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Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis.
Peled A, Sarig O, Sun G, Samuelov L, Ma CA, Zhang Y, Dimaggio T, Nelson CG, Stone KD, Freeman AF, Malki L, Vidal LS, Chamarthy LM, Briskin V, Mohamad J, Pavlovsky M, Walter JE, Milner JD, Sprecher E. Peled A, et al. Among authors: sprecher e. J Allergy Clin Immunol. 2019 Jan;143(1):173-181.e10. doi: 10.1016/j.jaci.2018.09.002. Epub 2018 Sep 21. J Allergy Clin Immunol. 2019. PMID: 30248356 Clinical Trial.
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: sprecher e. 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
IGFBP7 as a potential therapeutic target in Psoriasis.
Nousbeck J, Ishida-Yamamoto A, Bidder M, Fuchs D, Eckl K, Hennies HC, Sagiv N, Gat A, Gini M, Filip I, Matz H, Goldberg I, Enk CD, Sarig O, Meilik B, Aberdam D, Gilhar A, Sprecher E. Nousbeck J, et al. Among authors: sprecher e. J Invest Dermatol. 2011 Aug;131(8):1767-70. doi: 10.1038/jid.2011.108. Epub 2011 May 12. J Invest Dermatol. 2011. PMID: 21562573 Free article. No abstract available.
Beneficial effect of acitretin in Chanarin-Dorfman syndrome.
Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E. Israeli S, et al. Among authors: sprecher e. Clin Exp Dermatol. 2012 Jan;37(1):31-3. doi: 10.1111/j.1365-2230.2011.04164.x. Epub 2011 Oct 10. Clin Exp Dermatol. 2012. PMID: 21981352
578 results