Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.

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Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family.The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells.

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Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.

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Individual USH2 proteins make ...... cochlear stereociliary bundle.

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Albert H Park

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Ali Almishaal

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Jun Yang

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Junhuang Zou

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Pranav D Mathur

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Tihua Zheng

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Yong Wang

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P2860

Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells

The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC.

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

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

The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning

Elongation of hair cell stereocilia is defective in the mouse mutant whirler

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Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.

about

P2860

P2860

Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle.

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