Article
A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.
Human molecular genetics - 15 Jan 2011
McDonald David A, Shenkar Robert, Shi Changbin, Stockton Rebecca A, Akers Amy L, Kucherlapati Melanie H, Kucherlapati Raju, Brainer James, Ginsberg Mark H, Awad Issam A, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system appearing as multicavernous, blood-filled capillaries, leading to headache, seizure and hemorrhagic stroke. CCM occurs either sporadically or as an autosomal dominant disorder caused by germline mutation of one of the three genes: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Surgically resected human CCM lesions have provided...
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