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Article

Interactions in the network of Usher syndrome type 1 proteins.

Human molecular genetics - 1 Feb 2005

Adato Avital, Michel Vincent, Kikkawa Yoshiaki, Reiners Jan, Alagramam Kumar N, Weil Dominique, Yonekawa Hiromichi, Wolfrum Uwe, El-Amraoui Aziz, Petit Christine

Abstract excerpt

Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1). Mouse mutants for all these proteins exhibit disorganization of their hair bundle, which is the mechanotransduction receptive structure of the inner ear sensory cells, the cochlear and vestibular hair cells. We have previously...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15590703
DOI: 10.1093/hmg/ddi031

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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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Interactions in the network of Usher syndrome type 1 proteins.PMID 15590703Read ↗

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.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 ↗

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cellsSemantic proximity Read ↗

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.Semantic proximity Read ↗

Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.Semantic proximity Read ↗

Harmonin mutations cause mechanotransduction defects in cochlear hair cells.Semantic proximity Read ↗

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.Semantic proximity Read ↗

Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23.Semantic proximity Read ↗

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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 ↗

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

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