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Page 1
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. 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
[Genetics in scleroderma].
Bossini-Castillo L, Martín JE, Díaz-Gallo LM, Rueda B, Martín J. Bossini-Castillo L, et al. Reumatol Clin. 2010 Sep;6 Suppl 2:12-5. doi: 10.1016/j.reuma.2010.04.005. Epub 2010 Aug 9. Reumatol Clin. 2010. PMID: 21794758 Free article. Spanish.
Confirmation of association of the macrophage migration inhibitory factor gene with systemic sclerosis in a large European population.
Bossini-Castillo L, Simeon CP, Beretta L, Vonk MC, Callejas-Rubio JL, Espinosa G, Carreira P, Camps MT, Rodríguez-Rodríguez L, Rodríguez-Carballeira M, García-Hernández FJ, López-Longo FJ, Hernández-Hernández V, Sáez-Comet L, Egurbide MV, Hesselstrand R, Nordin A, Hoffmann-Vold AM, Vanthuyne M, Smith V, De Langhe E, Kreuter A, Riemekasten G, Witte T, Hunzelmann N, Voskuyl AE, Schuerwegh AJ, Lunardi C, Airó P, Scorza R, Shiels P, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Koeleman BP, Rueda B, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Rheumatology (Oxford). 2011 Nov;50(11):1976-81. doi: 10.1093/rheumatology/ker259. Epub 2011 Aug 28. Rheumatology (Oxford). 2011. PMID: 21875883
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. Arthritis Rheum. 2012 Jan;64(1):264-71. doi: 10.1002/art.33325. Arthritis Rheum. 2012. PMID: 21905008 Free article.
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.
Bossini-Castillo L, Martin JE, Broen J, Gorlova O, Simeón CP, Beretta L, Vonk MC, Callejas JL, Castellví I, Carreira P, García-Hernández FJ, Fernández Castro M; Spanish Scleroderma Group; Coenen MJ, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Koeleman BP, Voskuyl AE, Schuerwegh AJ, Palm Ø, Hesselstrand R, Nordin A, Airó P, Lunardi C, Scorza R, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Tan FK, Arnett FC, Agarwal SK, Assassi S, Fonseca C, Mayes MD, Radstake TR, Martin J. Bossini-Castillo L, et al. Hum Mol Genet. 2012 Feb 15;21(4):926-33. doi: 10.1093/hmg/ddr522. Epub 2011 Nov 10. Hum Mol Genet. 2012. PMID: 22076442 Free PMC article.
Unraveling the genetic component of systemic sclerosis.
Martín JE, Bossini-Castillo L, Martín J. Martín JE, et al. Hum Genet. 2012 Jul;131(7):1023-37. doi: 10.1007/s00439-011-1137-z. Epub 2012 Jan 5. Hum Genet. 2012. PMID: 22218928 Review.
Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.
Coustet B, Bouaziz M, Dieudé P, Guedj M, Bossini-Castillo L, Agarwal S, Radstake T, Martin J, Gourh P, Elhai M, Koumakis E, Avouac J, Ruiz B, Mayes M, Arnett F, Hachulla E, Diot E, Cracowski JL, Tiev K, Sibilia J, Mouthon L, Frances C, Amoura Z, Carpentier P, Cosnes A, Meyer O, Kahan A, Boileau C, Chiocchia G, Allanore Y. Coustet B, et al. J Rheumatol. 2012 May;39(5):997-1003. doi: 10.3899/jrheum.111270. Epub 2012 Mar 15. J Rheumatol. 2012. PMID: 22422496 Free PMC article.
IRF5 polymorphism predicts prognosis in patients with systemic sclerosis.
Sharif R, Mayes MD, Tan FK, Gorlova OY, Hummers LK, Shah AA, Furst DE, Khanna D, Martin J, Bossini-Castillo L, Gonzalez EB, Ying J, Draeger HT, Agarwal SK, Reveille JD, Arnett FC, Wigley FM, Assassi S. Sharif R, et al. Ann Rheum Dis. 2012 Jul;71(7):1197-202. doi: 10.1136/annrheumdis-2011-200901. Epub 2012 Mar 22. Ann Rheum Dis. 2012. PMID: 22440820 Free PMC article.
A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.
Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, Espinosa G, Carreira P, Camps MT, Castillo MJ, González-Gay MA, Beltrán E, Carmen Freire Md, Narváez J, Tolosa C, Witte T, Kreuter A, Schuerwegh AJ, Hoffmann-Vold AM, Hesselstrand R, Lunardi C, van Laar JM, Chee MM, Herrick A, Koeleman BP, Denton CP, Fonseca C, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Arthritis Res Ther. 2012 Apr 24;14(2):R85. doi: 10.1186/ar3809. Arthritis Res Ther. 2012. PMID: 22531499 Free PMC article.
Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study.
Bossini-Castillo L, Martin JE, Broen J, Simeon CP, Beretta L, Gorlova OY, Vonk MC, Ortego-Centeno N, Espinosa G, Carreira P, García de la Peña P, Oreiro N, Román-Ivorra JA, Castillo MJ, González-Gay MA, Sáez-Comet L, Castellví I, Schuerwegh AJ, Voskuyl AE, Hoffmann-Vold AM, Hesselstrand R, Nordin A, Lunardi C, Scorza R, van Laar JM, Shiels PG, Herrick A, Worthington J, Fonseca C, Denton C, Tan FK, Arnett FC, Assassi S, Koeleman BP, Mayes MD, Radstake TR, Martin J; Spanish Scleroderma Group. Bossini-Castillo L, et al. Ann Rheum Dis. 2013 Apr;72(4):602-7. doi: 10.1136/annrheumdis-2012-201888. Epub 2012 Aug 15. Ann Rheum Dis. 2013. PMID: 22896740 Free PMC article.
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