Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations

Natural History of Spinal Cord Cavernous Malformations: A Multicenter Cohort Study

(2022) Jian Ren et al.   NEUROSURGERY

Simplex cerebral cavernous malformations with MAP3K3 mutation have distinct clinical characteristics

(2022) Ran Huo et al.   Frontiers in Neurology

Caveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model

(2021) Huanjiao Jenny Zhou et al.   Nature Communications

Selective endothelial hyperactivation of oncogenic KRAS induces brain arteriovenous malformations in mice

(2021) Eun S. Park et al.   ANNALS OF NEUROLOGY

Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation

(2021) Jiancong Weng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations

(2021) Tao Hong et al.   BRAIN

PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism

(2021) Aileen A. Ren et al.   NATURE

Cerebral Cavernous Malformation: From Mechanism to Therapy

(2021) Daniel A. Snellings et al.   CIRCULATION RESEARCH

Somatic PIK3CA Mutations in Sporadic Cerebral Cavernous Malformations

(2021) Matthieu Peyre et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Gain of KRAS Function in the Endothelium is Sufficient to Cause Vascular Malformations that Require MEK but not PI3K Signaling

(2020) Jason E Fish et al.   CIRCULATION RESEARCH

Familial Cerebral Cavernous Malformations

(2019) Atif Zafar et al.   STROKE

CDC42 Deletion Elicits Cerebral Vascular Malformations via Increased MEKK3-Dependent KLF4 Expression

(2019) Marco Castro et al.   CIRCULATION RESEARCH

Cranial Cavernous Malformations

(2018) Christopher J. Stapleton et al.   STROKE

Control of occlusion of middle cerebral artery in perinatal and neonatal mice with magnetic force

(2018) Jie-Min Jia et al.   Molecular Brain

High prevalence of KRAS/BRAF somatic mutations in brain and spinal cord arteriovenous malformations

(2018) Tao Hong et al.   BRAIN

Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease

(2018) Muhammad O. Chohan et al.   JAMA Neurology

Vascular permeability and iron deposition biomarkers in longitudinal follow-up of cerebral cavernous malformations

(2017) Romuald Girard et al.   JOURNAL OF NEUROSURGERY

Endothelial TLR4 and the microbiome drive cerebral cavernous malformations

(2017) Alan T. Tang et al.   NATURE

Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel

(2017) Amy Akers et al.   NEUROSURGERY

Population-Based Prevalence of Cerebral Cavernous Malformations in Older Adults

(2017) Kelly D. Flemming et al.   JAMA Neurology

A brain microvasculature endothelial cell‐specific viral vector with the potential to treat neurovascular and neurological diseases

(2016) Jakob Körbelin et al.   EMBO Molecular Medicine

Cerebral cavernous malformations arise from endothelial gain of MEKK3–KLF2/4 signalling

(2016) Zinan Zhou et al.   NATURE

Endothelial exocytosis of angiopoietin-2 resulting from CCM3 deficiency contributes to cerebral cavernous malformation

(2016) Huanjiao Jenny Zhou et al.   NATURE MEDICINE

Control of cerebral ischemia with magnetic nanoparticles

(2016) Jie-Min Jia et al.   NATURE METHODS

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

(2016) Sandra D. Castillo et al.   Science Translational Medicine

KLF4 is a key determinant in the development and progression of cerebral cavernous malformations

(2015) R. Cuttano et al.   EMBO Molecular Medicine

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects

(2015) Elisa Boscolo et al.   JOURNAL OF CLINICAL INVESTIGATION

Regional Blood Flow in the Normal and Ischemic Brain Is Controlled by Arteriolar Smooth Muscle Cell Contractility and Not by Capillary Pericytes

(2015) Robert A. Hill et al.   NEURON

Structure and vascular function of MEKK3–cerebral cavernous malformations 2 complex

(2015) Oriana S. Fisher et al.   Nature Communications

Amino Acid Activation of mTORC1 by a PB1-Domain-Driven Kinase Complex Cascade

(2015) Juan F. Linares et al.   Cell Reports

Surgical outcomes and natural history of intramedullary spinal cord cavernous malformations: a single-center series and meta-analysis of individual patient data

(2014) Jetan H. Badhiwala et al.   JOURNAL OF NEUROSURGERY-SPINE

EndMT contributes to the onset and progression of cerebral cavernous malformations

(2013) Luigi Maddaluno et al.   NATURE

Characterization of Pdgfrb-Cre transgenic mice reveals reduction of ROSA26 reporter activity in remodeling arteries

(2011) Anne S. Cuttler et al.   GENESIS

Pericytes regulate the blood–brain barrier

(2010) Annika Armulik et al.   NATURE

Pericytes are required for blood–brain barrier integrity during embryogenesis

(2010) Richard Daneman et al.   NATURE

The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

(2009) Kevin J Whitehead et al.   NATURE MEDICINE

A robust and high-throughput Cre reporting and characterization system for the whole mouse brain

(2009) Linda Madisen et al.   NATURE NEUROSCIENCE

Cavernous malformations: natural history, diagnosis and treatment

(2009) Sachin Batra et al.   Nature Reviews Neurology

Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

(2008) Amy L. Akers et al.   HUMAN MOLECULAR GENETICS

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE