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

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 pati...

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Veröffentlicht in:	PLoS genetics 2019-06, Vol.15 (6), p.e1008180
Hauptverfasser:	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, Deutschländer, Angela, Reinthaler, Eva M, Zrzavy, Tobias, Mascia, Elisabetta, Zauli, Andrea, Esposito, Federica, Alcina, Antonio, Izquierdo, Guillermo, Espino-Paisán, Laura, Mena, Jorge, Antigüedad, Alfredo, Urbaneja-Romero, Patricia, Ortega-Pinazo, Jesús, Song, Weihong, Sadovnick, A Dessa
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biology and Life Sciences Central nervous system Codon, Nonsense Collaboration Complement component C2 Computer and Information Sciences Demyelinating Diseases - genetics Demyelinating Diseases - pathology Demyelination Development and progression Disease Exome - genetics Exome sequencing Family Female Fibrinolysis Funding Genes Genetic aspects Genetic Predisposition to Disease Genetics Health aspects Hospitals Humans Identification and classification Immune system Immunology Inflammasomes Inflammation Inflammation - genetics Inflammation - metabolism Inflammation - pathology Inflammatory diseases Innate immunity Laboratories Male MASP-1 protein Medicine and Health Sciences Methods Middle Aged Multiple sclerosis Multiple Sclerosis - genetics Multiple Sclerosis - metabolism Multiple Sclerosis - pathology Myelin Myelin Sheath - genetics Myelin Sheath - pathology Nerve Degeneration - genetics Nerve Degeneration - pathology Neurodegeneration Neurological disorders Neurology Neurons Neurons - metabolism Neurons - pathology Neurosciences Pedigree Psychiatry Research and Analysis Methods Supervision Transcription (Genetics) Transcription activation Transcriptome - genetics Whole Exome Sequencing Wnt protein Young Adult
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