ArticleHuman mutation2009
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.
Article in Human mutation, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 111 citations in OpenAlex.
- Breast Cancer Reveals LatentCirculation · 2026Article
- Sex-specific insights in atherosclerosis and pulmonary arterial hypertension: an overlooked comorbidity.Frontiers in cardiovascular medicine · 2026Review
- BMPR2 Loss Activates AKT by Disrupting DLL4/NOTCH1 and PPARγ Signaling in Pulmonary Arterial Hypertension.International journal of molecular sciences · 2024Article
- Sex-biased TGFβ signalling in pulmonary arterial hypertension.Cardiovascular research · 2023Review
- Multiomics Network Medicine Approaches to Precision Medicine and Therapeutics in Cardiovascular Diseases.Arteriosclerosis, thrombosis, and vascular biology · 2023Review
- Gender dimension in cardio-pulmonary continuum.Frontiers in cardiovascular medicine · 2022Review
- Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension.The application of clinical genetics · 2021Review
- Pulmonary Hypertension in Obese Mice Is Accompanied by a Reduction in PPAR-γ Expression in Pulmonary Artery.Frontiers in endocrinology · 2021Article
- 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes · 2020Review
- The Role of Estrogen Receptors in Cardiovascular Disease.International journal of molecular sciences · 2020Review
- The role of genomics and genetics in pulmonary arterial hypertension.Global cardiology science & practice · 2020Review
- Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension.BMC medical genetics · 2019Article
- FHIT, a Novel Modifier Gene in Pulmonary Arterial Hypertension.American journal of respiratory and critical care medicine · 2019Article
- Genetics and genomics of pulmonary arterial hypertension.The European respiratory journal · 2019Review
- Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.BMC medical genetics · 2018Article
- Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Nature communications · 2018Article
- Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves' disease patients.Journal of cellular and molecular medicine · 2018Article
- The Role of Neutrophils and Neutrophil Elastase in Pulmonary Arterial Hypertension.Frontiers in medicine · 2018Review
- Genetics of Pulmonary Arterial Hypertension.Seminars in respiratory and critical care medicine · 2017Review
- Codependence of Bone Morphogenetic Protein Receptor 2 and Transforming Growth Factor-β in Elastic Fiber Assembly and Its Perturbation in Pulmonary Arterial Hypertension.Arteriosclerosis, thrombosis, and vascular biology · 2017Article
2 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Familial pulmonary arterial hypertension (FPAH) is a progressive, fatal disease caused by mutations in the bone morphogenetic protein receptor type 2 gene (BMPR2). FPAH is inherited as an autosomal dominant trait, and shows incomplete penetrance in that many with BMPR2 mutations do not develop FPAH, suggesting a role for, as yet unidentified, modifier genes in disease penetrance. We hypothesized that variable levels of expression of the wild-type (WT) BMPR2 allele could act as a modifier and influence penetrance of FPAH. WT BMPR2 levels were determined by real-time PCR analysis in lymphoblastoid (LB) cell lines derived from normal controls and individuals with FPAH. The FPAH kindreds analyzed carried mutations that result in the activation of nonsense-mediated decay (NMD) pathway, which leads to the degradation of the mutant RNA, thus ensuring that only the WT BMPR2 transcripts will be detected in the real-time assay. Our data show that WT and mutant BMPR2 levels can be reproducibly measured in patient-derived LB cell lines, and that unaffected mutation carrier-derived LB cell lines have higher levels of WT BMPR2 transcripts than FPAH patient-derived LB cell lines (p<or=0.005). Our findings suggest that the levels of expression of WT BMPR2 allele transcripts is important in the pathogenesis of FPAH caused by NMD(+) mutations. Furthermore, our study illustrates a novel application of lymphoblastoid cell lines in the study of PAH, especially important because the affected site, that is, the lung, is not available for unaffected mutation carriers.
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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.