Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis-Reference-Cited by-同舟云学术

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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

Published:2008-12-16 Issue:5 Volume:18 Page:919-930
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Akers Amy L.,Johnson Eric,Steinberg Gary K.,Zabramski Joseph M.,Marchuk Douglas A.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/18/5/919/17249086/ddn430.pdf

Reference50 articles.

1. Cerebral cavernous malformations. Incidence and familial occurrence;Rigamonti;N. Engl. J. Med.,1988

2. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance;Gault;Neurosurgery,2004

3. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations;Clatterbuck;J. Neurol. Neurosurg. Psychiatry.,2001

4. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas;Laberge-le Couteulx;Nat. Genet.,1999

5. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1);Sahoo;Hum. Mol. Genet.,1999

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1. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations;Journal of Stroke and Cerebrovascular Diseases;2024-11

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