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Page 1
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: huffmeier u. Am J Hum Genet. 2020 Sep 3;107(3):539-543. doi: 10.1016/j.ajhg.2020.06.020. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758448 Free PMC article.
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: huffmeier u. 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.
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2; Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X, Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, Hüffmeier U, Hunt SE, Irvine AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L, Markus HS, Mathew CG, McLean WH, McManus R, Mössner R, Moutsianas L, Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C, Pirinen M, Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, Ståhle M, Su Z, Tazi-Ahnini R, Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N, Worthington J, Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC. Genetic Analysis of Psoriasis Consortium & the Wellcome Trust Case Control Consortium 2, et al. Among authors: huffmeier u. Nat Genet. 2010 Nov;42(11):985-90. doi: 10.1038/ng.694. Epub 2010 Oct 17. Nat Genet. 2010. PMID: 20953190 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.
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Dand N, Mucha S, Tsoi LC, Mahil SK, Stuart PE, Arnold A, Baurecht H, Burden AD, Callis Duffin K, Chandran V, Curtis CJ, Das S, Ellinghaus D, Ellinghaus E, Enerback C, Esko T, Gladman DD, Griffiths CEM, Gudjonsson JE, Hoffman P, Homuth G, Hüffmeier U, Krueger GG, Laudes M, Lee SH, Lieb W, Lim HW, Löhr S, Mrowietz U, Müller-Nurayid M, Nöthen M, Peters A, Rahman P, Reis A, Reynolds NJ, Rodriguez E, Schmidt CO, Spain SL, Strauch K, Tejasvi T, Voorhees JJ, Warren RB, Weichenthal M, Weidinger S, Zawistowski M, Nair RP, Capon F, Smith CH, Trembath RC, Abecasis GR, Elder JT, Franke A, Simpson MA, Barker JN. Dand N, et al. Among authors: huffmeier u. Hum Mol Genet. 2017 Nov 1;26(21):4301-4313. doi: 10.1093/hmg/ddx328. Hum Mol Genet. 2017. PMID: 28973304 Free PMC article.
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, Schauer C, Ringer M, Flamann C, Frey B, Lesner A, Thiel CT, Ekici AB, von Hörsten S, Aßmann G, Riepe C, Euler M, Schäkel K, Philipp S, Prinz JC, Mößner R, Kersting F, Sticherling M, Sefiani A, Lyahyai J, Sondermann W, Oji V, Schulz P, Wilsmann-Theis D, Sticht H, Schett G, Reis A, Uebe S, Frey S, Hüffmeier U. Haskamp S, et al. Among authors: huffmeier u. Am J Hum Genet. 2020 Sep 3;107(3):527-538. doi: 10.1016/j.ajhg.2020.07.001. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758447 Free PMC article.
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: huffmeier u. 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.
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N, Stuart PE, Bowes J, Ellinghaus D, Nititham J, Saklatvala JR, Teder-Laving M, Thomas LF, Traks T, Uebe S, Assmann G, Baudry D, Behrens F, Billi AC, Brown MA, Burkhardt H, Capon F, Chung R, Curtis CJ, Duckworth M, Ellinghaus E, FitzGerald O, Gerdes S, Griffiths CEM, Gulliver S, Helliwell P, Ho P, Hoffmann P, Holmen OL, Huang ZM, Hveem K, Jadon D, Köhm M, Kraus C, Lamacchia C, Lee SH, Ma F, Mahil SK, McHugh N, McManus R, Modalsli EH, Nissen MJ, Nöthen M, Oji V, Oksenberg JR, Patrick MT, Perez-White BE, Ramming A, Rech J, Rosen C, Sarkar MK, Schett G, Schmidt B, Tejasvi T, Traupe H, Voorhees JJ, Wacker EM, Warren RB, Wasikowski R, Weidinger S, Wen X, Zhang Z; BSTOP study group; Estonian Biobank research team; Barton A, Chandran V, Esko T, Foerster J, Franke A, Gladman DD, Gudjonsson JE, Gulliver W, Hüffmeier U, Kingo K, Kõks S, Liao W, Løset M, Mägi R, Nair RP, Rahman P, Reis A, Smith CH, Di Meglio P, Barker JN, Tsoi LC, Simpson MA, Elder JT. Dand N, et al. Among authors: huffmeier u. medRxiv [Preprint]. 2023 Oct 5:2023.10.04.23296543. doi: 10.1101/2023.10.04.23296543. medRxiv. 2023. PMID: 37873414 Free PMC article. Preprint.
81 results