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Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD. Vilariño-Güell C, et al. Among authors: vandenbroeck k. PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun. PLoS Genet. 2019. PMID: 31170158 Free PMC article.
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.
Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C. Sadovnick AD, et al. Among authors: vandenbroeck k. G3 (Bethesda). 2016 Jul 7;6(7):2073-9. doi: 10.1534/g3.116.030841. G3 (Bethesda). 2016. PMID: 27194806 Free PMC article.
IFN-beta pharmacogenomics in multiple sclerosis.
Vandenbroeck K, Urcelay E, Comabella M. Vandenbroeck K, et al. Pharmacogenomics. 2010 Aug;11(8):1137-48. doi: 10.2217/pgs.10.108. Pharmacogenomics. 2010. PMID: 20712530 Review.
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: vandenbroeck k. 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.
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: vandenbroeck k. PLoS One. 2014 Mar 3;9(3):e90182. doi: 10.1371/journal.pone.0090182. eCollection 2014. PLoS One. 2014. PMID: 24594754 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: vandenbroeck k. 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: vandenbroeck k. 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
Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis.
Alcina A, Fedetz M, Vidal-Cobo I, Andrés-León E, García-Sánchez MI, Barroso-Del-Jesus A, Eichau S, Gil-Varea E, Luisa-Maria Villar, Saiz A, Leyva L, Vandenbroeck K, Otaegui D, Izquierdo G, Comabella M, Urcelay E, Matesanz F. Alcina A, et al. Among authors: vandenbroeck k. Hum Mol Genet. 2022 Jul 7;31(13):2155-2163. doi: 10.1093/hmg/ddac009. Hum Mol Genet. 2022. PMID: 35088080 Free PMC article.
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: vandenbroeck k. 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: vandenbroeck k. Mult Scler. 2012 Jul;18(7):959-65. doi: 10.1177/1352458511432741. Epub 2011 Dec 22. Mult Scler. 2012. PMID: 22194214
121 results