Now showing items 1-7 of 7

    • Thumbnail

      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, ...
    • Thumbnail

      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) ...
    • Thumbnail

      Evidence of conditioned behavior in amoebae 

      Martínez de la Fuente Martínez, Ildefonso Abel; Bringas Roldán, Carlos; Malaina Celada, Iker ORCID; Fedetz, María; Carrasco Pujante, José; Morales, Miguel; Knafo Farhi, Dina Shira; Martínez Fernández, Luis ORCID; Pérez Samartín, Alberto Luis ORCID; López Fernández de Villaverde, José Ignacio ORCID; Pérez-Yarza Pérez-Irezabal, Gorka ORCID; Boyano López, María Dolores ORCID (Nature, 2019-08-15)
      Associative memory is the main type of learning by which complex organisms endowed with evolved nervous systems respond efficiently to certain environmental stimuli. It has been found in different multicellular species, ...
    • Thumbnail

      Fine mapping and functional analysis of the multiple sclerosis risk gene CD6 

      Swaminathan, Bhairavi; Cuapio, Angélica; Alloza Moral, Iraide; Matesanz, Fuencisla; Alcina, Antonio; García-Barcina, María; Fedetz, María; Fernández, Óscar; Órpez, Teresa; Pinto-Medel, Mº Jesús; Otaegui Bichot, David; Olascoaga, Javier; Urcelay, Elena; Ortiz, Miguel A.; Arroyo, Rafael; Oksenberg, Jorge R.; Rodríguez-Antigüedad Zarranz, Alfredo; Tolosa, Eva; Vandenbroeck, Koen (Public Library of Science, 2013)
      CD6 has recently been identified and validated as risk gene for multiple sclerosis (MS), based on the association of a single nucleotide polymorphism (SNP), rs17824933, located in intron 1. CD6 is a cell surface scavenger ...
    • Thumbnail

      Human Endogenous Retrovirus HERV-Fc1 Association with Multiple Sclerosis Susceptibility: A Meta-Analysis 

      De la Hera, Belén; Varadé, Jezabel; García-Montojo, Marta; Alcina, Antonio; Fedetz, María; Alloza Moral, Iraide; Astobiza Pérez, Janire; Leyva, Laura; Fernández, Óscar; Izquierdo, Guillermo; Rodríguez-Antigüedad Zarranz, Alfredo; Arroyo, Rafael; Álvarez-Lafuente, Roberto; Vandenbroeck, Koen; Matesanz, Fuencisla; Urcelay, Elena (Public Library Science, 2014-03-03)
      Background: Human endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in ...
    • Thumbnail

      Self-Organization and Information Processing: from Basic Enzymatic Activities to Complex Adaptive Cellular Behavior 

      Martínez de la Fuente Martínez, Ildefonso Abel; Martínez Fernández, Luis ORCID; Carrasco Pujante, José; Fedetz, María; López Fernández de Villaverde, José Ignacio ORCID; Malaina Celada, Iker ORCID (Frontiers Media, 2021-05-21)
      One of the main aims of current biology is to understand the origin of the molecular organization that underlies the complex dynamic architecture of cellular life. Here, we present an overview of the main sources of ...
    • Thumbnail

      The nucleus does not significantly affect the migratory trajectories of amoeba in two-dimensional environments 

      Martínez de la Fuente Martínez, Ildefonso Abel; Bringas, Carlos; Malaina Celada, Iker ORCID; Regner, Benjamin; Pérez Samartín, Alberto Luis ORCID; Boyano López, María Dolores ORCID; Fedetz, María; López, Jose I.; Pérez-Yarza Pérez-Irezabal, Gorka ORCID; Cortés, Jesús M.; Sejnowski, Terrence (Springer Nature, 2019-11-08)
      For a wide range of cells, from bacteria to mammals, locomotion movements are a crucial systemic behavior for cellular life. Despite its importance in a plethora of fundamental physiological processes and human pathologies, ...