Associated Papers
Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Ressler AK et al.
Human Genomics, 2025
Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.
Jiang DJ et al.
International Journal of Cardiology, 2025
Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).
Montani D et al.
American Journal of Respiratory and Critical Care Medicine, 2025
Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.
Qin G et al.
Frontiers in Cardiovascular Medicine, 2025
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Romano F et al.
Frontiers in Genetics, 2025
Case Report: Shared manifestation, distinct etiologies: severe pulmonary hypertension in both mother and neonate.
Wang S et al.
Frontiers in Pediatrics, 2025
De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia.
Beslow LA et al.
Pediatric Neurology, 2024
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 2023
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Zhao S et al.
Nature Communications, 2023
Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia.
Iwasa T et al.
Journal of Clinical Medicine, 2023
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
Zhao S et al.
Biorxiv : the Preprint Server for Biology, 2023
Human umbilical cord mesenchymal stem cell-derived treatment of severe pulmonary arterial hypertension.
Hansmann G et al.
Nature Cardiovascular Research, 2022
TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.
Zhang X et al.
Pulmonary Circulation, 2022
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.
Agnew C et al.
Nature Communications, 2021
An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.
De Luca C et al.
American Journal of Medical Genetics. Part A, 2020
Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.
Yokokawa T et al.
Internal Medicine (tokyo, Japan), 2020
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.
Snellings DA et al.
American Journal of Human Genetics, 2019
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Tian Y et al.
Scientific Reports, 2019
Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.
Duran D et al.
Neuron, 2019
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.
Pfarr N et al.
Respiratory Research, 2013
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
Chida A et al.
The American Journal of Cardiology, 2012
Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.
Best DH et al.
Journal of Medical Genetics, 2011
Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations.
Ricard N et al.
Blood, 2010
Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.
Fujiwara M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.
Olivieri C et al.
Journal of Human Genetics, 2007
Treatment with low-dose tacrolimus inhibits bleeding complications in a patient with hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension.
Sommer N et al.
Pulmonary Circulation, 0
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.
Zhang X et al.
Pulmonary Circulation, 0