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A rare polymorphism in the gene for Toll-like receptor 2 is associated with systemic sclerosis phenotype and increases the production of inflammatory mediators.
Broen JC, Bossini-Castillo L, van Bon L, Vonk MC, Knaapen H, Beretta L, Rueda B, Hesselstrand R, Herrick A, Worthington J, Hunzelman N, Denton CP, Fonseca C, Riemekasten G, Kiener HP, Scorza R, Simeón CP, Ortego-Centeno N, Gonzalez-Gay MA, Airò P, Coenen MJ, Martín J, Radstake TR; Spanish Systemic Sclerosis Group. Broen JC, et al. Among authors: fonseca c. Arthritis Rheum. 2012 Jan;64(1):264-71. doi: 10.1002/art.33325. Arthritis Rheum. 2012. PMID: 21905008 Free article.
Endothelin axis polymorphisms in patients with scleroderma.
Fonseca C, Renzoni E, Sestini P, Pantelidis P, Lagan A, Bunn C, McHugh N, Welsh KI, Du Bois RM, Denton CP, Black C, Abraham D. Fonseca C, et al. Arthritis Rheum. 2006 Sep;54(9):3034-42. doi: 10.1002/art.22036. Arthritis Rheum. 2006. PMID: 16947775 Free article.
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
1,039 results