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Page 1
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Grosche S, Marenholz I, Esparza-Gordillo J, Arnau-Soler A, Pairo-Castineira E, Rüschendorf F, Ahluwalia TS, Almqvist C, Arnold A; Australian Asthma Genetics Consortium (AAGC); Baurecht H, Bisgaard H, Bønnelykke K, Brown SJ, Bustamante M, Curtin JA, Custovic A, Dharmage SC, Esplugues A, Falchi M, Fernandez-Orth D, Ferreira MAR, Franke A, Gerdes S, Gieger C, Hakonarson H, Holt PG, Homuth G, Hubner N, Hysi PG, Jarvelin MR, Karlsson R, Koppelman GH, Lau S, Lutz M, Magnusson PKE, Marks GB, Müller-Nurasyid M, Nöthen MM, Paternoster L, Pennell CE, Peters A, Rawlik K, Robertson CF, Rodriguez E, Sebert S, Simpson A, Sleiman PMA, Standl M, Stölzl D, Strauch K, Szwajda A, Tenesa A, Thompson PJ, Ullemar V, Visconti A, Vonk JM, Wang CA, Weidinger S, Wielscher M, Worth CL, Xu CJ, Lee YA. Grosche S, et al. Among authors: baurecht h. Nat Commun. 2021 Nov 16;12(1):6618. doi: 10.1038/s41467-021-26783-x. Nat Commun. 2021. PMID: 34785669 Free PMC article.
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Weidinger S, et al. Among authors: baurecht h. J Allergy Clin Immunol. 2006 Jul;118(1):214-9. doi: 10.1016/j.jaci.2006.05.004. Epub 2006 Jun 9. J Allergy Clin Immunol. 2006. PMID: 16815158
Filaggrin mutations, atopic eczema, hay fever, and asthma in children.
Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WH, von Mutius E, Irvine AD, Kabesch M. Weidinger S, et al. Among authors: baurecht h. J Allergy Clin Immunol. 2008 May;121(5):1203-1209.e1. doi: 10.1016/j.jaci.2008.02.014. Epub 2008 Apr 8. J Allergy Clin Immunol. 2008. PMID: 18396323
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. Among authors: baurecht h. Nat Genet. 2009 May;41(5):596-601. doi: 10.1038/ng.347. Epub 2009 Apr 6. Nat Genet. 2009. PMID: 19349984
A comprehensive analysis of the COL29A1 gene does not support a role in eczema.
Naumann A, Söderhäll C, Fölster-Holst R, Baurecht H, Harde V, Müller-Wehling K, Rodríguez E, Ruether A, Franke A, Wagenpfeil S, Novak N, Mempel M, Kalali BN, Allgaeuer M, Koch J, Gerhard M, Melén E, Wahlgren CF, Kull I, Stahl C, Pershagen G, Lauener R, Riedler J, Doekes G, Scheynius A, Illig T, von Mutius E, Schreiber S, Kere J, Kabesch M, Weidinger S. Naumann A, et al. Among authors: baurecht h. J Allergy Clin Immunol. 2011 May;127(5):1187-94.e7. doi: 10.1016/j.jaci.2010.12.1123. Epub 2011 Feb 25. J Allergy Clin Immunol. 2011. PMID: 21353297
145 results