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Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
Bentham J, Morris DL, Graham DSC, Pinder CL, Tombleson P, Behrens TW, Martín J, Fairfax BP, Knight JC, Chen L, Replogle J, Syvänen AC, Rönnblom L, Graham RR, Wither JE, Rioux JD, Alarcón-Riquelme ME, Vyse TJ. Bentham J, et al. Nat Genet. 2015 Dec;47(12):1457-1464. doi: 10.1038/ng.3434. Epub 2015 Oct 26. Nat Genet. 2015. PMID: 26502338 Free PMC article.
A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31.
Johanneson B, Lima G, von Salomé J, Alarcón-Segovia D, Alarcón-Riquelme ME; Collaborative Group on the Genetics of SLE, The BIOMED II Collaboration on the Genetics of SLE and Sjögrens syndrome. Johanneson B, et al. Am J Hum Genet. 2002 Nov;71(5):1060-71. doi: 10.1086/344289. Epub 2002 Oct 8. Am J Hum Genet. 2002. PMID: 12373647 Free PMC article.
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans.
Prokunina L, Castillejo-López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, Brookes AJ, Tentler D, Kristjansdóttir H, Gröndal G, Bolstad AI, Svenungsson E, Lundberg I, Sturfelt G, Jönssen A, Truedsson L, Lima G, Alcocer-Varela J, Jonsson R, Gyllensten UB, Harley JB, Alarcón-Segovia D, Steinsson K, Alarcón-Riquelme ME. Prokunina L, et al. Nat Genet. 2002 Dec;32(4):666-9. doi: 10.1038/ng1020. Epub 2002 Oct 28. Nat Genet. 2002. PMID: 12402038
Chromosome 17p12-q11 harbors susceptibility loci for systemic lupus erythematosus.
Johansson CM, Zunec R, García MA, Scherbarth HR, Tate GA, Paira S, Navarro SM, Perandones CE, Gamron S, Alvarellos A, Graf CE, Manni J, Berbotto GA, Palatnik SA, Catoggio LJ, Battagliotti CG, Sebastiani GD, Migliaresi S, Galeazzi M, Pons-Estel BA, Alarcón-Riquelme ME; Collaborative Group on the Genetics of SLE; Argentine Collaborative Group. Johansson CM, et al. Hum Genet. 2004 Aug;115(3):230-8. doi: 10.1007/s00439-004-1145-3. Epub 2004 Jul 1. Hum Genet. 2004. PMID: 15232734
Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort.
Alarcón-Segovia D, Alarcón-Riquelme ME, Cardiel MH, Caeiro F, Massardo L, Villa AR, Pons-Estel BA; Grupo Latinoamericano de Estudio del Lupus Eritematoso (GLADEL). Alarcón-Segovia D, et al. Arthritis Rheum. 2005 Apr;52(4):1138-47. doi: 10.1002/art.20999. Arthritis Rheum. 2005. PMID: 15818688 Free article.
The genetics of systemic lupus erythematosus.
Alarcón-Riquelme ME. Alarcón-Riquelme ME. J Autoimmun. 2005;25 Suppl:46-8. doi: 10.1016/j.jaut.2005.09.012. Epub 2005 Oct 21. J Autoimmun. 2005. PMID: 16243486 Review.
Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus.
Orozco G, Sánchez E, Gómez LM, González-Gay MA, López-Nevot MA, Torres B, Ortego-Centeno N, Jiménez-Alonso J, de Ramón E, Sánchez Román J, Anaya JM, Sturfelt G, Gunnarsson I, Svennungsson E, Alarcón-Riquelme M, González-Escribano MF, Martín J. Orozco G, et al. Ann Rheum Dis. 2006 Jun;65(6):791-5. doi: 10.1136/ard.2005.044891. Epub 2005 Oct 25. Ann Rheum Dis. 2006. PMID: 16249223 Free PMC article.
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, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF; Argentine and Spanish Collaborative Groups; Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-Riquelme ME. Graham RR, et al. Nat Genet. 2006 May;38(5):550-5. doi: 10.1038/ng1782. Epub 2006 Apr 16. Nat Genet. 2006. PMID: 16642019
Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
Rueda B, Reddy MV, González-Gay MA, Balsa A, Pascual-Salcedo D, Petersson IF, Eimon A, Paira S, Scherbarth HR, Pons-Estel BA, González-Escribano MF, Alarcón-Riquelme ME, Martín J. Rueda B, et al. Arthritis Rheum. 2006 Dec;54(12):3815-9. doi: 10.1002/art.22271. Arthritis Rheum. 2006. PMID: 17133578 Free article.
Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.
Kozyrev SV, Lewén S, Reddy PM, Pons-Estel B; Argentine Collaborative Group; Witte T; German Collaborative Group; Junker P, Laustrup H, Gutiérrez C, Suárez A, Francisca González-Escribano M, Martín J; Spanish Collaborative Group; Alarcón-Riquelme ME. Kozyrev SV, et al. Arthritis Rheum. 2007 Apr;56(4):1234-41. doi: 10.1002/art.22497. Arthritis Rheum. 2007. PMID: 17393452 Free article.
271 results