Article

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

2026-07-07

Abstract excerpt

TRIM28 is an epigenetic co-repressor protein that silences transposable elements (TEs). Although loss-of-function studies in mice led to neurodevelopmental defects, a functional link between TRIM28 and human neurodevelopment has yet to be established. In this study, we describe two patients with neurodevelopmental delay who carry de novo TRIM28 missense variants. Using CRISPR-edited induced pluripotent stem cell...

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Literature Corpus work: 14d69abd-0fe2-503e-9f5a-6d1a6355f4dc
DOI: 10.64898/2026.07.02.735854

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