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Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

by Carpentier, Alexandre , Lerond, Julie , Bielle, Franck , Faisant, Maxime , Marijon, Pauline , Houlston, Richard , Chapon, Françoise , Peyre, Matthieu , Boetto, Julien , Clémenceau, Stéphane , Louvi, Angeliki , Abi-Jaoude, Samiya , Boch, Anne-Laure , Kalamarides, Michel , Sierant, Michael , Miyagishima, Danielle , Venot, Quitterie , Le Van, Tuan , Labreche, Karim , Nouet, Aurelien

in Age / AKT1 protein / Animal models / Animals / Brain cancer / Brain Tumor / CCM2 protein / Central nervous system / Class I Phosphatidylinositol 3-Kinases / Class I Phosphatidylinositol 3-Kinases - genetics / Disease Models, Animal / DNA sequencing / Female / Genetic testing / Genetics / Humans / Intracranial Arteriovenous Malformations / Intracranial Arteriovenous Malformations - genetics / Intracranial Arteriovenous Malformations - pathology / Kinases / KRIT1 Protein / KRIT1 Protein - genetics / Lesions / Life Sciences / Male / Meningioma / Meningioma - genetics / Mice / Mice, Inbred Strains / Mutation / Nervous system / Neurology / Neurons and Cognition / Neuroscience / Neurosurgery / Neurosurgery General / Patients / Polymerase chain reaction / Prostaglandin D2 / Prostaglandin D2 synthase / Proto-Oncogene Proteins c-akt / Proto-Oncogene Proteins c-akt - genetics / Tumors

2021

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Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

2021

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Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

2021

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Journal Article

Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

Carpentier, Alexandre,

Lerond, Julie,

Bielle, Franck,

Faisant, Maxime,

Marijon, Pauline,

Houlston, Richard,

Chapon, Françoise,

Peyre, Matthieu,

Boetto, Julien,

Clémenceau, Stéphane,

Louvi, Angeliki,

Abi-Jaoude, Samiya,

Boch, Anne-Laure,

Kalamarides, Michel,

Sierant, Michael,

Miyagishima, Danielle,

Venot, Quitterie,

Le Van, Tuan,

Labreche, Karim,

Nouet, Aurelien

2021

Overview

Although their intention was to create a model of meningioma, investigators instead observed the development of cerebral cavernous malformations in their engineered mice, prompting them to test the implicated genes in patients with these malformations.

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Publisher

Massachusetts Medical Society

Subject

/ Animals