Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution.
Neurosurg Focus
; 29(3): E4, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20809762
ABSTRACT
Tremendous insight into the molecular and genetic pathogenesis of cerebral cavernous malformations (CCMs) has been gained over the past 2 decades. This includes the identification of 3 distinct genes involved in familial CCMs. Still, a number of unanswered questions regarding the process from gene mutation to vascular malformation remain. It is becoming more evident that the disruption of interendothelial junctions and ensuing vascular hyperpermeability play a principal role. The purpose of this review is to summarize the current understanding of CCM genes, associated proteins, and functional pathways. Promising molecular and genetic therapies targeted at identified molecular aberrations are discussed as well.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Permeabilidade Capilar
/
Hemangioma Cavernoso do Sistema Nervoso Central
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Neurosurg Focus
Assunto da revista:
NEUROCIRURGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Estados Unidos