ArticleJournal of the American Heart Association2020
Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.
Article in Journal of the American Heart Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Preliminary identification of the MiR-548ah-5p/THBD axis for heart failure via DirectTarget causal framework and bioinformatics analysis.European journal of medical research · 2025Article
- Observational
- Congenital Thrombophilia in Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Systematic Review of Prevalence, Clinical Phenotype, and Surgical Outcomes.Biomedicines · 2025Review
- Rare variants inERJ open research · 2025Article
- Impact of the Transforming Growth Factor β (TGF-β) on Brain Aneurysm Formation and Development: A Literature Review.Cellular and molecular neurobiology · 2025Review
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- KLF13 Loss-of-Function Mutations Underlying Familial Dilated Cardiomyopathy.Journal of the American Heart Association · 2022Article
- PRRX1 Loss-of-Function Mutations Underlying Familial Atrial Fibrillation.Journal of the American Heart Association · 2021Article
- Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.Journal of the American Heart Association · 2020Article
Corrections and comments
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background Although chronic thromboembolic pulmonary hypertension (CTEPH) and acute pulmonary embolism (APE) share some clinical manifestations, a limited proportion of patients with CTEPH have a history of APE. Moreover, in histopathologic studies, it has been revealed that pulmonary vasculature lesions similar to pulmonary arterial hypertension existed in patients with CTEPH. Thus, it remains unknown whether these 3 disorders also share genetic backgrounds. Methods and Results Whole exome screening was performed with DNA isolated from 51 unrelated patients with CTEPH of Japanese ancestry. The frequency of genetic variants associated with pulmonary arterial hypertension or APE in patients with CTEPH was compared with those in the integrative Japanese Genome Variation Database 3.5KJPN. Whole exome screening analysis showed 17 049 nonsynonymous variants in patients with CTEPH. Although we found 6 nonsynonymous variants that are associated with APE in patients with CTEPH, there was no nonsynonymous variant associated with pulmonary arterial hypertension. Patients with CTEPH with a history of APE had nonsynonymous variants of
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