Which genes have been associated with Cerebral Cavernous Malformation?
['Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene', 'we outline a consistent association between PDCD10 mutations and a syndrome of CCMs with multiple meningiomas', 'Cerebral cavernous malformation (CCM) is a disease of vascular malformations known to be caused by mutations in one of three genes: CCM1, CCM2 or CCM3', 'To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients.METHODS: We analyzed the CCM1, CCM2, and CCM3 genes', 'Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs)', 'Surveying genetic variants and molecular phylogeny of cerebral cavernous malformation gene, CCM3/PDCD10', 'The three cerebral cavernous malformations (CCMs) genes namely CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 have been identified for which mutations cause cerebral cavernous malformations', 'At least 45% of families affected with cerebral cavernous malformations harbour a mutation in Krev interaction trapped-1 (Krit1) gene (cerebral cavernous malformation gene-1, CCM1).', 'Mutations in Krev1 interaction trapped gene 1 (KRIT1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cerebral capillaries resulting in cerebral hemorrhage, strokes, and seizures.', 'KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.', 'Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations.', 'Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.', 'Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.', 'These findings document a de novo germline mutation in Kritl gene that causes cerebral cavernous malformations.', 'Cerebral cavernous malformation is a common human vascular disease that arises due to loss-of-function mutations in genes encoding three intracellular adaptor proteins, cerebral cavernous malformations 1 protein (CCM1), CCM2, and CCM3.', 'Cerebral cavernous malformation is a common human vascular disease that arises due to loss-of-function mutations in genes encoding three intracellular adaptor proteins, cerebral cavernous malformations 1 protein (CCM1), CCM2, and CCM3', 'Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).', 'Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.', 'Loss-of-function mutations in CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations (CCMs).', 'Mutations in three genes are associated with CCM. These genes encode for the proteins KRIT1/CCM1 (krev interaction trapped 1/cerebral cavernous malformations 1), cerebral cavernous malformations 2, osmosensing scaffold for MEKK3 (CCM2/malcavernin/OSM), and cerebral cavernous malformations 3/programmed cell death 10 (CCM3/PDCD10).', 'At least 45% of families affected with cerebral cavernous malformations harbour a mutation in Krev interaction trapped-1 (Krit1) gene (cerebral cavernous malformation gene-1,', 'Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.', 'A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations.', 'These genes encode for the proteins KRIT1/CCM1 (krev interaction trapped 1/cerebral cavernous malformations 1), cerebral cavernous malformations 2, osmosensing scaffold for MEKK3 (CCM2/malcavernin/OSM), and cerebral cavernous malformations 3/programmed cell death 10 (CCM3/PDCD10).', 'CCM1 is caused by a mutation in the KRIT1 gene and CCM2 is caused by a mutation in the MGC4607 gene, while the gene for CCM3 is not yet identified.', 'Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).', 'At least 45% of families affected with cerebral cavernous malformations harbour a mutation in Krev interaction trapped-1 (Krit1) gene (cerebral cavernous malformation gene-1, CCM1).', 'KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein.']
['Loss-of-function mutations in genes encoding CCM1 (also known as KRIT1), CCM2 (also known as OSM and malcavernin) or CCM3 (also known as PDCD10) cause cerebral cavernous malformations (CCMs).']
['CCM1/KRIT1', 'CCM2/OSM/Malcavernin', 'CCM3/PDCD10']