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Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease.
Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, Barbosa IA, August S, Burden AD, Choon SE, Cooper H, Navarini AA, Reynolds NJ, Wahie S, Warren RB, Wright A; APRICOT and PLUM study team; Huffmeier U, Baum P, Visvanathan S, Barker JN, Smith CH, Capon F. Vergnano M, et al. Among authors: burden ad. Am J Hum Genet. 2021 Apr 1;108(4):757. doi: 10.1016/j.ajhg.2021.03.001. Am J Hum Genet. 2021. PMID: 33798446 Free PMC article. No abstract available.
Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene.
Capon F, Bijlmakers MJ, Wolf N, Quaranta M, Huffmeier U, Allen M, Timms K, Abkevich V, Gutin A, Smith R, Warren RB, Young HS, Worthington J, Burden AD, Griffiths CE, Hayday A, Nestle FO, Reis A, Lanchbury J, Barker JN, Trembath RC. Capon F, et al. Among authors: burden ad. Hum Mol Genet. 2008 Jul 1;17(13):1938-45. doi: 10.1093/hmg/ddn091. Epub 2008 Mar 25. Hum Mol Genet. 2008. PMID: 18364390 Free PMC article.
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.
Onoufriadis A, Simpson MA, Pink AE, Di Meglio P, Smith CH, Pullabhatla V, Knight J, Spain SL, Nestle FO, Burden AD, Capon F, Trembath RC, Barker JN. Onoufriadis A, et al. Among authors: burden ad. Am J Hum Genet. 2011 Sep 9;89(3):432-7. doi: 10.1016/j.ajhg.2011.07.022. Epub 2011 Aug 11. Am J Hum Genet. 2011. PMID: 21839423 Free PMC article.
Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis.
Knight J, Spain SL, Capon F, Hayday A, Nestle FO, Clop A; Wellcome Trust Case Control Consortium; Genetic Analysis of Psoriasis Consortium; I-chip for Psoriasis Consortium; Barker JN, Weale ME, Trembath RC. Knight J, et al. Hum Mol Genet. 2012 Dec 1;21(23):5185-92. doi: 10.1093/hmg/dds344. Epub 2012 Aug 21. Hum Mol Genet. 2012. PMID: 22914738 Free PMC article.
160 results