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Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Genome medicine, 2018-07, Vol.10 (1), p.56-56, Article 56

2018

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Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension

Proceedings of the National Academy of Sciences - PNAS, 2021-03, Vol.118 (11), p.1-12

2021

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KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models

International journal of molecular sciences, 2021-05, Vol.22 (9), p.5014

2021

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Heterozygous Null Bone Morphogenetic Protein Receptor Type 2 Mutations Promote SRC Kinase-dependent Caveolar Trafficking Defects and Endothelial Dysfunction in Pulmonary Arterial Hypertension

The Journal of biological chemistry, 2015-01, Vol.290 (2), p.960-971

2015

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Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertension

American Journal of Physiology: Cell Physiology, 2014-09, Vol.307 (5), p.C415-C430

2014

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Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension

PloS one, 2013-11, Vol.8 (11), p.e80319-e80319

2013

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Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Respiratory research, 2009-09, Vol.10 (1), p.87-87, Article 87

2009

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Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers

Cell stem cell, 2017-04, Vol.20 (4), p.490-504.e5

2017

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BMPR2 expression is suppressed by signaling through the estrogen receptor

Biology of sex differences, 2012-02, Vol.3 (1), p.6-6

2012

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Pulmonary Hypertension in Children

Clinics in chest medicine, 2024-09, Vol.45 (3), p.685-693

2024

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TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form

The European respiratory journal, 2020-05, Vol.55 (5), p.2000585

2020

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Recent Advances in Pediatric Pulmonary Hypertension: Implications for Diagnosis and Treatment

Clinical therapeutics, 2023-09, Vol.45 (9), p.901-912

2023

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The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension

ERJ open research, 2021-10, Vol.7 (4), p.378

2021

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Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension

Frontiers in medicine, 2020-09, Vol.7, p.540-540

2020

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COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study

ERJ open research, 2022-04, Vol.8 (2), p.725

2022

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When to Offer Genetic Testing for Pulmonary Arterial Hypertension

Canadian journal of cardiology, 2015-04, Vol.31 (4), p.544-547

2015

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Characterisation of paediatric pulmonary hypertensive vascular disease from the PPHNet Registry

The European respiratory journal, 2022-01, Vol.59 (1), p.2003337

2022

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Genetics and precision genomics approaches to pulmonary hypertension

The European respiratory journal, 2024-10, Vol.64 (4), p.2401370

2024

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Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

The European respiratory journal, 2019-08, Vol.54 (2), p.1801965

2019

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Oestrogen inhibition reverses pulmonary arterial hypertension and associated metabolic defects

The European respiratory journal, 2017-08, Vol.50 (2), p.1602337-1602337

2017

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Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension

The European respiratory journal, 2020-04, Vol.55 (4), p.1901761

2020

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Beyond oestrogens: towards a broader evaluation of the hormone profile in pulmonary arterial hypertension

The European respiratory journal, 2018-06, Vol.51 (6), p.1801058-1801058

2018

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Genetics and Mediators in Pulmonary Arterial Hypertension

Clinics in chest medicine, 2007-03, Vol.28 (1), p.43-57

2007

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2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension

KCNK3 Mutation Causes Altered Immune Function in Pulmonary Arterial Hypertension Patients and Mouse Models

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Heterozygous Null Bone Morphogenetic Protein Receptor Type 2 Mutations Promote SRC Kinase-dependent Caveolar Trafficking Defects and Endothelial Dysfunction in Pulmonary Arterial Hypertension

Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertension

Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers

BMPR2 expression is suppressed by signaling through the estrogen receptor

Pulmonary Hypertension in Children

TBX4 syndrome: a systemic disease highlighted by pulmonary arterial hypertension in its most severe form

Recent Advances in Pediatric Pulmonary Hypertension: Implications for Diagnosis and Treatment

The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension

Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension

COL18A1 genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study

When to Offer Genetic Testing for Pulmonary Arterial Hypertension

Characterisation of paediatric pulmonary hypertensive vascular disease from the PPHNet Registry

Genetics and precision genomics approaches to pulmonary hypertension

Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension

Oestrogen inhibition reverses pulmonary arterial hypertension and associated metabolic defects

Cellular sources of interleukin-6 and associations with clinical phenotypes and outcomes in pulmonary arterial hypertension

Beyond oestrogens: towards a broader evaluation of the hormone profile in pulmonary arterial hypertension

Genetics and Mediators in Pulmonary Arterial Hypertension

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