ReviewHuman mutation2015
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Review in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
133 citing papers in PubMed, 3 syntheses or guidelines pooled it, 226 citations in OpenAlex.
- New progress in diagnosis and treatment of pulmonary arterial hypertension.Journal of cardiothoracic surgery · 2022Pooled it
- A systematic review of genetic mutations in pulmonary arterial hypertension.BMC medical genetics · 2017Pooled it
- BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis.The Lancet. Respiratory medicine · 2016Pooled it
- FKBP12 determines ligand-specific SMAD signaling in individual living endothelial cells.iScience · 2026Article
- Response to: Comment on: The renin-angiotensin system in models of pulmonary arterial hypertension vs primary hypertension.Hypertension research : official journal of the Japanese Society of Hypertension · 2026Article
- A Case of High Pressure and High Stakes: Pulmonary Arterial Hypertension Emergence in an Infant With Hereditary Hemorrhagic Telangiectasia.Pulmonary circulation · 2026Article
- Molecular-Genetic Basis of Pulmonary Arterial Hypertension (PAH).Current issues in molecular biology · 2026Review
- The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.Pediatric cardiology · 2026Observational
- Case Report: Pulmonary artery biopsy findings in a patient with a BMPR2 variant-associated pulmonary arterial hypertension.Frontiers in medicine · 2026Article
- Recurrent Seizure-Like Events in a Toddler With BMPR2-Related Pulmonary Arterial Hypertension.Ochsner journal · 2026Article
- Targeted delivery ofActa pharmaceutica Sinica. B · 2025Article
- Genetic screening in cohort of Egyptian patients with pulmonary arterial hypertension disease.Irish journal of medical science · 2025Article
- A Comprehensive Review Exploring the Role of Bone Morphogenetic Proteins [BMP]: Biological Mechanisms.Current issues in molecular biology · 2025Review
- SMAD5 as a novel gene for familial pulmonary arterial hypertension.Clinical science (London, England : 1979) · 2025Article
- A new day has come: Sotatercept for the treatment of pulmonary arterial hypertension.The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation · 2025Review
- Adaptation of ACMG/AMP Guidelines for Clinical Classification ofHuman mutation · 2025Article
- Dissecting the lung transcriptome of pulmonary fibrosis-associated pulmonary hypertension.American journal of physiology. Lung cellular and molecular physiology · 2024Article
- The hepcidin-ferroportin axis influences mitochondrial function, proliferation, and migration in pulmonary artery endothelial and smooth muscle cells.Pulmonary circulation · 2024Article
- Transcriptome analyses reveal common immune system dysregulation in PAH patients andPulmonary circulation · 2024Article
- Engineering APOBEC3A deaminase for highly accurate and efficient base editing.Nature chemical biology · 2024Article
73 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 17 institutions in 6 countries.
Funding
Abstract
Pulmonary arterial hypertension (PAH) is an often fatal disorder resulting from several causes including heterogeneous genetic defects. While mutations in the bone morphogenetic protein receptor type II (BMPR2) gene are the single most common causal factor for hereditary cases, pathogenic mutations have been observed in approximately 25% of idiopathic PAH patients without a prior family history of disease. Additional defects of the transforming growth factor beta pathway have been implicated in disease pathogenesis. Specifically, studies have confirmed activin A receptor type II-like 1 (ACVRL1), endoglin (ENG), and members of the SMAD family as contributing to PAH both with and without associated clinical phenotypes. Most recently, next-generation sequencing has identified novel, rare genetic variation implicated in the PAH disease spectrum. Of importance, several identified genetic factors converge on related pathways and provide significant insight into the development, maintenance, and pathogenetic transformation of the pulmonary vascular bed. Together, these analyses represent the largest comprehensive compilation of BMPR2 and associated genetic risk factors for PAH, comprising known and novel variation. Additionally, with the inclusion of an allelic series of locus-specific variation in BMPR2, these data provide a key resource in data interpretation and development of contemporary therapeutic and diagnostic tools.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.