Browsing by Author "Villar, Luisa M."

Now showing items 1-3 of 3

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      A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis 

      Matesanz, Fuencisla; Potenciano, Victor; Fedetz, María; Ramos-Mozo, Priscilla; Abad-Grau, María del Mar; Karaky, Mohamed; Barrionuevo, Cristina; Izquierdo, Guillermo; Ruiz-Peña, Juan Luis; García-Sánchez, María Isabel; Lucas, Miguel; Fernández, Óscar; Leyva, Laura; Otaegui, David; Muñoz-Culla, Maider; Olascoaga, Javier; Vandenbroeck, Koen; Alloza Moral, Iraide; Astobiza Pérez, Janire; Rodríguez-Antigüedad Zarranz, Alfredo; Villar, Luisa M.; Alvarez-Cermeño, José Carlos; Malhotra, Sunny; Comabella, Manuel; Montalbán, Xavier; Saiz, Albert; Blanco, Yolanda; Arroyo, Rafael; Varadé, Jezabel; Urcelay, Elena; Alcina, Antonio (Oxford University Pres, 2015-10-01)
      Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, ...
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      Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients 

      Sadovnick, A. Dessa; Traboulsee, Anthony L.; Bernales, Cecily Q.; Ross, Jay P.; Forwell, Amanda L.; Yee, Irene M.; Guillot-Noel, Lena; Fontaine, Bertrand; Cournu-Rebeix, Isabelle; Alcina, Antonio; Fedetz, María; Izquierdo, Guillermo; Matesanz, Fuencisla; Hilven, Kelly; Goris, An; Astobiza Pérez, Janire; Alloza Moral, Iraide; Rodríguez-Antigüedad Zarranz, Alfredo; Vandenbroeck, Koen; Akkad, Denis A.; Aktas, Orhan; Blaschke, Paul; Buttmann, Mathias; Chan, Andrew; Epplen, Joerg T.; Gerdes, Lisa-Ann; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Lohse, Peter; Rieckmann, Peter; Zettl, Uwe K.; Zipp, Frauke; Bertram, Lars; Lill, Christina M.; Fernández, Óscar; Urbaneja, Patricia; Leyva, Laura; Alvarez-Cermeño, José Carlos; Arroyo, Rafael; Garagorri, Aroa M.; García-Martínez, Angel; Villar, Luisa M.; Urcelay, Elena; Malhotra, Sunny; Montalbán, Xavier; Comabella, Manuel; Berger, Thomas; Fazekas, Franz; Reindl, Markus; Schmied, Mascha C.; Zimprich, Alexander; Vilariño-Güell, Carles (Genetics Society of America, 2016-07-01)
      Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) ...
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      Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells 

      Mena Lucía, Jorge; Alloza Moral, Iraide; Tulloch Navarro, Raquel; Aldekoa Etxabe, Ane; Díez-García, Javier ORCID; Villanueva Etxebarria, Ane; Lindskog, Cecilia; Antigüedad, Alfredo; Boyero, Sabas; Mendibe Bilbao, María del Mar; Álvarez de Arcaya, Amaia; Sánchez Menoyo, José Luis; Midaglia, Luciana; Villarrubia, Noelia; Malhotra, Sunny; Montalbán, Xavier; Villar, Luisa M.; Comabella, Manuel; Vandenbroeck, Koen (Frontiers Media, 2022)
      [EN] Intronic single-nucleotide polymorphisms (SNPs) in the ANKRD55 gene are associated with the risk for multiple sclerosis (MS) and rheumatoid arthritis by genome-wide association studies (GWAS). The risk alleles have ...