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Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28.
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A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene. J Med Genet. 2012 Apr;49(4):246-8. doi: 10.1136/jmedgenet-2012-100783.
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Genetic Association Study Between the COL11A1 and COL18A1 Genes and High Myopia in a Han Chinese Population.Genet Test Mol Biomarkers. 2018 Jun;22(6):359-365. doi: 10.1089/gtmb.2017.0235. Epub 2018 May 21.
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COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity.J Ophthalmol. 2019 Jan 27;2019:2604386. doi: 10.1155/2019/2604386. eCollection 2019.
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Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings. Am J Med Genet A. 2014 Oct;164A(10):2601-6. doi: 10.1002/ajmg.a.36681. Epub 2014 Jul 29.
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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339.
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Development of novel real-time PCR methodology for quantification of COL11A1 mRNA variants and evaluation in breast cancer tissue specimens.BMC Cancer. 2015 Oct 14;15:694. doi: 10.1186/s12885-015-1725-8.
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950.
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Colorectal carcinogenesis is associated with stromal expression of COL11A1 and COL5A2.Carcinogenesis. 2001 Jun;22(6):875-8. doi: 10.1093/carcin/22.6.875.
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Collagen (XI) alpha-1 chain is an independent prognostic factor in breast ductal carcinoma in situ.Mod Pathol. 2019 Oct;32(10):1460-1472. doi: 10.1038/s41379-019-0286-9. Epub 2019 Jun 7.
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Inhibitor of apoptosis proteins (IAPs) mediate collagen type XI alpha 1-driven cisplatin resistance in ovarian cancer.Oncogene. 2018 Aug;37(35):4809-4820. doi: 10.1038/s41388-018-0297-x. Epub 2018 May 17.
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The clinical significance of collagen family gene expression in esophageal squamous cell carcinoma.PeerJ. 2019 Oct 4;7:e7705. doi: 10.7717/peerj.7705. eCollection 2019.
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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37. Genet Med. 2019 Apr;21(4):948-954. doi: 10.1038/s41436-018-0285-0. Epub 2018 Sep 24.
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Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Nat Genet. 2019 Feb;51(2):230-236.
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Development of novel real-time RT-qPCR methodologies for quantification of the COL11A1 mRNA general and C transcripts and evaluation in non-small cell lung cancer specimens.J BUON. 2018 Nov-Dec;23(6):1699-1710.
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A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nat Commun. 2018 Jun 11;9(1):2278. doi: 10.1038/s41467-018-04555-4.
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A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct;164A(10):2607-12. doi: 10.1002/ajmg.a.36688. Epub 2014 Aug 4.
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Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.Am J Med Genet A. 2020 Mar;182(3):557-560. doi: 10.1002/ajmg.a.61452. Epub 2019 Dec 12.
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Craniofacial cartilage morphogenesis requires zebrafish col11a1 activity.Matrix Biol. 2009 Oct;28(8):490-502. doi: 10.1016/j.matbio.2009.07.004. Epub 2009 Jul 26.
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Collagen type XI 1 facilitates head and neck squamous cell cancer growth and invasion.Br J Cancer. 2013 Dec 10;109(12):3049-56. doi: 10.1038/bjc.2013.624. Epub 2013 Nov 14.
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A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14.
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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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Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss. J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6.
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Comparative genomic analysis of collagen gene diversity.3 Biotech. 2019 Mar;9(3):83. doi: 10.1007/s13205-019-1616-9. Epub 2019 Feb 14.
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Gene Expression of Col11A1 Is a Marker Not only for Pancreas Carcinoma But also for Adenocarcinoma of the Papilla of Vater, Discriminating Between Carcinoma and Chronic Pancreatitis.Anticancer Res. 2015 Nov;35(11):6153-8.
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Extended association study of PLEKHA7 and COL11A1 with primary angle closure glaucoma in a Han Chinese population.Invest Ophthalmol Vis Sci. 2014 May 22;55(6):3797-802. doi: 10.1167/iovs.14-14370.
