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Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health Human Services. 2020
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Imatinib FDA Label
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Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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ClinicalTrials.gov (NCT00574236) Phase II Trial of Bortezomib and Doxorubicin in Metastatic Breast Cancer. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT02401815) CGT9486 (Formerly Known as PLX9486) as a Single Agent and in Combination With PLX3397 (Pexidartinib) or Sunitinib in Participants With Advanced Solid Tumors. U.S. National Institutes of Health.
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Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
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Predicting Malignancy Risk in Gastrointestinal Subepithelial Tumors with Contrast-Enhanced Harmonic Endoscopic Ultrasonography Using Perfusion Analysis Software.Gut Liver. 2019 Mar 15;13(2):161-168. doi: 10.5009/gnl18185.
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Insulin-like growth factor (IGF) 1 and 2 help to predict disease outcome in GIST patients.Ann Oncol. 2008 Jul;19(7):1293-1298. doi: 10.1093/annonc/mdn040. Epub 2008 Mar 27.
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MicroRNA involvement in gastrointestinal stromal tumor tumorigenesis.Curr Pharm Des. 2013;19(7):1227-35. doi: 10.2174/138161213804805748.
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Heat shock protein 90 overexpression independently predicts inferior disease-free survival with differential expression of the alpha and beta isoforms in gastrointestinal stromal tumors.Clin Cancer Res. 2008 Dec 1;14(23):7822-31. doi: 10.1158/1078-0432.CCR-08-1369.
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Management of localized gastrointestinal stromal tumors and adjuvant therapy with imatinib.Anticancer Drugs. 2012 Jun;23 Suppl:S3-6. doi: 10.1097/CAD.0b013e3283559fab.
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MAPKAP kinase 2 overexpression influences prognosis in gastrointestinal stromal tumors and associates with copy number variations on chromosome 1 and expression of p38 MAP kinase and ETV1.Clin Cancer Res. 2012 Apr 1;18(7):1879-87. doi: 10.1158/1078-0432.CCR-11-2364. Epub 2012 Feb 20.
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Opposing roles of KIT and ABL1 in the therapeutic response of gastrointestinal stromal tumor (GIST) cells to imatinib mesylate.Oncotarget. 2017 Jan 17;8(3):4471-4483. doi: 10.18632/oncotarget.13882.
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PDCD2 and NCoR1 as putative tumor suppressors in gastric gastrointestinal stromal tumors.Cell Oncol (Dordr). 2016 Apr;39(2):129-37. doi: 10.1007/s13402-015-0258-0. Epub 2015 Nov 20.
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CTHRC1 acts as a prognostic factor and promotes invasiveness of gastrointestinal stromal tumors by activating Wnt/PCP-Rho signaling.Neoplasia. 2014 Mar;16(3):265-78, 278.e1-13. doi: 10.1016/j.neo.2014.03.001. Epub 2014 Apr 13.
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Genetic polymorphisms in angiogenesis-related genes are associated with worse progression-free survival of patients with advanced gastrointestinal stromal tumours treated with imatinib.Eur J Cancer. 2017 Nov;86:226-232. doi: 10.1016/j.ejca.2017.09.025. Epub 2017 Oct 18.
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Gastrointestinal stromal tumors (GISTs) express somatostatin receptors and bind radiolabeled somatostatin analogs.Acta Oncol. 2013 May;52(4):783-92. doi: 10.3109/0284186X.2012.733075. Epub 2012 Nov 1.
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Phase I Study of Rapid Alternation of Sunitinib and Regorafenib for the Treatment of Tyrosine Kinase Inhibitor Refractory Gastrointestinal Stromal Tumors.Clin Cancer Res. 2019 Dec 15;25(24):7287-7293. doi: 10.1158/1078-0432.CCR-19-2150. Epub 2019 Aug 30.
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Association between the exposure to anti-angiogenic agents and tumour immune microenvironment in advanced gastrointestinal stromal tumours.Br J Cancer. 2019 Nov;121(10):819-826. doi: 10.1038/s41416-019-0596-1. Epub 2019 Oct 14.
