Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Hypomorphic heterozygous alleles have been occasionall...

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Autores principales: Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459822/
https://www.ncbi.nlm.nih.gov/pubmed/25870235
http://dx.doi.org/10.15252/emmm.201404399

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