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CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E. Fuchs-Telem D, et al. Among authors: nousbeck j. Br J Dermatol. 2011 Mar;164(3):610-6. doi: 10.1111/j.1365-2133.2010.10133.x. Epub 2011 Feb 17. Br J Dermatol. 2011. PMID: 21073448
Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris.
Eytan O, Qiaoli L, Nousbeck J, van Steensel MA, Burger B, Hohl D, Taïeb A, Prey S, Bachmann D, Avitan-Hersh E, Jin Chung H, Shemer A, Trau H, Bergman R, Fuchs-Telem D, Warshauer E, Israeli S, Itin PH, Sarig O, Uitto J, Sprecher E. Eytan O, et al. Among authors: nousbeck j. Br J Dermatol. 2014 May;170(5):1196-8. doi: 10.1111/bjd.12799. Br J Dermatol. 2014. PMID: 24359224 No abstract available.
Familial pityriasis rubra pilaris is caused by mutations in CARD14.
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Fuchs-Telem D, et al. Among authors: nousbeck j. Am J Hum Genet. 2012 Jul 13;91(1):163-70. doi: 10.1016/j.ajhg.2012.05.010. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703878 Free PMC article.
A mutation in TP63 causing a mild ectodermal dysplasia phenotype.
Goldsmith T, Eytan O, Magal L, Solomon M, Israeli S, Warshauer E, Grafi-Cohen M, Aberdam D, van Bokhoven H, Zhou H, Sarig O, Sprecher E, Nousbeck J. Goldsmith T, et al. Among authors: nousbeck j. J Invest Dermatol. 2014 Aug;134(8):2277-2280. doi: 10.1038/jid.2014.159. Epub 2014 Mar 27. J Invest Dermatol. 2014. PMID: 24675753 Free article. No abstract available.
RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.
Warshauer E, Samuelov L, Sarig O, Vodo D, Bindereif A, Kanaan M, Gat U, Fuchs-Telem D, Shomron N, Farberov L, Pasmanik-Chor M, Nardini G, Winkler E, Meilik B, Petit I, Aberdam D, Paus R, Sprecher E, Nousbeck J. Warshauer E, et al. Among authors: nousbeck j. Exp Dermatol. 2015 Aug;24(8):618-22. doi: 10.1111/exd.12737. Epub 2015 May 26. Exp Dermatol. 2015. PMID: 25939713
25 results