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Kit K641E oncogene up-regulates Sprouty homolog 4 and trophoblast glycoprotein in interstitial cells of Cajal in a murine model of gastrointestinal stromal tumours.J Cell Mol Med. 2009 Aug;13(8A):1536-48. doi: 10.1111/j.1582-4934.2009.00768.x. Epub 2009 May 19.
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Role of PLK1 signaling pathway genes in gastrointestinal stromal tumors.Oncol Lett. 2018 Sep;16(3):3070-3082. doi: 10.3892/ol.2018.9003. Epub 2018 Jun 21.
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KIT as an Oncogenic Driver in Melanoma: An Update on Clinical Development.Am J Clin Dermatol. 2019 Jun;20(3):315-323. doi: 10.1007/s40257-018-0414-1.
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Increased cyclin D3 expression significantly correlates with p27 nuclear positivity in gastrointestinal stromal tumors.Hum Pathol. 2008 Dec;39(12):1784-91. doi: 10.1016/j.humpath.2008.05.007. Epub 2008 Aug 12.
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Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression. Oncotarget. 2016 Nov 29;7(48):78226-78241. doi: 10.18632/oncotarget.12909.
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Recurrent DMD Deletions Highlight Specific Role of Dp71 Isoform in Soft-Tissue Sarcomas.Cancers (Basel). 2019 Jul 1;11(7):922. doi: 10.3390/cancers11070922.
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Phosphorylated T567 ezrin is associated with merlin expression in KIT-mutant gastrointestinal stromal tumors.Mol Med Rep. 2012 Jan;5(1):17-21. doi: 10.3892/mmr.2011.609. Epub 2011 Oct 3.
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Gain of FGF4 is a frequent event in KIT/PDGFRA/SDH/RAS-P WT GIST.Genes Chromosomes Cancer. 2019 Sep;58(9):636-642. doi: 10.1002/gcc.22753. Epub 2019 Apr 16.
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A Phase I Study of Binimetinib (MEK162) Combined with Pexidartinib (PLX3397) in Patients with Advanced Gastrointestinal Stromal Tumor.Oncologist. 2019 Oct;24(10):1309-e983. doi: 10.1634/theoncologist.2019-0418. Epub 2019 Jun 18.
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Fascin-1 overexpression and miR-133b downregulation in the progression of gastrointestinal stromal tumor.Mod Pathol. 2013 Apr;26(4):563-71. doi: 10.1038/modpathol.2012.198. Epub 2012 Nov 30.
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GLP-2 receptors in human disease: high expression in gastrointestinal stromal tumors and Crohn's disease.Mol Cell Endocrinol. 2012 Nov 25;364(1-2):46-53. doi: 10.1016/j.mce.2012.08.008. Epub 2012 Aug 19.
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Insights into ligand stimulation effects on gastro-intestinal stromal tumors signalling.Cell Signal. 2017 Jan;29:138-149. doi: 10.1016/j.cellsig.2016.10.009. Epub 2016 Oct 21.
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Immune cells in primary gastrointestinal stromal tumors.Eur J Gastroenterol Hepatol. 2008 Apr;20(4):327-34. doi: 10.1097/MEG.0b013e3282f3a403.
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Expression profiles of stemness genes in gastrointestinal stromal tumor.Hum Pathol. 2018 Jun;76:76-84. doi: 10.1016/j.humpath.2018.02.015. Epub 2018 Feb 25.
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The histologic spectrum of soft tissue spindle cell tumors with NTRK3 gene rearrangements.Genes Chromosomes Cancer. 2019 Nov;58(11):739-746. doi: 10.1002/gcc.22767. Epub 2019 Jun 4.
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Multiple endocrine neoplasias: advances and challenges for the future.J Intern Med. 2009 Jul;266(1):1-4. doi: 10.1111/j.1365-2796.2009.02108.x.
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Potentiation of imatinib by cilostazol in sensitive and resistant gastrointestinal stromal tumor cell lines involves YAP inhibition.Oncotarget. 2019 Mar 5;10(19):1798-1811. doi: 10.18632/oncotarget.26734. eCollection 2019 Mar 5.
