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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. Among authors: baechler ec. 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 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. Among authors: baechler ec. Nat Genet. 2006 May;38(5):550-5. doi: 10.1038/ng1782. Epub 2006 Apr 16. Nat Genet. 2006. PMID: 16642019
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN); Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Langefeld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, Ojwang JO, James JA, Merrill JT, Gilkeson GS, Seldin MF, Yin H, Baechler EC, Li QZ, Wakeland EK, Bruner GR, Kaufman KM, Kelly JA. International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), et al. Among authors: baechler ec. Nat Genet. 2008 Feb;40(2):204-10. doi: 10.1038/ng.81. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204446 Free PMC article.
Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus.
Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, Green LE, Nair RP, Stuart PE, Elder JT, King RA, Moser KL, Gaffney PM, Bugawan TL, Erlich HA, Rich SS, Gregersen PK, Behrens TW. Graham RR, et al. Among authors: baechler ec. Am J Hum Genet. 2002 Sep;71(3):543-53. doi: 10.1086/342290. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145745 Free PMC article.
Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus.
Behrens TW, Graham RR, Kyogoku C, Baechler EC, Ramos PS, Gillett C, Bauer J, Ortmann WA, Hippen KL, Peterson E, Langefeld CD, Moser KL, Gaffney PM, Gregersen PK. Behrens TW, et al. Among authors: baechler ec. Novartis Found Symp. 2005;267:145-60; discussion 160-4. doi: 10.1002/047002139x.ch10. Novartis Found Symp. 2005. PMID: 15999805
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Rönnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvänen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D. Graham RR, et al. Among authors: baechler ec. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6758-63. doi: 10.1073/pnas.0701266104. Epub 2007 Apr 5. Proc Natl Acad Sci U S A. 2007. PMID: 17412832 Free PMC article.
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Kyogoku C, et al. Among authors: baechler ec. Am J Hum Genet. 2004 Sep;75(3):504-7. doi: 10.1086/423790. Epub 2004 Jul 23. Am J Hum Genet. 2004. PMID: 15273934 Free PMC article.
41 results