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Page 1
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S, Montes-Cano MA, García-Lozano JR, Ortiz-Fernández L, Ortego-Centeno N, García-Hernández FJ, Espinosa G, Graña-Gil G, Sánchez-Bursón J, Rosa Juliá M, Solans R, Blanco R, Barnosi-Marín AC, Gómez De la Torre R, Fanlo P, Rodríguez-Carballeira M, Rodríguez-Rodríguez L, Camps T, Castañeda S, Alegre-Sancho JJ, Martín J, González-Escribano MF. Burillo-Sanz S, et al. Sci Rep. 2017 Aug 16;7(1):8453. doi: 10.1038/s41598-017-09164-7. Sci Rep. 2017. PMID: 28814775 Free PMC article.
Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus.
Orozco G, Sánchez E, González-Gay MA, López-Nevot MA, Torres B, Cáliz R, Ortego-Centeno N, Jiménez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nuñez-Roldan A, González-Escribano MF, Martín J. Orozco G, et al. Arthritis Rheum. 2005 Jan;52(1):219-24. doi: 10.1002/art.20771. Arthritis Rheum. 2005. PMID: 15641066 Free article.
Association of a CD24 gene polymorphism with susceptibility to systemic lupus erythematosus.
Sánchez E, Abelson AK, Sabio JM, González-Gay MA, Ortego-Centeno N, Jiménez-Alonso J, de Ramón E, Sánchez-Román J, López-Nevot MA, Gunnarsson I, Svenungsson E, Sturfelt G, Truedsson L, Jönsen A, González-Escribano MF, Witte T; German Systemic Lupus Erythematosus Study Group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Arthritis Rheum. 2007 Sep;56(9):3080-6. doi: 10.1002/art.22871. Arthritis Rheum. 2007. PMID: 17763438 Free article.
Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus.
Sánchez E, Palomino-Morales RJ, Ortego-Centeno N, Jiménez-Alonso J, González-Gay MA, López-Nevot MA, Sánchez-Román J, de Ramón E, González-Escribano MF, Pons-Estel BA, D'Alfonso S, Sebastiani GD; Italian collaborative group; Alarcón-Riquelme ME, Martín J. Sánchez E, et al. Hum Mol Genet. 2009 Oct 1;18(19):3739-48. doi: 10.1093/hmg/ddp301. Epub 2009 Jul 7. Hum Mol Genet. 2009. PMID: 19584085
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
The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples.
Rodríguez-Rodríguez L, Taib WR, Topless R, Steer S, González-Escribano MF, Balsa A, Pascual-Salcedo D, González-Gay MA, Raya E, Fernandez-Gutierrez B, González-Álvaro I, Bottini N, Witte T, Viken MK, Coenen MJ, van Riel PL, Franke B, den Heijer M, Radstake TR, Wordsworth P, Lie BA, Merriman TR, Martín J. Rodríguez-Rodríguez L, et al. Arthritis Rheum. 2011 Feb;63(2):365-72. doi: 10.1002/art.30145. Arthritis Rheum. 2011. PMID: 21279993 Free article.
Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region.
Martín JE, Alizadeh BZ, González-Gay MA, Balsa A, Pascual-Salcedo D, González-Escribano MF, Rodriguez-Rodriguez L, Fernández-Gutiérrez B, Raya E, Coenen MJ, van Riel P, Radstake TR, Kvien TK, Viken MK, Lie BA, Koeleman BP, Martín J. Martín JE, et al. J Rheumatol. 2011 Nov;38(11):2290-6. doi: 10.3899/jrheum.110361. Epub 2011 Oct 1. J Rheumatol. 2011. PMID: 21965649
167 results