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Genomic Subtypes of GISTs for Stratifying Patient Response to Sunitinib following Imatinib Resistance: A Pooled Analysis and Systematic Review.Dis Markers. 2018 Aug 26;2018:1368617. doi: 10.1155/2018/1368617. eCollection 2018.
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Downregulation of phosphatidylethanolamine binding protein 1 associates with clinical risk factors in gastrointestinal stromal tumors, but not with activation of the RAF-1-MEK-ETV1 pathway.Cancer Lett. 2013 Jul 10;335(1):26-30. doi: 10.1016/j.canlet.2013.01.044. Epub 2013 Jan 31.
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Sustained Mutant KIT Activation in the Golgi Complex Is Mediated by PKC- in Gastrointestinal Stromal Tumors.Clin Cancer Res. 2017 Feb 1;23(3):845-856. doi: 10.1158/1078-0432.CCR-16-0521. Epub 2016 Jul 20.
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Diagnostic significance of DOG-1 and PKC- expression and c-Kit/PDGFRA mutations in gastrointestinal stromal tumours.Scand J Gastroenterol. 2013 Sep;48(9):1055-65. doi: 10.3109/00365521.2013.816770. Epub 2013 Jul 17.
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Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene.Gastroenterology. 2002 May;122(5):1493-9. doi: 10.1053/gast.2002.33024.
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Co-expression of monocarboxylate transporter 1 (MCT1) and its chaperone (CD147) is associated with low survival in patients with gastrointestinal stromal tumors (GISTs).J Bioenerg Biomembr. 2012 Feb;44(1):171-8. doi: 10.1007/s10863-012-9408-5. Epub 2012 Jan 27.
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Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy. Pharmacol Res. 2013 Feb;68(1):1-6.
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Influence of CYP2C8 polymorphisms on imatinib steady-state trough level in chronic myeloid leukemia and gastrointestinal stromal tumor patients.Pharmacogenet Genomics. 2017 Jun;27(6):223-226. doi: 10.1097/FPC.0000000000000278.
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Role of immune microenvironment in gastrointestinal stromal tumours.Histopathology. 2018 Feb;72(3):405-413. doi: 10.1111/his.13382. Epub 2017 Nov 21.
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A systems biological approach to identify key transcription factors and their genomic neighborhoods in human sarcomas.Chin J Cancer. 2011 Jan;30(1):27-40. doi: 10.5732/cjc.010.10541.
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Management and outcomes of ruptured, perforated or fistulized tumors of mesenchymal origin.J Surg Oncol. 2020 Mar;121(3):474-479. doi: 10.1002/jso.25807. Epub 2019 Dec 17.
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Genetic alterations in cell cycle regulation-associated genes may promote primary progression of gastrointestinal stromal tumors.Lab Invest. 2020 Mar;100(3):426-437. doi: 10.1038/s41374-019-0322-x. Epub 2019 Sep 30.
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Highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas.Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3414-9. doi: 10.1073/pnas.0611373104. Epub 2007 Feb 21.
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Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. Front Oncol. 2013 May 17;3:117. doi: 10.3389/fonc.2013.00117. eCollection 2013.
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Adiponectin receptor expression is elevated in colorectal carcinomas but not in gastrointestinal stromal tumors.Endocr Relat Cancer. 2008 Mar;15(1):289-99. doi: 10.1677/ERC-07-0197.
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AMPD3 is associated with the malignant characteristics of gastrointestinal stromal tumors.Oncol Lett. 2017 Mar;13(3):1281-1287. doi: 10.3892/ol.2016.5532. Epub 2016 Dec 23.
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Gastrointestinal stromal tumors regularly express synaptic vesicle proteins: evidence of a neuroendocrine phenotype.Endocr Relat Cancer. 2007 Sep;14(3):853-63. doi: 10.1677/ERC-06-0014.
