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EXCEPTIONAL AGGRESSIVENESS OF CEREBRAL CAVERNOUS MALFORMATION DISEASE ASSOCIATED WITH PDCD10 MUTATIONS

PURPOSE: The phenotypic manifestations of cerebral cavernous malformation (CCM) disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase (ROCK) mediated hyperpermeability, a potential therapeutic target, has not been established. METHODS: We...

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Detalles Bibliográficos
Autores principales: Shenkar, Robert, Shi, Changbin, Rebeiz, Tania, Stockton, Rebecca A., McDonald, David A., Mikati, Abdul Ghani, Zhang, Lingjiao, Austin, Cecilia, Akers, Amy L., Gallione, Carol J., Rorrer, Autumn, Gunel, Murat, Min, Wang, De Souza, Jorge Marcondes, Lee, Connie, Marchuk, Douglas A., Awad, Issam A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329119/
https://www.ncbi.nlm.nih.gov/pubmed/25122144
http://dx.doi.org/10.1038/gim.2014.97