Article
Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations.
Disease models & mechanisms - 1 Jan 2000
Boulday Gwénola, Blécon Anne, Petit Nathalie, Chareyre Fabrice, Garcia Luis A, Niwa-Kawakita Michiko, Giovannini Marco, Tournier-Lasserve Elisabeth
Abstract excerpt
Cerebral cavernous malformations (CCM) are vascular malformations of the brain that lead to cerebral hemorrhages. In 20% of CCM patients, this results from an autosomal dominant condition caused by loss-of-function mutations in one of the three CCM genes. High expression levels of the CCM genes in the neuroepithelium indicate that CCM lesions might be caused by a loss of function of these genes in neural cells...
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