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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: watson rm. Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8. Nat Genet. 2007. PMID: 17417636
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: watson rm. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency.
Kezic S, O'Regan GM, Lutter R, Jakasa I, Koster ES, Saunders S, Caspers P, Kemperman PM, Puppels GJ, Sandilands A, Chen H, Campbell LE, Kroboth K, Watson R, Fallon PG, McLean WH, Irvine AD. Kezic S, et al. J Allergy Clin Immunol. 2012 Apr;129(4):1031-9.e1. doi: 10.1016/j.jaci.2011.12.989. Epub 2012 Feb 8. J Allergy Clin Immunol. 2012. PMID: 22322004 Free PMC article.
Analysis of the individual and aggregate genetic contributions of previously identified serine peptidase inhibitor Kazal type 5 (SPINK5), kallikrein-related peptidase 7 (KLK7), and filaggrin (FLG) polymorphisms to eczema risk.
Weidinger S, Baurecht H, Wagenpfeil S, Henderson J, Novak N, Sandilands A, Chen H, Rodriguez E, O'Regan GM, Watson R, Liao H, Zhao Y, Barker JN, Allen M, Reynolds N, Meggitt S, Northstone K, Smith GD, Strobl C, Stahl C, Kneib T, Klopp N, Bieber T, Behrendt H, Palmer CN, Wichmann HE, Ring J, Illig T, McLean WH, Irvine AD. Weidinger S, et al. J Allergy Clin Immunol. 2008 Sep;122(3):560-8.e4. doi: 10.1016/j.jaci.2008.05.050. J Allergy Clin Immunol. 2008. PMID: 18774391
Congenital reticular ichthyosiform erythroderma.
Dvorakova V, Watson RM, Terron-Kwiatkowski A, Andrew N, Irvine AD. Dvorakova V, et al. Among authors: watson rm. Clin Exp Dermatol. 2016 Jul;41(5):576-7. doi: 10.1111/ced.12795. Epub 2016 Jan 23. Clin Exp Dermatol. 2016. PMID: 26801004 No abstract available.
224 results