Article
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development
2025-05-30
Abstract excerpt
<h4>ABSTRACT</h4> The RNA-binding protein TRIM71 is essential for brain development, and recent genetic studies in humans have identified TRIM71 as a risk gene for congenital hydrocephaly (CH). Here, we show that mono-allelic missense mutations in TRIM71 are associated with hearing loss (HL) and inner ear aplasia in humans. Utilizing conditional Trim71 knockout mice carrying a CH and HL-associated mutation, we...
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Identifiers and source
- Literature Corpus work
- 02cf79ba-e4b6-5498-8ffa-228a4eb88bd9
- DOI
- 10.1101/2025.05.29.656801
