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Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster L, Standl M, Waage J, Baurecht H, Hotze M, Strachan DP, Curtin JA, Bønnelykke K, Tian C, Takahashi A, Esparza-Gordillo J, Alves AC, Thyssen JP, den Dekker HT, Ferreira MA, Altmaier E, Sleiman PM, Xiao FL, Gonzalez JR, Marenholz I, Kalb B, Yanes MP, Xu CJ, Carstensen L, Groen-Blokhuis MM, Venturini C, Pennell CE, Barton SJ, Levin AM, Curjuric I, Bustamante M, Kreiner-Møller E, Lockett GA, Bacelis J, Bunyavanich S, Myers RA, Matanovic A, Kumar A, Tung JY, Hirota T, Kubo M, McArdle WL, Henderson AJ, Kemp JP, Zheng J, Smith GD, Rüschendorf F, Bauerfeind A, Lee-Kirsch MA, Arnold A, Homuth G, Schmidt CO, Mangold E, Cichon S, Keil T, Rodríguez E, Peters A, Franke A, Lieb W, Novak N, Fölster-Holst R, Horikoshi M, Pekkanen J, Sebert S, Husemoen LL, Grarup N, de Jongste JC, Rivadeneira F, Hofman A, Jaddoe VW, Pasmans SG, Elbert NJ, Uitterlinden AG, Marks GB, Thompson PJ, Matheson MC, Robertson CF; Australian Asthma Genetics Consortium (AAGC); Ried JS, Li J, Zuo XB, Zheng XD, Yin XY, Sun LD, McAleer MA, O'Regan GM, Fahy CM, Campbell LE, Macek M, Kurek M, Hu D, Eng C, Postma DS, Feenstra B, Geller F, Hottenga JJ, Middeldorp CM, Hysi P, Bataille V, Spector T, Tiesler CM, Thiering E… See abstract for full author list ➔ Paternoster L, et al. Nat Genet. 2015 Dec;47(12):1449-1456. doi: 10.1038/ng.3424. Epub 2015 Oct 19. Nat Genet. 2015. PMID: 26482879 Free PMC article.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C. Kapp FG, et al. Among authors: lee kirsch ma. Clin Immunol. 2023 Nov;256:109777. doi: 10.1016/j.clim.2023.109777. Epub 2023 Sep 22. Clin Immunol. 2023. PMID: 37741518
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch MA, Gong M, Chowdhury D, Senenko L, Engel K, Lee YA, de Silva U, Bailey SL, Witte T, Vyse TJ, Kere J, Pfeiffer C, Harvey S, Wong A, Koskenmies S, Hummel O, Rohde K, Schmidt RE, Dominiczak AF, Gahr M, Hollis T, Perrino FW, Lieberman J, Hübner N. Lee-Kirsch MA, et al. Nat Genet. 2007 Sep;39(9):1065-7. doi: 10.1038/ng2091. Epub 2007 Jul 29. Nat Genet. 2007. PMID: 17660818
A common variant on chromosome 11q13 is associated with atopic dermatitis.
Esparza-Gordillo J, Weidinger S, Fölster-Holst R, Bauerfeind A, Ruschendorf F, Patone G, Rohde K, Marenholz I, Schulz F, Kerscher T, Hubner N, Wahn U, Schreiber S, Franke A, Vogler R, Heath S, Baurecht H, Novak N, Rodriguez E, Illig T, Lee-Kirsch MA, Ciechanowicz A, Kurek M, Piskackova T, Macek M, Lee YA, Ruether A. Esparza-Gordillo J, et al. Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6. Nat Genet. 2009. PMID: 19349984
A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
Esparza-Gordillo J, Schaarschmidt H, Liang L, Cookson W, Bauerfeind A, Lee-Kirsch MA, Nemat K, Henderson J, Paternoster L, Harper JI, Mangold E, Nothen MM, Rüschendorf F, Kerscher T, Marenholz I, Matanovic A, Lau S, Keil T, Bauer CP, Kurek M, Ciechanowicz A, Macek M, Franke A, Kabesch M, Hubner N, Abecasis G, Weidinger S, Moffatt M, Lee YA. Esparza-Gordillo J, et al. J Allergy Clin Immunol. 2013 Aug;132(2):371-7. doi: 10.1016/j.jaci.2013.01.057. Epub 2013 Apr 9. J Allergy Clin Immunol. 2013. PMID: 23582566
Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo J, Matanovic A, Marenholz I, Bauerfeind A, Rohde K, Nemat K, Lee-Kirsch MA, Nordenskjöld M, Winge MC, Keil T, Krüger R, Lau S, Beyer K, Kalb B, Niggemann B, Hübner N, Cordell HJ, Bradley M, Lee YA. Esparza-Gordillo J, et al. PLoS Genet. 2015 Mar 10;11(3):e1005076. doi: 10.1371/journal.pgen.1005076. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25757221 Free PMC article.
102 results