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Molecular genetic framework underlying pulmonary arterial hypertension

Nature reviews cardiology, 2020-02, Vol.17 (2), p.85-95

2020

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Genetics and Genomics of Pulmonary Arterial Hypertension

Journal of the American College of Cardiology, 2013-12, Vol.62 (25), p.D13-D21

2013

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Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension

Circulation (New York, N.Y.), 2010-08, Vol.122 (9), p.920-927

2010

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Genetics and Genomics of Pulmonary Arterial Hypertension

Journal of the American College of Cardiology, 2009-06, Vol.54 (1), p.S32-S42

2009

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Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension

Nature medicine, 2015-07, Vol.21 (7), p.777-785

2015

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Human mutation, 2015-12, Vol.36 (12), p.1113-1127

2015

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Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Journal of medical genetics, 2022-09, Vol.59 (9), p.906-911

2022

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Nature communications, 2018-04, Vol.9 (1), p.1416-16, Article 1416

2018

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2020-03, Vol.201 (5), p.575-585

2020

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Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era

Genes, 2021-11, Vol.12 (11), p.1798

2021

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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

American journal of human genetics, 2011-05, Vol.88 (5), p.574-585

2011

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Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

Human mutation, 2011-12, Vol.32 (12), p.1385-1389

2011

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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Genetics in medicine, 2023-11, Vol.25 (11), p.100925-100925, Article 100925

2023

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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Genome medicine, 2021-05, Vol.13 (1), p.80-18, Article 80

2021

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Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

Circulation (New York, N.Y.), 2012-08, Vol.126 (9), p.1099-1109

2012

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572-581

2015

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Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Human mutation, 2011-02, Vol.32 (2), p.231-239

2011

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BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

American journal of human genetics, 2001-01, Vol.68 (1), p.92-102

2001

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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Nature genetics, 2000-09, Vol.26 (1), p.81-84

2000

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Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension

Genes, 2020-11, Vol.11 (11), p.1328

2020

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Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

The New England journal of medicine, 2001-08, Vol.345 (5), p.325-334

2001

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Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Circulation. Genomic and precision medicine, 2021-02, Vol.14 (1), p.e003155-e003155

2021

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Genetics and Genomics of Pulmonary Arterial Hypertension

2022

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Molecular genetic framework underlying pulmonary arterial hypertension

Genetics and Genomics of Pulmonary Arterial Hypertension

Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension

Genetics and Genomics of Pulmonary Arterial Hypertension

Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

Pulmonary Arterial Hypertension: A Deeper Evaluation of Genetic Risk in the -Omics Era

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Stress Doppler Echocardiography in Relatives of Patients With Idiopathic and Familial Pulmonary Arterial Hypertension : Results of a Multicenter European Analysis of Pulmonary Artery Pressure Response to Exercise and Hypoxia

Impaired Natural Killer Cell Phenotype and Function in Idiopathic and Heritable Pulmonary Arterial Hypertension

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension

BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension

Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension

Clinical and Molecular Genetic Features of Pulmonary Hypertension in Patients with Hereditary Hemorrhagic Telangiectasia

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

Genetics and Genomics of Pulmonary Arterial Hypertension

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