Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis

At the Crossroads of Clinical and Preclinical Research for Muscular Dystrophy—Are We Closer to Effective Treatment for Patients?

(2018) Kinga Gawlik   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sonic hedgehog promotes endothelial differentiation of bone marrow mesenchymal stem cells via VEGF-D

(2018) Sheng Shi et al.   Journal of Thoracic Disease

An unusual presentation of superficial siderosis with focal dystonia and ‘Giant panda morphology’ on MRI: atypical clinicoradiological amalgam

(2018) Kadam Nagpal et al.   NEUROLOGICAL SCIENCES

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

(2017) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis

(2017) Waleed Brinjikji et al.   JOURNAL OF NEUROSURGERY

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations

(2017) Carmela Rinaldi et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Association of ACVRL1 Genetic Polymorphisms with Arteriovenous Malformations: A Case-Control Study and Meta-Analysis

(2017) Mingxu Ge et al.   World Neurosurgery

Incidental findings on brain MRI of cognitively normal first-degree descendants of patients with Alzheimer's disease: a cross-sectional analysis from the ALFA (Alzheimer and Families) project

(2017) Anna Brugulat-Serrat et al.   BMJ Open

CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

(2016) Concetta Scimone et al.   BMC Medical Genetics

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations

(2016) Concetta Scimone et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

(2016) Huanjiao Jenny Zhou et al.   NATURE MEDICINE

Pathogenesis of Brain Arteriovenous Malformations

(2016) Masaki KOMIYAMA   NEUROLOGIA MEDICO-CHIRURGICA

Endothelial Cells Lining Sporadic Cerebral Cavernous Malformation Cavernomas Undergo Endothelial-to-Mesenchymal Transition

(2016) Luca Bravi et al.   STROKE

Genetic and epigenetic mechanisms in the development of arteriovenous malformations in the brain

(2016) Jaya Mary Thomas et al.   Clinical Epigenetics

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

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

Cerebral Cavernous Malformation-1 Protein Controls DLL4-Notch3 Signaling Between the Endothelium and Pericytes

(2015) G. B. Schulz et al.   STROKE

Emerging roles of BMP9 and BMP10 in hereditary hemorrhagic telangiectasia

(2015) Emmanuelle Tillet et al.   Frontiers in Genetics

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

(2015) Jamie McDonald et al.   Frontiers in Genetics

Polymorphisms in Inflammatory and Immune Response Genes Associated with Cerebral Cavernous Malformation Type 1 Severity

(2014) Hélène Choquet et al.   CEREBROVASCULAR DISEASES

Proteomic analysis reveals KRIT1 as a modulator for the antioxidant effects of valproic acid in human bone-marrow mesenchymal stromal cells

(2014) Kyoung Hwa Jung et al.   DRUG AND CHEMICAL TOXICOLOGY

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations

(2014) Robert Shenkar et al.   GENETICS IN MEDICINE

Cerebral cavernous malformation proteins at a glance

(2014) Kyle M. Draheim et al.   JOURNAL OF CELL SCIENCE

Biology of Cerebral Arteriovenous Malformations with a Focus on Inflammation

(2014) Nikolaos Mouchtouris et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations

(2014) Souvik Kar et al.   NEUROSURGICAL REVIEW

ccm2-like is required for cardiovascular development as a novel component of the Heg-CCM pathway

(2013) Jonathan N. Rosen et al.   DEVELOPMENTAL BIOLOGY

CCM1–ICAP-1 complex controls β1 integrin–dependent endothelial contractility and fibronectin remodeling

(2013) Eva Faurobert et al.   JOURNAL OF CELL BIOLOGY

A Genome-Wide Investigation of Copy Number Variation in Patients with Sporadic Brain Arteriovenous Malformation

(2013) Nasrine Bendjilali et al.   PLoS One

Structural studies of cerebral cavernous malformations 2 (CCM2) reveal a folded helical domain at its C-terminus

(2012) Oriana S. Fisher et al.   FEBS LETTERS

Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

(2011) Remco A Haasdijk et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

In Vitro Characterization of the Angiogenic Phenotype and Genotype of the Endothelia Derived From Sporadic Cerebral Cavernous Malformations

(2011) Yuan Zhu 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

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: the molecular genetics of CCM

(2010) Florence Riant et al.   FEBS Journal

Crystal Structure of CCM3, a Cerebral Cavernous Malformation Protein Critical for Vascular Integrity

(2010) Xiaofeng Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations

(2010) M. Altas et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Expression of platelet-derived growth factor ligand and receptor in cerebral arteriovenous and cavernous malformations

(2010) Ozlem Yildirim et al.   JOURNAL OF CLINICAL NEUROSCIENCE

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

(2010) Elisa Schleider et al.   NEUROGENETICS

Cavernous Angioma Associated With Arteriovenous Malformation of the Brain

(2010) Hironaga KAMIYAMA et al.   NEUROLOGIA MEDICO-CHIRURGICA

Rap1 and its effector KRIT1/CCM1 regulate  -catenin signaling

(2009) A. J. Glading et al.   Disease Models & Mechanisms

Cerebral Cavernous Malformation 2 Protein Promotes Smad Ubiquitin Regulatory Factor 1-mediated RhoA Degradation in Endothelial Cells

(2009) Lisa E. S. Crose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Apoptotic Functions of PDCD10/CCM3 , the Gene Mutated in Cerebral Cavernous Malformation 3

(2009) Leiling Chen et al.   STROKE

A PP2A Phosphatase High Density Interaction Network Identifies a Novel Striatin-interacting Phosphatase and Kinase Complex Linked to the Cerebral Cavernous Malformation 3 (CCM3) Protein

(2008) Marilyn Goudreault et al.   MOLECULAR & CELLULAR PROTEOMICS