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Updated: Oct 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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患者特异性TBX5-G125R变异诱导严重的转录失调和心房功能障碍

Antoinette F van Ouwerkerk1,2, Fernanda M Bosada1, Karel van Duijvenboden1

  • 1Department of Medical Biology (A.F.vO., F.M.B., K.vD., K.T.S., V.W., J-S.U., A.V.P., P.B., A.O.V., B.J.B., V.M.C.), University of Amsterdam, The Netherlands.

Circulation
|February 3, 2022
PubMed
概括

导致霍尔特-奥拉姆综合征的TBX5基因变异通过改变心脏基因调节导致心房动. 这项研究揭示了TBX5-p.G125R变种如何影响心房表观基因组和转录基因组,导致心律失常.

关键词:
T盒转录因子 5心律不整,心脏病遗传学肌细胞,心脏序列分析,RNA转录因子

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