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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: fleckman p. Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19. Nat Genet. 2006. PMID: 16550169
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: fleckman p. Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444271
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
Fallon PG, Sasaki T, Sandilands A, Campbell LE, Saunders SP, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A, Sundberg JP, Presland RB, Fleckman P, Shimizu N, Kudoh J, Irvine AD, Amagai M, McLean WH. Fallon PG, et al. Among authors: fleckman p. Nat Genet. 2009 May;41(5):602-8. doi: 10.1038/ng.358. Epub 2009 Apr 6. Nat Genet. 2009. PMID: 19349982 Free PMC article.
Clinical and pathological features of pachyonychia congenita.
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Leachman SA, et al. Among authors: fleckman p. J Investig Dermatol Symp Proc. 2005 Oct;10(1):3-17. doi: 10.1111/j.1087-0024.2005.10202.x. J Investig Dermatol Symp Proc. 2005. PMID: 16250204 Free article. Review.
Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.
Yang CS, Pomerantz H, Mannava KA, Corwin J, Weinstock MA, Fleckman P, DiGiovanna JJ, Robinson-Bostom L. Yang CS, et al. Among authors: fleckman p. J Am Acad Dermatol. 2016 May;74(5):1008-10.e2. doi: 10.1016/j.jaad.2015.12.027. J Am Acad Dermatol. 2016. PMID: 27085231 Free PMC article. No abstract available.
ABCA12 is the major harlequin ichthyosis gene.
Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. Thomas AC, et al. Among authors: fleckman p. J Invest Dermatol. 2006 Nov;126(11):2408-13. doi: 10.1038/sj.jid.5700455. Epub 2006 Aug 10. J Invest Dermatol. 2006. PMID: 16902423 Free article.
121 results