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Aberrant methylation status of known methylation-sensitive CpG islands in gastrointestinal stromal tumors without any correlation to the state of c-kit and PDGFRA gene mutations and their malignancy.Cancer Sci. 2008 Feb;99(2):253-9. doi: 10.1111/j.1349-7006.2007.00682.x.
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NKp30 isoforms and NKp30 ligands are predictive biomarkers of response to imatinib mesylate in metastatic GIST patients.Oncoimmunology. 2016 Apr 25;6(1):e1137418. doi: 10.1080/2162402X.2015.1137418. eCollection 2017.
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Up-regulated expression of ADAM17 in gastrointestinal stromal tumors: coexpression with EGFR and EGFR ligands.Cancer Sci. 2009 Apr;100(4):654-62. doi: 10.1111/j.1349-7006.2009.01089.x. Epub 2009 Mar 1.
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Overexpression of carbonic anhydrase-related protein XI promotes proliferation and invasion of gastrointestinal stromal tumors.Virchows Arch. 2005 Jul;447(1):66-73. doi: 10.1007/s00428-005-1225-3. Epub 2005 Jun 8.
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Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.Arch Pathol Lab Med. 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM.
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CCBE1 promotes GIST development through enhancing angiogenesis and mediating resistance to imatinib.Sci Rep. 2016 Aug 10;6:31071. doi: 10.1038/srep31071.
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Cyclin H expression is increased in GIST with very-high risk of malignancy.BMC Cancer. 2010 Jul 2;10:350. doi: 10.1186/1471-2407-10-350.
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Downregulation of CIC does not associate with overexpression of ETV1 or MAP kinase pathway activation in gastrointestinal stromal tumors.Cancer Invest. 2014 Aug;32(7):363-7. doi: 10.3109/07357907.2014.919304. Epub 2014 Jun 4.
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Proteomic detection of a large amount of SCGF in the stroma of GISTs after imatinib therapy.J Transl Med. 2011 Sep 23;9:158. doi: 10.1186/1479-5876-9-158.
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Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).BMC Cancer. 2014 Sep 20;14:685. doi: 10.1186/1471-2407-14-685.
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Oncogenic Kit signalling on the Golgi is suppressed by blocking secretory trafficking with M-COPA in gastrointestinal stromal tumours.Cancer Lett. 2018 Feb 28;415:1-10. doi: 10.1016/j.canlet.2017.11.032. Epub 2017 Nov 28.
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A molecular portrait of gastrointestinal stromal tumors: an integrative analysis of gene expression profiling and high-resolution genomic copy number.Lab Invest. 2010 Sep;90(9):1285-94. doi: 10.1038/labinvest.2010.110. Epub 2010 Jun 14.
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Cyclin D1 is a mediator of gastrointestinal stromal tumor KIT-independence.Oncogene. 2019 Sep;38(39):6615-6629. doi: 10.1038/s41388-019-0894-3. Epub 2019 Aug 1.
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Mutational inactivation of mTORC1 repressor gene DEPDC5 in human gastrointestinal stromal tumors.Proc Natl Acad Sci U S A. 2019 Nov 5;116(45):22746-22753. doi: 10.1073/pnas.1914542116. Epub 2019 Oct 21.
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Novel clinically relevant genes in gastrointestinal stromal tumors identified by exome sequencing.Clin Cancer Res. 2013 Oct 1;19(19):5329-39. doi: 10.1158/1078-0432.CCR-12-3863. Epub 2013 Aug 13.
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ETV4 collaborates with Wnt/-catenin signaling to alter cell cycle activity and promote tumor aggressiveness in gastrointestinal stromal tumor.Oncotarget. 2017 Dec 11;8(69):114195-114209. doi: 10.18632/oncotarget.23173. eCollection 2017 Dec 26.
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The tyrosine phosphatase SHP2 is required for cell transformation by the receptor tyrosine kinase mutants FIP1L1-PDGFR and PDGFR D842V.Mol Oncol. 2014 May;8(3):728-40. doi: 10.1016/j.molonc.2014.02.003. Epub 2014 Feb 17.