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Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho).Ann N Y Acad Sci. 1991;630:259-61. doi: 10.1111/j.1749-6632.1991.tb19598.x.
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Integrated whole genome microarray analysis and immunohistochemical assay identifies COL11A1, GJB2 and CTRL as predictive biomarkers for pancreatic cancer.Cancer Cell Int. 2018 Nov 6;18:174. doi: 10.1186/s12935-018-0669-x. eCollection 2018.
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Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.Ophthalmology. 2003 Jan;110(1):70-7. doi: 10.1016/s0161-6420(02)01446-x.
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Human embryonic stem cell-derived test systems for developmental neurotoxicity: a transcriptomics approach. Arch Toxicol. 2013 Jan;87(1):123-43.
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Evaluation of a human iPSC-derived BBB model for repeated dose toxicity testing with cyclosporine A as model compound. Toxicol In Vitro. 2021 Jun;73:105112. doi: 10.1016/j.tiv.2021.105112. Epub 2021 Feb 22.
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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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Acute hypersensitivity of pluripotent testicular cancer-derived embryonal carcinoma to low-dose 5-aza deoxycytidine is associated with global DNA Damage-associated p53 activation, anti-pluripotency and DNA demethylation. PLoS One. 2012;7(12):e53003. doi: 10.1371/journal.pone.0053003. Epub 2012 Dec 27.
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Identification of novel low-dose bisphenol a targets in human foreskin fibroblast cells derived from hypospadias patients. PLoS One. 2012;7(5):e36711. doi: 10.1371/journal.pone.0036711. Epub 2012 May 4.
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Temozolomide induces activation of Wnt/-catenin signaling in glioma cells via PI3K/Akt pathway: implications in glioma therapy. Cell Biol Toxicol. 2020 Jun;36(3):273-278. doi: 10.1007/s10565-019-09502-7. Epub 2019 Nov 22.
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Identification of vitamin D3 target genes in human breast cancer tissue. J Steroid Biochem Mol Biol. 2016 Nov;164:90-97.
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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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Transcriptome and DNA methylome dynamics during triclosan-induced cardiomyocyte differentiation toxicity. Stem Cells Int. 2018 Oct 29;2018:8608327.
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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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CXCL14 downregulation in human keratinocytes is a potential biomarker for a novel in vitro skin sensitization test. Toxicol Appl Pharmacol. 2020 Jan 1;386:114828. doi: 10.1016/j.taap.2019.114828. Epub 2019 Nov 14.
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Dasatinib reverses cancer-associated fibroblasts (CAFs) from primary lung carcinomas to a phenotype comparable to that of normal fibroblasts. Mol Cancer. 2010 Jun 27;9:168.
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Rofecoxib modulates multiple gene expression pathways in a clinical model of acute inflammatory pain. Pain. 2007 Mar;128(1-2):136-47.
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Role of phenytoin in wound healing: microarray analysis of early transcriptional responses in human dermal fibroblasts. Biochem Biophys Res Commun. 2004 Feb 13;314(3):661-6. doi: 10.1016/j.bbrc.2003.12.146.
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A transcriptome-based classifier to identify developmental toxicants by stem cell testing: design, validation and optimization for histone deacetylase inhibitors. Arch Toxicol. 2015 Sep;89(9):1599-618.
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Identification by automated screening of a small molecule that selectively eliminates neural stem cells derived from hESCs but not dopamine neurons. PLoS One. 2009 Sep 23;4(9):e7155.
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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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Genome-wide gene expression profiling of low-dose, long-term exposure of human osteosarcoma cells to bisphenol A and its analogs bisphenols AF and S. Toxicol In Vitro. 2015 Aug;29(5):1060-9.
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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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Gene expression profiling of 30 cancer cell lines predicts resistance towards 11 anticancer drugs at clinically achieved concentrations. Int J Cancer. 2006 Apr 1;118(7):1699-712. doi: 10.1002/ijc.21570.
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