Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation

Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation

(2023) Ran Huo et al.   ANGIOGENESIS

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

(2023) Jian Ren et al.   BRAIN

Research Progress of m6A RNA Methylation in Skin Diseases

(2023) Chang Liu et al.   Biomed Research International

m6A methylation: Critical roles in aging and neurological diseases

(2023) Yishu Fan et al.   Frontiers in Molecular Neuroscience

A single-cell atlas of the normal and malformed human brain vasculature

(2022) Ethan A. Winkler et al.   SCIENCE

Circulating Interleukin-6 and CD16 positive monocytes increase following angioplasty of an arteriovenous fistula

(2022) Seran Hakki et al.   Scientific Reports

Endothelial Cell TGF-β (Transforming Growth Factor-Beta) Signaling Regulates Venous Adaptive Remodeling to Improve Arteriovenous Fistula Patency

(2022) Ryosuke Taniguchi et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Epigenetic Underpinnings of Inflammation: A Key to Unlock the Tumor Microenvironment in Glioblastoma

(2022) Nian Chen et al.   Frontiers in Immunology

Hypoxia Promotes Angiogenic Effect in Extracranial Arteriovenous Malformation Endothelial Cells

(2022) Joon Seok Lee et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

mTOR-FABP4 signal is activated in brain arteriovenous malformations in humans

(2022) Debin Yan et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Bindarit encapsulated nanoparticles prevent venous neointimal hyperplasia and restenosis in a murine angioplasty model

(2022) AVISHEK K. Singh et al.   Translational Research

Extracranial arteriovenous malformations demonstrate dysregulated TGF-β/BMP signaling and increased circulating TGF-β1

(2022) Ting Wei et al.   Scientific Reports

DNA methylation signatures on vascular differentiation genes are aberrant in vessels of human cerebral arteriovenous malformation nidus

(2022) Jaya Mary Thomas et al.   Clinical Epigenetics

Abnormal transcriptome-wide DNA demethylation induced by folate deficiency causes neural tube defects

(2022) Shan Wang et al.   Frontiers in Genetics

BMP10 functions independently from BMP9 for the development of a proper arteriovenous network

(2022) Hyunwoo Choi et al.   ANGIOGENESIS

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

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

An acquired cerebral arteriovenous malformation after brain abscess treatment: case report and a review of the literature

(2021) Hangeul Park et al.   CHILDS NERVOUS SYSTEM

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

Epigenetic Regulation of NK Cell-Mediated Antitumor Immunity

(2021) Miaoran Xia et al.   Frontiers in Immunology

De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation

(2021) Hao Li et al.   CIRCULATION RESEARCH

Copy number variation and neuropsychiatric illness

(2021) Elliott Rees et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Review of treatment and therapeutic targets in brain arteriovenous malformation

(2021) Peipei Pan et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Noncoding RNA therapeutics — challenges and potential solutions

(2021) Melanie Winkle et al.   NATURE REVIEWS DRUG DISCOVERY

An Insight into the microRNAs Associated with Arteriovenous and Cavernous Malformations of the Brain

(2021) Ioan Alexandru Florian et al.   Cells

Molecular Biomarkers and Drug Targets in Brain Arteriovenous and Cavernous Malformations: Where Are We?

(2021) Vani Venugopal et al.   STROKE

CTCFL expression is associated with cerebral vascular abnormalities

(2021) Leyla Sati et al.   TISSUE & CELL

Molecular Signature of Brain Arteriovenous Malformation Hemorrhage: A Systematic Review

(2021) Menno R. Germans et al.   World Neurosurgery

PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis

(2020) Kwanha Yu et al.   NATURE

Silencing of Long Non-coding RNA GAS5 Suppresses Neuron Cell Apoptosis and Nerve Injury in Ischemic Stroke Through Inhibiting DNMT3B-Dependent MAP4K4 Methylation

(2020) Yiming Deng et al.   Translational Stroke Research

Pathogenesis of Ischemic Stroke: Role of Epigenetic Mechanisms

(2020) Rosita Stanzione et al.   Genes

Clinical outcome following cerebral AVM hemorrhage

(2020) Bengt Karlsson et al.   ACTA NEUROCHIRURGICA

Wilms' tumour 1‐associating protein inhibits endothelial cell angiogenesis by m6A‐dependent epigenetic silencing of desmoplakin in brain arteriovenous malformation

(2020) Lin‐jian Wang et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Methylation of Phospholipase A2 Group VII Gene Is Associated with Brain Arteriovenous Malformations in Han Chinese Populations

(2020) Yuchun Liu et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

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

Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models Of Hereditary Hemorrhagic Telangiectasia

