Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina

Author:

Mathur Pranav Dinesh,Yang Jun

Funder

National Eye Institute

Publisher

Elsevier BV

Subject

Sensory Systems

Reference56 articles.

1. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family;Audo;Mol. Vis.,2011

2. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia;Belyantseva;Nat. Cell Biol.,2005

3. Non-USH2A mutations in USH2 patients;Besnard;Hum. Mutat.,2012

4. Usher syndrome: definition and estimate of prevalence from two high-risk populations;Boughman;J. Chron. Dis.,1983

5. Whirlin and PDZ domain containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2;Chen;J. Biol. Chem.,2014

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