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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
Innate immunity to intraphagosomal pathogens is mediated by interferon regulatory factor 8 (IRF-8) that stimulates the expression of macrophage-specific Nramp1 through antagonizing repression by c-Myc.
Alter-Koltunoff M, Goren S, Nousbeck J, Feng CG, Sher A, Ozato K, Azriel A, Levi BZ. Alter-Koltunoff M, et al. Among authors: nousbeck j. J Biol Chem. 2008 Feb 1;283(5):2724-33. doi: 10.1074/jbc.M707704200. Epub 2007 Nov 28. J Biol Chem. 2008. PMID: 18045875 Free article.
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
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