(2020) Yong Hwan Kim et al.   CIRCULATION RESEARCH

MiR-18a inhibits BMP4 and HIF-1α Normalizing Brain Arteriovenous Malformations

(2020) Nagore I. Marín-Ramos et al.   CIRCULATION RESEARCH

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

(2020) Concetta Scimone et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Deciphering the vascular labyrinth: role of microRNAs and candidate gene SNPs in brain AVM development – literature review

(2020) Ioan Alexandru Florian et al.   NEUROLOGICAL RESEARCH

Mesenchymal Behavior of the Endothelium Promoted by SMAD6 Downregulation Is Associated With Brain Arteriovenous Malformation Microhemorrhage

(2020) Weilun Fu et al.   STROKE

Cerebral Arteriovenous Malformations as Acquired Lesions: Case Reports and Review of the Literature

(2020) Yasuyuki Nagai et al.   Journal of Stroke & Cerebrovascular Diseases

Pathological angiogenesis and inflammation in tissues

(2020) Ji-Hak Jeong et al.   ARCHIVES OF PHARMACAL RESEARCH

Neurovascular inflammation in the pathogenesis of brain arteriovenous malformations

(2020) S. Krithika et al.   JOURNAL OF CELLULAR PHYSIOLOGY

METTL1 Promotes let-7 MicroRNA Processing via m7G Methylation

(2019) Luca Pandolfini et al.   MOLECULAR CELL

Elevated endothelial Sox2 causes lumen disruption and cerebral arteriovenous malformations

(2019) Jiayi Yao et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

RNA Sequencing Reveals the Activation of Wnt Signaling in Low Flow Rate Brain Arteriovenous Malformations

(2019) Ran Huo et al.   Journal of the American Heart Association

Recent Advances in Basic Research for Brain Arteriovenous Malformation

(2019) Barbosa Do Prado et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Correcting Smad1/5/8, mTOR, and VEGFR2 treats pathology in hereditary hemorrhagic telangiectasia models

(2019) Santiago Ruiz et al.   JOURNAL OF CLINICAL INVESTIGATION

Genome-Wide Sequencing Reveals Small Nucleolar RNAs Downregulated in Cerebral Cavernous Malformations

(2018) Souvik Kar et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

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

Tet2 promotes pathogen infection-induced myelopoiesis through mRNA oxidation

(2018) Qicong Shen et al.   NATURE

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

(2018) Sergey I. Nikolaev et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene expression analysis of nidus of cerebral arteriovenous malformations reveals vascular structures with deficient differentiation and maturation

(2018) Jaya Mary Thomas et al.   PLoS One

Thalidomide Reduces Hemorrhage of Brain Arteriovenous Malformations in a Mouse Model

(2018) Wan Zhu et al.   STROKE

De Novo Arteriovenous Malformation in a Pediatric Patient: Case Report and Review of the Literature

(2018) Roberta Santos et al.   World 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

LncRNAs expression signatures of human brain arteriovenous malformation revealed by microarray

(2018) Xiong Li et al.   MEDICINE

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

(2018) Tao Hong et al.   BRAIN

Acetylation of Cytidine in mRNA Promotes Translation Efficiency

(2018) Daniel Arango et al.   CELL

Imputation of DNA Methylation Levels in the Brain Implicates a Risk Factor for Parkinsons Disease

(2016) K. Rawlik et al.   GENETICS

Multicenter assessment of morbidity associated with cerebral arteriovenous malformation hemorrhages

(2016) Keiko Fukuda et al.   Journal of NeuroInterventional Surgery

Sex-dichotomous effects of NOS1AP promoter DNA methylation on intracranial aneurysm and brain arteriovenous malformation

(2016) Zhepei Wang et al.   NEUROSCIENCE LETTERS

Notch regulates BMP responsiveness and lateral branching in vessel networks via SMAD6

(2016) Kevin P. Mouillesseaux et al.   Nature Communications

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

(2016) Jaya Mary Thomas et al.   Clinical Epigenetics

Blockade of Specific NOTCH Ligands: A New Promising Approach in Cancer Therapy

(2015) Anaïs Briot et al.   Cancer Discovery

DNA Methylation Inhibitor Zebularine Confers Stroke Protection in Ischemic Rats

(2015) Hua Dock et al.   Translational Stroke Research

Brain arteriovenous malformations

(2015) Michael T. Lawton et al.   Nature Reviews Disease Primers

Transgenerational Epigenetic Inheritance: Myths and Mechanisms

(2014) Edith Heard et al.   CELL

Mammalian WTAP is a regulatory subunit of the RNA N6-methyladenosine methyltransferase

(2014) Xiao-Li Ping et al.   CELL RESEARCH

BMP Signaling Modulation Attenuates Cerebral Arteriovenous Malformation Formation in a Vertebrate Model

(2014) Brian P Walcott   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Biology of Cerebral Arteriovenous Malformations with a Focus on Inflammation

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

RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity

(2014) Jun Kawasaki et al.   JOURNAL OF CLINICAL INVESTIGATION

Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain

(2014) P H C Kremer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Are parenchymal AVMs congenital lesions?

