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Expression quantitative trait loci (eQTL) can provide a link between disease susceptibility variants discovered by genetic association studies and biology. To date, eQTL mapping studies have been primarily conducted in healthy...

Blood eQTL expression quantitative trait locus Genetics pulmonary arterial hypertension Base Sequence Familial Primary Pulmonary Hypertension Female Genetic Association Studies Genetic Predisposition to Disease Genome Genome-Wide Association Study Humans Male Polymorphism Single Nucleotide pulmonary arterial hypertension Quantitative Trait Loci Sequence Analysis RNA Transcriptome

Cohort Studies Familial Primary Pulmonary Hypertension Humans Hypertension Pulmonary Mutation Protein Serine-Threonine Kinases

Heterozygous mutations in BMPR2 (bone morphogenetic protein (BMP) receptor type II) cause pulmonary arterial hypertension. BMPRII is a receptor for over 15 BMP ligands, but why BMPR2 mutations cause lung-specific pathology is...

Bone Morphogenetic Protein Receptors Type II Bone Morphogenetic Proteins Cell Membrane Crystallography X-Ray Familial Primary Pulmonary Hypertension Humans pulmonary arterial hypertension Signal Transduction

Adult Bone Morphogenetic Protein Receptors Type II Familial Primary Pulmonary Hypertension Female Humans Hypertension Pulmonary Lung Transplantation Male Middle Aged Mutation Prognosis Proportional Hazards Models Survival Rate Young Adult

Since 2000 there have been major advances in our understanding of the genetic and genomics of pulmonary arterial hypertension (PAH), although there remains much to discover. Based on existing knowledge, around 25-30% of patients...

Animals Bone Morphogenetic Protein Receptors Type II Familial Primary Pulmonary Hypertension Genetic Predisposition to Disease Genome-Wide Association Study Genomics Humans Hypertension Pulmonary Mutation

AIMS: Endothelial cell (EC) dysfunction drives the initiation and pathogenesis of pulmonary arterial hypertension (PAH). We aimed to characterize EC dynamics in PAH at single-cell resolution. METHODS AND RESULTS: We carried out...

Endothelial Cells PAH pulmonary hypertension Single-cell RNA-seq Animals Endothelial Cells Familial Primary Pulmonary Hypertension Humans Hypertension Pulmonary Mice pulmonary arterial hypertension Pulmonary Artery Rats Sequence Analysis RNA

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious variation within components of the transforming growth factor-β pathway, particularly the bone morphogenetic protein type 2 receptor...

Adenosine Triphosphatases Adult Aquaporin 1 Base Sequence Bone Morphogenetic Protein Receptors Type II Case-Control Studies Familial Primary Pulmonary Hypertension Female Gene Expression Regulation Genetic Predisposition to Disease Growth Differentiation Factor 2 Growth Differentiation Factors HEK293 Cells Humans Male Membrane Transport Proteins Models Molecular Mutation Prognosis SOXF Transcription Factors Signal Transduction Transforming Growth Factor beta whole genome sequencing

Idiopathic pulmonary arterial hypertension (IPAH) is a rare but fatal disease diagnosed by right heart catheterisation and the exclusion of other forms of pulmonary arterial hypertension, producing a heterogeneous population...

5-Aminolevulinate Synthetase Down-Regulation Familial Primary Pulmonary Hypertension Gene Expression Profiling HLA-DP beta-Chains Humans pulmonary arterial hypertension Transcriptome

Adult Aged Aged 80 and over Bone Morphogenetic Protein Receptors Type II Familial Primary Pulmonary Hypertension Female Humans Induced Pluripotent Stem Cells Male Middle Aged Mutation Phenotype

Familial Primary Pulmonary Hypertension Humans Hypertension Pulmonary

ADAM10 Protein Animals Bone Morphogenetic Protein 6 Bone Morphogenetic Protein Receptors Type II Familial Primary Pulmonary Hypertension Female Humans Male Mice Mice Inbred C57BL Myocytes Smooth Muscle Pulmonary Artery Rats Receptor Notch2 Receptor Notch3 Signal Transduction Tumor Necrosis Factor-alpha

Pulmonary arterial hypertension (PAH) is a rare but fatal disease. Current treatments increase life expectancy but have limited impact on the progressive pulmonary vascular remodelling that drives PAH. Osteoprotegerin (OPG) is...

Animals Antibodies Cell Movement Disease Models Animal Familial Primary Pulmonary Hypertension Humans Male Mice Mice Inbred C57BL Myocytes Smooth Muscle Osteoprotegerin Protein Binding Pulmonary Artery Rats Rats Wistar Vascular Remodeling

Pulmonary arterial hypertension (PAH) is characterized by dysregulated pulmonary artery endothelial cell (PAEC) proliferation, apoptosis and permeability. Loss-of-function mutations in the bone morphogenetic protein receptor...

Bone Morphogenetic Protein Receptors Type II Cell Line Cell Membrane Cells Cultured Chloroquine Endothelial Cells Familial Primary Pulmonary Hypertension Growth Differentiation Factor 2 Growth Differentiation Factors Humans Hypertension Pulmonary Lysosomes Mutation Pulmonary Artery RNA Small Interfering Signal Transduction Smad Proteins Transcription Genetic

Adolescent Adult Apoptosis Cells Cultured Child Child Preschool Exome Familial Primary Pulmonary Hypertension Female Humans Infant Male Muscle Smooth Vascular Mutation Pedigree Pulmonary Artery Signal Transduction Ubiquitin-Protein Ligases Exome Sequencing Young Adult

Familial Primary Pulmonary Hypertension Humans Hypertension Pulmonary Interleukin-6 Phenotype pulmonary arterial hypertension

BACKGROUND: Pulmonary arterial hypertension (PAH) is characterized by abnormal growth and enhanced glycolysis of pulmonary artery endothelial cells. However, the mechanisms underlying alterations in energy production have not...

Endothelial Cells endothelial progenitor cells Glycolysis Hypertension Pulmonary metabolism MicroRNAs Animals Antagomirs Bone Morphogenetic Protein Receptors Type II Cell Proliferation Cells Cultured Disease Models Animal Endothelial Cells Familial Primary Pulmonary Hypertension Glycolysis Heterogeneous-Nuclear Ribonucleoproteins Humans Lim Kinases MicroRNAs Monocarboxylic Acid Transporters Polypyrimidine Tract-Binding Protein Pyruvate Kinase RNA Interference RNA Small Interfering Rats Smad1 Protein Smad5 Protein Symporters

The pathogenesis of idiopathic pulmonary arterial hypertension (IPAH) is not fully understood, but evidence is accumulating that immune dysfunction plays a significant role. We previously reported that 31-week-old...

BMPR2 Tnfaip3 Toll-like receptor Dendritic Cells Inflammation pulmonary arterial hypertension Animals Bone Morphogenetic Protein Receptors Type II Dendritic Cells Familial Primary Pulmonary Hypertension Gene Deletion Heart Ventricles Humans Immunity Innate Mice Mutation Toll-Like Receptor 4 Tumor Necrosis Factor alpha-Induced Protein 3

Pulmonary arterial hypertension (PAH) is characterized by abnormal remodeling and occlusion of pre-capillary arterioles in the lung with a subsequent increase in pulmonary vascular resistance. This can lead to right ventricular...

Biomarkers Case-Control Studies Chronic Disease Familial Primary Pulmonary Hypertension Female Humans Leukocyte Elastase Male Middle Aged Pulmonary Artery Thromboembolism alpha 1-Antitrypsin