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Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.

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September 2024

Intercellular Signaling in Cardiovascular Development and Disease Laboratory, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Melchor Fernández Almagro 3, 28029 Madrid, Spain.

Article Synopsis
  • The cardiac outflow tract (OFT) is essential for linking the heart's ventricles to the arteries and can develop abnormalities like bicuspid aortic valve (BAV), often due to GATA6 gene mutations.
  • Researchers created a mouse model (Gata6STOP/+) using CRISPR-Cas9 that displayed high rates of BAV and other heart defects, demonstrating significant issues in cardiovascular cell behavior and development.
  • The study found that GATA6 plays a crucial role in heart formation, particularly through pathways involving CXCR7, with abnormalities in cell migration and proliferation linked to the observed defects in OFT development.
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