(2014) Saul F. Morales-Valero et al.   Neurosurgical Focus

IL-6 in Inflammation, Immunity, and Disease

(2014) T. Tanaka et al.   Cold Spring Harbor Perspectives in Biology

Notch1 and 4 Signaling Responds to an Increasing Vascular Wall Shear Stress in a Rat Model of Arteriovenous Malformations

(2014) Jian Tu et al.   Biomed Research International

DNA methylation changes in the postmortem dorsolateral prefrontal cortex of patients with schizophrenia

(2014) Shusuke Numata et al.   Frontiers in Genetics

TGFβ Signaling and Cardiovascular Diseases

(2013) Evangelia Pardali et al.   International Journal of Biological Sciences

VEGFA and tumour angiogenesis

(2013) L. Claesson-Welsh et al.   JOURNAL OF INTERNAL MEDICINE

Relevance of IL-6 and MMP-9 to cerebral arteriovenous malformation and hemorrhage

(2013) XIONG LI et al.   Molecular Medicine Reports

A METTL3–METTL14 complex mediates mammalian nuclear RNA N6-adenosine methylation

(2013) Jianzhao Liu et al.   Nature Chemical Biology

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

(2013) Nasrine Bendjilali et al.   PLoS One

Receptor Tyrosine Kinase-Mediated Angiogenesis

(2013) M. Jeltsch et al.   Cold Spring Harbor Perspectives in Biology

Reduced Mural Cell Coverage and Impaired Vessel Integrity After Angiogenic Stimulation in the Alk1 -deficient Brain

(2012) Wanqiu Chen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand?

(2012) C. L. Sturiale et al.   BRAIN

Natural history of cerebral arteriovenous malformations: a meta-analysis

(2012) Bradley A. Gross et al.   JOURNAL OF NEUROSURGERY

Notch4 Normalization Reduces Blood Vessel Size in Arteriovenous Malformations

(2012) P. A. Murphy et al.   Science Translational Medicine

Brain-Derived Neurotrophic Factor Val66Met Polymorphism Predicts Worse Functional Outcome After Surgery in Patients With Unruptured Brain Arteriovenous Malformation

(2012) Erick M. Westbroek et al.   STROKE

Polymorphisms of the vascular endothelial growth factor A gene and susceptibility to sporadic brain arteriovenous malformation in a Chinese population

(2011) Hongyan Chen et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Arteriovenous malformation in the adult mouse brain resembling the human disease

(2010) Espen J. Walker et al.   ANNALS OF NEUROLOGY

Histone Deacetylase 7 Controls Endothelial Cell Growth Through Modulation of β-Catenin

(2010) Andriana Margariti et al.   CIRCULATION RESEARCH

Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation

(2010) Luis Luna-Zurita et al.   JOURNAL OF CLINICAL INVESTIGATION

The rs522616 polymorphism in the matrix metalloproteinase-3 (MMP-3) gene is associated with sporadic brain arteriovenous malformation in a Chinese population

(2010) Yao Zhao et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

Reduced Expression of Integrin αvβ8 Is Associated with Brain Arteriovenous Malformation Pathogenesis

(2009) Hua Su et al.   AMERICAN JOURNAL OF PATHOLOGY

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

Emerging role of bone morphogenetic proteins in angiogenesis

(2009) Laurent David et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Endothelial Notch signaling is upregulated in human brain arteriovenous malformations and a mouse model of the disease

(2009) Patrick A Murphy et al.   LABORATORY INVESTIGATION

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

EVIDENCE OF INFLAMMATORY CELL INVOLVEMENT IN BRAIN ARTERIOVENOUS MALFORMATIONS

(2009) Yongmei Chen et al.   NEUROSURGERY

TGF-β signaling in vascular biology and dysfunction

(2008) Marie-José Goumans et al.   CELL RESEARCH

Common Variants in Interleukin-1-Beta Gene Are Associated with Intracranial Hemorrhage and Susceptibility to Brain Arteriovenous Malformation

(2008) Helen Kim et al.   CEREBROVASCULAR DISEASES

Notch Signaling in Cardiac Development

(2008) Kyle Niessen et al.   CIRCULATION RESEARCH

Epigenetic Regulation of Vascular Endothelial Gene Expression

(2008) Charles C. Matouk et al.   CIRCULATION RESEARCH

Artery and vein size is balanced by Notch and ephrin B2/EphB4 during angiogenesis

(2008) Y. H. Kim et al.   DEVELOPMENT

Susceptibility loci for intracranial aneurysm in European and Japanese populations

(2008) Kaya Bilguvar et al.   NATURE GENETICS

Inflammatory molecule expression in cerebral arteriovenous malformations

(2007) Kingsley P. Storer et al.   JOURNAL OF CLINICAL NEUROSCIENCE