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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. Arthritis Rheum. 2010 Nov;62(11):3404-14. doi: 10.1002/art.27677. Arthritis Rheum. 2010. PMID: 20669283 Free article.
Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.
Hughes T, Adler A, Merrill JT, Kelly JA, Kaufman KM, Williams A, Langefeld CD, Gilkeson GS, Sanchez E, Martin J, Boackle SA, Stevens AM, Alarcón GS, Niewold TB, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Petri M, Reveille JD, Criswell LA, Vilá LM, Jacob CO, Gaffney PM, Moser KL, Vyse TJ, Alarcón-Riquelme ME; BIOLUPUS Network; James JA, Tsao BP, Scofield RH, Harley JB, Richardson BC, Sawalha AH. Hughes T, et al. Ann Rheum Dis. 2012 May;71(5):694-9. doi: 10.1136/annrheumdis-2011-200385. Epub 2011 Nov 21. Ann Rheum Dis. 2012. PMID: 22110124 Free PMC article.
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Delgado-Vega AM, Dozmorov MG, Quirós MB, Wu YY, Martínez-García B, Kozyrev SV, Frostegård J, Truedsson L, de Ramón E, González-Escribano MF, Ortego-Centeno N, Pons-Estel BA, D'Alfonso S, Sebastiani GD, Witte T, Lauwerys BR, Endreffy E, Kovács L, Vasconcelos C, da Silva BM, Wren JD, Martin J, Castillejo-López C, Alarcón-Riquelme ME. Delgado-Vega AM, et al. Ann Rheum Dis. 2012 Jul;71(7):1219-26. doi: 10.1136/annrheumdis-2011-200987. Ann Rheum Dis. 2012. PMID: 22696686 Free PMC article.
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
IFI44L promoter methylation as a blood biomarker for systemic lupus erythematosus.
Zhao M, Zhou Y, Zhu B, Wan M, Jiang T, Tan Q, Liu Y, Jiang J, Luo S, Tan Y, Wu H, Renauer P, Del Mar Ayala Gutiérrez M, Castillo Palma MJ, Ortega Castro R, Fernández-Roldán C, Raya E, Faria R, Carvalho C, Alarcón-Riquelme ME, Xiang Z, Chen J, Li F, Ling G, Zhao H, Liao X, Lin Y, Sawalha AH, Lu Q. Zhao M, et al. Ann Rheum Dis. 2016 Nov;75(11):1998-2006. doi: 10.1136/annrheumdis-2015-208410. Epub 2016 Jan 19. Ann Rheum Dis. 2016. PMID: 26787370 Free PMC article.
305 results