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Updated: Oct 4, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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患者特異のTBX5-G125R変異は,重度の転写異常と心房機能不全を引き起こす

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
まとめ

ホルト・オラム症候群を引き起こすTBX5遺伝子の変異は,心臓遺伝子の調節を変化させ,心房細動を引き起こす. この研究は,TBX5-p.G125Rの変異体が心房の表皮質と転写体にどのように影響し,不律を引き起こすかを明らかにしています.

キーワード:
Tボックスの転写因数5心臓発作エピジェネシス 遺伝筋細胞,心臓配列分析,RNA転写因子

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