Article
Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2015
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
Abstract excerpt
PURPOSE: The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has not been established. METHODS: We analyzed PDCD10 small interfering RNA-treated endothelial cells for stress fibers, Rho kinase activity, and permeability. Rho...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.