The pathobiology of vascular malformations: insights from human and model organism genetics

RASA1somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

(2016) Colleen F. Macmurdo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Alk1 controls arterial endothelial cell migration in lumenized vessels

(2016) Elizabeth R. Rochon et al.   DEVELOPMENT

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport

(2016) Csilla E. Németh et al.   FEBS LETTERS

Expression profiles of the Gα subunits during Xenopus tropicalis embryonic development

(2016) Jaime Fuentealba et al.   GENE EXPRESSION PATTERNS

Regulation, Signaling, and Physiological Functions of G-Proteins

(2016) Viktoriya Syrovatkina et al.   JOURNAL OF MOLECULAR BIOLOGY

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

Endothelial Cells from Capillary Malformations Are Enriched for Somatic GNAQ Mutations

(2016) Javier A. Couto et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Cdc42 and k-Ras Control Endothelial Tubulogenesis through Apical Membrane and Cytoskeletal Polarization: Novel Stimulatory Roles for GTPase Effectors, the Small GTPases, Rac2 and Rap1b, and Inhibitory Influence of Arhgap31 and Rasa1

(2016) Pieter R. Norden et al.   PLoS One

Somatic Activating PIK3CA Mutations Cause Venous Malformation

(2015) Nisha Limaye et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enhanced post-ischemic angiogenesis in mice lacking RNF213; a susceptibility gene for moyamoya disease

(2015) Akira Ito et al.   BRAIN RESEARCH

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

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

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts

(2015) Nicoletta Zoppi et al.   HUMAN MOLECULAR GENETICS

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

(2015) Valerie L. Luks et al.   JOURNAL OF PEDIATRICS

Sulindac metabolites decrease cerebrovascular malformations inCCM3-knockout mice

(2015) Luca Bravi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CCM-3/STRIPAK promotes seamless tube extension through endocytic recycling

(2015) Benjamin Lant et al.   Nature Communications

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

(2015) Kazuhiro Ohkubo et al.   Scientific Reports

Mouse models of hereditary hemorrhagic telangiectasia: recent advances and future challenges

(2015) Simon Tual-Chalot et al.   Frontiers in Genetics

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

(2015) Jamie McDonald et al.   Frontiers in Genetics

Blood Vascular Abnormalities in Rasa1R780Q Knockin Mice

(2014) Beth A. Lubeck et al.   AMERICAN JOURNAL OF PATHOLOGY

VEGF neutralization can prevent and normalize arteriovenous malformations in an animal model for hereditary hemorrhagic telangiectasia 2

(2014) Chul Han et al.   ANGIOGENESIS

Common and Distinctive Pathogenetic Features of Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia 1 and Hereditary Hemorrhagic Telangiectasia 2 Animal Models—Brief Report

(2014) Eva M. Garrido-Martin et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

CADASIL and CARASIL

(2014) Saara Tikka et al.   BRAIN PATHOLOGY

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease

(2014) Shinya Sonobe et al.   BRAIN RESEARCH

Generation of mice carrying a knockout-first and conditional-ready allele of transforming growth factor beta2 gene

(2014) A. S. Ishtiaq Ahmed et al.   GENESIS

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

Absence of Cardiovascular Manifestations in a Haploinsufficient Tgfbr1 Mouse Model

(2014) Marjolijn Renard et al.   PLoS One

Endothelial Depletion of Acvrl1 in Mice Leads to Arteriovenous Malformations Associated with Reduced Endoglin Expression

(2014) Simon Tual-Chalot et al.   PLoS One

De Novo Cerebrovascular Malformation in the Adult Mouse After Endothelial Alk1 Deletion and Angiogenic Stimulation

(2014) Wanqiu Chen et al.   STROKE

Features of Cerebral Autosomal Recessive Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

(2014) Hiroaki Nozaki et al.   STROKE

Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state

(2014) Daisuke Morito et al.   Scientific Reports

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

(2013) Mustapha Amyere et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelRASA1mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

(2013) Hannah J. Durrington et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expression of conventional and novel glucose transporters, GLUT1, -9, -10, and -12, in vascular smooth muscle cells

(2013) Rajkumar Pyla et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Diagnosis and Treatment of Parkes Weber Syndrome: A Review of 10 Consecutive Patients

(2013) Óscar Girón-Vallejo et al.   ANNALS OF VASCULAR SURGERY

Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients

(2013) Toshiaki Hitomi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Ablation of Rnf213 retards progression of diabetes in the Akita mouse

(2013) Hatasu Kobayashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Abnormal recruitment of extracellular matrix proteins by excess Notch3ECD: a new pathomechanism in CADASIL

(2013) Marie Monet-Leprêtre et al.   BRAIN

Circulating Bmp10 acts through endothelial Alk1 to mediate flow-dependent arterial quiescence

