Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia

Selective effects of oral antiangiogenic tyrosine kinase inhibitors on an animal model of hereditary hemorrhagic telangiectasia

(2017) Y. H. Kim et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Gene Therapy for Hemophilia

(2017) Arthur W. Nienhuis et al.   MOLECULAR THERAPY

Endoglin prevents vascular malformation by regulating flow-induced cell migration and specification through VEGFR2 signalling

(2017) Yi Jin et al.   NATURE CELL BIOLOGY

Delivery technologies for genome editing

(2017) Hao Yin et al.   NATURE REVIEWS DRUG DISCOVERY

Soluble FLT1 Gene Therapy Alleviates Brain Arteriovenous Malformation Severity

(2017) Wan Zhu et al.   STROKE

CRISPR/Cas9-generated p47phox-deficient cell line for Chronic Granulomatous Disease gene therapy vector development

(2017) Dominik Wrona et al.   Scientific Reports

Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1

(2017) Takako Saito et al.   Cell Reports

Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice

(2017) Nicola Carriglio et al.   Human Gene Therapy Clinical Development

Persistent infiltration and pro-inflammatory differentiation of monocytes cause unresolved inflammation in brain arteriovenous malformation

(2016) Rui Zhang et al.   ANGIOGENESIS

Transcription factor KLF6 upregulates expression of metalloprotease MMP14 and subsequent release of soluble endoglin during vascular injury

(2016) Eunate Gallardo-Vara et al.   ANGIOGENESIS

The role of endoglin in post-ischemic revascularization

(2016) Elena Núñez-Gómez et al.   ANGIOGENESIS

Topical application of timolol decreases the severity and frequency of epistaxis in patients who have previously undergone nasal dermoplasty for hereditary hemorrhagic telangiectasia

(2016) Keiichi Ichimura et al.   AURIS NASUS LARYNX

Regulation of the ALK1 ligands, BMP9 and BMP10

(2016) W. Li et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Targeting tumour vasculature by inhibiting activin receptor-like kinase (ALK)1 function

(2016) A. G. de Vinuesa et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia

(2016) Kevin J. Whitehead et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia

(2016) Sophie Dupuis-Girod et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia

(2016) Nicolas Baeyens et al.   JOURNAL OF CELL BIOLOGY

Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?

(2016) Sophie Dupuis-Girod et al.   LIVER INTERNATIONAL

Endoglin targeting inhibits tumor angiogenesis and metastatic spread in breast cancer

(2016) M Paauwe et al.   ONCOGENE

Treatment of Hereditary Hemorrhagic Telangiectasia–Related Epistaxis

(2016) Nathan B. Sautter et al.   OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA

Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia

(2016) Roberto Zarrabeitia et al.   THROMBOSIS AND HAEMOSTASIS

PI3 kinase inhibition improves vascular malformations in mouse models of hereditary haemorrhagic telangiectasia

(2016) Roxana Ola et al.   Nature Communications

Mice Lacking Endoglin in Macrophages Show an Impaired Immune Response

(2016) Luisa Ojeda-Fernández et al.   PLoS Genetics

TheACVRL1c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients withENGmutations, but not in patients withACVRL1mutations

(2015) Ludmila Pawlikowska et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Endoglin regulates mural cell adhesion in the circulatory system

(2015) Elisa Rossi et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations inACVRL1

(2015) K. Heimdal et al.   CLINICAL GENETICS

Prevalence of AAV1 neutralizing antibodies and consequences for a clinical trial of gene transfer for advanced heart failure

(2015) B Greenberg et al.   GENE THERAPY

Metformin as possible therapy of pulmonary arterio venous malformation in HHT patients

(2015) Alexis Lacout et al.   MEDICAL HYPOTHESES

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

(2015) Manuel Haas et al.   NEUROMUSCULAR DISORDERS

Pericytes as targets in hereditary hemorrhagic telangiectasia

(2015) Jérémy Thalgott et al.   Frontiers in Genetics

Anti-angiogenic therapeutic strategies in hereditary hemorrhagic telangiectasia

(2015) Daniela S. Ardelean et al.   Frontiers in Genetics

Contribution of oxidative stress to endothelial dysfunction in hereditary hemorrhagic telangiectasia

