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EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Elias MS, Wright SC, Remenyi J, Abbott JC, Bray SE, Cole C, Edwards S, Gierlinski M, Glok M, McGrath JA, Nicholson WV, Paternoster L, Prescott AR, Have ST, Whitfield PD, Lamond AI, Brown SJ. Elias MS, et al. Among authors: brown sj. J Allergy Clin Immunol. 2019 Aug;144(2):470-481. doi: 10.1016/j.jaci.2019.05.024. Epub 2019 May 31. J Allergy Clin Immunol. 2019. PMID: 31158401 Free PMC article.
Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy.
Brown SJ, Asai Y, Cordell HJ, Campbell LE, Zhao Y, Liao H, Northstone K, Henderson J, Alizadehfar R, Ben-Shoshan M, Morgan K, Roberts G, Masthoff LJ, Pasmans SG, van den Akker PC, Wijmenga C, Hourihane JO, Palmer CN, Lack G, Clarke A, Hull PR, Irvine AD, McLean WH. Brown SJ, et al. J Allergy Clin Immunol. 2011 Mar;127(3):661-7. doi: 10.1016/j.jaci.2011.01.031. J Allergy Clin Immunol. 2011. PMID: 21377035 Free PMC article.
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: brown sj. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.
Saunders SP, Goh CS, Brown SJ, Palmer CN, Porter RM, Cole C, Campbell LE, Gierlinski M, Barton GJ, Schneider G, Balmain A, Prescott AR, Weidinger S, Baurecht H, Kabesch M, Gieger C, Lee YA, Tavendale R, Mukhopadhyay S, Turner SW, Madhok VB, Sullivan FM, Relton C, Burn J, Meggitt S, Smith CH, Allen MA, Barker JN, Reynolds NJ, Cordell HJ, Irvine AD, McLean WH, Sandilands A, Fallon PG. Saunders SP, et al. Among authors: brown sj. J Allergy Clin Immunol. 2013 Nov;132(5):1121-9. doi: 10.1016/j.jaci.2013.08.046. Epub 2013 Sep 29. J Allergy Clin Immunol. 2013. PMID: 24084074 Free PMC article.
South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin.
Thawer-Esmail F, Jakasa I, Todd G, Wen Y, Brown SJ, Kroboth K, Campbell LE, O'Regan GM, McLean WH, Irvine AD, Kezic S, Sandilands A. Thawer-Esmail F, et al. Among authors: brown sj. J Allergy Clin Immunol. 2014 Jan;133(1):280-2.e1-2. doi: 10.1016/j.jaci.2013.09.053. J Allergy Clin Immunol. 2014. PMID: 24369804 Free PMC article. No abstract available.
817 results