Impaired Human Cardiac Cell Development due to NOTCH1 Deficiency.

Circulation research(2023)

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摘要
is essential for human ventricular-like cardiomyocyte differentiation and proliferation through balancing cell fate determination of cardiac mesoderm and modulating cell cycle progression. Because first heart field progenitors primarily contribute to the left ventricle, we speculate that pathogenic variants lead to biased differentiation of first heart field progenitors, blocked ventricular-like cardiomyocyte differentiation, and defective cardiomyocyte proliferation, which collaboratively contribute to left ventricular hypoplasia in hypoplastic left heart syndrome.
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关键词
NOTCH1,cardiac lineage differentiation,cardiomyocyte proliferation,hypoplastic left heart syndrome,induced pluripotent stem cells,mesoderm,single-cell RNA-seq
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