(2015) Mirjana Jerkic et al.   Frontiers in Genetics

Endoglin involvement in integrin-mediated cell adhesion as a putative pathogenic mechanism in hereditary hemorrhagic telangiectasia type 1 (HHT1)

(2015) Elisa Rossi et al.   Frontiers in Genetics

Research on potential biomarkers in hereditary hemorrhagic telangiectasia

(2015) Luisa-María Botella et al.   Frontiers in Genetics

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14

(2015) Tom G. W. Letteboer et al.   Frontiers in Genetics

Mononuclear cells and vascular repair in HHT

(2015) Calinda K. E. Dingenouts et al.   Frontiers in Genetics

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

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

(2014) Chul Han et al.   ANGIOGENESIS

Ataluren: First Global Approval

(2014) Nicola J. Ryan   DRUGS

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function

(2014) C. Mallet et al.   HUMAN MOLECULAR GENETICS

Effects of the combination of TRC105 and bevacizumab on endothelial cell biology

(2014) Yingmiao Liu et al.   INVESTIGATIONAL NEW DRUGS

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease

(2014) S. Gaillard et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

ENDOGLIN Is Dispensable for Vasculogenesis, but Required for Vascular Endothelial Growth Factor-Induced Angiogenesis

(2014) Zhen Liu et al.   PLoS One

Investigation of Endoglin Wild-Type and Missense Mutant Protein Heterodimerisation Using Fluorescence Microscopy Based IF, BiFC and FRET Analyses

(2014) Tassilo Förg et al.   PLoS One

Genetic variants of Adam17 differentially regulate TGF  signaling to modify vascular pathology in mice and humans

(2014) K. Kawasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Treatment of epistaxis in hereditary hemorrhagic telangiectasia with tranexamic acid - a double-blind placebo-controlled cross-over phase IIIB study

(2014) Urban W. Geisthoff et al.   THROMBOSIS RESEARCH

Endoglin for Targeted Cancer Treatment

(2014) Lee S. Rosen et al.   Current Oncology Reports

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

The ALK-1/Smad1 pathway in cardiovascular physiopathology. A new target for therapy?

(2013) María González-Núñez et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Specific gene delivery to liver sinusoidal and artery endothelial cells

(2013) T. Abel et al.   BLOOD

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

(2013) P.M. Tørring et al.   CLINICAL GENETICS

Bevacizumab in the treatment of hereditary hemorrhagic telangiectasia

(2013) Theoni Kanellopoulou et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

(2013) A. Guilhem et al.   JOURNAL OF INTERNAL MEDICINE

Impaired Wound Repair in Adult Endoglin Heterozygous Mice Associated with Lower NO Bioavailability

(2013) Eduardo Pérez-Gómez et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Antibody-directed coupling of endoglin and MMP-14 is a key mechanism for endoglin shedding and deregulation of TGF-β signaling

(2013) S Kumar et al.   ONCOGENE

Enhanced Responses to Angiogenic Cues Underlie the Pathogenesis of Hereditary Hemorrhagic Telangiectasia 2

(2013) Eun-Jung Choi et al.   PLoS One

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

BMP9 regulates endoglin-dependent chemokine responses in endothelial cells

(2012) K. Young et al.   BLOOD

Endothelial endoglin is involved in inflammation: role in leukocyte adhesion and transmigration

(2012) E. Rossi et al.   BLOOD

Minimal Homozygous Endothelial Deletion of Eng with VEGF Stimulation Is Sufficient to Cause Cerebrovascular Dysplasia in the Adult Mouse

(2012) Eun-Jung Choi et al.   CEREBROVASCULAR DISEASES

Oxysterol-Induced Soluble Endoglin Release and Its Involvement in Hypertension

(2012) Ana C. Valbuena-Diez et al.   CIRCULATION

Vascular Injury Triggers Krüppel-Like Factor 6 Mobilization and Cooperation With Specificity Protein 1 to Promote Endothelial Activation Through Upregulation of the Activin Receptor-Like Kinase 1 Gene

(2012) Eva M. Garrido-Martín et al.   CIRCULATION RESEARCH

Cost savings through molecular diagnosis for hereditary hemorrhagic telangiectasia

