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Page 1
Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
Deng Y, Zhao J, Sakurai D, Sestak AL, Osadchiy V, Langefeld CD, Kaufman KM, Kelly JA, James JA, Petri MA, Bae SC, Alarcón-Riquelme ME, Alarcón GS, Anaya JM, Criswell LA, Freedman BI, Kamen DL, Gilkeson GS, Jacob CO, Merrill JT, Gaffney PM, Sivils KM, Niewold TB, Ramsey-Goldman R, Reveille JD, Scofield RH, Stevens AM, Boackle SA, Vilá LM, Sohn II, Lee S, Chang DM, Song YW, Vyse TJ, Harley JB, Brown EE, Edberg JC, Kimberly RP, Cantor RM, Hahn BH, Grossman JM, Tsao BP. Deng Y, et al. Ann Rheum Dis. 2016 Nov;75(11):2007-2013. doi: 10.1136/annrheumdis-2015-208441. Epub 2016 Jan 18. Ann Rheum Dis. 2016. PMID: 26783109 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
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.
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. 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.
A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus.
Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS, Chen W, Zhu C, McEver RP, Kimberly RP, Alarcón-Riquelme ME, Vyse TJ, Li QZ, Wakeland EK, Merrill JT, James JA, Kaufman KM, Guthridge JM, Harley JB. Nath SK, et al. Nat Genet. 2008 Feb;40(2):152-4. doi: 10.1038/ng.71. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204448
Common variants within MECP2 confer risk of systemic lupus erythematosus.
Sawalha AH, Webb R, Han S, Kelly JA, Kaufman KM, Kimberly RP, Alarcón-Riquelme ME, James JA, Vyse TJ, Gilkeson GS, Choi CB, Scofield RH, Bae SC, Nath SK, Harley JB. Sawalha AH, et al. PLoS One. 2008 Mar 5;3(3):e1727. doi: 10.1371/journal.pone.0001727. PLoS One. 2008. PMID: 18320046 Free PMC article.
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus.
Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, Hartiala J, Zhao L, Ortego-Centeno N, D'Alfonso S; Italian Collaborative Group; Arnett FC, Wu H, Gonzalez-Gay MA, Tsao BP, Pons-Estel B, Alarcon-Riquelme ME, He Y, Zhang ZY, Allayee H, Chen XS, Martin J, Bottini N. Orrú V, et al. Hum Mol Genet. 2009 Feb 1;18(3):569-79. doi: 10.1093/hmg/ddn363. Epub 2008 Nov 3. Hum Mol Genet. 2009. PMID: 18981062 Free PMC article.
Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE).
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK. Han S, et al. Hum Mol Genet. 2009 Mar 15;18(6):1171-80. doi: 10.1093/hmg/ddp007. Epub 2009 Jan 6. Hum Mol Genet. 2009. PMID: 19129174 Free PMC article.
Kallikrein genes are associated with lupus and glomerular basement membrane-specific antibody-induced nephritis in mice and humans.
Liu K, Li QZ, Delgado-Vega AM, Abelson AK, Sánchez E, Kelly JA, Li L, Liu Y, Zhou J, Yan M, Ye Q, Liu S, Xie C, Zhou XJ, Chung SA, Pons-Estel B, Witte T, de Ramón E, Bae SC, Barizzone N, Sebastiani GD, Merrill JT, Gregersen PK, Gilkeson GG, Kimberly RP, Vyse TJ, Kim I, D'Alfonso S, Martin J, Harley JB, Criswell LA; Profile Study Group; Italian Collaborative Group; German Collaborative Group; Spanish Collaborative Group; Argentinian Collaborative Group; SLEGEN Consortium; Wakeland EK, Alarcón-Riquelme ME, Mohan C. Liu K, et al. J Clin Invest. 2009 Apr;119(4):911-23. doi: 10.1172/JCI36728. J Clin Invest. 2009. PMID: 19307730 Free PMC article.
Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus.
Webb R, Wren JD, Jeffries M, Kelly JA, Kaufman KM, Tang Y, Frank MB, Merrill J, Kimberly RP, Edberg JC, Ramsey-Goldman R, Petri M, Reveille JD, Alarcón GS, Vilá LM, Alarcón-Riquelme ME, James JA, Vyse TJ, Moser KL, Gaffney PM, Gilkeson GS, Harley JB, Sawalha AH. Webb R, et al. Arthritis Rheum. 2009 Apr;60(4):1076-84. doi: 10.1002/art.24360. Arthritis Rheum. 2009. PMID: 19333917 Free PMC article.
283 results