(2013) D. W. Laux et al.   DEVELOPMENT

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB

(2013) Melanie Uebelhoer et al.   HUMAN MOLECULAR GENETICS

RASA1Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

(2013) Nicole Revencu et al.   HUMAN MUTATION

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

(2013) Elena M. Gallo et al.   JOURNAL OF CLINICAL INVESTIGATION

EndMT contributes to the onset and progression of cerebral cavernous malformations

(2013) Luigi Maddaluno et al.   NATURE

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Moyamoya Disease in a Primarily White, Midwestern US Population

(2013) Regina S. Bower et al.   STROKE

Cerebral cavernous malformations: from CCM genes to endothelial cell homeostasis

(2013) Andreas Fischer et al.   TRENDS IN MOLECULAR MEDICINE

Capillary malformation–arteriovenous malformation syndrome: Identification of a family with a novel mutation

(2012) Lynn M. Boyden et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

The Glomuvenous Malformation Protein Glomulin Binds Rbx1 and Regulates Cullin RING Ligase-Mediated Turnover of Fbw7

(2012) Adriana E. Tron et al.   MOLECULAR CELL

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

(2012) Mark E Lindsay et al.   NATURE GENETICS

Endothelial PI3K-C2α, a class II PI3K, has an essential role in angiogenesis and vascular barrier function

(2012) Kazuaki Yoshioka et al.   NATURE MEDICINE

Age-Dependent Lethality in Novel Transgenic Mouse Models of Central Nervous System Arteriovenous Malformations

(2012) Ian Milton et al.   STROKE

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

Interaction between alk1 and blood flow in the development of arteriovenous malformations

(2011) P. Corti et al.   DEVELOPMENT

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

A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations

(2011) Riccardo G. Borroni et al.   EXPERIMENTAL DERMATOLOGY

Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1

(2011) Atsushi Shiga et al.   HUMAN MOLECULAR GENETICS

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio

(2011) Nicola Chiarelli et al.   INTERNATIONAL JOURNAL OF 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

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL): From Discovery to Gene Identification

(2011) Toshio Fukutake   Journal of Stroke & Cerebrovascular Diseases

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease

(2011) J. F. Arboleda-Velasquez 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

Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations

(2010) N. Ricard et al.   BLOOD

Pathogenesis of Arteriovenous Malformations in the Absence of Endoglin

(2010) Marwa Mahmoud et al.   CIRCULATION RESEARCH

EYE LESIONS OF THE STURGE-WEBER SYNDROME

(2010) P. A. GARDINER   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

(2010) Yi-Ching Lee et al.   HUMAN MOLECULAR GENETICS

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

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

(2010) Rebecca A. Stockton et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

(2010) Fumiaki Kamada et al.   JOURNAL OF HUMAN GENETICS

MicroRNA-132–mediated loss of p120RasGAP activates the endothelium to facilitate pathological angiogenesis

(2010) Sudarshan Anand et al.   NATURE MEDICINE

KRIT1 Regulates the Homeostasis of Intracellular Reactive Oxygen Species

(2010) Luca Goitre et al.   PLoS One

Signaling by members of the TGF-β family in vascular morphogenesis and disease

(2010) Evangelia Pardali et al.   TRENDS IN CELL BIOLOGY

Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations

(2009) G. Boulday et al.   Disease Models & Mechanisms

Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

(2009) Vinciane Wouters et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

(2009) Katrin Voss et al.   HUMAN MUTATION

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

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

(2009) Kevin J Whitehead et al.   NATURE MEDICINE

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

(2009) Kenju Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Role of varicella virus and anticardiolipin antibodies in the development of stroke in a patient with Down syndrome associated with Moyamoya syndrome

(2009) Masaaki Morino et al.   PEDIATRICS INTERNATIONAL

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations

(2008) D. Hershkovitz et al.   BRITISH JOURNAL OF DERMATOLOGY

Mutations in the SLC2A10 gene cause arterial abnormalities in mice

(2008) C.-H. Cheng et al.   CARDIOVASCULAR RESEARCH

Absence of arterial phenotype in mice with homozygousslc2A10missense substitutions

(2008) B.L. Callewaert et al.   GENESIS

ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish

(2008) Benjamin M. Hogan et al.   HUMAN MOLECULAR GENETICS

Tie2-R849W Mutant in Venous Malformations Chronically Activates a Functional STAT1 to Modulate Gene Expression

(2008) Hsiao-Tang Hu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

(2008) Nisha Limaye et al.   NATURE GENETICS

ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2

(2007) S. O. Park et al.   BLOOD

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

(2007) B.L. Callewaert et al.   HUMAN MUTATION