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PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.
Oparina NY, Delgado-Vega AM, Martinez-Bueno M, Magro-Checa C, Fernández C, Castro RO, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Lauwerys BR, Endreffy E, Kovács L, Escudero A, López-Pedrera C, Vasconcelos C, da Silva BM, Frostegård J, Truedsson L, Martin J, Raya E, Ortego-Centeno N, de Los Angeles Aguirre M, de Ramón Garrido E, Palma MJ, Alarcon-Riquelme ME, Kozyrev SV. Oparina NY, et al. Ann Rheum Dis. 2015 Mar;74(3):e14. doi: 10.1136/annrheumdis-2013-204909. Epub 2014 Feb 17. Ann Rheum Dis. 2015. PMID: 24534757
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME. Kozyrev SV, et al. Nat Genet. 2008 Feb;40(2):211-6. doi: 10.1038/ng.79. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204447
Corrigendum: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MP, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barrizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, Francisca González-Escribano M, Martin J, Abderrahim H, Alarcón-Riquelme ME. Kozyrev SV, et al. Nat Genet. 2008 Apr;40(4):484. doi: 10.1038/ng0408-484. Nat Genet. 2008. PMID: 18368128 No abstract available.
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.
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.
Genetic associations of LYN with systemic lupus erythematosus.
Lu R, Vidal GS, Kelly JA, Delgado-Vega AM, Howard XK, Macwana SR, Dominguez N, Klein W, Burrell C, Harley IT, Kaufman KM, Bruner GR, Moser KL, Gaffney PM, Gilkeson GS, Wakeland EK, Li QZ, Langefeld CD, Marion MC, Divers J, Alarcón GS, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Reveille JD, McGwin G Jr, Vilá LM, Petri MA, Bae SC, Cho SK, Bang SY, Kim I, Choi CB, Martin J, Vyse TJ, Merrill JT, Harley JB, Alarcón-Riquelme ME; BIOLUPUS and GENLES Multicenter Collaborations; Nath SK, James JA, Guthridge JM. Lu R, et al. Genes Immun. 2009 Jul;10(5):397-403. doi: 10.1038/gene.2009.19. Epub 2009 Apr 16. Genes Immun. 2009. PMID: 19369946 Free PMC article.
Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
Suarez-Gestal M, Calaza M, Endreffy E, Pullmann R, Ordi-Ros J, Sebastiani GD, Ruzickova S, Jose Santos M, Papasteriades C, Marchini M, Skopouli FN, Suarez A, Blanco FJ, D'Alfonso S, Bijl M, Carreira P, Witte T, Migliaresi S, Gomez-Reino JJ, Gonzalez A; European Consortium of SLE DNA Collections. Suarez-Gestal M, et al. Arthritis Res Ther. 2009;11(3):R69. doi: 10.1186/ar2698. Epub 2009 May 14. Arthritis Res Ther. 2009. PMID: 19442287 Free PMC article.
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.
Sánchez E, Palomino-Morales RJ, Ortego-Centeno N, Jiménez-Alonso J, González-Gay MA, López-Nevot MA, Sánchez-Román J, de Ramón E, González-Escribano MF, Pons-Estel BA, D'Alfonso S, Sebastiani GD; Italian collaborative group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Hum Mol Genet. 2009 Oct 1;18(19):3739-48. doi: 10.1093/hmg/ddp301. Epub 2009 Jul 7. Hum Mol Genet. 2009. PMID: 19584085
Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.
Löfgren SE, Yin H, Delgado-Vega AM, Sanchez E, Lewén S, Pons-Estel BA, Witte T, D'Alfonso S, Ortego-Centeno N, Martin J, Alarcón-Riquelme ME, Kozyrev SV. Löfgren SE, et al. J Rheumatol. 2010 Mar;37(3):574-8. doi: 10.3899/jrheum.090440. Epub 2010 Jan 15. J Rheumatol. 2010. PMID: 20080916
279 results