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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. Among authors: yang s. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21.
Zhang XJ, Huang W, Yang S, Sun LD, Zhang FY, Zhu QX, Zhang FR, Zhang C, Du WH, Pu XM, Li H, Xiao FL, Wang ZX, Cui Y, Hao F, Zheng J, Yang XQ, Cheng H, He CD, Liu XM, Xu LM, Zheng HF, Zhang SM, Zhang JZ, Wang HY, Cheng YL, Ji BH, Fang QY, Li YZ, Zhou FS, Han JW, Quan C, Chen B, Liu JL, Lin D, Fan L, Zhang AP, Liu SX, Yang CJ, Wang PG, Zhou WM, Lin GS, Wu WD, Fan X, Gao M, Yang BQ, Lu WS, Zhang Z, Zhu KJ, Shen SK, Li M, Zhang XY, Cao TT, Ren W, Zhang X, He J, Tang XF, Lu S, Yang JQ, Zhang L, Wang DN, Yuan F, Yin XY, Huang HJ, Wang HF, Lin XY, Liu JJ. Zhang XJ, et al. Among authors: yang s, yang cj, yang jq, yang bq, yang xq. Nat Genet. 2009 Feb;41(2):205-10. doi: 10.1038/ng.310. Epub 2009 Jan 25. Nat Genet. 2009. PMID: 19169255
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang X, Guo BR, Cai LQ, Jiang T, Sun LD, Cui Y, Hu JC, Zhu J, Chen G, Tang XF, Sun GQ, Tang HY, Liu Y, Li M, Li QB, Cheng H, Gao M, Li P, Yang X, Zuo XB, Zheng XD, Wang PG, Wang J, Wang J, Liu JJ, Yang S, Li YR, Zhang XJ. Zhang X, et al. Among authors: yang s, yang x. J Med Genet. 2012 Dec;49(12):727-30. doi: 10.1136/jmedgenet-2012-101134. Epub 2012 Oct 25. J Med Genet. 2012. PMID: 23099647 Free PMC article.
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
Deng M, Wei L, Zuo X, Tian Y, Xie F, Hu P, Zhu C, Yu F, Meng Y, Wang H, Zhang F, Ma H, Ye R, Cheng H, Du J, Dong W, Zhou S, Wang C, Wang Y, Wang J, Chen X, Sun Z, Zhou N, Jiang Y, Liu X, Li X, Zhang N, Liu N, Guan Y, Han Y, Han Y, Lv X, Fu Y, Yu H, Xi C, Xie D, Zhao Q, Xie P, Wang X, Zhang Z, Shen L, Cui Y, Yin X, Cheng H, Liang B, Zheng X, Lee TM, Chen G, Zhou F, Veldink JH, Robberecht W, Landers JE, Andersen PM, Al-Chalabi A, Shaw C, Liu C, Tang B, Xiao S, Robertson J, Zhang F, van den Berg LH, Sun L, Liu J, Yang S, Ju X, Wang K, Zhang X. Deng M, et al. Among authors: yang s. Nat Genet. 2013 Jun;45(6):697-700. doi: 10.1038/ng.2627. Epub 2013 Apr 28. Nat Genet. 2013. PMID: 23624525
High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
Ellinghaus D, Baurecht H, Esparza-Gordillo J, Rodríguez E, Matanovic A, Marenholz I, Hübner N, Schaarschmidt H, Novak N, Michel S, Maintz L, Werfel T, Meyer-Hoffert U, Hotze M, Prokisch H, Heim K, Herder C, Hirota T, Tamari M, Kubo M, Takahashi A, Nakamura Y, Tsoi LC, Stuart P, Elder JT, Sun L, Zuo X, Yang S, Zhang X, Hoffmann P, Nöthen MM, Fölster-Holst R, Winkelmann J, Illig T, Boehm BO, Duerr RH, Büning C, Brand S, Glas J, McAleer MA, Fahy CM, Kabesch M, Brown S, McLean WH, Irvine AD, Schreiber S, Lee YA, Franke A, Weidinger S. Ellinghaus D, et al. Among authors: yang s. Nat Genet. 2013 Jul;45(7):808-12. doi: 10.1038/ng.2642. Epub 2013 Jun 2. Nat Genet. 2013. PMID: 23727859 Free PMC article.
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