Ontology highlight
ABSTRACT:
SUBMITTER: Pagenstecher A
PROVIDER: S-EPMC2640205 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
Pagenstecher Axel A Stahl Sonja S Sure Ulrich U Felbor Ute U
Human molecular genetics 20081216 5
Cavernous vascular malformations occur with a frequency of 1:200 and can cause recurrent headaches, seizures and hemorrhagic stroke if located in the brain. Familial cerebral cavernous malformations (CCMs) have been associated with germline mutations in CCM1/KRIT1, CCM2 or CCM3/PDCD10. For each of the three CCM genes, we here show complete localized loss of either CCM1, CCM2 or CCM3 protein expression depending on the inherited mutation. Cavernous but not adjacent normal or reactive endothelial ...[more]