Article
Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells.
Cells - 22 Mar 2021
Riolo Giulia, Ricci Claudia, Battistini Stefania
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of multiple lesions throughout the patient's lif...
Topics
- Apoptosis Regulatory Proteins
- Brain
- Carrier Proteins
- Central Nervous System Vascular Malformations
- Endothelial Cells
- Genetic Predisposition to Disease
- Humans
- KRIT1 Protein
- Membrane Proteins
- Mutation
- Phenotype
- Proto-Oncogene Proteins
- Signal Transduction