'Functional characterization of the novel FAM131B-BRAF fusion demonstrated constitutive MEK phosphorylation potential and transforming activity in vitro.     ///    Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.. '), ('8287', 'EVI1_AML1', 't(3;21) / t(8;21)(q22;q22) / ', 'EVI1', 'AML1', '8171026', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'In addition, we have identified a third chimeric transcript, AML1/EVI1, in one of the therapy-related acute myeloid leukemia patients. '), ('8288', 'P53_MDM2', '', 'P53', 'MDM2', '24823650', '12', '', '', '', 'Oncogene', '', '', '', '', '', 'Human hFap7 also regulates Cajal body assembly and cell cycle progression via the p53-MDM2 pathway. '), ('8289', 'FMN_FAD', '', 'FMN', 'FAD', '23754593', '12', '', '', '', '', '', '', '', '', '', ' Flavocytochrome P450BM-3 is a soluble bacterial reductase composed of two flavin (FAD/FMN) and one HEME domains. '), ('8290', 'CD5_CD10', '', 'CD5', 'CD10', '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. '), ('8291', 'NUP98_HOXA9', '', 'NUP98', 'HOXA9', '20339440', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Comparison to another leukemogenic NUP98 fusion, NUP98-HOXA9, reveals a number of genes deregulated by both oncoproteins, including HOX genes, COX-2, MYCN, ANGPT1, REN, HEY1, SOX4 and others. '), ('8292', 'KIT_SCF', '', 'KIT', 'SCF', '20850173', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'At the site of follicular layer invaginations evident c-kit/SCF immunostaining was observed in the granulosa epithelium and in the theca. '), ('8293', 'SDF1_CXCR4', '', 'SDF1', 'CXCR4', '21518888', '12', 'leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'In addition, the CXCR4/SDF-1 axis was hampered, as evidenced by reduced migration toward an SDF-1 gradient and loss of SDF-1-augmented proliferation in culture. '), ('8294', 'JH2_JH1', '', 'JH2', 'JH1', '23033920', '12', '', '', '', '', '', '', '', '', '', 'The significance of the above mechanism is emphasized by the finding that the activating V617F mutation destabilizes JH1-JH2 association in the proposed asymmetric dimer. '), ('8295', 'ROS1_RET', '', 'ROS1', 'RET', '26469915', '12', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The clinicoradiologic features were compared between ALK versus ROS1/RET fusion-positive tumors to identify the clinicoradiologic similarity between the 2 groups.The fusion-positive tumor prediction model was a combination of younger age, advanced tumor stage, solid tumor on CT, higher values for SUV(max) and tumor mass, lower values for kurtosis and inverse variance on 3-voxel distance than those of fusion-negative tumors (sensitivity and specificity, 0.73 and 0.70, respectively). '), ('8296', 'Integrin_OPN', '', 'Integrin', 'OPN', '18337256', '12', 'prostate cancer\r\r', '', '', '', '', '', '', '', '', 'Thus, we conclude that OPN/integrin alphavbeta3 signaling participates in the process of migration and invasion of PC3 cells through regulating processes essential for the formation and function of invadopodia.. '), ('8297', 'EML4_ALK', '', 'EML4', 'ALK', '23785245', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Crizotinib, the first clinically available ALK tyrosine kinase inhibitor, appeared more effective compared with standard chemotherapy in NSCLC patients harboring EML4-ALK. '), ('8298', 'MHC_DP', '', 'MHC', 'DP', '1827129', '12', '', '', '', '', '', '', '', '', '', 'These data suggest that circulating cytotoxic CD4+/CD8+ T cell clones specific for autologous MHC-DP determinants may be involved in hematopoietic failure in some cases of aplastic anemia..     ///    \"Autocytotoxicity could be blocked by a CD3 MAb, a MAb specific for monomorphic MHC class II determinants, and particularly, by an MHC-DP-specific MAb, suggesting specificity for autologous DP molecules. \"'), ('8299', 'TCHH_AHF', '', 'TCHH', 'AHF', '22261007', '12', '', '', '', '', '', '', '', '', '', 'Identification of the C-terminal tail domain of AHF/trichohyalin as the critical site for modulation of the keratin filamentous meshwork in the keratinocyte..     ///    \" AHF/trichohyalin is a large structural protein abundant in the inner root sheath (IRS) of anagenic hair follicles, which has been thought to mediate the keratin filamentous assembly. \"'), ('8300', 'P450_NADPH', '', 'P450', 'NADPH', '11304134', '12', '', '', '', '', '', '', '', '', '', 'In this work, direct reaction of TCE oxide with either human P450 2E1, P450 2B1, or NADPH-P450 reductase was shown to lead to enzyme inactivation, and no recovery of the activity of either enzyme occurred, consistent with the view of inactivation reactions with Lys groups and not hydroxyls or Cys.     ///    \"Furthermore, Lys adducts were detected in the reaction of TCE oxide with both P450 2E1 and NADPH-P450 reductase, with a larger amount of N(6)-formylLys observed compared to N(6)-dichloroacetylLys in both cases. \"'), ('8301', 'NETO2_DNAJA2', '', 'NETO2', 'DNAJA2', '24094746', '12', '', '', '', '', '', '', '', '', '', 'Subcellular localizations of DNAJA2-NETO2 and MAP3K3-DDX42 differed from their parent genes. '), ('8302', 'MAD3_BUBR1', '', 'MAD3', 'BUBR1', '18675311', '12', '', '', '', '', '', '', '', '', '', 'In different organisms, a mitotic checkpoint complex (MCC) composed of Mad2, Bub3, BubR1/Mad3, and Cdc20 inhibits the anaphase promoting complex (APC/C) to initiate promotion into anaphase. '), ('8303', 'RAC_CDC42', '', 'RAC', 'CDC42', '10360579', '12', 'aldrich syndrome', '', '', '', '', '', '', '', '', 'Some of these, known as CRIB (for Cdc42/Rac interactive-binding) proteins, bind to both Cdc42 and Rac, such as the PAK1-3 serine/threonine kinases, whereas others are specific for Cdc42, such as the ACK tyrosine kinases and the Wiscott-Aldrich-syndrome proteins (WASPs). '), ('8304', 'ERK1_ERK', '', 'ERK1', 'ERK', '10898713', '12', '', '', '', '', '', '', '', '', '', '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. '), ('8305', 'MLL_AF10', '', 'MLL', 'AF10', '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. '), ('8306', 'RET_PTC2', '', 'RET', 'PTC2', '8290261', '12', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Another activated form of the RET oncogene has subsequently been found in a thyroid carcinoma and is now referred to as RET/PTC2. '), ('8307', 'TSC_PKD1', '', 'TSC', 'PKD1', '18818683', '12', 'autosomal dominant polycystic kidney;tuberous sclerosis', '', '', '', '', '', '', '', '', 'Sensitivity of the assay showed that about 40% of PKD1/TSC contiguous gene deletion syndrome families contained mosaic cases. '), ('8308', 'RET_PTC1', '', 'RET', 'PTC1', '20840674', '12', 'papillary adenoma;papillary carcinoma;thyroid cancer;thyroid carcinoma', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In contrast, in thyroid carcinomas with single component histology, RET/PTC1 was detected in 11% of PCs and in none of the UCs, and RET/PTC3 was not found in any of the tumours studied.     ///    \"RET/PTC1 was undetectable in both components from all seven composite UCs, and RET/PTC3 was identified in both components of one composite UC. \"'), ('8309', 'MEK_ERK', '', 'MEK', 'ERK', '20587665', '12', 'thyloid cancer\r\r', '', '', '', '', '', '', '', '', 'Both mutations are able to activate the mitogen-activated protein kinase kinase/extracellular signal-regulated kinase (MEK/ERK) signaling transduction pathway leading to cellular proliferation, differentiation, and apoptosis. '), ('8310', 'CMS_CIN85', '', 'CMS', 'CIN85', '17606992', '12', '', '', '', '', '', '', '', '', '', 'Structure and function analysis of the CMS/CIN85 protein family identifies actin-bundling properties and heterotypic-complex formation..     ///     Members of the CMS/CIN85 protein family participate in clathrin-mediated endocytosis and play a crucial role in maintaining the kidney filtration barrier. '), ('8311', 'ROS1_ALK', '', 'ROS1', 'ALK', '26964870', '12', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Tumors developed progressively in the untreated TG mice of both lines, whereas those receiving oral administration of an ALK/MET/ROS1 inhibitor, crizotinib, and an ALK/ROS1 inhibitor, ASP3026, showed marked reduction in the tumor burden. '), ('8312', 'MP2_CAS', '', 'MP2', 'CAS', '17298037', '12', '', '', '', '', '', '', '', '', '', ' The mechanisms of the two reaction pathways for the photochemical transformations of methyl substituted imidazoles (i.e., 1,4-dimethyl-imidazole and 1,4,5-trimethyl-imidazole) in their first excited state (1pi --> 1pi*) have been determined using the CASSCF (10-electron/8-orbital active space) and MP2-CAS methods with the 6-311(d) basis set. '), ('8313', 'PCL_APS', '', 'PCL', 'APS', '23255492', '12', '', '', '', '', '', '', '', '', '', ' Novel polyurethanes with zwitterionic sulfobetaines, termed PUR-APS, were designed and synthesized by chain-extension of biodegradable poly(?-caprolactone) containing N,N\'-bis (2-hydroxyethyl) methylamine ammonium propane sulfonate (PCL-APS) with hexamethylene diisocyanate (HDI). '), ('8314', 'RAGE_AGE', '', 'RAGE', 'AGE', '15922119', '12', 'diabetic vascular complication', '', '', '', '', '', '', '', '', 'Does nifedipine treatment reduce the development and progression of diabetic vascular complications? If the answer is yes, is this beneficial effect of nifedipine superior than that of other DHPs with equihypotensive properties? Does nifedipine treatment decrease the incidence of melanoma and/or prolong the survival of patients with this devastating disorder? These prospective studies will provide further valuable information whether blockade by nifedipine of the AGE-RAGE signaling could be clinically relevant.. '), ('8315', 'TAL1_SIL', '', 'TAL1', 'SIL', '19631984', '12', 'T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', '', '', 'Other alterations included MLL(+) (n=4), SIL-TAL1(+) (n=3), FLT3 mutation (n=1) and HOX11L2(+) (n=1). '), ('8316', 'PML_IRIS', '', 'PML', 'IRIS', '22710964', '12', 'leukoencephalopathy', '', '', 'Oncogene', '', '', '', '', '', 'Autopsy showed ongoing severe PML-IRIS, with massive cavitary brain lesions containing abundant perivascular and parenchymal CD8-positive T-cell infiltrates.     ///    This report provides an update on PML in natalizumab-treated patients and reviews what is currently known about PML-IRIS in this setting.     ///    Update on PML and PML-IRIS occurring in multiple sclerosis patients treated with natalizumab.. '), ('8317', 'CD8_CD4', '', 'CD8', 'CD4', '18802443', '12', '', '', '', '', '', '', '', '', '', 'Positively selected thymocytes must then differentiate into either CD4(+) helper T cells or CD8(+) cytotoxic T cells, a crucial decision known as CD4/CD8-lineage choice.     ///    \"In this Review, we summarize recent advances in our understanding of the cellular and molecular events involved in lineage-fate decision and discuss them in the context of the major models of CD4/CD8-lineage choice.. \"'), ('8318', 'MYC_BCL2', '', 'MYC', 'BCL2', '26426741', '12', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'The clinicopathological features of MYC/BCL6 DHL were similar to MYC/BCL2 DHL, except that MYC/BCL6 DHL had a GCB immunophenotype less often.     ///    \"MYC/BCL6 DHL is an aggressive B cell lymphoma and patients often have an aggressive clinical course and poor prognosis, similar to patients with MYC/BCL2 DHL.. \"    ///    \"Patients with MYC/BCL6 DHL had a poor overall survival, similar to patients with MYC/BCL2 DHL (P = 0.32). \"    ///    We studied the clinicopathological features and outcome of 13 patients with MYC/BCL6 DHL and compared this group to a group of 83 MYC/BCL2 DHL patients. '), ('8319', 'SDF1_CXCR4', '', 'SDF1', 'CXCR4', '24399074', '12', 'neuroblastoma\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Vandetanib-induced inhibition of neuroblastoma cell migration and invasion is associated with downregulation of the SDF-1/CXCR4 axis and matrix metalloproteinase 14.. '), ('8320', 'CD8_CD4', '', 'CD8', 'CD4', '19614989', '12', 'pagetoid reticulosis', '', '', '', '', '', '', '', '', 'CD4/CD8 double negative pagetoid reticulosis: a case report and literature review..     ///    \"Review of the literature confirms that the immunophenotype of pagetoid reticulosis is variable with decreasing frequency of CD8+ cytotoxic/suppressor T cell, CD4+ helper T cell and least commonly CD4/CD8 double negative phenotypes. \"    ///    \"Although CD4/CD8 double negative phenotype appears to be associated with higher proliferation index, it does not appear to confer prognostic significance.. \"'), ('8321', 'RET_PTC', '', 'RET', 'PTC', '10951397', '12', 'thyroid carcinoma;thyloid cancer;follicular adenoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'This study was undertaken to assess the frequency of RET/PTC-1 expression, any distinctive features of positive tumours to which it might be related, and its prognostic importance. '), ('8322', 'EFNA1_EPHA2', '', 'EFNA1', 'EPHA2', '19525919', '12', '', '', 'Kinase', '', '', '', '', '', '', 'Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex.. '), ('8323', 'PIK3CA_EGFR', '', 'PIK3CA', 'EGFR', '24158231', '12', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', '95% CI, 18.7%-37.4%) were found to harbor known oncogenic mutations, including 10 with EGFR, seven with KRAS, three with PIK3CA, one with BRAF, one with HER2, one each with EGFR/PIK3CA and KRAS/PIK3CA double mutations, and two with EML4-ALK fusions. '), ('8324', 'RET_PTC1', '', 'RET', 'PTC1', '11279350', '12', 'papillary carcinoma\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'RT and nested PCR were performed using primers for RET/PTC1, PTC2 and PTC3, or for RET exons 12 and 13. '), ('8325', 'CCND1_CD10', '', 'CCND1', 'CD10', '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%). '), ('8326', 'CD8_CD4', '', 'CD8', 'CD4', '15811122', '12', 'panniculitis', '', '', '', '', '', '', '', '', 'The cutaneous and pulmonary lymphoid infiltrates showed similar immunohistochemical profiles: CD3(+) CD4(-) CD8(+/-) CD56(+). '), ('8327', 'CCR6_CCL20', '', 'CCR6', 'CCL20', '26811629', '12', 'gastrointestinal cancer', '', '', '', '', 'Receptor', '', '', '', 'Chemokine/chemokine receptor pair CCL20/CCR6 in human colorectal malignancy: An overview..     ///    \"Further, the CCL20/CCR6 system apparently plays a role in the organ-selective liver metastasis of CRC. \"'), ('8328', 'RPS4Y_RPS4X', '', 'RPS4Y', 'RPS4X', '8301645', '12', '', '', '', '', '', '', '', '', '', 'In addition, assessment of ZFX/ZFY and RPS4X/RPS4Y in the context of the Turner gene(s) suggests that ZFX/ZFY rather than RPS4X/RPS4Y could be a candidate gene for the Turner stigmata.. '), ('8329', 'RET_PTC1', '', 'RET', 'PTC1', '14712216', '12', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'conversely a carboxy-terminal truncated H4(D10S170) mutant H4(1-101), corresponding to the portion included in the RET/PTC1 oncoprotein, behaved as dominant negative on the proapoptotic function and nuclear localization of H4(D10S170). '), ('8330', 'NMI_FAME', '', 'NMI', 'FAME', '16478127', '12', '', '', '', '', '', '', '', '', '', 'CH2=C=N+=CH2), has been investigated as a method for localizing double bonds in a series of 16 non-methylene-interrupted fatty acid methyl esters (NMI-FAME) of polyenes with three and more double bonds. '), ('8331', 'EML4_ALK', '', 'EML4', 'ALK', '24158231', '12', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', '95% CI, 18.7%-37.4%) were found to harbor known oncogenic mutations, including 10 with EGFR, seven with KRAS, three with PIK3CA, one with BRAF, one with HER2, one each with EGFR/PIK3CA and KRAS/PIK3CA double mutations, and two with EML4-ALK fusions. '), ('8332', 'VAP1_SSAO', '', 'VAP1', 'SSAO', '21858471', '12', '', '', '', '', '', '', '', '', '', 'ELP 12 was found to be more selective for SSAO/VAP-1.     ///    \"These structural data reveal that the entrance and the first part of the SSAO/VAP-1 channel may be considered as a new target area, or a \"\"secondary binding site\"\", for modulators of human SSAO/VAP-1 activity. \"    ///    \"The aim of this study was to evaluate the effect of some synthetic polyamines as inhibitors of two new potential targets, human semicarbazide-sensitive amine oxidase/vascular adhesion protein-1 (SSAO/VAP-1) and monoamine oxidases B (MAO B), enzymes involved in various multi-factorial diseases such as Alzheimer\'s disease. \"    ///    \"These results indicate ELP 12 and Bis-Bza-Diado as new \"\"skeletons\"\" for the development of novel SSAO/VAP-1 and MAO B inhibitors.. \"    ///    \"Combining kinetic and structural approaches, the binding mode of ELP 12 to SSAO/VAP-1 was investigated. \"'), ('8333', 'CD56_CD5', '', 'CD56', 'CD5', '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. '), ('8334', 'RET_PTC', '', 'RET', 'PTC', '18226854', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Incidentally simultaneous occurrence of RET/PTC, H4-PTEN and BRAF mutation in papillary thyroid carcinoma..     ///    H4-PTEN were detected in 9.6% of PTC and the frequency of the occurrence of BRAF mutation and/or RET/PTC in H4-PTEN positive tumors was extremely high (75%). '), ('8335', 'TGFA_EGFR', '', 'TGFA', 'EGFR', '9440027', '12', '', '', 'Kinase', '', '', '', '', '', '', 'The autocrine loop of TGF-alpha/EGFR and brain tumors.. '), ('8336', 'CD25_CD23', '', 'CD25', 'CD23', '17867302', '12', 'lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'Flowcytometric analysis of peripheral blood lymphocytes identified expanded B-lymphocytes as having the IgG+, CD5- CD10- CD11c+ CD19+ CD20+ CD23- CD25- and CD103- cell surface phenotype. '), ('8337', 'ROS1_CD74', '', 'ROS1', 'CD74', '26964870', '12', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'In this study, to investigate the in vivo oncogenic activities of one of the most frequently detected fusions, CD74-ROS1, as well as another SDC4-ROS1 fusion that has also been reported in several studies, we generated transgenic (TG) mouse strains that express either of the two ROS1-fusion genes specifically in lung alveolar type II cells. '), ('8338', 'LFA1_CD54', '', 'LFA1', 'CD54', '16721356', '12', '', '', '', '', '', '', '', '', '', 'Because of the pivotal role played by CD54-LFA-1 interaction in immune cell interaction, this study focused on the contribution of enhanced expression of CD54 and LFA-1 to the enhanced adhesion of AS Jurkat cells.     ///    The enhanced CD54-LFA-1 interaction also resulted in increased adhesion between AS Jurkat T cells and Raji B cells.     ///    \"These facts, including increased binding of AS cells to ICAM-1-Fc, Mg(2+) activation of the binding of AS cells to ICAM-1-Fc and enhanced aggregation of AS cells, together with the inhibiting effect of a blocking CD11a mAb on the binding to ICAM-1-Fc and aggregation of the cells demonstrate an important contribution of enhanced CD54-LFA-1 interaction to increased adhesion between AS cells. \"'), ('8339', 'CD8_CD4', '', 'CD8', 'CD4', '2974531', '12', 'lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'These cells mainly expressed the CD4-/CD8+ phenotype (CD4/CD8 ratio: 0.1). '), ('8340', 'EML4_ALK', '', 'EML4', 'ALK', '25592111', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Synergistic effects of crizotinib and radiotherapy in experimental EML4-ALK fusion positive lung cancer.. '), ('8341', 'P21_P12', '', 'P21', 'P12', '466847', '12', '', '', '', '', '', '', '', '', '', 'Clinical description of chromosome 9 (p12-p21) deletion syndrome.. '), ('8342', 'CD44_CD25', '', 'CD44', '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). '), ('8343', 'CD18_CD11A', '', 'CD18', 'CD11A', '7479767', '12', 'von Willebrand disease', '', '', '', '', '', '', '', '', 'Crystal structure of the I-domain from the CD11a/CD18 (LFA-1, alpha L beta 2) integrin.. '), ('8344', 'RET_PTC', '', 'RET', 'PTC', '10882153', '12', 'thyroid carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In this case, several factors influence the frequency and the type of RET/PTC, such as exposure to radiation, age and histological variant of the papillary tumor. '), ('8345', 'IL2_IL15', '', 'IL2', 'IL15', '11427729', '12', 'lymphoma\r\r', '', '', '', '', '', '', '', '', 'Therefore, the HMGI-C/T-mediated chronic stimulation of the IL-2/IL-15 pathway could be responsible for the onset of NK-T/NK cell lymphomas in HMGI-C/T TG mice.. '), ('8346', 'CD8_CD4', '', 'CD8', 'CD4', '18644018', '12', 'mycosis fungoides\r\r', '', '', '', '', '', '', '', '', 'and group D (alpha/beta+ CD4- CD8- TIA1-), two patients. '), ('8347', 'P53_ATM', '', 'P53', 'ATM', '12511424', '12', 'leukemia\r\r', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'Furthermore, the introduction of 8921T in U2OS cells, characterized by a normal ATM/p53 signal transduction, caused a significant reduction of in vivo p53-Ser15 phosphorylation, suggesting a dominant-negative effect of the mutant ATM over the wild-type protein. '), ('8348', 'MET_ROS1', '', 'MET', 'ROS1', '25999733', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Crizotinib showed potent antitumor activity and manageable toxicity in mesenchymal-epithelial transition factor (c-Met)/ROS1-positive non-small-cell lung cancer patients, but prospective clinical trials are still needed to confirm its efficacy and safety. '), ('8349', 'BCR_ABL1', '', 'BCR', 'ABL1', '17485517', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'In addition, AID introduced DNA single-strand breaks within the tumor suppressor gene CDKN2B in Ph(+) ALL cells, which was sensitive to BCR-ABL1 kinase inhibition and silencing of AID expression by RNA interference.     ///    Forced expression of BCR-ABL1 in Ph(-) ALL cells and inhibition of the BCR-ABL1 kinase showed that aberrant expression of AID depends on BCR-ABL1 kinase activity.     ///     The Philadelphia chromosome (Ph) encoding the oncogenic BCR-ABL1 kinase defines a subset of acute lymphoblastic leukemia (ALL) with a particularly unfavorable prognosis. '), ('8350', 'CD69_CD25', '', 'CD69', 'CD25', '24185712', '12', '', '', '', '', '', '', '', '', '', 'However, such mutant cells are unable to display activation-dependent TCR clustering, IS formation, expression of CD25/CD69 activation markers, or produce/secrete cytokine, effects also seen in the corresponding APCs. '), ('8351', 'P16_CDK4', '', 'P16', 'CDK4', '7478520', '12', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Using microtiter plate assays to measure both p16-cdk4 binding and cdk4/D1 kinase activity, we show here that the melanoma associated mutants are defective, as are some of the Ala mutants. '), ('8352', 'CD5_CD10', '', 'CD5', 'CD10', '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%). '), ('8353', 'GC_ENOS', '', 'GC', 'ENOS', '21156160', '12', '', '', '', '', '', '', '', '', '', 'These results show that endothelial permeability barrier function depends on constitutive generation of NO and that ascorbate-dependent tightening of this barrier involves maintaining NO through the eNOS/guanylate cyclase pathway.. '), ('8354', 'RAC1_PAK1', '', 'RAC1', 'PAK1', '24445042', '12', 'lung cancer\r\r', '', 'Kinase', '', '', '', '', '', '', 'In summary, these data demonstrated that low-toxic levels of curcumin could efficiently inhibit migration and invasion of lung cancer cells through inhibition of Rac1/PAK1 signaling pathway and MMP-2 and MMP-9 expression, which provided a novel insight into the molecular mechanism of curcumin against lung cancer.     ///    \"Meanwhile, we demonstrated that the suppression of invasiveness correlated with inhibition of Rac1/PAK1 signaling pathways and matrix metalloproteinase (MMP) 2 and 9 protein expression by combining curcumin treatment with the methods of Rac1 gene silence and overexpression in lung cancer cells. \"'), ('8355', 'RET_GDNF', '', 'RET', 'GDNF', '15013219', '12', 'multiple endocrine neoplasia', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Gene ablation studies have revealed that the GDNF-RET receptor system is essential for the development of kidney and peripheral neurons, including sympathetic, parasympathetic and enteric neurons. '), ('8356', 'CD8_CD4', '', 'CD8', 'CD4', '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). '), ('8357', 'P31_MAD2', '', 'P31', 'MAD2', '18022368', '12', '', '', '', '', '', '', '', '', '', 'Here, we report the crystal structure of the Mad2-p31(comet) complex. '), ('8358', 'Lactoferrin_CP', '', 'Lactoferrin', 'CP', '17597152', '12', '', '', '', '', '', '', '', '', '', 'Structural characterization of the ceruloplasmin: lactoferrin complex in solution.. '), ('8359', 'CCNH_CDC2', '', 'CCNH', 'CDC2', '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. '), ('8360', 'WAF1_CIP1', '', 'WAF1', 'CIP1', '8912526', '12', 'thyroid carcinoma;papillary carcinoma;retinoblastoma;follicular adenoma\r\r', 'PCR;RT-PCR', '', '', '', '', '', '', '', 'Evidence of gene deletion of p21 (WAF1/CIP1), a cyclin-dependent protein kinase inhibitor, in thyroid carcinomas.. '), ('8361', 'CALM_AF10', '', 'CALM', 'AF10', '15054041', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Half demonstrate HOX11, HOX11L2, SIL-TAL1, or CALM-AF10 deregulation, with each being associated with a specific, age-independent stage of maturation arrest. '), ('8362', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '25707801', '12', '', '', '', '', '', '', '', '', '', 'Crystal structure of the V(D)J recombinase RAG1-RAG2..     ///    Here we report the crystal structure of the mouse RAG1-RAG2 complex at 3.2?? resolution.     ///    \"The RAG1-RAG2 structure rationalizes more than 60 mutations identified in immunodeficient patients, as well as a large body of genetic and biochemical data. \"    ///    The RAG1-RAG2 protein complex initiates this site-specific recombination by cutting DNA at specific sites flanking the coding segments.     ///    \"The 230-kilodalton RAG1-RAG2 heterotetramer is \'Y-shaped\', with the amino-terminal domains of the two RAG1 chains forming an intertwined stalk. \"    ///    \"Each RAG1-RAG2 heterodimer composes one arm of the \'Y\', with the active site in the middle and RAG2 at its tip. \"'), ('8363', 'CFL1_LIMK', '', 'CFL1', 'LIMK', '25119502', '12', 'breast cancer\r\r', '', '', '', '', '', '', '', '', 'Our results indicate that EBP50 is significantly involved in breast cancer invasion/metastasis via LIMK/cofilin and the PI3K/Akt/mTOR/MMP signaling pathway..     ///    EBP50 inhibits the migration and invasion of human breast cancer cells via LIMK/cofilin and the PI3K/Akt/mTOR/MMP signaling pathway.. '), ('8364', 'RNaseD_helicase', '', 'RNaseD', 'helicase', '21111748', '12', '', '', '', '', '', '', '', '', '', 'Here, a series of C-terminal deletions and point mutations of Sgs1, the only RecQ-like helicase in yeast, show that the Helicase/RNase D C-terminal domain and the Rad51 interaction domain are dispensable for Sgs1\'s role in suppressing genome instability, whereas the zinc-binding domain and the helicase domain are required. '), ('8365', 'RET_PTC', '', 'RET', 'PTC', '22661970', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'In detail, we will summarize the data on the molecular mechanisms involved in RET/PTC formation and in its function as a dominant oncogene, on the activated signal transduction pathways and on the induced gene expression modifications.     ///    Intracellular signal transduction and modification of the tumor microenvironment induced by RET/PTCs in papillary thyroid carcinoma..     ///    \"In this review, we will examine the mechanisms involved in RET/PTC-induced thyroid cell transformation. \"    ///    \"Finally, a short review of the literature on RET/PTC prognostic significance will be presented.. \"    ///    \"Moreover, we will report on the effects of RET/PTCs on the tumor microenvironment. \"'), ('8366', 'CD8_CD4', '', 'CD8', 'CD4', '26728704', '12', '', '', '', '', '', '', '', '', '', 'The absence of STAT3 mutations and the CD8/CD4 declining longitudinal kinetics in the late period supports its benign nature, expressed clinically by the null detrimental impact of these expansions on post-transplant outcome and/or serious infectious events. '), ('8367', 'AAC_A4A', '', 'AAC', 'A4A', '1376349', '12', '', '', '', '', '', '', '', '', '', 'Stimulation of spleen cells with the substituted oligonucleotide, A4a-AAC, induced production of significant amounts of IFN-alpha/beta and small amounts of IFN-gamma. '), ('8368', 'CFHR1_CFH', '', 'CFHR1', 'CFH', '24904082', '12', 'atypical hemolytic uremic syndrome;microangiopathic hemolytic anemia', '', '', '', '', '', '', '', '', 'Five patients carried known CFH/CFHR1 genes, but we found a duplication leading to a novel CFHR1/CFH hybrid gene in a family with two affected subjects.     ///    \"Furthermore, sera from carriers of the hybrid CFHR1/CFH gene induced more C5b-9 deposition on endothelial cells than control serum. \"    ///    Functional analysis of the FHR1 fraction purified from serum of heterozygous carriers of the CFHR1/CFH hybrid gene indicated that the FHR1/FH hybrid protein acts as a competitive antagonist of FH.     ///    A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation.. '), ('8369', 'EGFR_ALK', '', 'EGFR', 'ALK', '11919185', '12', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Comparative analysis of the biochemical pathways implicated in the transduction of mitogenic signals did not show any increased ability of the EGFR/ALK to phosphorylate PLC-gamma and MAPK compared with the EGFR.     ///    \"On the contrary, EGFR/ALK showed to have a consistently greater effect on phosphatidylinositol 3-kinase activity compared with the EGFR, indicating that this enzyme plays a major role in mediating the mitogenic effects of ALK in NIH 3T3 cells.. \"    ///    \"Upon transfection in NIH 3T3 fibroblasts, the EGFR/ALK chimera was correctly synthesized and transported to the cell surface, where it was fully functional in forming high versus low affinity EGF-binding sites and transducing an EGF-dependent signal intracellularly. \"    ///    Overexpression of the EGFR/ALK chimera in NIH 3T3 was sufficient to induce the malignant phenotype.     ///    \"Moreover, the EGFR/ALK chimera was significantly more active in inducing transformation and DNA synthesis than the wild type EGFR when either was expressed at similar levels in NIH 3T3 cells. \"'), ('8370', 'BCL6_CD10', '', 'BCL6', 'CD10', '19575895', '12', 'non Hodgkin lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Immuno-histochemical staining showed CD20-positive (8/8), IgD-positive in 2 of the 4 cases (2/4), CD5-positive in 1 of the 4 cases (1/4), 6 of the 6 cases were bcl-2-positive, cyclin D1-negative and bcl-6/CD10-negative, CD43-negative in 5 of the 6 cases (5/6). '), ('8371', 'C15_C10', '', 'C15', 'C10', '15932303', '12', '', '', '', '', '', '', '', '', '', 'Thus, the C1-C14 and C15-C10 bonds are formed on the opposite faces of the 14,15 double bond of the substrate, i.e., overall anti electrophilic addition. ');
INSERT INTO `ChimerPub_dump` VALUES ('8372', 'CD40_CD154', '', 'CD40', 'CD154', '19023113', '12', 'X linked hyper IgM syndrome\r\r', '', '', '', '', '', '', '', '', 'These results indicate that in the absence of CD40-CD154 interactions, there is a marked reduction in SHM and, specifically, mutations of AICDA-targeted G residues in RGYW motifs along with a decrease in transversions normally related to UNG2 activity.. '), ('8373', 'EML4_ALK', '', 'EML4', 'ALK', '25714698', '12', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'EML4-ALK, NMP-ALK, etc.). '), ('8374', 'TCR_CD3', '', 'TCR', 'CD3', '17294403', '12', '', '', '', '', '', '', '', '', '', 'Here we demonstrate that phosphorylation of the actin bundling protein L-plastin in response to costimulation through TCR/CD3 plus CD2 or CD28, respectively, is important for the activation of human peripheral blood T lymphocytes (PBT). '), ('8375', 'paxillin_P190', '', 'paxillin', 'P190', '10092539', '12', '', '', '', '', '', '', '', '', '', 'Moreover, p190, a member of Rho GTPase activating protein (GAP), and RasGAP were coprecipitated with paxillin in adherent cells and angiotensin II stimulation reduced the formation of paxillin-p190 and paxillin-RasGAP complexes. '), ('8376', 'CNGB1_CNGA1', '', 'CNGB1', 'CNGA1', '15314069', '12', '', '', '', '', '', '', '', '', '', 'Here, we test this mechanism for Ca(2+)/CaM-dependent inhibition of CNGA1/CNGB1 channels by simultaneously monitoring protein interactions with fluorescence spectroscopy and channel function with patch-clamp recording. '), ('8377', 'TCR_CD3', '', 'TCR', 'CD3', '1303091', '12', 'lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'This article reviews what is currently known about the structure and assembly of the TCR/CD3 complex. '), ('8378', 'P22_P21', '', 'P22', 'P21', '16278517', '12', 'ambiguous genitalia;gonadal dysgenesis', '', '', '', '', '', '', '', '', 'In addition, the possible 9p23p-p22 duplication observed in this case evokes the concomitant 9p22-p21 duplication documented in the previous girl with a (Y;9) derivative. '), ('8379', 'CD2_CD19', '', 'CD2', 'CD19', '9594444', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Characterization of leukemic cells in CD2/CD19 double positive acute lymphoblastic leukemia..     ///    We had two cases of ALL whose blasts were CD2/CD19 double positive. '), ('8380', 'ORAI1_CFP', '', 'ORAI1', 'CFP', '18832420', '12', '', '', '', '', '', '', '', '', '', 'Co-expression of Orai1-CFP and Orai1-YFP results in a high degree of FRET in resting cells, indicating that Orai1 exists as a multimer. '), ('8381', 'PTP_GLEPP1', '', 'PTP', 'GLEPP1', '19233845', '12', 'contact hypersensitivity;dermatitis', '', '', '', '', '', '', '', '', 'GLEPP1/protein-tyrosine phosphatase phi inhibitors block chemotaxis in vitro and in vivo and improve murine ulcerative colitis..     ///    \" We describe novel, cell-permeable, and bioavailable salicylic acid derivatives that are potent and selective inhibitors of GLEPP1/protein-tyrosine phosphatase . \"'), ('8382', 'CD8_CD4', '', 'CD8', 'CD4', '19224408', '12', 'carcinoma;pure red cell aplasia;thymus tumor', '', '', '', '', '', '', '', '', 'normal T and B-cell numbers with a normal CD4/CD8 ratio. '), ('8383', 'VCAN_HAPLN1', '', 'VCAN', 'HAPLN1', '25587024', '12', 'adenocarcinoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', '', '', 'Integration of this signature with somatic mutational analyses suggests that NOTCH1 and RUNX1 participate with MYB to activate ECM elements including the VCAN/HAPLN1 complex.     ///    \"In summary, we identified a unique ACC signature with parallel MYB-dependent and independent biomarkers and identified VCAN/HAPLN1 complexes as a potential target. \"'), ('8384', 'U2AF65_SF1', '', 'U2AF65', 'SF1', '16376933', '12', '', '', '', '', '', 'Receptor', '', '', '', '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.     ///    \"However, thermodynamic comparison of SF1 or SF3b155 proteins with minimal peptides demonstrates that formation the SF1/U2AF65 complex is likely to affect regions of SF1 beyond the previously identified, linear interaction site, in a remarkably distinct manner from the local U2AF65 binding mode of SF3b155. \"'), ('8385', 'RET_PTC3', '', 'RET', 'PTC3', '12499271', '12', 'thyroid carcinoma;papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'RET/PTC3-transformed cells-treated ZD6474 lost proliferative autonomy and showed morphological reversion.     ///    \"Finally, it blocked anchorage-independent growth of RET/PTC3-transformed NIH3T3 fibroblasts and the formation of tumors after injection of NIH-RET/PTC3 cells into nude mice. \"    ///    ZD6474 blocked in vivo phosphorylation and signaling of the RET/PTC3 and RET/MEN2B oncoproteins and of an epidermal growth factor (EGF)-activated EGF-receptor/RET chimeric receptor. '), ('8386', 'RET_PTC3', '', 'RET', 'PTC3', '11820615', '12', 'papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We noted a high frequency of RET/PTC3 mutations in a group of Polish children with papillary thyroid carcinoma, regarded as sporadic cancer.. '), ('8387', 'IGLV3-21_IGHV3-21', '', 'IGLV3-21', 'IGHV3-21', '19036101', '12', '', '', '', '', '', '', '', '', '', '(ii) M CLL from the IGHV3-21/IGLV3-21 cluster had TTT similar to UM CLL, and shorter than M CLL expressing IGHV3-21 but not in cluster. '), ('8388', 'RET_PTC2', '', 'RET', 'PTC2', '18393128', '12', 'thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'There was RET/PTC2 positiveness in two patients, RET/PTC2,3 positiveness in one patient, and RET/PTC1,2,3 positiveness in one patient. '), ('8389', 'CED4_APAF1', '', 'CED4', 'APAF1', '18635357', '12', '', '', '', '', '', '', '', '', '', 'Apaf1/CED-4 is essential for apoptosis but has not been shown to function in cell-growth control. '), ('8390', 'CD8_CD4', '', 'CD8', 'CD4', '15660701', '12', 'Sezary syndrome', '', '', '', '', '', '', '', '', 'Autopsy case of CD4/CD8 cutaneous T-cell lymphoma presenting disseminated pagetoid reticulosis with aggressive granulomatous invasion to the lungs and pancreas.. '), ('8391', 'ERBB2_EGFR', '', 'ERBB2', 'EGFR', '24835218', '12', 'adenocarcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Based on these results, a dual EGFR/ERBB2 inhibitor, afatinib, was chosen for treatment. '), ('8392', 'STAT5_JAK2', '', 'STAT5', 'JAK2', '22271575', '12', 'acute lymphoblastic leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'HSP90 inhibitors were 100-1,000-fold more potent against CRLF2-rearranged B-ALL cells, which correlated with JAK2 degradation and more extensive blockade of JAK2/STAT5, MAP kinase, and AKT signaling. '), ('8393', 'C21_C18', '', 'C21', 'C18', '16956198', '12', '', '', '', '', '', '', '', '', '', ' A novel series of analogues of calcitriol (1) is developed featuring a spirocyclic central core resulting from C18/C21-connection and C15/C16-deletion (2a, 2b). '), ('8394', 'CD8_CD4', '', 'CD8', 'CD4', '11149941', '12', '', '', '', '', '', '', '', '', '', ' Pre-T cell receptor (preTCR)-derived signals mediate the transition of thymocytes from the CD4(-) CD8(-) double-negative (DN) to CD4(+) CD8(+) double-positive stage of T lymphocyte development. '), ('8395', 'CD8_CD4', '', 'CD8', 'CD4', '26379148', '12', 'T cell leukemia', '', '', '', '', '', '', '', '', 'Thirty percent (6/20) of T-PLLs were S100 compared with 0/56 other T-cell lymphomas with previously unstudied S100 reactivity (40 CD4, 2 CD8, 11 CD4/CD8, 3 unknown) (P=0.0007). '), ('8396', 'DN1_CD25', '', 'DN1', '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). '), ('8397', 'WNT5A_JNK', '', 'WNT5A', 'JNK', '23844260', '12', '', '', '', '', '', '', '', '', '', 'Taken together, our study suggested that RhoA and JNK signaling have roles in mediating Wnt5a-dependent adhesion and migration in hDPCs, and the Wnt5a/JNK pathway acts both dependently and independently of the RhoA pathway. '), ('8398', 'TCR_CD3', '', 'TCR', 'CD3', '12816987', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, inhibition of Rho kinase substantially attenuated the program of cytokine gene expression that characterizes T cell activation, blocked actomyosin polymerization, and prevented aggregation of the TCR/CD3 complex colocalized with lipid rafts. '), ('8399', 'EML4_ALK', '', 'EML4', 'ALK', '21258415', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'The Hsp90 inhibitor IPI-504 rapidly lowers EML4-ALK levels and induces tumor regression in ALK-driven NSCLC models..     ///    We find EML4-ALK to be more sensitive to Hsp90 inhibition than either HER2 or mutant epidermal growth factor receptor (EGFR) with an inhibitory concentration (IC)(50) for protein degradation in the low nanomolar range.     ///    This degradation leads to a potent inhibition of downstream signaling pathways and to the induction of growth arrest and apoptosis in cells carrying the EML4-ALK fusion.     ///    \"To generate a causative link between the expression of EML4-ALK and sensitivity to IPI-504, we introduced an EML4-ALK cDNA into HEK293 cells and show that the expression of the fusion protein sensitizes cells to IPI-504 both in vitro and in vivo. \"'), ('8400', 'gamma 9_CD4', '', 'gamma 9', '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. '), ('8401', 'RET_PTC', '', 'RET', 'PTC', '24830619', '12', 'thyroid nodule;papillary carcinoma;thyloid cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF or RET-PTC was detected exclusively in malignant lesions but not in follicular carcinomas (P < .001). '), ('8402', 'THP_COP', '', 'THP', 'COP', '22975773', '12', 'T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'This patient achieved partial remission with a treatment regimen of THP-COP excluding prednisolone, but died of pneumonia. '), ('8403', 'VEGFR_PI3K', '', 'VEGFR', 'PI3K', '22970259', '12', '', '', '', '', '', '', '', '', '', 'VEGFR-PI3K was found to be upstream pathway of Rac1, while cofilin acted as a downstream effector of Rac1. '), ('8404', 'CCNE_CDK2', '', 'CCNE', 'CDK2', '8957087', '12', 'melanoma\r\r', '', 'Kinase', '', '', '', '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. \"'), ('8405', 'CD20_CD19', '', 'CD20', 'CD19', '16618718', '12', 'breast cancer\r\r', 'PCR', '', '', '', '', '', '', '', 'To exclude coexisting lymphocytes, each cell line was shown to be EBV negative, with CD19/CD20 and cytoplasmic/surface immunoglobulin also absent by flow cytometry. '), ('8406', 'SAPK_JNK', '', 'SAPK', 'JNK', '9184210', '12', '', '', '', '', '', '', '', '', '', 'Surprisingly, the Grb2 mutants blocked activation of the JNK/SAPK but not MAP kinase activity induced by the Tpr-Met oncoprotein. '), ('8407', 'KCNJ6_KCNJ3', '', 'KCNJ6', 'KCNJ3', '23175530', '12', '', '', '', '', '', '', '', '', '', ' This study assessed how conformational information encoded by ligand binding to ?-opioid receptors (DORs) is transmitted to Kir3.1/Kir3.2 channels.     ///    Conformational dynamics of Kir3.1/Kir3.2 channel activation via ?-opioid receptors.. '), ('8408', 'TCR_CD3', '', 'TCR', 'CD3', '12928366', '12', '', '', '', '', '', '', '', '', '', 'Nevertheless, the specific role of CD28 in the formation of the immunological synapse and cytoskeletal changes that occur upon TCR/CD3 complex engagement is still poorly understood. '), ('8409', 'TRIM24_BRPF1', '', 'TRIM24', 'BRPF1', '26061247', '12', 'leukemia\r\r', '', 'Kinase', '', '', '', '', '', '', 'Structure-Guided Design of IACS-9571, a Selective High-Affinity Dual TRIM24-BRPF1 Bromodomain Inhibitor.. '), ('8410', 'PCL_EMD', '', 'PCL', 'EMD', '24844357', '12', 'leukemia;multiple myeloma\r\r', '', '', '', '', '', '', '', '', 'These abnormalities are associated with an aggressive form of MM, high incidence of PCL/EMD and short OS. '), ('8411', 'ROS1_CD74', '', 'ROS1', 'CD74', '26673800', '12', 'lung cancer', '', 'Kinase', 'Oncogene', '', '', '', '', 'Seq', 'Crizotinib resistance of CD74-ROS1(D2033N) was functionally evaluated using cell-based assays and structural modeling.     ///    \"In biochemical and cell-based assays, the CD74-ROS1(D2033N) mutant demonstrated significantly decreased sensitivity to crizotinib. \"'), ('8412', 'RAC_CDC42', '', 'RAC', 'CDC42', '10330410', '12', '', '', '', '', '', '', '', '', '', ' The p21 (Cdc42/Rac) activated kinase Pak1 regulates cell morphology and polarity in most, if not all, eukaryotic cells. '), ('8413', 'CD38_CD19', '', 'CD38', 'CD19', '20028384', '12', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'CD34(+)CD38(-)CD19(+), CD34(+)38(+)CD19(+), and CD34(-)CD38(+)CD19(+) fractions could self-renew and transfer the leukemia, whereas the CD34(-)CD38(+)CD19(+) fraction did not stably propagate in NOD/SCID mice. '), ('8414', 'CD8_CD4', '', 'CD8', 'CD4', '11745245', '12', 'T cell lymphoma;leukemia;lymphoma\r\r', '', '', '', '', '', '', '', '', '1.36 10(9)/L), and CD4:CD8 ratio (15.86 vs. '), ('8415', 'MAP3K3_DDX42', '', 'MAP3K3', 'DDX42', '24094746', '12', '', '', 'Kinase', '', '', '', '', '', '', 'Subcellular localizations of DNAJA2-NETO2 and MAP3K3-DDX42 differed from their parent genes. '), ('8416', 'SYK_ETV6', '', 'SYK', 'ETV6', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', 'Kinase', 'Oncogene', '', '', '', '', '', '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%). '), ('8417', 'RAC_CDC42', '', 'RAC', 'CDC42', '23705660', '12', '', '', '', '', '', '', '', '', '', 'Partition-defective 6 (Par-6) regulates the Par polarity complex by transmitting a GTPase signal through the Cdc42/Rac interaction binding PSD-95/Dlg/ZO-1 (CRIB-PDZ) module that alters PDZ ligand binding. '), ('8418', 'MYC_BCL2', '', 'MYC', 'BCL2', '25529575', '12', 'B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'Around 5-10% of diffuse large B-cell lymphomas are \'double hit\' using the cytogenetic definition, whilst around 30-40% are MYC/BCL2 protein co-expressing.     ///    Recent studies have expanded the concept to include MYC/BCL2 protein co-expressing lymphomas. '), ('8419', 'MET_ALK', '', 'MET', 'ALK', '26468446', '12', 'anaplastic large cell lymphoma;non small cell lung cancer;colorectal cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'ALK-driven tumors can be treated with Crizotinib, an orally available dual ALK/MET inhibitor, currently approved for advanced ALK-positive NSCLCs. '), ('8420', 'CD18_CD11A', '', 'CD18', 'CD11A', '8805579', '12', '', '', '', '', '', '', '', '', '', 'The role of the divalent cation in the structure of the I domain from the CD11a/CD18 integrin.. '), ('8421', 'CD8_CD4', '', 'CD8', 'CD4', '10552959', '12', '', '', '', '', '', '', '', '', '', 'Such a critical developmental checkpoint, known as beta-selection, results in progression from CD4(-) CD8(-) double negative (DN) to CD4(+) CD8(+) double positive (DP) TCRalphabeta(-) thymocytes. '), ('8422', 'ATR_ATM', '', 'ATR', 'ATM', '17803907', '12', '', '', 'Kinase', '', 'Tumor_suppressor', '', '', '', '', 'The septin-SOCS7-NCK axis intersects with the canonical DNA damage cascade downstream of ATM/ATR and is essential for p53 Ser15 phosphorylation. '), ('8423', 'PDGFRA_FIP1L1', '', 'PDGFRA', 'FIP1L1', '17351342', '12', 'myeloid leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'FIP1L1-PDGFRA in CEL-SM. '), ('8424', 'VCFS_DGS', '', 'VCFS', 'DGS', '20060941', '12', 'bladder exstrophy;DiGeorge syndrome;epispadias', '', '', '', '', '', '', '', '', 'Duplications in this region result in a wide and variable spectrum of clinical presentations that include features of the VCFS/DGS, while some carriers present with a completely normal phenotype. '), ('8425', 'H2B_H2A', '', 'H2B', 'H2A', '20600120', '12', '', '', '', '', '', '', '', '', '', 'Given that destabilizing I(2) and these non-native interactions does not accelerate folding, it is concluded that the native and non-native structures present in the I(2) ensemble enable efficient folding of H2A-H2B..     ///    Mutational studies uncover non-native structure in the dimeric kinetic intermediate of the H2A-H2B heterodimer..     ///    \"The contribution of helix propensity to the stability of the I(2) ensemble was assessed with a set of H2A-H2B mutants containing Ala and Gly replacements at nine sites, focusing mainly on the long, central alpha2 helix. \"    ///    \" The folding pathway of the histone H2A-H2B heterodimer minimally includes an on-pathway, dimeric, burst-phase intermediate, I(2). \"'), ('8426', 'NPHS1_NEPH1', '', 'NPHS1', 'NEPH1', '21781959', '12', '', '', '', '', '', '', '', '', '', 'We further show that the corrugated topology of the wing edges is achieved by cell-type specific expression and localization of four kinds of NEPH1/nephrin family proteins through heterophilic adhesion between wing margin cells and hair cells. '), ('8427', 'TEL_AML1', '', 'TEL', 'AML1', '9482406', '12', 'acute myeloid leukemia;acute lymphoblastic leukemia;chronic myeloid leukemia\r\r', '', '', '', '', '', '', '', '', 'In childhood ALL, the TEL-AML1 fusion and hyperdiploidy are both associated with excellent treatment outcomes and therefore identify patients who may be candidates for less intensive therapy. '), ('8428', 'CD5_CD10', '', 'CD5', 'CD10', '17867302', '12', 'lymphoproliferative disorder\r\r', '', '', '', '', '', '', '', '', 'Flowcytometric analysis of peripheral blood lymphocytes identified expanded B-lymphocytes as having the IgG+, CD5- CD10- CD11c+ CD19+ CD20+ CD23- CD25- and CD103- cell surface phenotype. '), ('8429', 'THP_COP', '', 'THP', 'COP', '12096491', '12', 'acute myeloid leukemia;non Hodgkin lymphoma;leukemia;sarcoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'The patient, was treated with THP-COP therapy, which proved very effective.     ///    \"THP-COP therapy was continued, and complete remission was achieved. \"'), ('8430', 'P2RY8_CRLF2', '', 'P2RY8', 'CRLF2', '25105841', '12', 'down syndrome', '', '', '', '', 'Receptor', '', '', '', 'Here, using full-exome or cancer genes-targeted sequencing of 42 ALL samples from 39 DS patients, we uncover driver mutations in RAS, (KRAS and NRAS) recurring to a similar extent (15/42) as JAK2 (12/42) mutations or P2RY8-CRLF2 fusions (14/42). '), ('8431', 'H2B_H2A', '', 'H2B', 'H2A', '7194149', '12', '', '', '', '', '', '', '', '', '', 'In contrast new H1 is deposited on old DNA and new H2A-H2B, while they may be transiently bound to new DNA, are largely associated with preexisting chromatin.. '), ('8432', 'XPF_ERCC1', '', 'XPF', 'ERCC1', '23811686', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', '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. '), ('8433', 'SDC4_ROS1', '', 'SDC4', 'ROS1', '26964870', '12', 'lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'In this study, to investigate the in vivo oncogenic activities of one of the most frequently detected fusions, CD74-ROS1, as well as another SDC4-ROS1 fusion that has also been reported in several studies, we generated transgenic (TG) mouse strains that express either of the two ROS1-fusion genes specifically in lung alveolar type II cells. '), ('8434', 'CD10_BCL6', '', 'CD10', 'BCL6', '10843287', '12', 'reactive lymphoid hyperplasia', '', '', 'Oncogene', '', '', '', '', '', 'The results also suggest that a CD10/BCL-6 expression pattern may be helpful in identifying main subsets of DLBCL. '), ('8435', 'RET_PTC3', '', 'RET', 'PTC3', '14534528', '12', '', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'At 3 h after induction of RET/PTC1 or RET/PTC3 expression, there was evidence of PKCepsilon activation.     ///    \"The expression of RET/PTC3(Y541F), which does not interact with PLCgamma, but signals normally through other RET effectors, had no effect on PKCepsilon distribution at any of the time points examined. \"'), ('8436', 'P14_SF3B155', '', 'P14', 'SF3B155', '18076038', '12', '', '', '', '', '', '', '', '', '', 'Furthermore, to dissect the interactions between p14 and the branch site RNA, we performed chemical-shift-perturbation experiments, not only for the main-chain but also for the side-chain resonances, for several p14-SF3b155 complex constructs upon binding to RNA. '), ('8437', 'IL6_RET', '', 'IL6', 'RET', '24467886', '12', 'breast cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Targeting RET-interleukin-6 crosstalk to impair metastatic dissemination in breast cancer.. '), ('8438', 'NRAS_KRAS', '', 'NRAS', 'KRAS', '25691052', '12', 'lung cancer\r\r', '', '', 'Oncogene', '', '', '', '', '', 'We found that activation of the RAS pathway in the HCC78 cell model, due to either KRAS/NRAS mutations or to KRAS amplification, rendered the cells resistant to ROS1 inhibition. '), ('8439', 'TPR_ALK', '', 'TPR', '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. '), ('8440', 'BCR_ABL1', '', 'BCR', 'ABL1', '20413659', '12', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Surprisingly, at CML diagnosis, 15 of 18 patients (83%) had a sizeable clonal, BCR-ABL1 negative lymphocyte population, which was uncommon in healthy persons (1 of 12. '), ('8441', 'RET_PTC3', '', 'RET', 'PTC3', '10027006', '12', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Finally, in order to investigate whether tumors induced by RET/PTC3 are more aggressive than those tumors induced by RET/PTC1, we also generated thyroid-targeted RET/PTC3 transgenic mice.. '), ('8442', 'MSH2_MLH1', '', 'MSH2', 'MLH1', '17003395', '12', 'colorectal cancer\r\r', '', '', '', '', '', '', '', '', 'Deleterious mutations in MLH1/MSH2 genes.     ///    Personal and family history were obtained for 1914 unrelated probands who submitted blood samples starting in the year 2000 for full gene sequencing of MLH1/MSH2.     ///    \"The PREMM(1,2) model provides clinicians with an objective, easy-to-use tool to estimate the likelihood of finding mutations in the MLH1/MSH2 genes and may guide the strategy for molecular evaluation.. \"    ///    To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients. '), ('8443', 'ZFY_ZFX', '', 'ZFY', 'ZFX', '8301645', '12', '', '', '', '', '', '', '', '', '', 'In addition, assessment of ZFX/ZFY and RPS4X/RPS4Y in the context of the Turner gene(s) suggests that ZFX/ZFY rather than RPS4X/RPS4Y could be a candidate gene for the Turner stigmata.. '), ('8444', 'RET_PTC3', '', 'RET', 'PTC3', '26601537', '12', 'papillary adenoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Based on this database a pooled analysis of data on the rates of RET/PTC1, RET/PTC3 and RET/PTC in total was conducted.     ///    \"For rates of RET/PTC1, RET/PTC3 and RET/PTC in total with respect to formed carcinoma striations the following values (pooling, in %) were obtained: sporadic, total--13.2. \"'), ('8445', 'EML4_ALK', '', 'EML4', 'ALK', '24419423', '12', 'non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Coexpression of equal amounts of EML4-ALK T1312fs*0 and EML4-ALK did not result in resistance to crizotinib, whereas coexpression of EML4-ALK L1196M with EML4-ALK resulted in resistance to inhibition of ALK by crizotinib.     ///    We analyzed 270 cases of NSCLC for ALK kinase domain splicing aberrations and in addition generated constructs with full-length echinoderm microtubule-associated protein-like 4 (EML4)-ALK (E13;A20) and a splicing isoform.     ///    \"Unlike EML4-ALK and EML4-ALK p.L1196M, EML4-ALK T1312fs*0 did not autophosphorylate ALK or other phosphotyrosine sites. \"    ///    ALK splicing isoforms were observed with full-length EML4-ALK in crizotinib-naive and treated NSCLCs. '), ('8446', 'RANKL_OPG', '', 'RANKL', 'OPG', '26163894', '12', '', '', '', '', '', '', '', '', '', 'The ratio of RANKL/OPG was reduced, suggesting that orbital shear stress has the potential to inhibit osteoclastogenesis and osteoclast activity. '), ('8447', 'UCN_COI', '', 'UCN', 'COI', '8572257', '12', '', '', '', '', '', '', '', '', '', 'Several candidate mutations were identified, one of them being the nucleotide 7445 A-->G mutation in the mitochondrial tRNAser(UCN)/COI gene.     ///    \"A different sequence change, in the mitochondrial tRNA(Ser)(UCN)/COI gene, has been proposed as a candidate mutation in a Scottish nonsyndromic deafness pedigree. \"'), ('8448', 'EWSR1_ATF1', '', 'EWSR1', 'ATF1', '23821218', '12', 'clear cell adenocarcinoma', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'recently identified a consistent EWSR1-ATF1 fusion in HCCC. '), ('8449', 'RET_PTC', '', 'RET', 'PTC', '21798995', '12', 'anaplastic thyroid carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'BRAF-associated PTC differ profoundly from RET/PTC or RAS-associated cancers. '), ('8450', 'MUS81_EME1', '', 'MUS81', 'EME1', '26633632', '12', '', '', '', '', '', '', '', '', '', 'The MUS81-EME1 structure-specific endonuclease promotes the appearance of chromosome gaps or breaks at CFSs following replicative stress. '), ('8451', 'CD30_CD15', '', 'CD30', 'CD15', '9707610', '12', 'Hodgkin disease', '', '', '', '', '', '', '', '', 'No CD30/CD15 double-positive cells could be enriched from a lymph node affected by the lymphocyte predominant subtype of HD, activated lymph nodes or peripheral blood of healthy donors. '), ('8452', 'TEL_AML1', '', 'TEL', 'AML1', '18923441', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Most remarkably, miR-708 was 250- up to 6500-fold higher expressed in 57 TEL-AML1, BCR-ABL, E2A-PBX1, hyperdiploid and B-other cases than in 20 MLL-rearranged and 15 T-ALL cases (0.0001<P<0.01), whereas the expression of miR-196b was 500-fold higher in MLL-rearranged and 800-fold higher in 5 of 15 T-ALL cases as compared with the expression level in the remaining precursor B-ALL cases (P<0.001). '), ('8453', 'CXCR4_CXCL12', '', 'CXCR4', 'CXCL12', '25265345', '12', 'chronic myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', 'Oncogene', '', 'Receptor', '', '', '', 'Based on C-Abl physiological functions in conjunction with the most important proteins of which functions directly depend on its activity we tried to outline the research directions that might explain disruptions of the processes at chronic myeloleukosis such as cell migration due to CXCL12/CXCR4 axis activation, reparation, apoptosis, control for mitochondria state, and to propose new perspective therapeutic approaches based on all this knowledge. '), ('8454', 'NFIB_MYB', '', 'NFIB', 'MYB', '25587024', '12', 'adenocarcinoma;mucoepidermoid carcinoma\r\r', '', '', '', '', '', '', 'KB', '', 'We observed that forced MYB-NFIB expression in human salivary gland cells alters cell morphology and cell adhesion in vitro and depletion of VCAN blocked tumor cell growth of a short-term ACC tumor culture. '), ('8455', 'MSTN_FST', '', 'MSTN', 'FST', '19644449', '12', '', '', '', '', '', '', '', '', '', 'The structure of myostatin:follistatin 288: insights into receptor utilization and heparin binding.. '), ('8456', 'ROS_RNS', '', 'ROS', 'RNS', '22139482', '12', 'cerebral ischemia', '', '', '', '', '', '', '', '', 'The findings are consistent with ROS/RNS participation in tissue injury and the reduction of cerebromicrovascular blood flow (CBF) during postischemic recirculation.     ///    \"The observed activation/deactivation of H?O?-induced \"\"stress\"\" kinase is in agreement with the reported capacity of ROS/RNS to stimulate the oxidative signal transduction pathway. \"'), ('8457', 'PTH_CGRP', '', 'PTH', 'CGRP', '2486208', '12', 'Nervous System Diseases', '', '', '', '', '', '', '', '', 'NO association of IHWBS with polymorphism of the calcitonin-CGRP/parathormone locus was found. '), ('8458', 'TEL_AML1', 't(12;21)(p13;q22) / ', 'TEL', 'AML1', '9823952', '12', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'It results in a TEL-AML1 rearrangement and is associated with a good prognosis.     ///    \"Because many chromosomal alterations in leukemia are associated with distinct cell surface phenotypes, we investigated whether there was an association seen between surface marker expression and the TEL-AML1 rearrangement. \"    ///    \"Three of eight cases found to be rearranged by Southern hybridization but lacking the characteristic phenotype failed to show evidence of the TEL-AML1 rearrangement by polymerase chain reaction, suggesting that at least some of the discordant cases may involve partner genes other than AML1 in the TEL rearrangement. \"    ///    Surface antigen phenotype can predict TEL-AML1 rearrangement in childhood B-precursor ALL: a Pediatric Oncology Group study.. '), ('8459', 'CD8_CD4', '', 'CD8', 'CD4', '1329501', '12', '', '', '', '', '', '', '', '', '', 'The phenotype was CD3+ CD4- CD8-, TCR alpha/beta-, TCR gamma/delta+, delta TCS1-, and CD16+, and these cells exhibited spontaneous natural killer (NK) activity. '), ('8460', 'MYCN_DDX1', '', 'MYCN', 'DDX1', '8834178', '12', 'neuroblastoma;retinoblastoma\r\r', '', '', 'Oncogene', '', '', '', '', '', 'Two neuroblastoma cell lines with coamplification of DDX1/MYCN showed a similar topographic relationship of the two genes. '), ('8461', 'TRNQ_TRNM', '', 'TRNQ', 'TRNM', '24865903', '12', '', '', '', '', '', '', '', '', '', 'Rearrangement of trnQ-trnM in the mitochondrial genome of Allantus luctifer (Smith) (Hymenoptera: Tenthredinidae).. '), ('8462', 'CD2_CD10', '', 'CD2', 'CD10', '23928529', '12', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Flow cytometry showed CD19(+) CD20(+) FMC7(+) CD22(+) CD10(-) CD2(-) CD3(-) CD7(-) in 18 cases. '), ('8463', 'EML1_ABL1', '', 'EML1', 'ABL1', '21435002', '12', 'acute lymphoblastic leukemia;chronic myeloid leukemia;myeloid leukemia;lymphoblastic leukemia;leukemia\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', '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. '), ('8464', 'MAP_ERK', '', 'MAP', 'ERK', '11672535', '12', '', '', '', '', '', '', '', '', '', 'In this report, we identify the ERK/MAP kinase pathway as a key regulatory component of this response.     ///    Pre-B cell receptor signaling mediates selective response to IL-7 at the pro-B to pre-B cell transition via an ERK/MAP kinase-dependent pathway.. '), ('8465', 'MLL_ENL', '', 'MLL', 'ENL', '24736461', '12', 'acute lymphoid leukemia', '', '', '', '', '', '', '', '', 'Decrease of MLL-AF4 and MLL-ENL fusion mRNA expression by siRNAs resulted in downregulation of CDK6, affirming a direct relationship between the presence of the MLL fusion and CDK6 expression. '), ('8466', 'TEL_AML1', '', 'TEL', '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. '), ('8467', 'WASP_CDC42', '', 'WASP', 'CDC42', '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. '), ('8468', 'P190_P120', '', 'P190', 'P120', '9819392', '12', '', '', '', '', '', '', '', '', '', 'These studies describe a specific mechanism by which c-Src can regulate p190-p120 association and also document a significant role for p-Tyr-independent means of p190-p120 binding.. '), ('8469', 'BP5_BP1', '', 'BP5', 'BP1', '24239951', '12', '', '', '', '', '', '', '', '', '', ' 15q11-q13 region is an area of well-known susceptibility to genomic rearrangements, in which several breakpoints have been identified (BP1-BP5). '), ('8470', 'RAGE_AGE', '', 'RAGE', 'AGE', '17979674', '12', 'diabetic vascular complication', '', '', '', '', '', '', '', '', 'In the former part of this paper, we review the role of the AGE-RAGE system in the pathogenesis of diabetic vascular complications. '), ('8471', 'C11_C10', '', 'C11', 'C10', '11504635', '12', '', '', '', '', '', '', '', '', '', ' 5alpha, 7beta, 9alpha, 10beta, 13alpha-Pentahydroxy-4(20),11(12)-taxadiene derivative 1 was converted to two unprecedented 1(15-->11)abeo-taxanes and a taxane derivative with a C10-C11 double bond by Absidia coerula ATCC 10738a. '), ('8472', 'INV_DUP', '', 'INV', 'DUP', '23649991', '12', '', '', '', '', '', '', '', '', '', 'Taking into consideration (1) the presence of a predicted PRDM9 binding site in the near vicinity of the junction involving two inverted L1 elements and (2) the inherent properties of X-Y chromosome recombination during male meiosis, we proposed an alternative two-step model for the generation of this X-linked DMD DUP-TRP/INV-DUP event. '), ('8473', 'BCR_ABL1', '', 'BCR', 'ABL1', '19474126', '12', 'leukemia', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Treatment-specific sensitivity assays are being developed for targeted drugs such as farnesyl transferase inhibitors in AML or imatinib in BCR-ABL1 positive acute lymphoblastic leukaemia (ALL). '), ('8474', 'PCSK9_LDLR', '', 'PCSK9', 'LDLR', '22081141', '12', '', '', '', '', '', '', '', '', '', 'Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.. '), ('8475', 'TIMP_MMP9', '', 'TIMP', 'MMP9', '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).     ///    \"To determine whether the enhanced fluorescence quenching was unique to the activated proMMP-2/TIMP-2 complex, similar experiments were performed using MMP-1, MMP-3, and MMP-9/TIMP-1 complex. \"'), ('8476', 'SMAD4_ALK5', '', 'SMAD4', 'ALK5', '11408925', '12', '', '', '', '', 'Tumor_suppressor', '', 'Transcription_Factor', '', '', 'These results suggest that the ALK5-SMAD4 part of the TGFB signalling pathway is a major target for inactivation in pancreatic carcinomas, that the expression of TGFBR2, TGFBR3, and receptors involved in TGFB activation are maintained, and that alterations of components of the TGFB signalling pathway may be accompanied by a positive effect of TGFB on cell growth.. '), ('8477', 'CD8_CD4', '', 'CD8', 'CD4', '16918697', '12', '', '', '', '', '', '', '', '', '', 'MP inhibitors significantly reduced the numbers of CD4/CD8 double-positive (DP) and mature single-positive thymocytes generated, correlated with a reduced number of cell cycles between the double-negative (DN)3 and DP stages. '), ('8478', 'NUP98_NSD1', '', 'NUP98', 'NSD1', '24927133', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', 'Transcription_Factor', 'KB', 'Seq', 'Therefore, inhibition of the methyltransferase activity of NUP98-NSD1 may be considered a viable therapeutic strategy.     ///    The NUP98-NSD1 fusion protein occurs in a highly aggressive subtype of acute myeloid leukemia after rearrangement of the genes NUP98 and NSD1. '), ('8479', 'TMPRSS2_ERG', '', 'TMPRSS2', 'ERG', '19861517', '12', 'prostate cancer\r\r', '', '', '', '', '', '', 'KB', 'Seq', 'Additional findings, regardless of TMPRSS2-ERG status, were the overrepresentation of a rare BRCA2 variant (V2728I: P = 0.03.     ///    \"Thirteen nonsynonymous variants, 5 of which had a minor allele frequency of <0.05, were genotyped in 210 familial cases, 47 of which with a known TMPRSS2-ERG status, 329 sporadic cases, and 512 controls. \"'), ('8480', 'paxillin_GIT2', '', 'paxillin', 'GIT2', '12482769', '12', '', '', 'Kinase', '', '', '', '', '', '', 'Furthermore, S1P induced a transient association of GIT1 with paxillin and redistribution of the GIT2-paxillin complex to the cell cortical area without affecting GIT2-paxillin association. '), ('8481', 'ABCG2_ABCB1', '', 'ABCG2', 'ABCB1', '24037730', '12', 'non small cell lung cancer;lung cancer\r\r', '', '', '', '', '', '', '', '', 'We used knockout mice to study the roles of P-glycoprotein (ABCB1) and breast cancer resistance protein (ABCG2) in plasma pharmacokinetics and brain accumulation of oral crizotinib, and the feasibility of improving crizotinib kinetics using coadministration of the dual ABCB1/ABCG2 inhibitor elacridar. '), ('8482', 'RUNX1_ETV6', '', 'RUNX1', 'ETV6', '19414342', '12', '', '', '', 'Oncogene', '', '', 'Transcription_Factor', 'KB', '', 'Most of the translocations involving RUNX1 lead to the formation of a fusion transcript made of the 5\' region of RUNX1, including the RHD, fused to the 3\' region of a partner gene, with the exception of RUNX1-ETV6 in which the 3\' sequences of RUNX1, including the RHD, are fused to the 5\' region of ETV6, including its promotor. '), ('8483', 'P23_P14', '', 'P23', 'P14', '2821400', '12', 'small cell lung cancer;lung cancer;retinoblastoma\r\r', '', '', '', '', '', '', '', '', 'A cytogenetic deletion in chromosome 3 (p14-p23) was reported in small-cell lung cancer (SCLC) by Whang-Peng et al. '), ('8484', 'VCFS_DGS', '', 'VCFS', 'DGS', '16708226', '12', 'DiGeorge syndrome\r\r', '', '', '', '', '', '', '', '', 'As the clinical features of patients suffering from a duplication of the VCFS/DGS region have proven to be extremely variable, it is impossible to postulate as to the contribution of the 22q12.1 deletion to the phenotype of the patient. '), ('8485', 'ERK2_ERK1', '', 'ERK2', 'ERK1', '12531429', '12', '', '', '', '', '', '', '', '', '', 'Activation of Erk1/Erk2 MAP kinases that was essential to the migration had a key role in enhancing the adherence of cells to the extracellular matrix via the increased expression of integrins alpha2, alpha6 and beta1. '), ('8486', 'BUBR1_BUB3', '', 'BUBR1', 'BUB3', '18675311', '12', '', '', '', '', '', '', '', '', '', 'In particular, in this system, fast and stable metaphase to anaphase transition can only be triggered when the kinetochore controls the Bub3:BubR1-related reactions. '), ('8487', 'CD44_CD25', '', 'CD44', 'CD25', '12121668', '12', '', '', '', '', '', '', '', '', '', 'We have recently reported that tissue-specific inactivation of Notch1 in immature (CD44(-) CD25(+)) thymocytes does not affect subsequent T cell development. '), ('8488', 'TRNL_TRNF', '', 'TRNL', 'TRNF', '16495316', '12', '', '', '', '', '', '', '', '', '', 'Parsimony and Bayesian analyses of the combined sequences of one plastid (trnL-trnF) and two nuclear (ITS region and ETS) molecular markers were carried out. '), ('8489', 'SPINK1_EGFR', '', 'SPINK1', 'EGFR', '24619958', '12', 'prostate cancer\r\r', 'PCR;ISH', 'Kinase', '', '', '', '', '', '', 'Connective tissue growth factor (CTGF) might be an important down-stream molecule of SPINK1-EGFR axis. '), ('8490', 'TCR_CD3', '', 'TCR', 'CD3', '7504052', '12', '', '', '', '', '', '', '', '', '', 'The recent demonstration of an immature TCR-beta-CD3 complex on early thymocytes lead to the alternative hypothesis that signal transduction through an immature TCR-CD3 complex may induce maturation to the DP stage.     ///    \"At day 19 of gestation, extremely low concentrations of TCR-beta chain and CD3 epsilon were detectable on the cell surface of nearly all thymocytes previously thought to be TCR-CD3 negative. \"'), ('8491', 'CD43_ANXA1', '', 'CD43', '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%). '), ('8492', 'RAC_CDC42', '', 'RAC', 'CDC42', '10360578', '12', 'Wiskott Aldrich syndrome', '', '', '', '', '', '', '', '', 'Cdc42 and Rac transmit many signals through GTP-dependent binding to effector proteins containing a Cdc42/Rac-interactive-binding (CRIB) motif. '), ('8493', 'SUZ12_JAZF1', '', 'SUZ12', 'JAZF1', '24186140', '12', 'endometrial stromal sarcoma;gastrointestinal cancer', '', '', '', '', '', '', 'KB', '', 'They are clinically more aggressive than endometrial stromal sarcomas with the JAZF1-SUZ12 genetic fusion and frequently demonstrate extrauterine extension at initial clinical presentation. '), ('8494', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '23646898', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'Age, leukocyte counts, BAALC, and MN1 gene expressions as well as high copy numbers of RUNX1-RUNXT1 or CBFB-MYH11 after induction chemotherapy are useful tools to predict the outcome and should be considered for risk-adapted therapy..     ///    CBFB-MYH11 n?=?76) were prospectively enrolled into two consecutive CETLAM protocols at 19 Spanish institutions.     ///    \"In multivariate analyses, leukocyte count above 20????10(9) /L, BAALC over-expression, and high copy numbers of RUNX1-RUNXT1 or CBFB-MYH11 after induction chemotherapy (CT) led to increased relapse rate. \"'), ('8495', 'HLA-DR_CD22', '', 'HLA-DR', 'CD22', '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. '), ('8496', 'E1B_BCL2', '', 'E1B', 'BCL2', '14720367', '12', 'lung cancer\r\r', 'PCR;RT-PCR', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', ' Bcl-2/E1B 19kDa interacting protein3-like (BNIP3L) gene is a tumor suppressor gene cloned from a human fetal liver cDNA library, which is located at 8p21, one of the high frequent regions of loss of heterozygosity (LOH) in lung carcinoma. '), ('8497', 'NPM_ALK', '', 'NPM', 'ALK', '15928040', '12', 'anaplastic large cell lymphoma;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'Here we show that alphaDGK is constitutively activated in the NPM/ALK-positive ALCL-derived cell line Karpas 299 and in NPM/ALK-infected 32D hematopoietic cells. '), ('8498', 'LKB1_AMPK', '', 'LKB1', 'AMPK', '22848421', '12', '', '', '', '', '', '', '', '', '', 'PKC can activate LKB1/AMPK, leading to phosphorylation and activation of Syk, and subsequent activation of Src and FAK. '), ('8499', 'P53_P21', '', 'P53', 'P21', '11913954', '12', 'sarcoma\r\r', '', '', '', '', '', '', '', '', 'We suggest that maintenance of diploid karyotype in this line is controlled via the p53/p21 pathway. '), ('8500', 'CD8_CD4', '', 'CD8', 'CD4', '11901754', '12', '', '', '', '', '', '', '', '', '', 'The cellular and molecular mechanism of CD4/CD8 lineage commitment.. '), ('8501', 'TRX_MLL', '', 'TRX', 'MLL', '11891048', '12', '', '', '', '', '', '', '', '', '', ' We characterized MLL3, a new human member of the TRX/MLL gene family.     ///    \"MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia.. \"'), ('8502', 'CD22_CD20', '', 'CD22', 'CD20', '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. '), ('8503', 'CD20_CD19', '', 'CD20', 'CD19', '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. '), ('8504', 'BRAF_AKAP9', '', 'BRAF', 'AKAP9', '16299399', '12', 'papillary carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Recently, another mechanism of BRAF activation has been identified, which involves chromosome 7q inversion that results in the AKAP9-BRAF fusion. '), ('8505', 'CFHR1_CFH', '', 'CFHR1', 'CFH', '23880784', '12', 'end stage renal disease', '', '', '', '', '', '', '', '', 'Here, we report the finding of a novel CFHR1/CFH hybrid gene created by a de novo NAHR event in a 14-year-old girl with aHUS.     ///    A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.. '), ('8506', 'RAGE_AGE', '', 'RAGE', 'AGE', '16442744', '12', 'alzheimer disease', '', '', '', '', '', '', '', '', 'This is underscored by the demonstration of particular interactions between AGE/RAGE and amyloid-beta (Abeta) that favour the aggregation and deposition of Abeta and, perhaps, the formation of Abeta itself. '), ('8507', 'LYL1_LMO2', '', 'LYL1', 'LMO2', '24385720', '12', 'T ALL\r\r', 'PCR', '', '', '', '', 'Transcription_Factor', '', '', 'Expression of LYL1 alone and LMO2-LYL1 co-expression were associated with mediastinalinvolvement. '), ('8508', 'CDK2_CCNA', '', 'CDK2', 'CCNA', '8684460', '12', '', '', 'Kinase', '', '', '', 'Transcription_Factor', '', '', ' The crystal structure of the human p27Kip1 kinase inhibitory domain bound to the phosphorylated cyclin A-cyclin-dependent kinase 2 (Cdk2) complex has been determined at 2.3 angstrom. '), ('8509', 'FN1_ALK', '', 'FN1', 'ALK', '25682942', '12', 'bladder cancer', '', 'Kinase', 'Oncogene', '', '', '', 'KB', '', 'This novel fusion, FN1-ALK, resulted in ALK overexpression in the IMT. '), ('8510', 'RAD50_MRE11', '', 'RAD50', 'MRE11', '20921278', '12', 'Nijmegen breakage syndrome\r\r', '', '', '', '', '', '', '', '', 'Chromatin immunoprecipitation (ChIP) analysis of the TCR loci reveals that Nbs1 depletion compromises the loading of Mre11/Rad50 to V(D)J-generated DNA double-strand breaks (DSBs) and thereby affects resection of DNA termini and chromatin conformation of the postcleavage complex. '), ('8511', 'MEK_ERK', '', 'MEK', 'ERK', '26190820', '12', '', '', '', '', '', '', '', '', '', 'Either overexpression of LCN2 or treatment with recombinant human LCN2 protein enhanced the activation of MEK/ERK pathway, which in turn increases endogenous LCN2 to increase MMP-9 activity. '), ('8512', 'NPM_ALK', '', 'NPM', 'ALK', '26018086', '12', 'anaplastic large cell lymphoma;non small cell lung cancer;lung cancer;lymphoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'We confirmed these findings derived from human ALCL cells in murine pro-B cells that were transformed to cytokine independence by ectopic expression of an activated NPM-ALK fusion oncoprotein. '), ('8513', 'RAGE_AGE', '', 'RAGE', 'AGE', '25141979', '12', 'familial amyloid polyneuropathy;lateral sclerosis;prion disease', '', '', '', '', '', '', '', '', 'Modulation of the AGE-RAGE axis is now considered promising in the prevention of neurodegenerative diseases. '), ('8514', 'TRP_DUP', '', 'TRP', 'DUP', '23649991', '12', '', '', '', '', '', '', '', '', '', 'Taking into consideration (1) the presence of a predicted PRDM9 binding site in the near vicinity of the junction involving two inverted L1 elements and (2) the inherent properties of X-Y chromosome recombination during male meiosis, we proposed an alternative two-step model for the generation of this X-linked DMD DUP-TRP/INV-DUP event. '), ('8515', 'T12_HSF4', 't(2;4) / t(2;14) / t(14;15) / ', 'T12', 'HSF4', '2176127', '12', '', '', '', '', '', '', '', '', '', 'HSF4-T12 exhibited many random chromosomal changes.     ///    \"A pool of 10 G418-resistant colonies, HSF4-T12, showed a progressive increase in the expression of a number of in vitro transformation markers with passage in culture and became immortalized. \"'), ('8516', 'CD3_CD2', '', 'CD3', 'CD2', '23928529', '12', 'B cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', 'Flow cytometry showed CD19(+) CD20(+) FMC7(+) CD22(+) CD10(-) CD2(-) CD3(-) CD7(-) in 18 cases. '), ('8517', 'NPM_CD4', '', 'NPM', 'CD4', '26753883', '12', 'anaplastic large cell lymphoma;T cell lymphoma;lymphoma\r\r', '', '', '', '', '', '', '', '', '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. '), ('8518', 'VEGFR_PDGFR', '', 'VEGFR', 'PDGFR', '23461584', '12', 'thyroid carcinoma;adenocarcinoma\r\r', '', '', '', '', '', '', '', '', 'In particular, VEGFR/PDGFR inhibitors, widely explored as antiangiogenics, have been intensively studied in thyroid carcinoma patients. '), ('8519', 'PEG_GRF', '', 'PEG', 'GRF', '12643708', '12', '', '', '', '', '', '', '', '', '', ' Two novel mono-PEGylated derivatives of hGRF(1-29)-NH(2) [human growth hormone-releasing factor, fragment 1-29] have been synthesized by regio-specific conjugation of Lys(12) or Lys(21) to a monomethoxy-PEG(5000) chain (compounds Lys(12)PEG-GRF and Lys(21)PEG-GRF).     ///    \"Secondary structure shifts, hydrogen/deuterium exchange kinetics, temperature coefficients of amide protons, and NOE-based molecular models point out that hGRF(1-29)-NH(2), Lys(21)PEG-GRF and Lys(12)PEG-GRF share a remarkably similar pattern of secondary structure. \"    ///    The Lys(12)PEG-GRF regioisomer was found to be slightly less active in vitro than both the unmodified peptide and Lys(21)PEG-GRF. '), ('8520', 'CD18_CD11B', '', 'CD18', 'CD11B', '8872506', '12', '', '', '', '', '', '', '', '', '', 'The intention of this study was to clarify how activation of phospholipase D (PLD) is coupled to the complement receptor three (CR3, CD18/CD11b)-mediated ingestion process. '), ('8521', 'CD8_CD16', '', 'CD8', '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-. '), ('8522', 'CD43_CD23', '', 'CD43', 'CD23', '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%). '), ('8523', 'PDGFRA_KIT', '', 'PDGFRA', 'KIT', '25346074', '12', 'synovial sarcoma;sarcoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'A confident distinction between abdominal synovial sarcoma and GIST requires KIT/PDGFRA mutation analyses and specific molecular testing for synovial sarcoma..     ///    \"Four cases of primary abdominal synovial sarcoma were reviewed morphologically and with immunohistochemistry, fluorescence in-situ hybridization with an SS18 break-apart probe, and KIT/PDGFRA mutation analysis. \"'), ('8524', 'PTD_MLL', '', 'PTD', 'MLL', '16341046', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', 'PCR', '', '', '', '', '', '', '', 'MLL-PTD was rare in childhood AML.     ///    MLL(+) adults had a poor outcome with no difference in survival between MLL-PTD and MLL/t11q23 groups..     ///    11q23 abnormalities were detected in 64% of MLL/t11q23 and in none of MLL-PTD by conventional cytogenetics.     ///    The frequency of MLL-PTD was 7.1% in adults and 0.9% in children (P<0.001).     ///    \"There were no differences in remission rate, event-free survival and overall survival between adult MLL-PTD and MLL/t11q23 groups. \"'), ('8525', 'MYC_BCL2', '', 'MYC', 'BCL2', '26224092', '12', 'follicular lymphoma;B cell lymphoma;lymphoma\r\r', '', '', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'BCL2/MYC?DH lymphomas constituted the majority of these DH lymphomas (17 cases. '), ('8526', 'helicase_TOPO', '', 'helicase', 'TOPO', '15889139', '12', '', '', '', '', '', '', '', '', '', 'RMI1/NCE4, a suppressor of genome instability, encodes a member of the RecQ helicase/Topo III complex.. '), ('8527', 'MP2_CAS', '', 'MP2', 'CAS', '26322522', '12', '', '', '', '', '', '', '', '', '', ' The mechanisms of the three reaction pathways for the photochemical transformation of 3,5-dimethylisoxazole (1) in its first singlet excited state (?? ?