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同源性iPSC衍生CTBP1突变神经元细胞表现出神经发育缺陷

Suhjin Lee1, Selvamani Vijayalingam2, Elliott Klotz3

  • 1Department of Health Management and Policy, College of Public Health and Social Justice, Saint Louis University, St. Louis, MO, United States.

Frontiers in neuroscience
|December 29, 2025
PubMed
概括

低位症,缺氧,发育迟缓和牙缺陷综合征 (HADDTS) 是由CTBP1突变引起的. 我们的研究揭示了CTBP1突变如何通过改变基因表达和细胞功能来破坏神经发育.

关键词:
在CtBP1中.发生了什么事 发生了什么事这是一种de novo突变.异构细胞 细胞 异构细胞转录的压制转录的压制

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