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Article

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization.

Communications biology - 12 Sept 2023

Crane Ryan, Tebbe Lars, Mwoyosvi Maggie L, Al-Ubaidi Muayyad R, Naash Muna I

Abstract excerpt

Usher syndrome (USH) is the leading cause of combined deafness and blindness, with USH2A being the most prevalent form. The mechanisms responsible for this debilitating sensory impairment remain unclear. This study focuses on characterizing the auditory phenotype in a mouse model expressing the c.2290delG mutation in usherin equivalent to human frameshift mutation c.2299delG. Previously we described how this...

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Identifiers

PMID: 37700068
DOI: 10.1038/s42003-023-05296-x
PMCID: PMC10497539

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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