*)1 have been determined using the CASSCF (11-orbital/14-electron active space) and MP2-CAS methods with the 6-311G(d) basis set. '), ('8528', 'HSP90_HSP70', '', 'HSP90', 'HSP70', '25407331', '12', '', '', '', '', '', '', '', '', '', 'Here we generate several complexes in the Hsp70/Hsp90 folding pathway (Hsp90:Hop, Hsp90:Hop:Hsp70 and Hsp90:Hop:Hsp70 with a fragment of the client protein glucocorticoid receptor (GR-LBD)), and determine their 3D structure using electron microscopy techniques. '), ('8529', 'RARA_PML', '', 'RARA', 'PML', '12353268', '12', 'acute promyelocytic leukemia;leukemia\r\r', 'FISH;PCR;RT-PCR ', '', 'Oncogene', '', 'Receptor', 'Transcription_Factor', 'KB', 'Seq', 'Finally, we assessed the presence of the PML, RARA, PML/RARA, and RARA/PML transcripts by RT-PCR and of the PML/RARA and RARA proteins by Western blotting in all the cell lines. '), ('8530', 'MSCS_HGF', '', 'MSCS', 'HGF', '22570218', '12', '', '', '', '', '', '', '', '', '', 'Collectively, these results demonstrate that neural differentiation of MSCs influences their chemotactic responses to HGF: MSCs in varying differentiation states possess different migratory capacities, thereby shedding light on optimization of the therapeutic potential of MSCs to be employed for neural regeneration after injury.. '), ('8531', 'GTF3C2_ALK', '', 'GTF3C2', 'ALK', '25602801', '12', 'melanoma\r\r', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', '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. '), ('8532', 'TNFA_TNFA', '', 'TNFA', 'TNFA', '12847245', '12', '', '', '', '', '', '', '', '', '', 'Likewise, addition of a neutralizing anti-TNF-alpha mAb to cocultures could not overcome inhibition of T cell proliferation by UVB-DC, excluding involvement of the TNF-alpha/TNF-alphaR pathway. '), ('8533', 'WNT5A_JNK', '', 'WNT5A', 'JNK', '21055947', '12', '', '', '', '', '', '', '', '', '', 'WNT5A/JNK and FGF/MAPK pathways regulate the cellular events shaping the vertebrate limb bud..     ///    We show that WNT5A/JNK is necessary for the proper orientation of cell movements and cell division. '), ('8534', 'CD8_CD4', '', 'CD8', 'CD4', '9049784', '12', 'common variable immunodeficiency', '', '', '', '', '', '', '', '', 'The state of current knowledge regarding gamma delta T lymphocytosis, decreased production of alpha beta T lymphocytes, and a low CD4/ CD8 ratio in association with CVID is discussed..     ///    \"Flow cytometry of peripheral blood revealed an expansion of gamma delta T lymphocytes, mild CD4 T lymphocytopenia, and a reduced CD4/CD8 ratio (0.2). \"'), ('8535', 'RET_PTC1', '', 'RET', 'PTC1', '14870776', '12', 'thyroid carcinoma\r\r', '', 'Kinase', 'Oncogene', '', '', '', '', '', 'The present report summarizes the cellular effects of the arylidene 2-indolinone Ret inhibitor RPI-1 (formerly Cpd1) on the human PTC cell line TPC-1 which spontaneously harbors the RET/PTC1 oncogene.     ///    RET/PTC oncoproteins: molecular targets of new drugs.. '), ('8536', 'TLX1_TLX', '', 'TLX1', 'TLX', '22516263', '12', 'acute lymphoid leukemia', '', '', '', '', '', '', '', '', 'Importantly, the autoextinction of clones carrying TCR?-driven TLX1 expression supports TLX \"addiction\" in TLX-positive leukemias and provides further rationale for targeted therapy based on disruption of TLX1/TLX3.. '), ('8537', 'CBP80_CBP20', '', 'CBP80', 'CBP20', '21447822', '12', '', '', '', '', '', '', '', '', '', 'Newly synthesized mRNPs bound by the cap-binding protein heterodimer CBP80-CBP20 (CBC) initially undergo a pioneer round of translation. '), ('8538', 'CFHR3_CFHR1', '', 'CFHR3', 'CFHR1', '19745068', '12', 'age-related macular degeneration', '', '', '', '', '', '', '', '', 'Notably, deficiency of CFHR1/CFHR3 associates with protection against age-related macular degeneration and with the presence of anti-fH autoantibodies in atypical hemolytic uremic syndrome (aHUS). '), ('8539', 'PEG_PCL', '', 'PEG', 'PCL', '19957286', '12', '', '', '', '', '', '', '', '', '', 'In this work, XPS analysis of PCL-PEG copolymers was carried out, as well as morphological and wettability evaluations by SEM and CA measurements, respectively. '), ('8540', 'PIK3CA_KRAS', '', 'PIK3CA', 'KRAS', '24158231', '12', 'squamous cell carcinoma', '', 'Kinase', 'Oncogene', '', '', '', '', '', '95% CI, 18.7%-37.4%) were found to harbor known oncogenic mutations, including 10 with EGFR, seven with KRAS, three with PIK3CA, one with BRAF, one with HER2, one each with EGFR/PIK3CA and KRAS/PIK3CA double mutations, and two with EML4-ALK fusions. '), ('8541', 'PLP_AGT', '', 'PLP', 'AGT', '17696873', '12', 'primary hyperoxaluria', '', '', '', '', '', '', '', '', 'The striking molecular defect of the mutant, consisting in the dramatic decrease of the overall catalytic activity (approximately 0.1% of that of normal AGT), appears to be related to the inability to undergo an efficient transaldimination of the PLP form of the enzyme with amino acids as well as an efficient conversion of AGT-PMP into AGT-PLP. '), ('8542', 'TCC_HSP', '', 'TCC', 'HSP', '19105190', '12', '', '', '', '', '', '', '', '', '', ' Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. '), ('8543', 'RAC1_CDC42', '', 'RAC1', 'CDC42', '12181358', '12', '', '', '', '', '', '', '', '', '', 'We conclude that the association of PI-3 kinase with PAK1 regulates PAK1 kinase activity through a Cdc42/Rac1-independent mechanism leading to actin phosphorylation and cytoskeletal reorganization..     ///    \"Here we report that even though Cdc42/Rac1 or Akt are not activated, phosphatidylinositol-3 (PI-3) kinase activation induces PAK1 kinase activity. \"    ///    \"The association of the PI-3 kinase with the Cdc42/Rac1 binding-deficient PAK1(H83,86L) confirms that the small GTPases are not involved in the PI-3 kinase-PAK1 interaction. \"'), ('8544', 'U26_U14', '', 'U26', 'U14', '20078041', '12', '', '', '', '', '', '', '', '', '', 'Measured distances between spin labels at positions U4-U14, U4-U15, U14-U26, and U15-U26 were unchanged upon neomycin binding which implies that the global stem-loop architecture is preserved in the absence and presence of the ligand. '), ('8545', 'CD8_CD4', '', 'CD8', 'CD4', '9402331', '12', 'hypereosinophilic syndrome\r\r', '', '', '', '', '', '', '', '', 'Although HES is defined by the combination of unexplained prolonged eosinophilia and evidence of organ involvement, these observations suggest that increased production of eosinophil-stimulating cytokines from the abnormal T-cells with phenotype CD3- CD4+ or CD3+ CD4- CD8- may cause eosinophilia, some of which have been diagnosed as HES..     ///    \"Recently, we and other groups have reported several cases of eosinophilia including hypereosinophilic syndrome (HES) accompanied with proliferation of abnormal T-cells with an unusual phenotype CD3- CD4+ or CD3+ CD4- CD8- in the peripheral blood. \"'), ('8546', 'SAG_MHC', '', 'SAG', 'MHC', '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. '), ('8547', 'ICAM1_CD43', '', 'ICAM1', 'CD43', '1433960', '12', 'leukemia\r\r', '', '', '', '', '', '', '', '', 'Thus, CD43-ICAM-1 system might be a new type of cytokine system which regulate cell-proliferation through cell-cell interaction. '), ('8548', 'TCR_MHC', '', 'TCR', 'MHC', '22105329', '12', '', '', '', '', '', '', '', '', '', 'Finally, comparison of CD3(-)  and CD3(+)  thymocyte repertoires indicated that the observed V-J combination overlap was already present before TCR-MHC selection in the thymus. '), ('8549', 'SOX2_OCT4', '', 'SOX2', 'OCT4', '25158628', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'RoDs co-localize with binding sites of key developmental regulators, including the reprogramming factors Klf4, Oct4/Sox2 and c-Myc. '), ('8550', 'EML4_ALK', '', 'EML4', 'ALK', '23533265', '12', 'non small cell lung cancer;non small cell lung cancer;lung cancer\r\r', '', 'Kinase', 'Oncogene', '', '', '', 'KB', 'Seq', 'Here, we show that the Hsp90 inhibitor ganetespib induced loss of EML4-ALK expression and depletion of multiple oncogenic signaling proteins in ALK-driven NSCLC cells, leading to greater in vitro potency, superior antitumor efficacy, and prolonged animal survival compared with results obtained with crizotinib. '), ('8551', 'TAL1_STIL', '', 'TAL1', 'STIL', '22226019', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', 'STIL-TAL1 was detected in 22.7% of T-ALL cases. '), ('8552', 'RAG2_RAG1', '', 'RAG2', 'RAG1', '25903130', '12', '', '', '', '', '', '', '', '', '', 'The lymphoid-specific RAG1-RAG2 protein complex (RAG1/2) initiates this process by binding to two types of recombination signal sequences (RSS), 12RSS and 23RSS, and cleaving at the boundaries of RSS and V, D, or J gene segments, which are to be assembled into immunoglobulins and T-cell receptors. '), ('8553', 'XIST_TSIX', '', 'XIST', 'TSIX', '17333538', '12', '', '', '', '', '', '', '', '', '', 'The failure to find XIST/TSIX in M. '), ('8554', 'MTS2_MTS1', '', 'MTS2', 'MTS1', '9446664', '12', 'T ALL\r\r', '', '', '', '', '', '', '', '', ' We have previously shown that the disruption/deletion of the MTS(MTS1-MTS2) locus due to illegitimate V(D)J recombinase activity is a genetic event characteristic of T-cell acute lymphoblastic leukemia (T-ALL). '), ('8555', 'MYH11_CBFB', '', 'MYH11', 'CBFB', '23053179', '12', 'acute myeloid leukemia;myeloid leukemia;leukemia\r\r', '', '', '', '', '', '', '', '', 'The study patients consisted of 121 patients with CBF AML (82 patients with RUNX1/RUNX1T1 [67.8?%] and 39 patients with CBFB/MYH11 [32.2?%]) recruited from eight institutions in Korea. '), ('8556', 'NCOA2_ETV6', '', 'NCOA2', 'ETV6', '22373549', '12', 'acute lymphoblastic leukemia;T ALL;lymphoblastic leukemia;leukemia\r\r', 'PCR;RT-PCR', '', '', '', '', 'Transcription_Factor', '', '', '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%). '), ('8557', 'RAF1_BCL2', '', 'RAF1', 'BCL2', '12497208', '12', '', '', 'Kinase', 'Oncogene', '', '', 'Transcription_Factor', '', '', 'At a cellular level, the effects of jatrophanes on microtubular architecture, nuclear morphology, cell viability, cell cycle perturbations, and p53 and Raf-1/Bcl-2 involvement were investigated.     ///    \"Moreover, they influenced p53 expression and Raf-1/Bcl-2 activation. \"'), ('8558', 'BID_BCLW', '', 'BID', 'BCLW', '16475813', '12', '', '', '', '', '', '', '', '', '', 'Structural model of the BCL-w-BID peptide complex and its interactions with phospholipid micelles.. '), ('8559', 'CD41_CD34', '', 'CD41', 'CD34', '10688818', '12', '', '', '', '', '', '', 'Transcription_Factor', '', '', 'Surprisingly, a homogeneous population of CD34(-)CD41(+)CD42(-) cells accumulated during the cultures. '), ('8560', 'RET_PTC', '', 'RET', 'PTC', '12975039', '12', 'thyroid carcinoma\r\r', 'PCR', 'Kinase', 'Oncogene', '', '', '', '', '', 'In the case of thyroid epithelial neoplasia, tumor markers such as PTEN/MMAC1/TEP1, telomerase, RET/PTC, b-catenine, PAX8/PPAR(1, ciclooxygenase, thyroid stimulating hormonal receptor (TSHR), and thyro-globulin are being investigated. ');
