Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/199286
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease |
Autor: | 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, J.A.; Traboulsee, A.L.; Encarnacion, M.; Bernales, C.Q.; Follett, J.; Yee, I.M.; Criscuoli, M.G.; Deutschländer, A.; Reinthaler, E.M.; Zrzavy, T.; Mascia, E.; Zauli, A.; Esposito, Federica; Alcina, Antonio; Izquierdo, G.; Espino-Paisan, Laura; Mena, J.; Antigüedad, A.; Urbaneja-Romero, P.; Ortega-Pinazo, J.; Song, W.; Sadovnick, A.D. | Fecha de publicación: | 2019 | Editor: | Public Library of Science | Citación: | PLoS Genetics | Resumen: | 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 have been described. We performed whole-exome sequencing analysis in 132 patients from 34 multi-incident families, which nominated likely pathogenic variants for MS in 12 genes of the innate immune system that regulate the transcription and activation of inflammatory mediators. Rare missense or nonsense variants were identified in genes of the fibrinolysis and complement pathways (PLAU, MASP1, C2), inflammasome assembly (NLRP12), Wnt signaling (UBR2, CTNNA3, NFATC2, RNF213), nuclear receptor complexes (NCOA3), and cation channels and exchangers (KCNG4, SLC24A6, SLC8B1). These genes suggest a disruption of interconnected immunological and pro-inflammatory pathways as the initial event in the pathophysiology of familial MS, and provide the molecular and biological rationale for the chronic inflammation, demyelination and neurodegeneration observed in MS patients. | Versión del editor: | http://dx.doi.org/10.1371/journal.pgen.1008180 | URI: | http://hdl.handle.net/10261/199286 | DOI: | 10.1371/journal.pgen.1008180 | Identificadores: | doi: 10.1371/journal.pgen.1008180 issn: 1553-7404 pmid: 31170158 |
Aparece en las colecciones: | (IPBLN) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
Vilarino-guell-2019-Exome-sequencing.pdf | 4,41 MB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
PubMed Central
Citations
28
checked on 16-abr-2024
SCOPUSTM
Citations
43
checked on 24-abr-2024
WEB OF SCIENCETM
Citations
40
checked on 26-feb-2024
Page view(s)
204
checked on 23-abr-2024
Download(s)
130
checked on 23-abr-2024