由SMCHD1损失介导的DNMT3B拼接失调有助于DUX4过度表达和FSHD病原体

Eden Engal1,2,3, Aveksha Sharma2, Uria Aviel1,4

  • 1The Lautenberg Center for Immunology and Cancer Research, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel.

Science advances
|May 29, 2024
PubMed
概括

染色体的结构维护灵活的链域含有1 (SMCHD1) 损失扰乱了基因拼接,通过导致DUX4过度表达,导致面肌缩症 (FSHD). 这项研究揭示了SMCHD1.

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