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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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Biomarker identification and trans-regulatory network analyses in esophageal adenocarcinoma and Barrett's esophagus.World J Gastroenterol. 2019 Jan 14;25(2):233-244. doi: 10.3748/wjg.v25.i2.233.
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Toxicogenomic analysis reveals profibrogenic effects of trichloroethylene in autoimmune-mediated cholangitis in mice.Toxicol Sci. 2014 Oct;141(2):515-23. doi: 10.1093/toxsci/kfu148. Epub 2014 Jul 23.
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Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Am J Med Genet A. 2017 Feb;173(2):524-530. doi: 10.1002/ajmg.a.38035. Epub 2016 Nov 7.
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Aqueous extract of Artemisia iwayomogi Kitamura attenuates cholestatic liver fibrosis in a rat model of bile duct ligation.Food Chem Toxicol. 2012 Oct;50(10):3505-13. doi: 10.1016/j.fct.2012.07.018. Epub 2012 Jul 20.
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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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MicroRNA29: a mechanistic contributor and potential biomarker in atrial fibrillation.Circulation. 2013 Apr 9;127(14):1466-75, 1475e1-28. doi: 10.1161/CIRCULATIONAHA.112.001207. Epub 2013 Mar 4.
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Dentin dysplasia type I-A dental disease with genetic heterogeneity.Oral Dis. 2019 Mar;25(2):439-446. doi: 10.1111/odi.12861. Epub 2018 Apr 10.
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Gene expression profiling in glomeruli of diabetic nephropathy rat.Exp Biol Med (Maywood). 2012 Aug;237(8):903-11. doi: 10.1258/ebm.2012.012032. Epub 2012 Aug 17.
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Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant.Clin Genet. 2020 Feb;97(2):357-361. doi: 10.1111/cge.13643. Epub 2019 Oct 1.
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Renoprotective effects of carvedilol in hypertensive-stroke prone rats may involve inhibition of TGF beta expression.Br J Pharmacol. 2001 Nov;134(5):977-84. doi: 10.1038/sj.bjp.0704329.
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Concomitant apoptosis and regeneration of liver cells as a mechanism of liver-tumor promotion by -naphthoflavone involving TNF-signaling due to oxidative cellular stress in rats.Toxicology. 2011 Apr 28;283(1):8-17. doi: 10.1016/j.tox.2011.01.020. Epub 2011 Feb 2.
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Epigenetic Effects of an Adenosine Derivative in a Wistar Rat Model of Liver Cirrhosis.J Cell Biochem. 2018 Jan;119(1):401-413. doi: 10.1002/jcb.26192. Epub 2017 Jul 4.
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Improved Radiotherapy Sensitivity of Nasopharyngeal Carcinoma Cells by miR-29-3p Targeting COL1A1 3'-UTR.Med Sci Monit. 2019 Apr 29;25:3161-3169. doi: 10.12659/MSM.915624.
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Urinary sediment mRNA level of extracellular matrix molecules in adult nephrotic syndrome.Clin Chim Acta. 2016 May 1;456:157-162. doi: 10.1016/j.cca.2016.03.006. Epub 2016 Mar 16.
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Effects of angiotensin II intervention on MMP-2, MMP-9, TIMP-1, and collagen expression in rats with pulmonary hypertension.Genet Mol Res. 2015 Mar 6;14(1):1707-17. doi: 10.4238/2015.March.6.17.
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Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Am J Med Genet A. 2016 Dec;170(12):3303-3307. doi: 10.1002/ajmg.a.37943. Epub 2016 Aug 23.
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Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans.Oncogene. 1998 Sep 10;17(10):1313-9. doi: 10.1038/sj.onc.1202051.
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Epidermal Growth Factor Like-domain 7 and miR-126 are abnormally expressed in diffuse Systemic Sclerosis fibroblasts.Sci Rep. 2019 Mar 14;9(1):4589. doi: 10.1038/s41598-019-39485-8.
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Raloxifene attenuates Gas6 and apoptosis in experimental aortic valve disease in renal failure.Am J Physiol Heart Circ Physiol. 2011 May;300(5):H1829-40. doi: 10.1152/ajpheart.00240.2010. Epub 2011 Feb 18.
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Comparison of antioxidative and antifibrotic effects of -tocopherol with those of tocotrienol-rich fraction in a rat model of chronic pancreatitis.Pancreas. 2011 Oct;40(7):1091-6. doi: 10.1097/MPA.0b013e31821b59c6.
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miR-96 promotes collagen deposition in keloids by targeting Smad7.Exp Ther Med. 2019 Jan;17(1):773-781. doi: 10.3892/etm.2018.7008. Epub 2018 Nov 23.
