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Recent insights into cerebral cavernous malformations: the molecular genetics of CCM. 2010

Florence Riant, and Francoise Bergametti, and Xavier Ayrignac, and Gwenola Boulday, and Elisabeth Tournier-Lasserve
AP-HP, Hôpital Lariboisière, Laboratoire de Génétique, Paris, France.

Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes. Recent work has shown that a two-hit mechanism is involved in CCM pathogenesis which is caused by a complete loss of any of the three CCM proteins within endothelial cells lining the cavernous capillary cavities. These data were an important step towards the elucidation of the mechanisms of this condition.

UI MeSH Term Description Entries
D008869 Microtubule-Associated Proteins High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules. Ensconsin,Epithelial MAP, 115 kDa,Epithelial Microtubule-Associate Protein, 115 kDa,MAP4,Microtubule Associated Protein,Microtubule Associated Protein 4,Microtubule Associated Protein 7,Microtubule-Associated Protein,Microtubule-Associated Protein 7,E-MAP-115,MAP1 Microtubule-Associated Protein,MAP2 Microtubule-Associated Protein,MAP3 Microtubule-Associated Protein,Microtubule Associated Proteins,Microtubule-Associated Protein 1,Microtubule-Associated Protein 2,Microtubule-Associated Protein 3,7, Microtubule-Associated Protein,Associated Protein, Microtubule,E MAP 115,Epithelial Microtubule Associate Protein, 115 kDa,MAP1 Microtubule Associated Protein,MAP2 Microtubule Associated Protein,MAP3 Microtubule Associated Protein,Microtubule Associated Protein 1,Microtubule Associated Protein 2,Microtubule Associated Protein 3,Microtubule-Associated Protein, MAP1,Microtubule-Associated Protein, MAP2,Microtubule-Associated Protein, MAP3,Protein 7, Microtubule-Associated,Protein, Microtubule Associated,Protein, Microtubule-Associated
D011518 Proto-Oncogene Proteins Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity. Cellular Proto-Oncogene Proteins,c-onc Proteins,Proto Oncogene Proteins, Cellular,Proto-Oncogene Products, Cellular,Cellular Proto Oncogene Proteins,Cellular Proto-Oncogene Products,Proto Oncogene Products, Cellular,Proto Oncogene Proteins,Proto-Oncogene Proteins, Cellular,c onc Proteins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000075927 KRIT1 Protein A microtubule-associated protein consisting of four ANKYRIN REPEATS and a C-terminal FERM DOMAIN. It links the CYTOSKELETON to CELL JUNCTIONS via integrin cytoplasmic domain-associated protein-1 and plays an important role in regulating cell proliferation and integrity of endothelial cell junctions. It is also involved in REACTIVE OXYGEN SPECIES metabolism. Mutations in the KRIT1 gene are associated with type I CEREBRAL CAVERNOUS MALFORMATIONS. Cerebral Cavernous Malformations 1 Protein,Krev Interaction Trapped Protein 1
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic
D020786 Hemangioma, Cavernous, Central Nervous System A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit. Cavernous Hemangioma, Central Nervous System,Cerebral Cavernous Hemangioma,Cavernous Angioma, Central Nervous System,Cavernous Angioma, Familial,Cavernous Angiomatous Malformations,Cavernous Hemangioma of Brain,Cavernous Hemangioma, Extracerebral,Cavernous Hemangioma, Intracerebral,Central Nervous System Cavernous Hemangioma,Cerebral Capillary Malformations,Cerebral Cavernous Malformation,Cerebral Cavernous Malformations,Familial Cavernous Malformation,Intracerebral Cavernous Hemangioma,Angioma, Familial Cavernous,Angiomas, Familial Cavernous,Angiomatous Malformation, Cavernous,Angiomatous Malformations, Cavernous,Brain Cavernous Hemangioma,Brain Cavernous Hemangiomas,Capillary Malformation, Cerebral,Capillary Malformations, Cerebral,Cavernous Angiomas, Familial,Cavernous Angiomatous Malformation,Cavernous Hemangioma, Cerebral,Cavernous Hemangiomas, Cerebral,Cavernous Hemangiomas, Extracerebral,Cavernous Hemangiomas, Intracerebral,Cavernous Malformation, Cerebral,Cavernous Malformation, Familial,Cavernous Malformations, Cerebral,Cavernous Malformations, Familial,Cerebral Capillary Malformation,Cerebral Cavernous Hemangiomas,Extracerebral Cavernous Hemangioma,Extracerebral Cavernous Hemangiomas,Familial Cavernous Angioma,Familial Cavernous Angiomas,Familial Cavernous Malformations,Hemangioma, Cerebral Cavernous,Hemangioma, Extracerebral Cavernous,Hemangioma, Intracerebral Cavernous,Hemangiomas, Cerebral Cavernous,Hemangiomas, Extracerebral Cavernous,Hemangiomas, Intracerebral Cavernous,Intracerebral Cavernous Hemangiomas,Malformation, Cavernous Angiomatous,Malformation, Cerebral Capillary,Malformation, Cerebral Cavernous,Malformation, Familial Cavernous,Malformations, Cavernous Angiomatous,Malformations, Cerebral Capillary,Malformations, Cerebral Cavernous,Malformations, Familial Cavernous

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