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266 results

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A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.
Farias FHG, Dahlqvist J, Kozyrev SV, Leonard D, Wilbe M, Abramov SN, Alexsson A, Pielberg GR, Hansson-Hamlin H, Andersson G, Tandre K, Bengtsson AA, Sjöwall C, Svenungsson E, Gunnarsson I, Rantapää-Dahlqvist S, Syvänen AC, Sandling JK, Eloranta ML, Rönnblom L, Lindblad-Toh K. Farias FHG, et al. Eur J Hum Genet. 2019 Mar;27(3):432-441. doi: 10.1038/s41431-018-0297-x. Epub 2018 Nov 20. Eur J Hum Genet. 2019. PMID: 30459414 Free PMC article.
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
Sigurdsson S, Nordmark G, Göring HH, Lindroos K, Wiman AC, Sturfelt G, Jönsen A, Rantapää-Dahlqvist S, Möller B, Kere J, Koskenmies S, Widén E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Rönnblom L, Syvänen AC. Sigurdsson S, et al. Am J Hum Genet. 2005 Mar;76(3):528-37. doi: 10.1086/428480. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657875 Free PMC article.
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S, Lee AT, Chung SA, Ferreira RC, Pant PV, Ballinger DG, Kosoy R, Demirci FY, Kamboh MI, Kao AH, Tian C, Gunnarsson I, Bengtsson AA, Rantapää-Dahlqvist S, Petri M, Manzi S, Seldin MF, Rönnblom L, Syvänen AC, Criswell LA, Gregersen PK, Behrens TW. Hom G, et al. N Engl J Med. 2008 Feb 28;358(9):900-9. doi: 10.1056/NEJMoa0707865. Epub 2008 Jan 20. N Engl J Med. 2008. PMID: 18204098 Free article.
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen AC, Rönnblom L. Sigurdsson S, et al. Hum Mol Genet. 2008 Sep 15;17(18):2868-76. doi: 10.1093/hmg/ddn184. Epub 2008 Jun 25. Hum Mol Genet. 2008. PMID: 18579578 Free PMC article.
A STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosus.
Svenungsson E, Gustafsson J, Leonard D, Sandling J, Gunnarsson I, Nordmark G, Jönsen A, Bengtsson AA, Sturfelt G, Rantapää-Dahlqvist S, Elvin K, Sundin U, Garnier S, Simard JF, Sigurdsson S, Padyukov L, Syvänen AC, Rönnblom L. Svenungsson E, et al. Ann Rheum Dis. 2010 May;69(5):834-40. doi: 10.1136/ard.2009.115535. Epub 2009 Sep 17. Ann Rheum Dis. 2010. PMID: 19762360
A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
Gateva V, Sandling JK, Hom G, Taylor KE, Chung SA, Sun X, Ortmann W, Kosoy R, Ferreira RC, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Rantapää-Dahlqvist S, Baechler EC, Brown EE, Alarcón GS, Edberg JC, Ramsey-Goldman R, McGwin G Jr, Reveille JD, Vilá LM, Kimberly RP, Manzi S, Petri MA, Lee A, Gregersen PK, Seldin MF, Rönnblom L, Criswell LA, Syvänen AC, Behrens TW, Graham RR. Gateva V, et al. Nat Genet. 2009 Nov;41(11):1228-33. doi: 10.1038/ng.468. Epub 2009 Oct 18. Nat Genet. 2009. PMID: 19838195 Free PMC article.
A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
Sandling JK, Garnier S, Sigurdsson S, Wang C, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Mälarstig A, Strawbridge RJ, Hamsten A, Criswell LA, Graham RR, Behrens TW, Eloranta ML, Alm G, Rönnblom L, Syvänen AC. Sandling JK, et al. Eur J Hum Genet. 2011 Apr;19(4):479-84. doi: 10.1038/ejhg.2010.197. Epub 2010 Dec 22. Eur J Hum Genet. 2011. PMID: 21179067 Free PMC article.
Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations.
Wang C, Ahlford A, Järvinen TM, Nordmark G, Eloranta ML, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Sjöwall C, Julkunen H, Criswell LA, Graham RR, Behrens TW, Kere J, Rönnblom L, Syvänen AC, Sandling JK. Wang C, et al. Eur J Hum Genet. 2013 Sep;21(9):994-9. doi: 10.1038/ejhg.2012.277. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249952 Free PMC article.
266 results