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Updated: Jun 27, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
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Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

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解读一种常见的三重重复扩张介导疾病的新型TCF4驱动机制

Nihar Bhattacharyya1, Niuzheng Chai1, Nathaniel J Hafford-Tear1

  • 1University College London Institute of Ophthalmology, London, United Kingdom.

PLoS genetics
|May 7, 2024
PubMed
概括

福克斯内皮角膜缩症 (FECD) 与TCF4基因中CTG18.1重复扩张有关. 这项研究揭示了RNA毒性和TCF4异型变化作为关键疾病机制,为新的治疗提供了点.

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