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Page 1
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. 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.
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
Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.
Carmona FD, Gutala R, Simeón CP, Carreira P, Ortego-Centeno N, Vicente-Rabaneda E, García-Hernández FJ, García de la Peña P, Fernández-Castro M, Martínez-Estupiñán L, Egurbide MV, Tsao BP, Gourh P, Agarwal SK, Assassi S, Mayes MD, Arnett FC, Tan FK, Martín J; Spanish Scleroderma Group. Carmona FD, et al. Ann Rheum Dis. 2012 Jan;71(1):114-9. doi: 10.1136/annrheumdis-2011-200275. Epub 2011 Sep 16. Ann Rheum Dis. 2012. PMID: 21926187 Free PMC article.
No evidence for association between the CCR5/Delta32CCR5 polymorphism and systemic sclerosis.
Carmona FD, Serrano-Lopera A, López-Isac E, Simeón CP, Carreira P, Rios-Fernandez R, Espinosa G, Camps MT, Navarrete N, González-Escribano MF, Vicente-Rabaneda E, Rodríguez-Rodríguez L, Tolosa C, Beltrán E, Gómez-Garcia I, Fernández-Castro M, López-Longo FJ, García-Hernández FJ, Castellví I, Trapiella L, Fernández-Nebro A, García-Portales R, Egurbide MV, Fonollosa V, García de la Peña P, Pros A, Rodríguez-Carballeira M, Díaz-Gónzalez F, Sáez-Comet L, González-Gay MA, Martín J. Carmona FD, et al. Clin Exp Rheumatol. 2011 Sep-Oct;29(5):895-6. Epub 2011 Oct 31. Clin Exp Rheumatol. 2011. PMID: 22011385 No abstract available.
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. Genes Immun. 2012 Feb;13(2):191-6. doi: 10.1038/gene.2011.72. Epub 2011 Oct 20. Genes Immun. 2012. PMID: 22012429
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
Cénit MC, Simeón CP, Fonollosa V, Espinosa G, Beltrán E, Sáez-Comet L, Vicente-Rabaneda E, García-Hernández FJ, Martínez-Estupiñán L, Rodríguez-Carballeira M, Hernández V, de la Peña PG, Fernández-Castro M, Narváez FJ, Pros A, Gallego M, Ríos-Fernández R, Camps MT, Fernández-Nebro A, Egurbide MV, Carreira P, González-Gay MA, Martín J; Spanish Scleroderma Group. Cénit MC, et al. Tissue Antigens. 2012 Sep;80(3):254-8. doi: 10.1111/j.1399-0039.2012.01915.x. Epub 2012 Jun 29. Tissue Antigens. 2012. PMID: 22742541
KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor.
Bossini-Castillo L, Simeon CP, Beretta L, Broen J, Vonk MC, Callejas JL, Carreira P, Rodríguez-Rodríguez L, García-Portales R, González-Gay MA, Castellví I, Camps MT, Tolosa C, Vicente-Rabaneda E, Egurbide MV; Spanish Scleroderma Group; Schuerwegh AJ, Hesselstrand R, Lunardi C, van Laar JM, Shiels P, Herrick A, Worthington J, Denton C, Radstake TR, Fonseca C, Martin J. Bossini-Castillo L, et al. Arthritis Res Ther. 2012 Dec 27;14(6):R273. doi: 10.1186/ar4124. Arthritis Res Ther. 2012. PMID: 23270786 Free PMC article.
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Martin JE, Assassi S, Diaz-Gallo LM, Broen JC, Simeon CP, Castellvi I, Vicente-Rabaneda E, Fonollosa V, Ortego-Centeno N, González-Gay MA, Espinosa G, Carreira P; Spanish Scleroderma Group; SLEGEN consortium; U.S. Scleroderma GWAS group; BIOLUPUS; Camps M, Sabio JM, D'alfonso S, Vonk MC, Voskuyl AE, Schuerwegh AJ, Kreuter A, Witte T, Riemekasten G, Hunzelmann N, Airo P, Beretta L, Scorza R, Lunardi C, Van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Fonseca C, Tan FK, Arnett F, Zhou X, Reveille JD, Gorlova O, Koeleman BP, Radstake TR, Vyse T, Mayes MD, Alarcón-Riquelme ME, Martin J. Martin JE, et al. Hum Mol Genet. 2013 Oct 1;22(19):4021-9. doi: 10.1093/hmg/ddt248. Epub 2013 Jun 4. Hum Mol Genet. 2013. PMID: 23740937 Free PMC article.
Gastrointestinal involvement in adult IGA vasculitis.
Castañeda S, Vicente-Rabaneda EF, Blanco R, González-Gay MA. Castañeda S, et al. Rheumatology (Oxford). 2020 Oct 1;59(10):2659-2660. doi: 10.1093/rheumatology/keaa328. Rheumatology (Oxford). 2020. PMID: 32901256 No abstract available.
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