Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice.
Bibliographic Details
| Main Authors: |
Gaëlle Odelin,
Adèle Faucherre,
Damien Marchese,
Amélie Pinard,
Hager Jaouadi,
Solena Le Scouarnec,
FranceGenRef Consortium,
Raphaël Chiarelli,
Younes Achouri,
Emilie Faure,
Marine Herbane,
Alexis Théron,
Jean-François Avierinos,
Chris Jopling,
Gwenaëlle Collod-Béroud,
René Rezsohazy,
Stéphane Zaffran |
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| Format: | Article
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| Language: | English |
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| Published: |
Nature Portfolio
2023-03-01
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| Series: | Nature Communications
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| Online Access: | https://doi.org/10.1038/s41467-023-37110-x
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