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...
Topics
- Animals
- Breeding
- Disease Models, Animal
- Endothelial Cells
- Genotype
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Mice
- Mice, Knockout
- Microtubule-Associated Proteins
- MutS Homolog 2 Protein
- Mutation