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

Localization of PDZD7 to the Stereocilia Ankle-Link Associates this Scaffolding Protein with the Usher Syndrome Protein Network

(2012) M. Grati et al.   JOURNAL OF NEUROSCIENCE

Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II

(2011) L. Wang et al.   HUMAN MOLECULAR GENETICS

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

(2011) Yoshiyuki Kawashima et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

A hearing and vestibular phenotyping pipeline to identify mouse mutants with hearing impairment

(2010) Rachel E Hardisty-Hughes et al.   Nature Protocols

Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss

(2010) Jun Yang et al.   PLoS Genetics

Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells

(2009) Amel Bahloul et al.   EMBO Molecular Medicine

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment

(2008) Eberhard Schneider et al.   HUMAN MOLECULAR GENETICS

Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

(2007) David S. Williams   VISION RESEARCH