Article
Phenotypic characterization of murine models of cerebral cavernous malformations.
Laboratory investigation; a journal of technical methods and pathology - 1 Mar 2019
Zeineddine Hussein A, Girard Romuald, Saadat Laleh, Shen Le, Lightle Rhonda, Moore Thomas, Cao Ying, Hobson Nick, Shenkar Robert, Avner Kenneth, Chaudager Kiranj, Koskimäki Janne, Polster Sean P, Fam Maged D, Shi Changbin, Lopez-Ramirez Miguel Alejandro, Tang Alan T, Gallione Carol, Kahn Mark L, Ginsberg Mark, Marchuk Douglas A, Awad Issam A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are clusters of dilated capillaries that affect around 0.5% of the population. CCMs exist in two forms, sporadic and familial. Mutations in three documented genes, KRIT1(CCM1), CCM2, and PDCD10(CCM3), cause the autosomal dominant form of the disease, and somatic mutations in these same genes underlie lesion development in the brain. Murine models with constitutive or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.