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Page 1
Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis.
Alcina A, Fedetz M, Fernández O, Saiz A, Izquierdo G, Lucas M, Leyva L, García-León JA, Abad-Grau Mdel M, Alloza I, Antigüedad A, Garcia-Barcina MJ, Vandenbroeck K, Varadé J, de la Hera B, Arroyo R, Comabella M, Montalban X, Petit-Marty N, Navarro A, Otaegui D, Olascoaga J, Blanco Y, Urcelay E, Matesanz F. Alcina A, et al. Among authors: antiguedad a. J Med Genet. 2013 Jan;50(1):25-33. doi: 10.1136/jmedgenet-2012-101085. Epub 2012 Nov 17. J Med Genet. 2013. PMID: 23160276 Free PMC article.
A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
Matesanz F, Potenciano V, Fedetz M, Ramos-Mozo P, Abad-Grau Mdel M, Karaky M, Barrionuevo C, Izquierdo G, Ruiz-Peña JL, García-Sánchez MI, Lucas M, Fernández Ó, Leyva L, Otaegui D, Muñoz-Culla M, Olascoaga J, Vandenbroeck K, Alloza I, Astobiza I, Antigüedad A, Villar LM, Álvarez-Cermeño JC, Malhotra S, Comabella M, Montalban X, Saiz A, Blanco Y, Arroyo R, Varadé J, Urcelay E, Alcina A. Matesanz F, et al. Among authors: antiguedad a. Hum Mol Genet. 2015 Oct 1;24(19):5619-27. doi: 10.1093/hmg/ddv256. Epub 2015 Jul 7. Hum Mol Genet. 2015. PMID: 26152201
Genome-wide significant association with seven novel multiple sclerosis risk loci.
Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L. Lill CM, et al. Among authors: antiguedad a. J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16. J Med Genet. 2015. PMID: 26475045
The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
Alcina A, Vandenbroeck K, Otaegui D, Saiz A, Gonzalez JR, Fernandez O, Cavanillas ML, Cénit MC, Arroyo R, Alloza I, García-Barcina M, Antigüedad A, Leyva L, Izquierdo G, Lucas M, Fedetz M, Pinto-Medel MJ, Olascoaga J, Blanco Y, Comabella M, Montalban X, Urcelay E, Matesanz F. Alcina A, et al. Among authors: antiguedad a. Genes Immun. 2010 Jul;11(5):439-45. doi: 10.1038/gene.2010.30. Epub 2010 May 27. Genes Immun. 2010. PMID: 20508602
Validation of the CD6 and TNFRSF1A loci as risk factors for multiple sclerosis in Spain.
Swaminathan B, Matesanz F, Cavanillas ML, Alloza I, Otaegui D, Olascoaga J, Cénit MC, de las Heras V, Barcina MG, Arroyo R, Alcina A, Fernandez O, Antigüedad A, Urcelay E, Vandenbroeck K. Swaminathan B, et al. Among authors: antiguedad a. J Neuroimmunol. 2010 Jun;223(1-2):100-3. doi: 10.1016/j.jneuroim.2010.03.020. Epub 2010 Apr 28. J Neuroimmunol. 2010. PMID: 20430450
Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes.
Varadé J, Comabella M, Ortiz MA, Arroyo R, Fernández O, Pinto-Medel MJ, Fedetz M, Izquierdo G, Lucas M, Gómez CL, Rabasa AC, Alcina A, Matesanz F, Alloza I, Antigüedad A, García-Barcina M, Otaegui D, Olascoaga J, Saiz A, Blanco Y, Montalbán X, Vandenbroeck K, Urcelay E. Varadé J, et al. Among authors: antiguedad a. Mult Scler. 2012 Jul;18(7):959-65. doi: 10.1177/1352458511432741. Epub 2011 Dec 22. Mult Scler. 2012. PMID: 22194214
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.
Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}; Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F. Lill CM, et al. Among authors: antiguedad a. J Med Genet. 2012 Sep;49(9):558-62. doi: 10.1136/jmedgenet-2012-101175. J Med Genet. 2012. PMID: 22972946
Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.
Lill CM, Schjeide BM, Graetz C, Liu T, Damotte V, Akkad DA, Blaschke P, Gerdes LA, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Fontaine B, Zipp F, Vandenbroeck K, Bertram L. Lill CM, et al. Among authors: antiguedad a. J Med Genet. 2013 Mar;50(3):140-3. doi: 10.1136/jmedgenet-2012-101411. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315543 No abstract available.
Fine mapping and functional analysis of the multiple sclerosis risk gene CD6.
Swaminathan B, Cuapio A, Alloza I, Matesanz F, Alcina A, García-Barcina M, Fedetz M, Fernández O, Lucas M, Orpez T, Pinto-Medel MJ, Otaegui D, Olascoaga J, Urcelay E, Ortiz MA, Arroyo R, Oksenberg JR, Antigüedad A, Tolosa E, Vandenbroeck K. Swaminathan B, et al. Among authors: antiguedad a. PLoS One. 2013 Apr 24;8(4):e62376. doi: 10.1371/journal.pone.0062376. Print 2013. PLoS One. 2013. PMID: 23638056 Free PMC article.
Human endogenous retrovirus HERV-Fc1 association with multiple sclerosis susceptibility: a meta-analysis.
de la Hera B, Varadé J, García-Montojo M, Alcina A, Fedetz M, Alloza I, Astobiza I, Leyva L, Fernández O, Izquierdo G, Antigüedad A, Arroyo R, Álvarez-Lafuente R, Vandenbroeck K, Matesanz F, Urcelay E. de la Hera B, et al. Among authors: antiguedad a. PLoS One. 2014 Mar 3;9(3):e90182. doi: 10.1371/journal.pone.0090182. eCollection 2014. PLoS One. 2014. PMID: 24594754 Free PMC article.
54 results