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Article

Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.

Disease models & mechanisms - 1 Sept 2024

Piñeiro-Sabarís Rebeca, MacGrogan Donal, de la Pompa José Luis

Abstract excerpt

The cardiac outflow tract (OFT) transiently links the ventricles to the aortic sac and forms the arterial valves. Abnormalities in these valves, such as bicuspid aortic valve (BAV), are common congenital anomalies. GATA6-inactivating variants cause cardiac OFT defects and BAV, but their mechanisms are unclear. We generated Gata6STOP/+ mice using CRISPR-Cas9, which show highly penetrant BAV (70%) and membranous...

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Share to Aortic Valve
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39253784
DOI: 10.1242/dmm.050934
PMCID: PMC11413932

Genes

GATA6
ISL1

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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