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PTPN22 is not associated with Behçet's disease. Study spanning the complete gene region in the Spanish population and meta-analysis of the functional variant R620W.
Ortiz-Fernández L, Montes-Cano MA, García-Lozano JR, Conde-Jaldón M, Ortego-Centeno N, González-Leon R, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Juliá MR, Solans R, Blanco R, Barnosi-Marín AC, Fanlo P, Rodríguez Carballeira M, Camps MT, Castañeda S, Martín J, González-Escribano MF. Ortiz-Fernández L, et al. Among authors: rodriguez carballeira m. Clin Exp Rheumatol. 2016 Sep-Oct;34(6 Suppl 102):S41-S45. Epub 2016 Apr 1. Clin Exp Rheumatol. 2016. PMID: 27050764
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: rodriguez carballeira m, rodriguez rodriguez l. 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.
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. Among authors: rodriguez carballeira m, rodriguez rodriguez l. Rheumatology (Oxford). 2011 Nov;50(11):1976-81. doi: 10.1093/rheumatology/ker259. Epub 2011 Aug 28. Rheumatology (Oxford). 2011. PMID: 21875883
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. Among authors: rodriguez carballeira m, rodriguez rodriguez l. Clin Exp Rheumatol. 2011 Sep-Oct;29(5):895-6. Epub 2011 Oct 31. Clin Exp Rheumatol. 2011. PMID: 22011385 No abstract available.
Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Martin JE, Broen JC, Carmona FD, Teruel M, Simeon CP, Vonk MC, van 't Slot R, Rodriguez-Rodriguez L, Vicente E, Fonollosa V, Ortego-Centeno N, González-Gay MA, García-Hernández FJ, de la Peña PG, Carreira P; Spanish Scleroderma Group; Voskuyl AE, Schuerwegh AJ, van Riel PL, Kreuter A, Witte T, Riemekasten G, Airo P, Scorza R, Lunardi C, Hunzelmann N, Distler JH, Beretta L, van Laar J, Chee MM, Worthington J, Herrick A, Denton C, Tan FK, Arnett FC, Assassi S, Fonseca C, Mayes MD, Radstake TR, Koeleman BP, Martin J. Martin JE, et al. Hum Mol Genet. 2012 Jun 15;21(12):2825-35. doi: 10.1093/hmg/dds099. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407130 Free PMC article.
Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
Mayes MD, Bossini-Castillo L, Gorlova O, Martin JE, Zhou X, Chen WV, Assassi S, Ying J, Tan FK, Arnett FC, Reveille JD, Guerra S, Teruel M, Carmona FD, Gregersen PK, Lee AT, López-Isac E, Ochoa E, Carreira P, Simeón CP, Castellví I, González-Gay MÁ; Spanish Scleroderma Group; Zhernakova A, Padyukov L, Alarcón-Riquelme M, Wijmenga C, Brown M, Beretta L, Riemekasten G, Witte T, Hunzelmann N, Kreuter A, Distler JH, Voskuyl AE, Schuerwegh AJ, Hesselstrand R, Nordin A, Airó P, Lunardi C, Shiels P, van Laar JM, Herrick A, Worthington J, Denton C, Wigley FM, Hummers LK, Varga J, Hinchcliff ME, Baron M, Hudson M, Pope JE, Furst DE, Khanna D, Phillips K, Schiopu E, Segal BM, Molitor JA, Silver RM, Steen VD, Simms RW, Lafyatis RA, Fessler BJ, Frech TM, Alkassab F, Docherty P, Kaminska E, Khalidi N, Jones HN, Markland J, Robinson D, Broen J, Radstake TR, Fonseca C, Koeleman BP, Martin J. Mayes MD, et al. Am J Hum Genet. 2014 Jan 2;94(1):47-61. doi: 10.1016/j.ajhg.2013.12.002. Am J Hum Genet. 2014. PMID: 24387989 Free PMC article.
A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility.
López-Isac E, Bossini-Castillo L, Simeon CP, Egurbide MV, Alegre-Sancho JJ, Callejas JL, Roman-Ivorra JA, Freire M, Beretta L, Santaniello A, Airó P, Lunardi C, Hunzelmann N, Riemekasten G, Witte T, Kreuter A, Distler JH, Schuerwegh AJ, Vonk MC, Voskuyl AE, Shiels PG, van Laar JM, Fonseca C, Denton C, Herrick A, Worthington J, Assassi S, Koeleman BP, Mayes MD, Radstake TR, Martin J; Spanish Scleroderma Group. López-Isac E, et al. Arthritis Res Ther. 2014 Jan 9;16(1):R6. doi: 10.1186/ar4432. Arthritis Res Ther. 2014. PMID: 24401602 Free PMC article.
GIMAP and Behçet disease: no association in the European population.
Ortiz-Fernández L, Conde-Jaldón M, García-Lozano JR, Montes-Cano MA, Ortego-Centeno N, Castillo-Palma MJ, Espinosa G, Graña-Gil G, Sánchez-Bursón J, González-Gay MA, Barnosi-Marín AC, Solans R, Fanlo P, Rodríguez Carballeira M, Camps T, Castañeda S, Martín J, González-Escribano MF. Ortiz-Fernández L, et al. Among authors: rodriguez carballeira m. Ann Rheum Dis. 2014 Jul;73(7):1433-4. doi: 10.1136/annrheumdis-2013-205156. Epub 2014 Mar 13. Ann Rheum Dis. 2014. PMID: 24625627 No abstract available.
Variants of the IFI16 gene affecting the levels of expression of mRNA are associated with susceptibility to Behçet disease.
Ortiz-Fernández L, García-Lozano JR, Montes-Cano MA, Conde-Jaldón M, Ortego-Centeno N, García-Hernández FJ, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Blanco R, Barnosi-Marín AC, Solans R, Fanlo P, Rodríguez-Carballeira M, Camps T, Castañeda S, Núñez-Roldán A, Martín J, González-Escribano MF. Ortiz-Fernández L, et al. Among authors: rodriguez carballeira m. J Rheumatol. 2015 Apr;42(4):695-701. doi: 10.3899/jrheum.140949. Epub 2015 Feb 1. J Rheumatol. 2015. PMID: 25641891
115 results