Associated Papers
Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.
Qin G et al.
Frontiers in Cardiovascular Medicine, 2025
Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.
Jain K et al.
Journal of Clinical Medicine, 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
A case report of isolated right ventricular noncompaction with mutation of ACVRL1: a new cause of noncompaction of ventricular myocardium?
Yu B et al.
Bmc Cardiovascular Disorders, 2023
TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.
Zhang X et al.
Pulmonary Circulation, 2022
Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.
Eichstaedt CA et al.
Respiratory Research, 2022
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R et al.
Orphanet Journal of Rare Diseases, 2020
Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.
Yokokawa T et al.
Internal Medicine (tokyo, Japan), 2020
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU.
Sanford EF et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies, 2019
Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.
Chen Y et al.
Bioscience Reports, 2019
Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome.
Alsheikh B et al.
Cardiology in the Young, 2018
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Yang H et al.
Respiratory Research, 2018
ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation.
Alsina-Sanchís E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families.
Major T et al.
Clinical Genetics, 2016
Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.
Piao C et al.
Clinical Science (london, England : 1979), 2016
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.
Heimdal K et al.
Clinical Genetics, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations.
Hume AN et al.
Molecular and Cellular Biochemistry, 2013
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
Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.
Fontalba A et al.
Bmc Medical Genetics, 2008
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.
Lesca G et al.
European Journal of Human Genetics : Ejhg, 2008
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
Functional analysis of mutations in the kinase domain of the TGF-beta receptor ALK1 reveals different mechanisms for induction of hereditary hemorrhagic telangiectasia.
Gu Y et al.
Blood, 2006
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.
Lenato GM et al.
Human Mutation, 2006
Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood.
Harrison RE et al.
Circulation, 2005
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
Lesca G et al.
Human Mutation, 2004
Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison RE et al.
Journal of Medical Genetics, 2003
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Disease-associated mutations in conserved residues of ALK-1 kinase domain.
Abdalla SA et al.
European Journal of Human Genetics : Ejhg, 2003
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.
Olivieri C et al.
Journal of Medical Genetics, 2002
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.
Zhang X et al.
Pulmonary Circulation, 0