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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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Prospective molecular mechanism of COL5A1 in breast cancer based on a microarray, RNA sequencing and immunohistochemistry.Oncol Rep. 2019 Jul;42(1):151-175. doi: 10.3892/or.2019.7147. Epub 2019 May 3.
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Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.Am J Hum Genet. 1997 Mar;60(3):547-54.
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease.Nat Commun. 2019 Sep 24;10(1):4329. doi: 10.1038/s41467-019-11954-8.
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The COL5A1 gene is associated with increased risk of carpal tunnel syndrome.Clin Rheumatol. 2015 Apr;34(4):767-74. doi: 10.1007/s10067-014-2727-7. Epub 2014 Jun 26.
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Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.
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Overexpression of collagen type V 1 chain in human breast invasive ductal carcinoma is mediated by TGF-1.Int J Oncol. 2018 May;52(5):1694-1704. doi: 10.3892/ijo.2018.4317. Epub 2018 Mar 15.
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Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1.Biosci Rep. 2019 Jul 25;39(7):BSR20181409. doi: 10.1042/BSR20181409. Print 2019 Jul 31.
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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58.
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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.Am J Hum Genet. 1998 Aug;63(2):390-8. doi: 10.1086/301948.
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Discovery of signature genes in gastric cancer associated with prognosis.Neoplasma. 2016;63(2):239-45. doi: 10.4149/209_150531N303.
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Subpath analysis of each subtype of head and neck cancer based on the regulatory relationship between miRNAs and biological pathways.Oncol Rep. 2015 Oct;34(4):1745-54. doi: 10.3892/or.2015.4150. Epub 2015 Jul 24.
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COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.Genomics. 1995 Feb 10;25(3):737-9. doi: 10.1016/0888-7543(95)80021-d.
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Systematically identify key genes in inflammatory and non-inflammatory breast cancer.Gene. 2016 Jan 10;575(2 Pt 3):600-14. doi: 10.1016/j.gene.2015.09.025. Epub 2015 Sep 25.
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Comparative proteomic analysis between normal skin and keloid scar.Br J Dermatol. 2010 Jun;162(6):1302-15. doi: 10.1111/j.1365-2133.2010.09660.x. Epub 2010 Feb 1.
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Evaluating the Association between Keratoconus and Reported Genetic Loci in a Han Chinese Population.Ophthalmic Genet. 2015 Jun;36(2):132-6. doi: 10.3109/13816810.2015.1005317. Epub 2015 Feb 12.
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COL5A1 may contribute the metastasis of lung adenocarcinoma.Gene. 2018 Jul 30;665:57-66. doi: 10.1016/j.gene.2018.04.066. Epub 2018 Apr 24.
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Identification of genes associated with primary open-angle glaucoma by bioinformatics approach.Int Ophthalmol. 2018 Feb;38(1):19-28. doi: 10.1007/s10792-017-0704-2. Epub 2017 Sep 11.
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The long tail of oncogenic drivers in prostate cancer.Nat Genet. 2018 May;50(5):645-651. doi: 10.1038/s41588-018-0078-z. Epub 2018 Apr 2.
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Overexpression of COL5A1 promotes tumor progression and metastasis and correlates with poor survival of patients with clear cell renal cell carcinoma.Cancer Manag Res. 2019 Feb 7;11:1263-1274. doi: 10.2147/CMAR.S188216. eCollection 2019.
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miRNA-145 is downregulated in atypical and anaplastic meningiomas and negatively regulates motility and proliferation of meningioma cells.Oncogene. 2013 Sep 26;32(39):4712-20. doi: 10.1038/onc.2012.468. Epub 2012 Oct 29.
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Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene.Br J Sports Med. 2009 Jul;43(7):514-20. doi: 10.1136/bjsm.2008.053892. Epub 2008 Nov 28.
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Cancer-associated stroma significantly contributes to the mesenchymal subtype signature of serous ovarian cancer.Gynecol Oncol. 2019 Feb;152(2):368-374. doi: 10.1016/j.ygyno.2018.11.014. Epub 2018 Nov 15.
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Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
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IL-17-dependent cellular immunity to collagen type V predisposes to obliterative bronchiolitis in human lung transplants.J Clin Invest. 2007 Nov;117(11):3498-506. doi: 10.1172/JCI28031.
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cDNA microarray profiling of rat mammary gland carcinomas induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine and 7,12-dimethylbenz[a]anthracene.Carcinogenesis. 2002 Oct;23(10):1561-8. doi: 10.1093/carcin/23.10.1561.
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The BstUI and DpnII Variants of the COL5A1 Gene Are Associated With Tennis Elbow.Am J Sports Med. 2015 Jul;43(7):1784-9. doi: 10.1177/0363546515578661. Epub 2015 Apr 20.
