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Page 1
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. Among authors: martin j. Genes Immun. 2012 Feb;13(2):191-6. doi: 10.1038/gene.2011.72. Epub 2011 Oct 20. Genes Immun. 2012. PMID: 22012429
The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype.
Rueda B, Broen J, Torres O, Simeon C, Ortego-Centeno N, Schrijvenaars MM, Vonk MC, Fonollosa V, van den Hoogen FH, Coenen MJ, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Martin J, Radstake TR. Rueda B, et al. Among authors: martin j. Ann Rheum Dis. 2009 Feb;68(2):253-6. doi: 10.1136/ard.2008.096719. Epub 2008 Aug 19. Ann Rheum Dis. 2009. PMID: 18713787
A large multicentre analysis of CTGF -945 promoter polymorphism does not confirm association with systemic sclerosis susceptibility or phenotype.
Rueda B, Simeon C, Hesselstrand R, Herrick A, Worthington J, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Gonzalez-Escribano MF, Coenen MJ, Lambert N, Nelson JL, Radstake TR, Martin J. Rueda B, et al. Among authors: martin j. Ann Rheum Dis. 2009 Oct;68(10):1618-20. doi: 10.1136/ard.2008.100180. Epub 2008 Dec 3. Ann Rheum Dis. 2009. PMID: 19054816 Free PMC article.
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype.
Rueda B, Broen J, Simeon C, Hesselstrand R, Diaz B, Suárez H, Ortego-Centeno N, Riemekasten G, Fonollosa V, Vonk MC, van den Hoogen FH, Sanchez-Román J, Aguirre-Zamorano MA, García-Portales R, Pros A, Camps MT, Gonzalez-Gay MA, Coenen MJ, Airo P, Beretta L, Scorza R, van Laar J, Gonzalez-Escribano MF, Nelson JL, Radstake TR, Martin J. Rueda B, et al. Among authors: martin j. Hum Mol Genet. 2009 Jun 1;18(11):2071-7. doi: 10.1093/hmg/ddp119. Epub 2009 Mar 13. Hum Mol Genet. 2009. PMID: 19286670
Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis.
McKinney C, Broen JC, Vonk MC, Beretta L, Hesselstrand R, Hunzelmann N, Riemekasten G, Scorza R, Simeon CP, Fonollosa V, Carreira PE, Ortego-Centeno N, Gonzalez-Gay MA, Airo P, Coenen M, Martin J, Radstake TR, Merriman TR. McKinney C, et al. Among authors: martin j. Genes Immun. 2012 Sep;13(6):458-60. doi: 10.1038/gene.2012.15. Epub 2012 May 3. Genes Immun. 2012. PMID: 22551723
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. Among authors: martin j. 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
Investigation of TLR5 and TLR7 as candidate genes for susceptibility to systemic lupus erythematosus.
Sánchez E, Callejas-Rubio JL, Sabio JM, Gónzalez-Gay MA, Jimenez-Alonso J, Micó L, de Ramón E, Camps M, Suarez A, Gutierrez C, Garcia-Portales R, Tolosa C, Ortego-Centeno N, Sánchez-Román J, Garcia-Hernández FJ, Gónzalez-Escribano MF, Martin J. Sánchez E, et al. Among authors: martin j. Clin Exp Rheumatol. 2009 Mar-Apr;27(2):267-71. Clin Exp Rheumatol. 2009. PMID: 19473567
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