Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment

CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function charac...

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Detalles Bibliográficos
Autores principales: Muiño, Elena, Maisterra, Olga, Jiménez-Balado, Joan, Cullell, Natalia, Carrera, Caty, Torres-Aguila, Nuria P., Cárcel-Márquez, Jara, Gallego-Fabrega, Cristina, Lledós, Miquel, González-Sánchez, Jonathan, Olmos-Alpiste, Ferran, Espejo, Eva, March, Álvaro, Pujol, Ramón, Rodríguez-Campello, Ana, Romeral, Gemma, Krupinski, Jurek, Martí-Fàbregas, Joan, Montaner, Joan, Roquer, Jaume, Fernández-Cadenas, Israel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994794/
https://www.ncbi.nlm.nih.gov/pubmed/33767277
http://dx.doi.org/10.1038/s41598-021-86349-1

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