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Page 1
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: padalon brauch g. Nat Genet. 2016 Dec;48(12):1508-1516. doi: 10.1038/ng.3701. Epub 2016 Oct 31. Nat Genet. 2016. PMID: 27798626
Semidominant inheritance in epidermolytic ichthyosis.
Nousbeck J, Padalon-Brauch G, Fuchs-Telem D, Israeli S, Sarig O, Sheffer R, Sprecher E. Nousbeck J, et al. Among authors: padalon brauch g. J Invest Dermatol. 2013 Nov;133(11):2626-2628. doi: 10.1038/jid.2013.193. Epub 2013 Apr 19. J Invest Dermatol. 2013. PMID: 23604102 Free article. No abstract available.
Digenic inheritance in epidermolysis bullosa simplex.
Padalon-Brauch G, Ben Amitai D, Vodo D, Harel A, Sarig O, Sprecher E, Mashiah J. Padalon-Brauch G, et al. J Invest Dermatol. 2012 Dec;132(12):2852-4. doi: 10.1038/jid.2012.229. Epub 2012 Jul 26. J Invest Dermatol. 2012. PMID: 22832485 Free article. No abstract available.
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation.
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E. Sarig O, et al. Among authors: padalon brauch g. Am J Hum Genet. 2012 Aug 10;91(2):337-42. doi: 10.1016/j.ajhg.2012.06.003. Epub 2012 Jul 26. Am J Hum Genet. 2012. PMID: 22840363 Free PMC article.