Article

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment

2024-04-07

Abstract excerpt

The three-dimensional genome structure organized by CTCF is required for development. Clinically identified mutations in CTCF have been linked to adverse developmental outcomes. Nevertheless, the underlying mechanism remains elusive. In this investigation, we explored the regulatory roles of a clinically relevant R567W point mutation, located within the 11 th zinc finger of CTCF, by introducing this mutation int...

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Literature Corpus work: 3ca4dd87-c96b-5a00-affd-1d0c99839d5e
DOI: 10.1101/2024.04.07.588438

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