Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cog...
Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
About this item
Full title
Author / Creator
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 and Fernández-Cadenas, Israel
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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 characteristically impaired. The molecular pathway...
Alternative Titles
Full title
Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_4a49c263a9844e49ac363edfee1aa85e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4a49c263a9844e49ac363edfee1aa85e
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-021-86349-1
