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Article

COL5A1 Variants Cause Aortic Dissection by Activating TGF-β-Signaling Pathway.

Journal of the American Heart Association - 1 Jun 2021

Chen Peng, Yu Bo, Li Zongzhe, Chen Yanghui, Sun Yang, Wang Dao Wen

Abstract excerpt

Background Aortic dissection (AD) is one of the most life-threatening cardiovascular diseases that exhibit high genetic heterogeneity. However, it is unclear whether variants within the COL5A1 gene can cause AD. Therefore, we intend to determine whether COL5A1 is a causative gene of AD. Methods and Results We performed targeted sequencing in 702 patients with unrelated sporadic AD and 163 matched healthy controls...

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Share to Aorta, Thoracic
Share to Aortic Aneurysm, Thoracic
Share to Aortic Dissection

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34041919
DOI: 10.1161/JAHA.120.019276
PMCID: PMC8483548

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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