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Autophagic Marker MAP1LC3B Expression Levels Are Associated with Carotid Atherosclerosis Symptomatology

Swaminathan, Bhairavi; Goikuria Iriondo, Haize; Vega, Reyes; Rodríguez-Antigüedad Zarranz, Alfredo; López Medina, Antonio; Freijo, María del Mar; Vandenbroeck, Koen; Alloza Moral, Iraide (Public Library Science, 2014-12-12)

Objectives: The mechanism by which atheroma plaque becomes unstable is not completely understood to date but analysis of differentially expressed genes in stable versus unstable plaques may provide clues. This will be ...

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 ...

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 ...

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, Oscar; 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) ...

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

Vilariño Güell, Carles; Zimprich, Alexander; Martinelli Boneschi, Filippo; Herculano, Bruno; Wang, Zhe; Matesanz, Fuencisla; Urcelay, Elena; Vandenbroeck, Koen; Leyva, Laura; Gris, Denis; Massaad, Charbel; Quandt, Jacqueline A.; Traboulsee, Anthony L.; Encarnacion, Mary; Bernales, Cecily Q.; Follett, Jordan; Yee, Irene M.; Criscuoli, Maria G.; Deutschlander, Angela; Reinthaler, Eva M.; Zrzavy, Tobias; Mascia, Elisabetta; Zauli, Andrea; Esposito, Federica; Alcina, Antonio; Izquierdo, Guillermo; Espino Paisan, Laura; Mena Lucía, Jorge; Rodríguez-Antigüedad Zarranz, Alfredo; Urbaneja Romero, Patricia; Ortega Pinazo, Jesús; Song, Weihong; Sadovnick, A. Dessa (Public Library Science 15(6) : (2019) // Article ID e1008180, 2019-06-06)

Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms ...