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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Smith FJ, et al. Among authors: zhao y. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444271
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: zhao y. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
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. 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.
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Sandilands A, et al. Among authors: zhao y. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636
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: zhao y. 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.
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