Article
Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice.
The Journal of clinical investigation - 1 May 2011
Chan Aubrey C, Drakos Stavros G, Ruiz Oscar E, Smith Alexandra C H, Gibson Christopher C, Ling Jing, Passi Samuel F, Stratman Amber N, Sacharidou Anastasia, Revelo M Patricia, Grossmann Allie H, Diakos Nikolaos A, Davis George E, Metzstein Mark M, Whitehead Kevin J, Li Dean Y
Abstract excerpt
Cerebral cavernous malformations (CCMs) are a common type of vascular malformation in the brain that are a major cause of hemorrhagic stroke. This condition has been independently linked to 3 separate genes: Krev1 interaction trapped (KRIT1), Cerebral cavernous malformation 2 (CCM2), and Programmed cell death 10 (PDCD10). Despite the commonality in disease pathology caused by mutations in these 3 genes, we found...
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