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Identification of novel genes associated with fracture healing in osteoporosis induced by Krm2 overexpression or Lrp5 deficiency.Mol Med Rep. 2017 Jun;15(6):3969-3976. doi: 10.3892/mmr.2017.6544. Epub 2017 May 3.
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Cleavage factor 25 deregulation contributes to pulmonary fibrosis through alternative polyadenylation.J Clin Invest. 2019 Feb 28;129(5):1984-1999. doi: 10.1172/JCI122106. Print 2019 May 1.
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Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000 Apr;66(4):1398-402. doi: 10.1086/302859. Epub 2000 Mar 17.
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Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005 May 13;280(19):19259-69. doi: 10.1074/jbc.M414698200. Epub 2005 Feb 22.
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COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7.
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Macrophage-mediated phagocytosis of apoptotic cholangiocytes contributes to reversal of experimental biliary fibrosis.Am J Physiol Gastrointest Liver Physiol. 2010 Mar;298(3):G323-34. doi: 10.1152/ajpgi.00394.2009. Epub 2010 Jan 7.
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Fibroblast gene expression following asthmatic bronchial epithelial cell conditioning correlates with epithelial donor lung function and exacerbation history.Sci Rep. 2018 Oct 25;8(1):15768. doi: 10.1038/s41598-018-34021-6.
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LncRNA COL1A1-014 is involved in the progression of gastric cancer via regulating CXCL12-CXCR4 axis.Gastric Cancer. 2020 Mar;23(2):260-272. doi: 10.1007/s10120-019-01011-0. Epub 2019 Oct 24.
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Activation of the NFAT-Calcium Signaling Pathway in Human Lamina Cribrosa Cells in Glaucoma.Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):831-842. doi: 10.1167/iovs.17-22531.
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microRNA-29b Mediates the Antifibrotic Effect of Tanshinone IIA in Postinfarct Cardiac Remodeling.J Cardiovasc Pharmacol. 2015 May;65(5):456-64. doi: 10.1097/FJC.0000000000000214.
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COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus.Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4080-6. doi: 10.1167/iovs.08-3346. Epub 2009 Apr 22.
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MicroRNA-218-5p relieves postmenopausal osteoporosis through promoting the osteoblast differentiation of bone marrow mesenchymal stem cells.J Cell Biochem. 2020 Feb;121(2):1216-1226. doi: 10.1002/jcb.29355. Epub 2019 Sep 3.
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Human precision-cut liver slices as a model to test antifibrotic drugs in the early onset of liver fibrosis. Toxicol In Vitro. 2016 Sep;35:77-85. doi: 10.1016/j.tiv.2016.05.012. Epub 2016 May 26.
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Integrative "-Omics" analysis in primary human hepatocytes unravels persistent mechanisms of cyclosporine A-induced cholestasis. Chem Res Toxicol. 2016 Dec 19;29(12):2164-2174.
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Phenotypic characterization of retinoic acid differentiated SH-SY5Y cells by transcriptional profiling. PLoS One. 2013 May 28;8(5):e63862.
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Gene expression analysis of precision-cut human liver slices indicates stable expression of ADME-Tox related genes. Toxicol Appl Pharmacol. 2011 May 15;253(1):57-69.
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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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Estrogen Regulates MAPK-Related Genes through Genomic and Nongenomic Interactions between IGF-I Receptor Tyrosine Kinase and Estrogen Receptor-Alpha Signaling Pathways in Human Uterine Leiomyoma Cells. J Signal Transduct. 2012;2012:204236. doi: 10.1155/2012/204236. Epub 2012 Oct 9.
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Antifibrotic effects of quercetin in primary orbital fibroblasts and orbital fat tissue cultures of Graves' orbitopathy. Invest Ophthalmol Vis Sci. 2012 Aug 31;53(9):5921-9. doi: 10.1167/iovs.12-9646.
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Arsenic trioxide inhibits the differentiation of fibroblasts to myofibroblasts through nuclear factor erythroid 2-like 2 (NFE2L2) protein and the Smad2/3 pathway. J Cell Physiol. 2019 Mar;234(3):2606-2617. doi: 10.1002/jcp.27073. Epub 2018 Oct 14.
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Protective effects of myricitrin against osteoporosis via reducing reactive oxygen species and bone-resorbing cytokines. Toxicol Appl Pharmacol. 2014 Nov 1;280(3):550-60.
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Large-scale in silico and microarray-based identification of direct 1,25-dihydroxyvitamin D3 target genes. Mol Endocrinol. 2005 Nov;19(11):2685-95.
