ReviewHuman genetics2014
The genetic basis of pulmonary arterial hypertension.
Review in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- Role of innate immunity-triggered pathways in the pathogenesis of Sickle Cell Disease: a meta-analysis of gene expression studies.Scientific reports · 2015Pooled it
- Potassium channels in vascular smooth muscle cells.Physiological reviews · 2026Review
- Transcriptomic profiling of the sex-linked biological pathways of severe pulmonary arterial hypertension associated with endothelial cell caveolin-1 depletion and chronic hypoxia.Frontiers in physiology · 2026Article
- Exploring the pathogenesis of pulmonary vascular disease.Frontiers in medicine · 2024Review
- Use of the index of pulmonary vascular disease for predicting long-term outcome of pulmonary arterial hypertension associated with congenital heart disease.Frontiers in cardiovascular medicine · 2023Article
- Biallelic variants in the calpain regulatory subunitGenetics in medicine open · 2023Article
- Review
- The Platelet-Derived Growth Factor Pathway in Pulmonary Arterial Hypertension: Still an Interesting Target?Life (Basel, Switzerland) · 2022Review
- Risk factors for hospitalisation due to respiratory syncytial virus infection in children receiving prophylactic palivizumab.European journal of pediatrics · 2022Article
- The Evolution of Risk Assessment in Pulmonary Arterial Hypertension.Methodist DeBakey cardiovascular journal · 2021Article
- Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.Journal of the American Heart Association · 2020Article
- Pulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease.Heart and vessels · 2020Article
- Saltwater fish consumption pattern and incidence of hypertension in adults: A study on the population of Gresik coast, Indonesia.Journal of public health research · 2020Article
- Idiopathic, heritable and veno-occlusive pulmonary arterial hypertension in childhood: computed tomography angiography features in the initial assessment of the disease.Pediatric radiology · 2019Article
- ALK phosphorylates SMAD4 on tyrosine to disable TGF-β tumour suppressor functions.Nature cell biology · 2019Article
- Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.Molecular genetics & genomic medicine · 2018Review
- Connexin 43 Plays a Role in Pulmonary Vascular Reactivity in Mice.International journal of molecular sciences · 2018Article
- Diagnosis, Evaluation and Treatment of Pulmonary Arterial Hypertension in Children.Children (Basel, Switzerland) · 2018Review
- Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders.Molecular cytogenetics · 2018Article
- A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.BMC pulmonary medicine · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Pulmonary arterial hypertension (PAH) is a rare disease characterized by distinctive changes in pulmonary arterioles that lead to progressive elevation of pulmonary artery pressure, pulmonary vascular resistance, right ventricular failure, and a high mortality rate. The etiology of PAH is heterogeneous and incompletely understood. Based on clinical classification, WHO Group 1 PAH includes sporadic disease (idiopathic PAH), inherited PAH (heritable PAH), and association with certain medical conditions (associated PAH). Genes play an important role in idiopathic and heritable PAH. Mutations in bone morphogenetic protein receptor 2 (BMPR2), a member of the transforming growth factor β (TGFβ) superfamily of receptors, have been identified in 70 % of cases of familial PAH, as well as in 10-40 % of cases of idiopathic PAH. Mutations in ALK-1, ENG, SMAD4 and SMAD8, other TGFβ family members, are additional rare causes of PAH. CAV1 regulates SMAD2/3 phosphorylation, and mutations in CAV1 are a rare cause of PAH. KCNK3 is a member of the two-pore domain potassium channels expressed in pulmonary artery smooth muscle cells, and mutations in KCNK3 are a rare cause of both familial and IPAH. The genetics of PAH are complex due to incomplete penetrance and genetic heterogeneity. In addition to rare mutations as a monogenic cause of HPAH, common variants in cerebellin 2 (CBLN2) increase the risk of PAH by approximately twofold. PAH in children is much more heterogeneous than in adults and can be associated with several genetic syndromes, specifically syndromes with congenital heart disease, vascular disease, and hepatic disease. Clinical genetic testing is available for PAH and should be considered in families to allow for more definitive risk stratification and allow for reproductive planning.
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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.