Genetics of cerebral cavernous malformations

被引：48
|
作者：
Plummer N.W. [1 ]
Zawistowski J.S. [1 ]
Marchuk D.A. [1 ]
机构：
[1] Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710
来源：
Current Neurology and Neuroscience Reports | 2005年 / 5卷 / 5期
关键词：
Cavernous Malformation; Cavernous Angioma; Cerebral Cavernous Malformation; Cerebral Cavernous Malformation; Cavernous Malforma;
D O I：
10.1007/s11910-005-0063-7
中图分类号：
学科分类号：
摘要：
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 indicates a role for that protein in arterial development. Future studies will probably focus on integration of data from each of the three CCM genes into a single model of the pathogenesis of cavernous malformation. Copyright © 2005 by Current Science Inc.
引用
收藏
页码：391 / 396
页数：5
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