ArticleBioMed research international2013
Sporadic cerebral cavernous malformations: report of further mutations of CCM genes in 40 Italian patients.
Article in BioMed research international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Can Hemorrhagic Stroke Genetics Help Forensic Diagnosis in Pediatric Age (<5 Years Old)?Genes · 2024Pooled it
- Cerebral cavernous malformations: epidemiology, molecular pathogenesis, diagnosis and therapy.Molecular biomedicine · 2026Review
- NOGOB receptor deficiency increases cerebrovascular permeability and hemorrhage via impairing histone acetylation-mediated CCM1/2 expression.The Journal of clinical investigation · 2022Article
- Cerebral Cavernous Malformation Pathogenesis: Investigating Lesion Formation and Progression with Animal Models.International journal of molecular sciences · 2022Review
- Article
- SomaticThe New England journal of medicine · 2021Article
- The exosomal transfer of human bone marrow mesenchymal stem cell-derived miR-1913 inhibits osteosarcoma progression by targeting NRSN2.American journal of translational research · 2021Article
- Signalling through cerebral cavernous malformation protein networks.Open biology · 2020Review
- Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report.Medicine · 2020Article
- A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation.Frontiers in neurology · 2020Article
- Two NovelFrontiers in neurology · 2018Article
- Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.Journal of molecular neuroscience : MN · 2017Article
- A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.Journal of molecular neuroscience : MN · 2017Article
- Magnetic Resonance (MR) Imaging of Vascular Malformations.Polish journal of radiology · 2017Review
- Introduction to cerebral cavernous malformation: a brief review.BMB reports · 2016Review
- Genetics of cerebral cavernous malformations: current status and future prospects.Journal of neurosurgical sciences · 2015Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities, affecting the central nervous system. CCMs can occur sporadically or as a familial autosomal dominant condition with incomplete penetrance and variable clinical expression attributable to mutations in three different genes: CCM1 (K-Rev interaction trapped 1 (KRIT1)), CCM2 (MGC4607), and CCM3 (PDCD10). CCMs occur as a single or multiple malformations that can lead to seizures, focal neurological deficits, hemorrhagic stroke, and headache. However, patients are frequently asymptomatic. In our previous mutation screening, performed in a cohort of 95 Italian patients, both sporadic and familial, we have identified several mutations in CCM genes, three of which in three distinct sporadic patients. In this study, representing further molecular screening of the three CCM genes, in a south Italian cohort of CCM patients enrolled by us in the last three years, we report the identification of other four new mutations in 40 sporadic patients with either single or multiple CCM.
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