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Updated: Jul 4, 2025

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受损的转录-mRNA输出因子THOC2会导致R循环积累,DNA损伤和不良的神经发育

Rudrarup Bhattacharjee1,2, Lachlan A Jolly2,3, Mark A Corbett1,2

  • 1Adelaide Medical School, The University of Adelaide, Adelaide, SA, 5005, Australia.

Nature communications
|February 8, 2024
PubMed
概括

THOC2基因的突变会破坏大脑发育,导致智力障碍和其他神经发育问题. 鼠标模型显示R循环积累和DNA损伤是THOC2综合征的关键病理机制.

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