Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

(2012) Lorena Mosca et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Protecting against vascular disease in brain

(2011) Frank M. Faraci   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease

(2011) Bilge Yoruk et al.   DEVELOPMENTAL BIOLOGY

Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice

(2011) Aubrey C. Chan et al.   JOURNAL OF CLINICAL INVESTIGATION

Brain Arteriovenous Malformations Are Associated With Interleukin-1 Cluster Gene Polymorphisms

(2011) Marco Fontanella et al.   NEUROSURGERY

Loss ofcerebral cavernous malformation 3(Ccm3) in neuroglia leads to CCM and vascular pathology

(2011) Angeliki Louvi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fasudil Decreases Lesion Burden in a Murine Model of Cerebral Cavernous Malformation Disease

(2011) David A. McDonald et al.   STROKE

Cerebral cavernous malformations and intractable epilepsy: the limited usefulness of current literature

(2010) C. von der Brelie et al.   ACTA NEUROCHIRURGICA

Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation

(2010) Rosalia D'Angelo et al.   BRAIN PATHOLOGY

Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype

(2010) Aubrey C. Chan et al.   FEBS Journal

Recent insights into cerebral cavernous malformations

(2010) Eva Faurobert   FEBS Journal

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM

(2010) Florence Riant et al.   FEBS Journal

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease

(2010) D. A. McDonald et al.   HUMAN MOLECULAR GENETICS

Magnetic resonance diffusion tensor imaging and tractography of intracranial cavernous malformations: preliminary observations and characterization of the hemosiderin rim

(2010) Keith A. Cauley et al.   JOURNAL OF NEUROSURGERY

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3

(2010) Elisa Schleider et al.   NEUROGENETICS

Interleukin-1 Cluster Gene Polymorphisms and Aneurysmal Subarachnoid Hemorrhage

(2010) Marco Fontanella et al.   NEUROSURGERY

Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution

(2010) Sanjay Yadla et al.   Neurosurgical Focus

Update on the natural history of cavernous malformations and factors predicting aggressive clinical presentation

(2010) Chad W. Washington et al.   Neurosurgical Focus

Emerging clinical imaging techniques for cerebral cavernous malformations: a systematic review

(2010) Peter G. Campbell et al.   Neurosurgical Focus

KRIT1 Regulates the Homeostasis of Intracellular Reactive Oxygen Species

(2010) Luca Goitre et al.   PLoS One

Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling

(2010) Joycelyn Wüstehube et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype

(2009) T.A. Petersen et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Nox4 NADPH oxidase mediates oxidative stress and apoptosis caused by TNF-α in cerebral vascular endothelial cells

(2009) Shyamali Basuroy et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach

(2009) Silvana Penco et al.   JOURNAL OF NEUROSURGERY

Frequency and phenotypes of cutaneous vascular malformations in a consecutive series of 417 patients with familial cerebral cavernous malformations

(2009) J Sirvente et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Torturing a blood vessel

(2009) Cam Patterson   NATURE MEDICINE

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

(2009) Kevin J Whitehead et al.   NATURE MEDICINE

Regulation of cardiovascular development and integrity by the heart of glass–cerebral cavernous malformation protein pathway

(2009) Benjamin Kleaveland et al.   NATURE MEDICINE

CEREBRAL CAVERNOUS MALFORMATIONS

(2009) Judith Gault et al.   NEUROSURGERY

Immune Response in Human Cerebral Cavernous Malformations

(2009) Changbin Shi et al.   STROKE

Antioxidative effects of statins

(2008) Oliver Adam et al.   ARCHIVES OF TOXICOLOGY

Combinatorial interaction between CCM pathway genes precipitates hemorrhagic stroke

(2008) A. V. Gore et al.   Disease Models & Mechanisms

Structural and functional differences between KRIT1A and KRIT1B isoforms: A framework for understanding CCM pathogenesis

(2008) Floriana Francalanci et al.   EXPERIMENTAL CELL RESEARCH

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

(2008) Axel Pagenstecher et al.   HUMAN MOLECULAR GENETICS

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

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

(2008) Sonja Stahl et al.   HUMAN MUTATION

Fluvastatin prevents glutamate-induced blood-brain-barrier disruption in vitro

(2008) Christoph R.W. Kuhlmann et al.   LIFE SCIENCES

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations

(2008) F. Gianfrancesco et al.   NEUROSCIENCE

The role of oxidative stress and NADPH oxidase in cerebrovascular disease

(2008) Sophocles Chrissobolis et al.   TRENDS IN MOLECULAR MEDICINE