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Page 1
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. Among authors: delgado vega am. Ann Rheum Dis. 2015 Mar;74(3):e14. doi: 10.1136/annrheumdis-2013-204909. Epub 2014 Feb 17. Ann Rheum Dis. 2015. PMID: 24534757
STAT4 associates with systemic lupus erythematosus through two independent effects that correlate with gene expression and act additively with IRF5 to increase risk.
Abelson AK, Delgado-Vega AM, Kozyrev SV, Sánchez E, Velázquez-Cruz R, Eriksson N, Wojcik J, Linga Reddy MV, Lima G, D'Alfonso S, Migliaresi S, Baca V, Orozco L, Witte T, Ortego-Centeno N; AADEA group; Abderrahim H, Pons-Estel BA, Gutiérrez C, Suárez A, González-Escribano MF, Martin J, Alarcón-Riquelme ME. Abelson AK, et al. Ann Rheum Dis. 2009 Nov;68(11):1746-53. doi: 10.1136/ard.2008.097642. Epub 2008 Nov 19. Ann Rheum Dis. 2009. PMID: 19019891 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.
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
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: delgado vega am. Arthritis Rheum. 2010 Nov;62(11):3404-14. doi: 10.1002/art.27677. Arthritis Rheum. 2010. PMID: 20669283 Free article.
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: delgado vega am. 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.
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.
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. 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.
23 results