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Article

Targeted Sequencing of Human Aorta Tissue Reveals Undiagnosed Heritable Thoracic Aortic Disease.

Interdisciplinary cardiovascular and thoracic surgery - 5 May 2026

Lee Ha, Kim Yoonjung, Kim Myeong Su, Lee Kyung-A, Song Suk-Won

Abstract excerpt

OBJECTIVES: To diagnose undiagnosed heritable thoracic aortic disease (HTAD) using targeted next-generation sequencing technology on human aorta tissue obtained from a single-centre biobank. METHODS: From May 2016 to November 2021, 622 patients undergoing surgical repair for thoracic aortic aneurysm or acute aortic syndrome donated blood or tissue samples to the research biobank. A total of 134 aortic tissue...

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Topics

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Share to Aorta, Thoracic
Share to Aortic Aneurysm, Thoracic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Share to High-Throughput Nucleotide Sequencing

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Source

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Identifiers

PMID: 41999216
DOI: 10.1093/icvts/ivag102
PMCID: PMC13148960

Genes

ACTA2
ACVRL1
COL11A1
COL3A1
FBN1
FBN2
FLNA
MYH11
PKD2
SMAD3
SMAD6
THSD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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