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Page 1
A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.
Patel ZH, Lu X, Miller D, Forney CR, Lee J, Lynch A, Schroeder C, Parks L, Magnusen AF, Chen X, Pujato M, Maddox A, Zoller EE, Namjou B, Brunner HI, Henrickson M, Huggins JL, Williams AH, Ziegler JT, Comeau ME, Marion MC, Glenn SB, Adler A, Shen N, Nath SK, Stevens AM, Freedman BI, Pons-Estel BA, Tsao BP, Jacob CO, Kamen DL, Brown EE, Gilkeson GS, Alarcón GS, Martin J, Reveille JD, Anaya JM, James JA, Sivils KL, Criswell LA, Vilá LM, Petri M, Scofield RH, Kimberly RP, Edberg JC, Ramsey-Goldman R, Bang SY, Lee HS, Bae SC, Boackle SA, Cunninghame Graham D, Vyse TJ, Merrill JT, Niewold TB, Ainsworth HC, Silverman ED, Weisman MH, Wallace DJ, Raj P, Guthridge JM, Gaffney PM, Kelly JA, Alarcón-Riquelme ME, Langefeld CD, Wakeland EK, Kaufman KM, Weirauch MT, Harley JB, Kottyan LC. Patel ZH, et al. Hum Mol Genet. 2018 Jul 1;27(13):2392-2404. doi: 10.1093/hmg/ddy140. Hum Mol Genet. 2018. PMID: 29912393 Free PMC article. Clinical Trial.
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.
Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine.
Yang N, Li H, Criswell LA, Gregersen PK, Alarcon-Riquelme ME, Kittles R, Shigeta R, Silva G, Patel PI, Belmont JW, Seldin MF. Yang N, et al. Hum Genet. 2005 Dec;118(3-4):382-92. doi: 10.1007/s00439-005-0012-1. Epub 2005 Sep 29. Hum Genet. 2005. PMID: 16193326
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.
271 results