Genetics of cerebral cavernous malformations.

@article{Plummer2005GeneticsOC,
  title={Genetics of cerebral cavernous malformations.},
  author={Nicholas W. Plummer and Jon S. Zawistowski and Douglas A. Marchuk},
  journal={Current neurology and neuroscience reports},
  year={2005},
  volume={5 5},
  pages={391-6}
}
The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM). This article summarizes the recent cloning of the CCM1, CCM2, and CCM3 genes, which are responsible for autosomal dominant CCM, and also describes current hypotheses for their roles in integrin and p38 mitogen-activated protein kinase- mediated regulation of angiogenesis. A mouse model of CCM has been generated by mutation of the Ccm1 gene, and it… CONTINUE READING

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