ArticleScientific reports2019
A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Molecular-Genetic Basis of Pulmonary Arterial Hypertension (PAH).Current issues in molecular biology · 2026Review
- Review
- The role of polyamine metabolism in cellular function and physiology.American journal of physiology. Cell physiology · 2024Review
- The Intersection of HIV and Pulmonary Vascular Health: From HIV Evolution to Vascular Cell Types to Disease Mechanisms.Journal of vascular diseases · 2024Article
- ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport.Cardiovascular research · 2024Article
- Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.Genome biology · 2023Article
- Novel Green Fluorescent Polyamines to Analyze ATP13A2 and ATP13A3 Activity in the Mammalian Polyamine Transport System.Biomolecules · 2023Article
- Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.The European respiratory journal · 2023Article
- Biallelic variants ofJournal of medical genetics · 2022Article
- ATP13A3 facilitates polyamine transport in human pancreatic cancer cells.Scientific reports · 2022Article
- Cryo-EM structures and transport mechanism of human P5B type ATPase ATP13A2.Cell discovery · 2021Article
- CD248+CD8+ T lymphocytes suppress pathological vascular remodeling in human thoracic aortic aneurysms.Experimental biology and medicine (Maywood, N.J.) · 2021Article
- 'There and Back Again'-Forward Genetics and Reverse Phenotyping in Pulmonary Arterial Hypertension.Genes · 2020Review
- Article
- Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.Genes · 2020Article
- CD248 as a novel therapeutic target in pulmonary arterial hypertension.Clinical and translational medicine · 2020Article
- Mutually reinforcing effects of genetic variants and interferon-β 1a therapy for pulmonary arterial hypertension development in multiple sclerosis patients.Pulmonary circulationArticle
- ATP13A3 is a major component of the enigmatic mammalian polyamine transport system.The Journal of biological chemistryArticle
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
The pathogenesis of idiopathic and heritable forms of pulmonary arterial hypertension is still not completely understood, even though several causative genes have been proposed, so that a third of patients remains genetically unresolved. Here we applied a multistep approach to extend identification of the genetic bases of such a disease by searching for novel candidate genes/pathways. Twenty-eight patients belonging to 18 families were screened for BMPR2 mutations and BMPR2-negative samples were tested for 12 additional candidate genes by means of a specific massive parallel sequencing-based assay. Finally, whole exome sequencing was performed on four patients showing no mutations at known disease genes, as well as on their unaffected parents. In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns. Therefore, our results suggest that combining gene panel and whole exome sequencing provides new insights useful for the genetic diagnosis of familial and idiopathic pulmonary arterial hypertension, as well as for the identification of biological pathways that will be potentially targeted by new therapeutic strategies.
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