期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 73, 期 6, 页码 1459-1464出版社
UNIV CHICAGO PRESS
DOI: 10.1086/380314
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资金
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS043543] Funding Source: NIH RePORTER
- NINDS NIH HHS [R01 NS043543, NS43543] Funding Source: Medline
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2). MGC4607, similar to the KRIT1 binding partner ICAP1alpha, encodes a protein with a phosphotyrosine-binding domain. This protein may be part of the complex pathway of integrin signaling that, when perturbed, causes abnormal vascular morphogenesis in the brain, leading to CCM formation.
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