Article
Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations.
The New England journal of medicine - 9 Sept 2021
Peyre Matthieu, Miyagishima Danielle, Bielle Franck, Chapon Françoise, Sierant Michael, Venot Quitterie, Lerond Julie, Marijon Pauline, Abi-Jaoude Samiya, Le Van Tuan, Labreche Karim, Houlston Richard, Faisant Maxime, Clémenceau Stéphane, Boch Anne-Laure, Nouet Aurelien, Carpentier Alexandre, Boetto Julien, Louvi Angeliki, Kalamarides Michel
Abstract excerpt
BACKGROUND: Cerebral cavernous malformations (CCMs) are common sporadic and inherited vascular malformations of the central nervous system. Although familial CCMs are linked to loss-of-function mutations in KRIT1 (CCM1), CCM2, or PDCD10 (CCM3), the genetic cause of sporadic CCMs, representing 80% of cases, remains incompletely understood. METHODS: We developed two mouse models harboring mutations identified in...
Topics
- Animals
- Class I Phosphatidylinositol 3-Kinases
- Disease Models, Animal
- Female
- Humans
- Intracranial Arteriovenous Malformations
- KRIT1 Protein
- Male
- Meningioma