(2012) Barbara A. Bernhardt et al.   GENETICS IN MEDICINE

Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output

(2012) Sophie Dupuis-Girod et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Shear induced collateral artery growth modulated by endoglin but not by ALK1

(2012) Leonard Seghers et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Oxidative Stress Contributes to Endothelial Dysfunction in Mouse Models of Hereditary Hemorrhagic Telangiectasia

(2012) Mirjana Jerkic et al.   Oxidative Medicine and Cellular Longevity

Structural and Functional Insights into Endoglin Ligand Recognition and Binding

(2012) Aaron Alt et al.   PLoS One

Propranolol as antiangiogenic candidate for the therapy of hereditary haemorrhagic telangiectasia

(2012) Virginia Albiñana et al.   THROMBOSIS AND HAEMOSTASIS

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia

(2012) Michael Benzinou et al.   Nature Communications

TGF-β/TGF-β receptor system and its role in physiological and pathological conditions

(2011) Juan F. Santibañez et al.   CLINICAL SCIENCE

Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis

(2011) Jamie McDonald et al.   GENETICS IN MEDICINE

Soluble Endoglin Specifically Binds Bone Morphogenetic Proteins 9 and 10 via Its Orphan Domain, Inhibits Blood Vessel Formation, and Suppresses Tumor Growth

(2011) Roselyne Castonguay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Immunosuppressor FK506 Increases Endoglin and Activin Receptor-Like Kinase 1 Expression and Modulates Transforming Growth Factor- 1 Signaling in Endothelial Cells

(2011) V. Albinana et al.   MOLECULAR PHARMACOLOGY

Overlapping spectra ofSMAD4mutations in juvenile polyposis (JP) and JP-HHT syndrome

(2010) Carol Gallione et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The physiological role of endoglin in the cardiovascular system

(2010) José M. López-Novoa et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Hereditary haemorrhagic telangiectasia: Pathophysiology, diagnosis and treatment

(2010) Claire L. Shovlin   BLOOD REVIEWS

Characterization of the human Activin-A receptor type II-like kinase 1 (ACVRL1) promoter and its regulation by Sp1

(2010) Eva M Garrido-Martin et al.   BMC MOLECULAR BIOLOGY

Matrix Metalloproteinase-14 (MT1-MMP)-Mediated Endoglin Shedding Inhibits Tumor Angiogenesis

(2010) L. J. A. C. Hawinkels et al.   CANCER RESEARCH

Pathogenesis of Arteriovenous Malformations in the Absence of Endoglin

(2010) Marwa Mahmoud et al.   CIRCULATION RESEARCH

Thalidomide stimulates vessel maturation and reduces epistaxis in individuals with hereditary hemorrhagic telangiectasia

(2010) Franck Lebrin et al.   NATURE MEDICINE

Estrogen therapy for hereditary haemorrhagic telangiectasia (HHT): Effects of raloxifene, on Endoglin and ALK1 expression in endothelial cells

(2010) Virginia Albiñana et al.   THROMBOSIS AND HAEMOSTASIS

Expression of vascular endothelial growth factor is coordinately regulated by the activin-like kinase receptors 1 and 5 in endothelial cells

(2009) E. S. Shao et al.   BLOOD

Endoglin plays distinct roles in vascular smooth muscle cell recruitment and regulation of arteriovenous identity during angiogenesis

(2009) Maria L. Mancini et al.   DEVELOPMENTAL DYNAMICS

Shortened ALK1 regulatory fragment maintains a specific activity in arteries feeding ischemic tissues

(2009) X Li et al.   GENE THERAPY

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

(2009) M. E. Faughnan et al.   JOURNAL OF MEDICAL GENETICS

Antiestrogen therapy for hereditary hemorrhagic telangiectasia: A double-blind placebo-controlled clinical trial

(2009) Eitan Yaniv et al.   LARYNGOSCOPE

Endoglin in angiogenesis and vascular diseases

(2008) Peter ten Dijke et al.   ANGIOGENESIS

Endoglin (CD105) Expression Is Regulated by the Liver X Receptor Alpha (NR1H3) in Human Trophoblast Cell Line JAR1

(2008) Joëlle Henry-Berger et al.   BIOLOGY OF REPRODUCTION

Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH

(2008) Marwa Mahmoud et al.   LABORATORY INVESTIGATION