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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, et al. A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts. Eur J Hum Genet. 2019;27(3):432-441. doi:10.1038/s41431-018-0297-xGoogle ScholarPubMedDOI
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Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial.
Davenport EE, Amariuta T, Gutierrez-Arcelus M, et al. Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial. Genome Biol. 2018;19(1):168. doi:10.1186/s13059-018-1560-8Google ScholarPubMedDOI
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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Graham RR, Cotsapas C, Davies L, et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008;40(9):1059-61. doi:10.1038/ng.200Google ScholarPubMedDOI
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Autoimmune diseases: insights from genome-wide association studies.
Lettre G, Rioux JD. Autoimmune diseases: insights from genome-wide association studies. Hum Mol Genet. 2008;17(R2):R116-21. doi:10.1093/hmg/ddn246Google ScholarPubMedDOI
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Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Graham RR, Kyogoku C, Sigurdsson S, et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A. 2007;104(16):6758-63. doi:10.1073/pnas.0701266104Google ScholarPubMedDOI
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A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
Graham RR, Kozyrev SV, Baechler EC, et al. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet. 2006;38(5):550-5. doi:10.1038/ng1782Google ScholarPubMedDOI
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Editorial: entering the age of whole-exome sequencing in rheumatic diseases: novel insights into disease pathogenicity.
Okada Y, Plenge RM. Editorial: entering the age of whole-exome sequencing in rheumatic diseases: novel insights into disease pathogenicity. Arthritis Rheum. 2013;65(8):1975-9. doi:10.1002/art.38011Google ScholarPubMedDOI
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Time for new schizophrenia Rx.
Hyman SE. Time for new schizophrenia Rx. Science. 2014;343(6176):1177. doi:10.1126/science.1252603Google ScholarPubMedDOI
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The HLA-DRβ1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations.
Kim K, Bang SY, Lee HS, et al. The HLA-DRβ1 amino acid positions 11-13-26 explain the majority of SLE-MHC associations. Nat Commun. 2014;5:5902. doi:10.1038/ncomms6902Google ScholarPubMedDOI
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The receptor TREML4 amplifies TLR7-mediated signaling during antiviral responses and autoimmunity.
Ramirez-Ortiz ZG, Prasad A, Griffith JW, et al. The receptor TREML4 amplifies TLR7-mediated signaling during antiviral responses and autoimmunity. Nat Immunol. 2015;16(5):495-504. doi:10.1038/ni.3143Google ScholarPubMedDOI
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