ArticleInternational journal of molecular sciences2020
Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- ImpairedERJ open research · 2026Article
- How Genomic and Structural Context Could Shape JAK-STAT Variant Pathogenicity.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2026Article
- Prevalence, Clinical Features, and Treatment Response of Chronic Thromboembolic Pulmonary Hypertension in Patients With Myeloproliferative Neoplasm.Circulation reports · 2026Article
- Beyond Thrombosis: Pulmonary Hypertension and Heart Failure in Patients With Myeloproliferative Neoplasms: JACC: CardioOncology State-of-the-Art Review.JACC. CardioOncology · 2025Review
- Spotlight on amino acid changing mutations in the JAK-STAT pathway: from disease-specific mutation to general mutation databases.Scientific reports · 2025Article
- Clonal Hematopoiesis in Chronic Thromboembolic Pulmonary Hypertension.Journal of the American Heart Association · 2024Article
- Myeloproliferative Neoplasms and Cardiovascular Disease: A Review.Current treatment options in oncology · 2024Review
- Cardiovascular Risk in Philadelphia-Negative Myeloproliferative Neoplasms: Mechanisms and Implications-A Narrative Review.Current issues in molecular biology · 2024Review
- Genetically Identifying the "Thromboembolic" in Chronic Thromboembolic Pulmonary Hypertension.American journal of respiratory and critical care medicine · 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
- Antiproliferative effect of selexipag active metabolite MRE-269 on pulmonary arterial smooth muscle cells from patients with chronic thromboembolic pulmonary hypertension.Pulmonary circulation · 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
- Cardiovascular Disease in Myeloproliferative Neoplasms:JACC. CardioOncology · 2022Review
- Reduction ofGenes · 2022Article
- Article
- Successful treatment for a patient with chronic thromboembolic pulmonary hypertension comorbid with essential thrombocythemia with the JAK2 V617F mutation by balloon pulmonary angioplasty.Respiratory medicine case reports · 2020Article
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease which is often caused by recurrent emboli. These are also frequently found in patients with myeloproliferative diseases. While myeloproliferative diseases can be caused by gene defects, the genetic predisposition to CTEPH is largely unexplored. Therefore, the objective of this study was to analyse these genes and further genes involved in pulmonary hypertension in CTEPH patients. A systematic screening was conducted for pathogenic variants using a gene panel based on next generation sequencing. CTEPH was diagnosed according to current guidelines. In this study, out of 40 CTEPH patients 4 (10%) carried pathogenic variants. One patient had a nonsense variant (c.2071A>T p.Lys691*) in the
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