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Dysadherin expression in gastrointestinal stromal tumors (GISTs).Pathol Res Pract. 2009;205(7):445-50. doi: 10.1016/j.prp.2008.12.020. Epub 2009 Feb 12.
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Gastrointestinal stromal tumor enhancers support a transcription factor network predictive of clinical outcome.Proc Natl Acad Sci U S A. 2018 Jun 19;115(25):E5746-E5755. doi: 10.1073/pnas.1802079115. Epub 2018 Jun 4.
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The DREAM complex mediates GIST cell quiescence and is a novel therapeutic target to enhance imatinib-induced apoptosis.Cancer Res. 2013 Aug 15;73(16):5120-9. doi: 10.1158/0008-5472.CAN-13-0579. Epub 2013 Jun 20.
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Aberrations of chromosome 13q in gastrointestinal stromal tumors: analysis of 91 cases by fluorescence in situ hybridization (FISH).Diagn Mol Pathol. 2009 Jun;18(2):72-80. doi: 10.1097/PDM.0b013e318181fa1f.
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Gene expression network analysis of ETV1 reveals KCTD10 as a novel prognostic biomarker in gastrointestinal stromal tumor.PLoS One. 2013 Aug 19;8(8):e73896. doi: 10.1371/journal.pone.0073896. eCollection 2013.
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Gene expression of the IGF pathway family distinguishes subsets of gastrointestinal stromal tumors wild type for KIT and PDGFRA.Cancer Med. 2013 Feb;2(1):21-31. doi: 10.1002/cam4.57. Epub 2013 Feb 3.
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Nuclear KIT induces a NFKBIB-RELA-KIT autoregulatory loop in imatinib-resistant gastrointestinal stromal tumors.Oncogene. 2019 Sep;38(38):6550-6565. doi: 10.1038/s41388-019-0900-9. Epub 2019 Jul 30.
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Promoter methylation of PCDH10 by HOTAIR regulates the progression of gastrointestinal stromal tumors.Oncotarget. 2016 Nov 15;7(46):75307-75318. doi: 10.18632/oncotarget.12171.
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PIK3C2A is a gene-specific target of microRNA-518a-5p in imatinib mesylate-resistant gastrointestinal stromal tumor.Lab Invest. 2016 Jun;96(6):652-60. doi: 10.1038/labinvest.2015.157. Epub 2016 Mar 7.
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PLCB4 copy gain and PLC4 overexpression in primary gastrointestinal stromal tumors: Integrative characterization of a lipid-catabolizing enzyme associated with worse disease-free survival.Oncotarget. 2017 Mar 21;8(12):19997-20010. doi: 10.18632/oncotarget.15306.
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Identification of key genes related to high-risk gastrointestinal stromal tumors using bioinformatics analysis.J Cancer Res Ther. 2018;14(Supplement):S243-S247. doi: 10.4103/0973-1482.207068.
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Clinicopathological effects of protein phosphatase 2, regulatory subunit A, alpha mutations in gastrointestinal stromal tumors.Mod Pathol. 2016 Nov;29(11):1424-1432. doi: 10.1038/modpathol.2016.138. Epub 2016 Jul 29.
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A Novel PRKAR1B-BRAF Fusion in Gastrointestinal Stromal Tumor Guides Adjuvant Treatment Decision-Making During Pregnancy.J Natl Compr Canc Netw. 2018 Mar;16(3):238-242. doi: 10.6004/jnccn.2017.7039.
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Prognostic value of Rab27B nuclear expression in gastrointestinal stromal tumors.Dis Markers. 2014;2014:942181. doi: 10.1155/2014/942181. Epub 2014 Oct 14.
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High expression of the RNA-binding protein RBPMS2 in gastrointestinal stromal tumors.Exp Mol Pathol. 2013 Apr;94(2):314-21. doi: 10.1016/j.yexmp.2012.12.004. Epub 2013 Jan 4.
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p53 modulation as a therapeutic strategy in gastrointestinal stromal tumors.PLoS One. 2012;7(5):e37776. doi: 10.1371/journal.pone.0037776. Epub 2012 May 25.
