ArticleThe New England journal of medicine2021
Somatic
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Article in The New England journal of medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
0numbers the graph read from it
0cells of the map it votes in
74citing papers in PubMed
7.9field-weighted citation impact, top 2% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
74 citing papers in PubMed, 102 citations in OpenAlex.
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- MicroRNA-21-3p regulation of NADPH oxidase 4 and vascular endothelial growth factor A contributes to hemorrhage in cerebral cavernous malformations.Non-coding RNA research · 2026Article
- Modeling meningioma in vitro in the omics era.Human cell · 2026Review
- Multimodal MRI habitat atlas for personalised re-haemorrhage risk prediction in brainstem cavernous malformations.Stroke and vascular neurology · 2026Article
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- Posterior fossa cavernous malformation mimicking meningioma: A case report.Radiology case reports · 2026Article
- Intramedullary Spinal Cord Cavernous Angiomas in Familial Cerebral Cavernous Malformations.Genes · 2026Review
- Human stem cell models in cerebral cavernous malformations.Stem cell research & therapy · 2026Review
- A proteogenomic RNA processing mechanism drives sex differences in meningioma.Research square · 2026Article
- CYP46A1 activation by low-dose efavirenz uncovers the link between brain cholesterol metabolism, energetics, and vasculature.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2026Article
- Towards precision medicine for brain arteriovenous malformations.The Journal of clinical investigation · 2026Review
- TIE2 links MEKK3-KLF2/4 and PI3K signaling in cerebral cavernous malformation.The Journal of experimental medicine · 2026Article
- Knockin expression of human ADAMTS5 impairs cardiovascular development and aggravates cerebral cavernous malformations in mice.Disease models & mechanisms · 2026Article
- Advances in the Genetics and Molecular Biology of Brain Arteriovenous Malformations.Translational stroke research · 2026Review
- MEKK3 bridges gut-brain communication and cerebral cavernous malformation pathogenesis.Cell death discovery · 2026Review
- PI3K/AKT/mTOR axis in vascular malformations: from molecular insights to targeted clinical trials.Orphanet journal of rare diseases · 2025Review
- Integration of artificial intelligence and high-content screening enabled identification of drugs for long-term treatment of cerebral cavernous malformation disease.bioRxiv : the preprint server for biology · 2025Article
- Recurrent somatic copy number alterations in resected cerebral cavernous malformations.Human genomics · 2025Article
- Clinical Significance of Somatic PIK3CA and MAP3K3 Mutations in Cerebral and Spinal Cavernous Malformations.Translational stroke research · 2025Article
14 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 3 institutions in 4 countries.
Matthieu PeyreFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Danielle MiyagishimaFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).ORCID 0000-0003-3257-5469
Franck BielleFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Françoise ChaponFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Michael SierantFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Quitterie VenotFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Julie LerondFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Pauline MarijonFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Samiya Abi-JaoudeFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Tuan Le VanFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Karim LabrecheFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Richard HoulstonFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).ORCID 0000-0002-5268-0242
Maxime FaisantFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Stéphane ClémenceauFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Anne-Laure BochFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Aurelien NouetFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Alexandre CarpentierFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Julien BoettoFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Angeliki LouviFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).ORCID 0000-0003-1737-8707
Michel KalamaridesFrom the Departments of Neurosurgery (M.P., S.C., A.-L.B., A.N., A.C., M.K.) and Neuropathology (F.B.), Sorbonne Université, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Pitié-Salpêtrière, INSERM Unité 1127, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7225, Paris Brain Institute (M.P., F.B., J.L., P.M., S.A.-J., T.L.V., K.L., J.B., M.K.), and INSERM Unité 1151-Institut Necker Enfants Malades, Hôpital Necker Enfants Malades, AP-HP (Q.V.), Paris, and the Department of Pathology, Centre Hospitalier Régional Universitaire (CHRU) Caen-INSERM Unité 1075 COMETE, Caen University (F.C.), and the Department of Pathology CHRU Caen-INSERM Unité Mixte de Recherche en Santé Unité 1237, Cyceron (M.F.), Caen - all in France; the Departments of Genetics (D.M., M.S.) and Neurosurgery and Neuroscience (A.L.), Yale School of Medicine, New Haven, CT; and the Division of Genetics and Epidemiology, Institute of Cancer Research, Sutton, United Kingdom (K.L., R.H.).
Inserm · FRInstitute of Cancer Research · GBHôpital Necker-Enfants Malades · FR
Funding
Candidate Pharmacological Therapies for Cerebral Carvernous MalformationsR21NS105001 · NINDS · YALE UNIVERSITY · PI LOUVI, ANGELIKI · 2018 to 2019
$461kNINDS NIH HHS R21 NS105001
Abstract
backgroundCerebral 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
methodsWe developed two mouse models harboring mutations identified in human meningiomas with the use of the prostaglandin D2 synthase (PGDS) promoter. We performed targeted DNA sequencing of surgically resected CCMs from patients and confirmed our findings by droplet digital polymerase-chain-reaction analysis.
resultsWe found that in mice expressing one of two common genetic drivers of meningioma -
conclusionsIn tissue samples from sporadic CCMs, mutations in
Indexed as
MutationAnimalsClass I Phosphatidylinositol 3-KinasesDisease Models, AnimalFemaleHumansIntracranial Arteriovenous MalformationsKRIT1 ProteinMaleMeningiomaMiceMice, Inbred StrainsProto-Oncogene Proteins c-aktAKT1 protein, humanAkt1 protein, mouseClass I Phosphatidylinositol 3-KinasesKRIT1 ProteinPIK3CA protein, humanPik3ca protein, mouseProto-Oncogene Proteins c-akt
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.