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

Abstract 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 functi...

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Hlavní autoři:	Elena Muiño, Olga Maisterra, Joan Jiménez-Balado, Natalia Cullell, Caty Carrera, Nuria P. Torres-Aguila, Jara Cárcel-Márquez, Cristina Gallego-Fabrega, Miquel Lledós, Jonathan González-Sánchez, Ferran Olmos-Alpiste, Eva Espejo, Álvaro March, Ramón Pujol, Ana Rodríguez-Campello, Gemma Romeral, Jurek Krupinski, Joan Martí-Fàbregas, Joan Montaner, Jaume Roquer, Israel Fernández-Cadenas
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2021-03-01
Edice:	Scientific Reports
On-line přístup:	https://doi.org/10.1038/s41598-021-86349-1
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