FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

doi:10.1172/JCI83778

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Article

FOXE3 mutations predispose to thoracic aortic aneurysms and dissections.

The Journal of clinical investigation - 1 Mar 2016

Kuang Shao-Qing, Medina-Martinez Olga, Guo Dong-Chuan, Gong Limin, Regalado Ellen S, Reynolds Corey L, Boileau Catherine, Jondeau Guillaume, Prakash Siddharth K, Kwartler Callie S, Zhu Lawrence Yang, Peters Andrew M, Duan Xue-Yan, Bamshad Michael J, Shendure Jay, Nickerson Debbie A, Santos-Cortez Regie L, Dong Xiurong, Leal Suzanne M, Majesky Mark W, Swindell Eric C, Jamrich Milan, Milewicz Dianna M

Abstract excerpt

The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional response to these forces. Here, we describe mutations in the forkhead transcription factor FOXE3 that predispose mutation-bearing individuals to TAAD. We performed...

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Identifiers

PMID: 26854927
DOI: 10.1172/JCI83778
PMCID: PMC4767350

Genes

FOXE3

Variants

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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