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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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發表在:EMBO Mol Med
Main Authors: 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
格式: Artigo
語言:Inglês
出版: BlackWell Publishing Ltd 2015
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4459822/
https://ncbi.nlm.nih.gov/pubmed/25870235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201404399
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