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Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth.Mol Oncol. 2018 Aug;12(8):1383-1397. doi: 10.1002/1878-0261.12332. Epub 2018 Jun 30.
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Phosphodiesterase 3A: a new player in development of interstitial cells of Cajal and a prospective target in gastrointestinal stromal tumors (GIST).Oncotarget. 2017 Jun 20;8(25):41026-41043. doi: 10.18632/oncotarget.17010.
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SLITRK3 expression correlation to gastrointestinal stromal tumor risk rating and prognosis.World J Gastroenterol. 2015 Jul 21;21(27):8398-407. doi: 10.3748/wjg.v21.i27.8398.
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Secreted protein acidic and rich in cysteine-like 1 suppresses metastasis in gastric stromal tumors.BMC Gastroenterol. 2018 Jul 4;18(1):105. doi: 10.1186/s12876-018-0833-8.
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Allelic loss of Hox11L1 gene locus predicts outcome of gastrointestinal stromal tumors.Oncol Rep. 2006 Oct;16(4):915-9.
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TIPE2 acts as a biomarker for GIST risk category and suppresses the viability and invasiveness of GIST cells.Cell Biosci. 2018 Dec 5;8:62. doi: 10.1186/s13578-018-0261-z. eCollection 2018.
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Correction to: Histone demethylase KDM4D promotes gastrointestinal stromal tumor progression through HIF1/VEGFA signalling.Mol Cancer. 2018 Sep 13;17(1):135. doi: 10.1186/s12943-018-0885-y.
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FAM96A Protects Mice From Dextran Sulfate Sodium (DSS)-Induced Colitis by Preventing Microbial Dysbiosis.Front Cell Infect Microbiol. 2019 Nov 18;9:381. doi: 10.3389/fcimb.2019.00381. eCollection 2019.
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The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.J Intern Med. 2009 Jul;266(1):43-52. doi: 10.1111/j.1365-2796.2009.02110.x.
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Collagen triple helix repeat containing 1 promotes tumor angiogenesis in gastrointestinal stromal tumors.Oncol Lett. 2017 Dec;14(6):7499-7505. doi: 10.3892/ol.2017.7111. Epub 2017 Oct 2.
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Gastrointestinal stromal tumors. A clinicopathological study.Saudi Med J. 2019 Feb;40(2):126-130. doi: 10.15537/smj.2019.2.23913.
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Aberrant accumulation of Dickkopf 4 promotes tumor progression via forming the immune suppressive microenvironment in gastrointestinal stromal tumor.Cancer Med. 2019 Sep;8(11):5352-5366. doi: 10.1002/cam4.2437. Epub 2019 Jul 29.
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What's the FOX Got to Do with the KITten? Regulating the Lineage-Specific Transcriptional Landscape in GIST.Cancer Discov. 2018 Feb;8(2):146-149. doi: 10.1158/2159-8290.CD-17-1370.
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Integrated analysis of gene expression and copy number identified potential cancer driver genes with amplification-dependent overexpression in 1,454 solid tumors.Sci Rep. 2017 Apr 4;7(1):641. doi: 10.1038/s41598-017-00219-3.
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Insights into the Proteome of Gastrointestinal Stromal Tumors-Derived Exosomes Reveals New Potential Diagnostic Biomarkers.Mol Cell Proteomics. 2018 Mar;17(3):495-515. doi: 10.1074/mcp.RA117.000267. Epub 2017 Dec 14.
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Identifying Secondary Mutations in Chinese Patients with Imatinib-Resistant Gastrointestinal Stromal Tumors (GISTs) by Next Generation Sequencing (NGS).Pathol Oncol Res. 2020 Jan;26(1):91-100. doi: 10.1007/s12253-019-00770-6. Epub 2019 Nov 22.
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miR-125a-5p regulation increases phosphorylation of FAK that contributes to imatinib resistance in gastrointestinal stromal tumors.Exp Cell Res. 2018 Oct 1;371(1):287-296. doi: 10.1016/j.yexcr.2018.08.028. Epub 2018 Aug 24.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
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