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The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis.
Martin JE, Carmona FD, Broen JC, Simeón CP, Vonk MC, Carreira P, Ríos-Fernández R, Espinosa G, Vicente-Rabaneda E, Tolosa C, García-Hernández FJ, Castellví I, Fonollosa V, González-Gay MA, Sáez-Comet L, Portales RG, de la Peña PG, Fernández-Castro M, Díaz B, Martínez-Estupiñán L, Coenen M, Voskuyl AE, Schuerwegh AJ, Vanthuyne M, Houssiau F, Smith V, de Keyser F, De Langhe E, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Palm Ø, Chee MM, van Laar JM, Denton C, Herrick A, Worthington J, Koeleman BP, Radstake TR, Fonseca C, Martín J; Spanish Scleroderma Group. Martin JE, et al. Among authors: fonseca c. Genes Immun. 2012 Feb;13(2):191-6. doi: 10.1038/gene.2011.72. Epub 2011 Oct 20. Genes Immun. 2012. PMID: 22012429
A polymorphism in the CTGF promoter region associated with systemic sclerosis.
Fonseca C, Lindahl GE, Ponticos M, Sestini P, Renzoni EA, Holmes AM, Spagnolo P, Pantelidis P, Leoni P, McHugh N, Stock CJ, Shi-Wen X, Denton CP, Black CM, Welsh KI, du Bois RM, Abraham DJ. Fonseca C, et al. N Engl J Med. 2007 Sep 20;357(12):1210-20. doi: 10.1056/NEJMoa067655. N Engl J Med. 2007. PMID: 17881752 Free article.
Functional variants of Fc gamma receptor (FCGR2A) and FCGR3A are not associated with susceptibility to systemic sclerosis in a large European Study (EUSTAR).
Alizadeh BZ, Broen J, Rueda B, Hesselstrand R, Wuttge D, Simeon C, Ortego-Centeno N, Gonzalez-Gay MA, Pros A, Herrick A, Worthington J, Denton C, Fonseca C, Riemekasten G, Vonk MC, van den Hoogen F, Guiducci S, Matucci-Cerinic M, Scorza R, Beretta L, Airó P, Coenen M, Martin J, Koeleman BP, Radstake TR; EUSTAR. Alizadeh BZ, et al. Among authors: fonseca c. J Rheumatol. 2010 Aug 1;37(8):1673-9. doi: 10.3899/jrheum.091259. Epub 2010 Jun 15. J Rheumatol. 2010. PMID: 20551103
The genetics of scleroderma.
Martin J, Fonseca C. Martin J, et al. Among authors: fonseca c. Curr Rheumatol Rep. 2011 Feb;13(1):13-20. doi: 10.1007/s11926-010-0139-5. Curr Rheumatol Rep. 2011. PMID: 20960081 Review.
A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.
Bossini-Castillo L, Broen JC, Simeon CP, Beretta L, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez L, Tolosa C, Román-Ivorra JA, Gómez-Gracia I, García-Hernández FJ, Castellví I, Gallego M, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, de la Peña PG, Pros A, González-Gay MA, Hesselstrand R, Riemekasten G, Witte T, Coenen MJ, Koeleman BP, Houssiau F, Smith V, de Keyser F, Westhovens R, De Langhe E, Voskuyl AE, Schuerwegh AJ, Chee MM, Madhok R, Shiels P, Fonseca C, Denton C, Claes K, Padykov L, Nordin A, Palm O, Lie BA, Airó P, Scorza R, van Laar JM, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Radstake TR, Martín J, Rueda B. Bossini-Castillo L, et al. Among authors: fonseca c. Ann Rheum Dis. 2011 Apr;70(4):638-41. doi: 10.1136/ard.2010.141838. Epub 2010 Dec 27. Ann Rheum Dis. 2011. PMID: 21187296
Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis.
Carmona FD, Simeon CP, Beretta L, Carreira P, Vonk MC, Ríos-Fernández R, Espinosa G, Navarrete N, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, García-Hernández FJ, Castellví I, Egurbide MV, Fonollosa V, González-Gay MA, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, Hesselstrand R, Riemekasten G, Witte T, Voskuyl AE, Schuerwegh AJ, Madhok R, Shiels P, Fonseca C, Denton C, Nordin A, Palm Ø, Hoffmann-Vold AM, Airó P, Scorza R, Lunardi C, van Laar JM, Hunzelmann N, Kreuter A, Herrick A, Worthington J, Koeleman BP, Radstake TR, Martín J. Carmona FD, et al. Among authors: fonseca c. Ann Rheum Dis. 2011 Nov;70(11):2050-2. doi: 10.1136/ard.2010.148874. Epub 2011 May 13. Ann Rheum Dis. 2011. PMID: 21571730 No abstract available.
1,037 results