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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: zhang j. 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.
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: zhang t, zhang j. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798626
FBN3 gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome.
Wang Y, Garraoui A, Zeng L, Lai M, He F, Wang H, Jiang C, Chen Y, Dai L, Fan N, Yang H, Zhang J, Liu X. Wang Y, et al. Among authors: zhang j. Oncotarget. 2017 Sep 30;8(49):86718-86725. doi: 10.18632/oncotarget.21415. eCollection 2017 Oct 17. Oncotarget. 2017. PMID: 29156830 Free PMC article.
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ, Guo Y, Zhang J, Riley LG, Cooper ST, Thorburn DR, Li J, Dong D, Li Z, Glessner J, Davis RL, Sue CM, Alexander SI, Arbuckle S, Kirwan P, Keating BJ, Xu X, Hakonarson H, Christodoulou J. Menezes MJ, et al. Among authors: zhang j. Hum Mol Genet. 2015 Apr 15;24(8):2297-307. doi: 10.1093/hmg/ddu747. Epub 2015 Jan 2. Hum Mol Genet. 2015. PMID: 25556185
165,454 results
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