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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Palmer CN, et al. Among authors: mclean wh. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Weidinger S, et al. Among authors: mclean wh. J Allergy Clin Immunol. 2006 Jul;118(1):214-9. doi: 10.1016/j.jaci.2006.05.004. Epub 2006 Jun 9. J Allergy Clin Immunol. 2006. PMID: 16815158
Filaggrin null alleles are not associated with psoriasis.
Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR, Campbell LE, Trembath RC, Capon F, Griffiths CE, Burden D, McManus R, Hughes R, Kirby B, Rogers SF, Fitzgerald O, Kane D, Barker JN, Palmer CN, Irvine AD, McLean WH. Zhao Y, et al. Among authors: mclean wh. J Invest Dermatol. 2007 Aug;127(8):1878-82. doi: 10.1038/sj.jid.5700817. Epub 2007 Apr 5. J Invest Dermatol. 2007. PMID: 17410197 Free article.
Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema.
Brown SJ, Sandilands A, Zhao Y, Liao H, Relton CL, Meggitt SJ, Trembath RC, Barker JN, Reynolds NJ, Cordell HJ, McLean WH. Brown SJ, et al. Among authors: mclean wh. J Invest Dermatol. 2008 Jun;128(6):1591-4. doi: 10.1038/sj.jid.5701206. Epub 2007 Dec 20. J Invest Dermatol. 2008. PMID: 18094728 Free article. No abstract available.
296 results