Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

Somatic mutations in intracranial arteriovenous malformations

(2020) Jeremy A. Goss et al.   PLoS One

Endothelial-specific YY1 governs sprouting angiogenesis through directly interacting with RBPJ

(2020) Shuya Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations

(2020) Concetta Scimone et al.   Frontiers in Genetics

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation

(2019) Chiara Villa et al.   Frontiers in Molecular Neuroscience

G protein-coupled receptors activate p38 MAPK via a non-canonical TAB1-TAB2 and TAB1-TAB3 dependent pathway in endothelial cells

(2019) Neil J. Grimsey et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disruption of the Extracellular Matrix Progressively Impairs Central Nervous System Vascular Maturation Downstream of β-Catenin Signaling

(2019) Lasse D. Jensen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Endoglin is a conserved regulator of vasculogenesis in zebrafish – implications for hereditary haemorrhagic telangiectasia

(2019) Ding Zhang et al.   BIOSCIENCE REPORTS

Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation

(2019) David S. Priemer et al.   HUMAN PATHOLOGY

Methylation of the CDKN2A Gene Increases the Risk of Brain Arteriovenous Malformations

(2019) Xiaosheng Chen et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Caught between a “Rho” and a hard place: are CCN1/CYR61 and CCN2/CTGF the arbiters of microvascular stiffness?

(2019) Brahim Chaqour   Journal of Cell Communication and Signaling

Loss of Endothelial Endoglin Promotes High-Output Heart Failure Through Peripheral Arteriovenous Shunting Driven by VEGF Signaling

(2019) Simon Tual-Chalot et al.   CIRCULATION RESEARCH

RNA-Sequencing Highlights Inflammation and Impaired Integrity of the Vascular Wall in Brain Arteriovenous Malformations

(2019) Allard J. Hauer et al.   STROKE

EphrinB2 regulates VEGFR2 during dendritogenesis and hippocampal circuitry development

(2019) Eva Harde et al.   eLife

Vascular deficiency of Smad4 causes arteriovenous malformations: a mouse model of Hereditary Hemorrhagic Telangiectasia

(2018) Angela M. Crist et al.   ANGIOGENESIS

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

(2018) Lara Al-Olabi et al.   JOURNAL OF CLINICAL INVESTIGATION

Reductions in brain pericytes are associated with arteriovenous malformation vascular instability

(2018) Ethan A. Winkler et al.   JOURNAL OF NEUROSURGERY

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

(2018) Kun Wang et al.   JOURNAL OF MEDICAL GENETICS

Characterization of Endothelial Cilia Distribution During Cerebral-Vascular Development in Zebrafish ( Danio rerio )

(2018) Shahram Eisa-Beygi et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

TFEB controls vascular development by regulating the proliferation of endothelial cells

(2018) Gabriella Doronzo et al.   EMBO JOURNAL

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

NOTCH4gene polymorphisms as potential risk factors for brain arteriovenous malformation development and hemorrhagic presentation

(2017) Daniel Delev et al.   JOURNAL OF NEUROSURGERY

Slit2 suppresses endothelial cell proliferation and migration by inhibiting the VEGF-Notch signaling pathway

(2017) Guo-Jian Li et al.   Molecular Medicine Reports

Cerebrovascular Angiogenic Reprogramming upon LRP1 Repression: Impact on Sphingosine-1-Phosphate-Mediated Signaling in Brain Endothelial Cell Chemotactism

(2017) Amélie Vézina et al.   MOLECULAR NEUROBIOLOGY

Fzd7 (Frizzled-7) Expressed by Endothelial Cells Controls Blood Vessel Formation Through Wnt/β-Catenin Canonical SignalingHighlights

(2016) Claire Peghaire et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Hypoxic stress up-regulates Kir2.1 expression and facilitates cell proliferation in brain capillary endothelial cells

(2016) Hideto Yamamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Biological relevance of tissue factor and IL-6 in arteriovenous malformations

(2016) Shouhei Noshiro et al.   NEUROSURGICAL REVIEW

Endothelial cells decode VEGF-mediated Ca2+signaling patterns to produce distinct functional responses

(2016) David P. Noren et al.   Science Signaling

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

(2016) Jaya Mary Thomas et al.   Clinical Epigenetics

Endothelial cells decode VEGF-mediated Ca2+signaling patterns to produce distinct functional responses

(2016) David P. Noren et al.   Science Signaling

Activation of TAK1 by Chemotactic and Growth Factors, and Its Impact on Human Neutrophil Signaling and Functional Responses

(2015) S. Sylvain-Prevost et al.   JOURNAL OF IMMUNOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

The lipoprotein receptor LRP1 modulates sphingosine-1-phosphate signaling and is essential for vascular development

(2014) C. Nakajima et al.   DEVELOPMENT

Ephrin B2 and EphB4 selectively mark arterial and venous vessels in cerebral arteriovenous malformation

(2014) Jie Bai et al.   JOURNAL OF INTERNATIONAL MEDICAL RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Constitutively active Notch4 receptor elicits brain arteriovenous malformations through enlargement of capillary-like vessels

(2014) Patrick A. Murphy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

EphrinB-mediated reverse signalling controls junctional integrity and pro-inflammatory differentiation of endothelial cells

(2014) Hui Liu et al.   THROMBOSIS AND HAEMOSTASIS

Human brain arteriovenous malformations express lymphatic-associated genes

(2014) Lorelei D. Shoemaker et al.   Annals of Clinical and Translational Neurology

BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia

(2013) Whitney L. Wooderchak-Donahue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions

(2013) Margaret R. Davis et al.   MOLECULAR GENETICS AND METABOLISM

Transforming growth factor beta signaling in adult cardiovascular diseases and repair

(2011) Thomas Doetschman et al.   CELL AND TISSUE RESEARCH

The axonal repellent Slit2 inhibits pericyte migration: Potential implications in angiogenesis

(2011) I. Guijarro-Muñoz et al.   EXPERIMENTAL CELL RESEARCH

Semaphorin 3E-Plexin-D1 signaling regulates VEGF function in developmental angiogenesis via a feedback mechanism

(2011) J. Kim et al.   GENES & DEVELOPMENT

Distribution of vascular endothelial growth factor receptor-3/Flt4 mRNA in adult rat central nervous system

(2011) Yun Hou et al.   JOURNAL OF CHEMICAL NEUROANATOMY

Inactivation of EphA2 promotes tight junction formation and impairs angiogenesis in brain endothelial cells

(2011) Na Zhou et al.   MICROVASCULAR RESEARCH

Contribution of Kir2 potassium channels to ATP-induced cell death in brain capillary endothelial cells and reconstructed HEK293 cell model

(2010) Daiju Yamazaki et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

(2009) Gabriela Bindea et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Homeostatic interactions between MEKK3 and TAK1 involved in NF-κB signaling

(2007) Yuwei Di et al.   CELLULAR SIGNALLING