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Identification of potential core genes in metastatic renal cell carcinoma using bioinformatics analysis.Am J Transl Res. 2019 Nov 15;11(11):6812-6825. eCollection 2019.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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Primary Human Hepatocyte Spheroids as Tools to Study the Hepatotoxic Potential of Non-Pharmaceutical Chemicals. Int J Mol Sci. 2021 Oct 12;22(20):11005. doi: 10.3390/ijms222011005.
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Development of a neural teratogenicity test based on human embryonic stem cells: response to retinoic acid exposure. Toxicol Sci. 2011 Dec;124(2):370-7.
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Multiple microRNAs function as self-protective modules in acetaminophen-induced hepatotoxicity in humans. Arch Toxicol. 2018 Feb;92(2):845-858.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
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Pleiotropic combinatorial transcriptomes of human breast cancer cells exposed to mixtures of dietary phytoestrogens. Food Chem Toxicol. 2009 Apr;47(4):787-95.
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Prenatal arsenic exposure and the epigenome: identifying sites of 5-methylcytosine alterations that predict functional changes in gene expression in newborn cord blood and subsequent birth outcomes. Toxicol Sci. 2015 Jan;143(1):97-106. doi: 10.1093/toxsci/kfu210. Epub 2014 Oct 10.
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Zoledronate dysregulates fatty acid metabolism in renal tubular epithelial cells to induce nephrotoxicity. Arch Toxicol. 2018 Jan;92(1):469-485.
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Identification of mechanisms of action of bisphenol a-induced human preadipocyte differentiation by transcriptional profiling. Obesity (Silver Spring). 2014 Nov;22(11):2333-43.
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Temporal changes in gene expression in the skin of patients treated with isotretinoin provide insight into its mechanism of action. Dermatoendocrinol. 2009 May;1(3):177-87.
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Cytosine arabinoside induces ectoderm and inhibits mesoderm expression in human embryonic stem cells during multilineage differentiation. Br J Pharmacol. 2011 Apr;162(8):1743-56.
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Transcriptional profiling of testosterone-regulated genes in the skeletal muscle of human immunodeficiency virus-infected men experiencing weight loss. J Clin Endocrinol Metab. 2007 Jul;92(7):2793-802. doi: 10.1210/jc.2006-2722. Epub 2007 Apr 17.
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Differential expression of microRNAs and their predicted targets in renal cells exposed to amphotericin B and its complex with copper (II) ions. Toxicol Mech Methods. 2017 Sep;27(7):537-543. doi: 10.1080/15376516.2017.1333554. Epub 2017 Jun 8.
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The genomic response of a human uterine endometrial adenocarcinoma cell line to 17alpha-ethynyl estradiol. Toxicol Sci. 2009 Jan;107(1):40-55.
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Gene expression profile analysis of 4-phenylbutyrate treatment of IB3-1 bronchial epithelial cell line demonstrates a major influence on heat-shock proteins. Physiol Genomics. 2004 Jan 15;16(2):204-11.
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Definition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests. Arch Toxicol. 2017 Feb;91(2):839-864.
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Air pollution and DNA methylation alterations in lung cancer: A systematic and comparative study. Oncotarget. 2017 Jan 3;8(1):1369-1391. doi: 10.18632/oncotarget.13622.
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BRD4 is a novel therapeutic target for liver fibrosis. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15713-8. doi: 10.1073/pnas.1522163112. Epub 2015 Dec 7.
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Chemical stresses fail to mimic the unfolded protein response resulting from luminal load with unfolded polypeptides. J Biol Chem. 2018 Apr 13;293(15):5600-5612.
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DNA methylome-wide alterations associated with estrogen receptor-dependent effects of bisphenols in breast cancer. Clin Epigenetics. 2019 Oct 10;11(1):138. doi: 10.1186/s13148-019-0725-y.
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From transient transcriptome responses to disturbed neurodevelopment: role of histone acetylation and methylation as epigenetic switch between reversible and irreversible drug effects. Arch Toxicol. 2014 Jul;88(7):1451-68.
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Transcriptome and DNA methylation changes modulated by sulforaphane induce cell cycle arrest, apoptosis, DNA damage, and suppression of proliferation in human liver cancer cells. Food Chem Toxicol. 2020 Feb;136:111047. doi: 10.1016/j.fct.2019.111047. Epub 2019 Dec 12.
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Calorie restriction-induced changes in the secretome of human adipocytes, comparison with resveratrol-induced secretome effects. Biochim Biophys Acta. 2014 Sep;1844(9):1511-22. doi: 10.1016/j.bbapap.2014.04.023. Epub 2014 May 5.
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