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Article

Ush1c216A knock-in mouse survives Katrina.

Mutation research - 1 Mar 2007

Lentz Jennifer, Pan Fuming, Ng San San, Deininger Prescott, Keats Bronya

Abstract excerpt

Usher syndrome is the most common cause of inherited deafness found in combination with blindness. All Usher patients suffer progressive retinitis pigmentosa, with the degree of hearing impairment and the presence or absence of vestibular function differing among subtypes. A cryptic splice site mutation (216G-->A) in exon 3 of the USH1C gene on chromosome 11p, which encodes a PDZ-domain protein, harmonin, was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17174357
DOI: 10.1016/j.mrfmmm.2006.11.006

Provenance

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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Ush1c216A knock-in mouse survives Katrina.PMID 17174357Read ↗

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Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.Semantic proximity Read ↗

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.Semantic proximity Read ↗

Pathogenesis and Treatment of Usher Syndrome Type IIA.Semantic proximity Read ↗

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.Semantic proximity Read ↗

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