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PubMed (GeneRIF) for id: 7062

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Page 1
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.
Ü Basmanav FB, Cau L, Tafazzoli A, Méchin MC, Wolf S, Romano MT, Valentin F, Wiegmann H, Huchenq A, Kandil R, Garcia Bartels N, Kilic A, George S, Ralser DJ, Bergner S, Ferguson DJP, Oprisoreanu AM, Wehner M, Thiele H, Altmüller J, Nürnberg P, Swan D, Houniet D, Büchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Ü Basmanav FB, et al. Am J Hum Genet. 2016 Dec 1;99(6):1292-1304. doi: 10.1016/j.ajhg.2016.10.004. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866708 Free PMC article.
Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
Petrova A, Capalbo A, Jacquet L, Hazelwood-Smith S, Dafou D, Hobbs C, Arno M, Farcomeni A, Devito L, Badraiq H, Simpson M, McGrath JA, Di WL, Cheng JB, Mauro TM, Ilic D. Petrova A, et al. Stem Cells Dev. 2016 Sep 15;25(18):1366-75. doi: 10.1089/scd.2016.0156. Epub 2016 Aug 30. Stem Cells Dev. 2016. PMID: 27460132 Free PMC article.
Common variants in the trichohyalin gene are associated with straight hair in Europeans.
Medland SE, Nyholt DR, Painter JN, McEvoy BP, McRae AF, Zhu G, Gordon SD, Ferreira MA, Wright MJ, Henders AK, Campbell MJ, Duffy DL, Hansell NK, Macgregor S, Slutske WS, Heath AC, Montgomery GW, Martin NG. Medland SE, et al. Am J Hum Genet. 2009 Nov;85(5):750-5. doi: 10.1016/j.ajhg.2009.10.009. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896111 Free PMC article.