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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. Among authors: sanchez e. J Rheumatol. 2010 Mar;37(3):574-8. doi: 10.3899/jrheum.090440. Epub 2010 Jan 15. J Rheumatol. 2010. PMID: 20080916
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. Among authors: sanchez e. Nat Genet. 2008 Feb;40(2):211-6. doi: 10.1038/ng.79. Epub 2008 Jan 20. Nat Genet. 2008. PMID: 18204447
A 3'-untranslated region variant is associated with impaired expression of CD226 in T and natural killer T cells and is associated with susceptibility to systemic lupus erythematosus.
Löfgren SE, Delgado-Vega AM, Gallant CJ, Sánchez E, Frostegård J, Truedsson L, de Ramón Garrido E, Sabio JM, González-Escribano MF, Pons-Estel BA, D'Alfonso S, Witte T, Lauwerys BR, Endreffy E, Kovács L, Vasconcelos C, Martins da Silva B, Martín J, Alarcón-Riquelme ME, Kozyrev SV. Löfgren SE, et al. Among authors: sanchez e. Arthritis Rheum. 2010 Nov;62(11):3404-14. doi: 10.1002/art.27677. Arthritis Rheum. 2010. PMID: 20669283 Free article.
Recent findings on genetics of systemic autoimmune diseases.
Delgado-Vega A, Sánchez E, Löfgren S, Castillejo-López C, Alarcón-Riquelme ME. Delgado-Vega A, et al. Among authors: sanchez e. Curr Opin Immunol. 2010 Dec;22(6):698-705. doi: 10.1016/j.coi.2010.09.002. Epub 2010 Oct 20. Curr Opin Immunol. 2010. PMID: 20933377 Free PMC article. Review.
Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus.
Sánchez E, Abelson AK, Sabio JM, González-Gay MA, Ortego-Centeno N, Jiménez-Alonso J, de Ramón E, Sánchez-Román J, López-Nevot MA, Gunnarsson I, Svenungsson E, Sturfelt G, Truedsson L, Jönsen A, González-Escribano MF, Witte T; German Systemic Lupus Erythematosus Study Group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Among authors: sanchez roman j. Arthritis Rheum. 2007 Sep;56(9):3080-6. doi: 10.1002/art.22871. Arthritis Rheum. 2007. PMID: 17763438 Free 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. Among authors: sanchez roman j. 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
Genetic and physical interaction of the B-cell systemic lupus erythematosus-associated genes BANK1 and BLK.
Castillejo-López C, Delgado-Vega AM, Wojcik J, Kozyrev SV, Thavathiru E, Wu YY, Sánchez E, Pöllmann D, López-Egido JR, Fineschi S, Domínguez N, Lu R, James JA, Merrill JT, Kelly JA, Kaufman KM, Moser KL, Gilkeson G, Frostegård J, Pons-Estel BA, D'Alfonso S, Witte T, Callejas JL, Harley JB, Gaffney PM, Martin J, Guthridge JM, Alarcón-Riquelme ME. Castillejo-López C, et al. Among authors: sanchez e. Ann Rheum Dis. 2012 Jan;71(1):136-42. doi: 10.1136/annrheumdis-2011-200085. Epub 2011 Oct 6. Ann Rheum Dis. 2012. PMID: 21978998 Free PMC article.
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. Among authors: sanchez e. Nat Genet. 2008 Apr;40(4):484. doi: 10.1038/ng0408-484. Nat Genet. 2008. PMID: 18368128 No abstract available.
2,213 results