STRA6 is essential for induction of vascular smooth muscle lineages in human embryonic cardiac outflow tract development.

Cardiovascular research(2023)

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摘要
Dysregulation of the RA signaling can cause cardiac OFT defects, however, the detailed mechanisms by which STRA6 mutations lead to cardiac malformations have remained unclear. Our study highlights a critical role of human-specific STRA6 progenitors for proper induction of vascular SMCs that is essential for normal OFT formation. These results shed light on novel and human-specific CHD programs, driven by STRA6 mutations. Thus, our study paves the way for further studies of deciphering the origins and the disease mechanisms of a rare genetic disorder Matthew-Wood syndrome, which would help us develop diagnosis, prevention, and novel treatment for the disease.
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关键词
Congenital heart disease,Heart development,Cardiac outflow tract,Matthew-Wood syndrome,Retinoic acid,Single-cell RNA-seq,Smooth muscle cell
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