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Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.
Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X. Sun M, et al. Among authors: wen y. Am J Hum Genet. 2009 Jun;84(6):807-13. doi: 10.1016/j.ajhg.2009.04.018. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463983 Free PMC article.
Gamma-secretase gene mutations in familial acne inversa.
Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X. Wang B, et al. Among authors: wen y, wen w. Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7. Science. 2010. PMID: 20929727
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin.
Thawer-Esmail F, Jakasa I, Todd G, Wen Y, Brown SJ, Kroboth K, Campbell LE, O'Regan GM, McLean WH, Irvine AD, Kezic S, Sandilands A. Thawer-Esmail F, et al. Among authors: wen y. J Allergy Clin Immunol. 2014 Jan;133(1):280-2.e1-2. doi: 10.1016/j.jaci.2013.09.053. J Allergy Clin Immunol. 2014. PMID: 24369804 Free PMC article. No abstract available.
8,862 results