Associated Papers
In-silico analysis of nonsynonymous genomic variants within CCM2 gene reaffirm the existence of dual cores within typical PTB domain.
Padarti A et al.
Biochemistry and Biophysics Reports, 2022
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.
Ishii K et al.
Medicine, 2020
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations.
Bergametti F et al.
Journal of Medical Genetics, 2020
Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
Fisher OS et al.
The Journal of Biological Chemistry, 2015
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformations.
Schröder W et al.
Neurosurgical Review, 2014
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions.
Riant F et al.
Neurogenetics, 2013
Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management.
Bacigaluppi S et al.
Clinical Genetics, 2013
Cerebral cavernous malformation is a vascular disease associated with activated RhoA signaling.
Richardson BT et al.
Biological Chemistry, 2013
CCM2 gene polymorphisms in Italian sporadic patients with cerebral cavernous malformation: a case-control study.
D'Angelo R et al.
International Journal of Molecular Medicine, 2012
Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management.
Haasdijk RA et al.
European Journal of Human Genetics : Ejhg, 2012
Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S et al.
Journal of Molecular Neuroscience : Mn, 2010
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Stahl S et al.
Human Mutation, 2008
Cerebral cavernous malformation: new molecular and clinical insights.
Revencu N et al.
Journal of Medical Genetics, 2006
Cerebral cavernous malformations: clinical insights from genetic studies.
Mindea SA et al.
Neurosurgical Focus, 2006
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis.
Zawistowski JS et al.
Human Molecular Genetics, 2005
Mutations within the MGC4607 gene cause cerebral cavernous malformations.
Denier C et al.
American Journal of Human Genetics, 2004