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Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z, Li S, Feng C, Yang S, Wang H, Ma D, Zhang J, Gou M, Bu D, Zhang T, Kong X, Wang X, Sarig O, Ren Y, Dai L, Liu H, Zhang J, Li F, Hu Y, Padalon-Brauch G, Vodo D, Zhou F, Chen T, Deng H, Sprecher E, Yang Y, Tan X. Lin Z, et al. Among authors: ren y. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798626
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.
Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Lin Z, et al. Among authors: ren y. Am J Hum Genet. 2015 Mar 5;96(3):440-7. doi: 10.1016/j.ajhg.2014.12.026. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683118 Free PMC article.
ADTKD-UMOD in a girl with a de novo mutation: A case report.
Li MS, Li Y, Jiang L, Song ZR, Yu XJ, Wang H, Ren YL, Wang SX, Zhou XJ, Yang L, Zhang H. Li MS, et al. Among authors: ren yl. Front Med (Lausanne). 2022 Dec 20;9:1077655. doi: 10.3389/fmed.2022.1077655. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36606057 Free PMC article.
[Clinicopathologic characteristics of light chain proximal tubulopathy].
Zhang X, Niu K, Xu J, Cheng M, Wang H, Ren YL, Chai LJ, Wang SX. Zhang X, et al. Among authors: ren yl. Zhonghua Bing Li Xue Za Zhi. 2017 Jun 8;46(6):411-412. doi: 10.3760/cma.j.issn.0529-5807.2017.06.009. Zhonghua Bing Li Xue Za Zhi. 2017. PMID: 28591989 Chinese. No abstract available.
13,115 results
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