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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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Gene Expression Regulation and Pathway Analysis After Valproic Acid and Carbamazepine Exposure in a Human Embryonic Stem Cell-Based Neurodevelopmental Toxicity Assay. Toxicol Sci. 2015 Aug;146(2):311-20. doi: 10.1093/toxsci/kfv094. Epub 2015 May 15.
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Gene expression profiling of rheumatoid arthritis synovial cells treated with antirheumatic drugs. J Biomol Screen. 2007 Apr;12(3):328-40. doi: 10.1177/1087057107299261. Epub 2007 Mar 22.
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CpG hypermethylation of collagen type I alpha 2 contributes to proliferation and migration activity of human bladder cancer. Int J Oncol. 2009 Jun;34(6):1593-602. doi: 10.3892/ijo_00000289.
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Expression profile and synthesis of different collagen types I, II, III, and V of human gingival fibroblasts, osteoblasts, and SaOS-2 cells after bisphosphonate treatment. Clin Oral Investig. 2010 Feb;14(1):51-8. doi: 10.1007/s00784-009-0312-2. Epub 2009 Jul 14.
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Coordinate up-regulation of TMEM97 and cholesterol biosynthesis genes in normal ovarian surface epithelial cells treated with progesterone: implications for pathogenesis of ovarian cancer. BMC Cancer. 2007 Dec 11;7:223.
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Vitamin K promotes mineralization, osteoblast-to-osteocyte transition, and an anticatabolic phenotype by {gamma}-carboxylation-dependent and -independent mechanisms. Am J Physiol Cell Physiol. 2009 Dec;297(6):C1358-67. doi: 10.1152/ajpcell.00216.2009. Epub 2009 Aug 12.
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The anthelmintic drug niclosamide induces GSK--mediated -catenin degradation to potentiate gemcitabine activity, reduce immune evasion ability and suppress pancreatic cancer progression. Cell Death Dis. 2022 Feb 3;13(2):112. doi: 10.1038/s41419-022-04573-7.
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Investigation of in vitro odonto/osteogenic capacity of cannabidiol on human dental pulp cell. J Dent. 2021 Jun;109:103673. doi: 10.1016/j.jdent.2021.103673. Epub 2021 Apr 16.
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MMP-14 and TIMP-2 overexpression protects against hydroquinone-induced oxidant injury in RPE: implications for extracellular matrix turnover. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5662-70. doi: 10.1167/iovs.07-0392.
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Effects of chronic rosiglitazone therapy on gene expression in human adipose tissue in vivo in patients with type 2 diabetes. J Clin Endocrinol Metab. 2007 Feb;92(2):720-4.
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Antirheumatic drug response signatures in human chondrocytes: potential molecular targets to stimulate cartilage regeneration. Arthritis Res Ther. 2009;11(1):R15.
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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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Identification of selective inhibitors of cancer stem cells by high-throughput screening. Cell. 2009 Aug 21;138(4):645-659. doi: 10.1016/j.cell.2009.06.034. Epub 2009 Aug 13.
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Inhibition of systemic sclerosis dermal fibroblast type I collagen production and gene expression by simvastatin. Arthritis Rheum. 2006 Apr;54(4):1298-308. doi: 10.1002/art.21723.
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Pharmacotoxicology of clinically-relevant concentrations of obeticholic acid in an organotypic human hepatocyte system. Toxicol In Vitro. 2017 Mar;39:93-103.
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Beta-carotene and apocarotenals promote retinoid signaling in BEAS-2B human bronchioepithelial cells. Arch Biochem Biophys. 2006 Nov 1;455(1):48-60.
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The effects of particulate wear debris, cytokines, and growth factors on the functions of MG-63 osteoblasts. J Bone Joint Surg Am. 2001 Feb;83(2):201-11. doi: 10.2106/00004623-200102000-00007.
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Acinar cell-specific knockout of the PTHrP gene decreases the proinflammatory and profibrotic responses in pancreatitis. Am J Physiol Gastrointest Liver Physiol. 2014 Sep 1;307(5):G533-49. doi: 10.1152/ajpgi.00428.2013. Epub 2014 Jul 17.
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A high concentration of genistein down-regulates activin A, Smad3 and other TGF-beta pathway genes in human uterine leiomyoma cells. Exp Mol Med. 2012 Apr 30;44(4):281-92.
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Alternatives for the worse: Molecular insights into adverse effects of bisphenol a and substitutes during human adipocyte differentiation. Environ Int. 2021 Nov;156:106730. doi: 10.1016/j.envint.2021.106730. Epub 2021 Jun 27.
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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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