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USH1C gene

Known as: PDZ73, NY-CO-37, PDZ-73 
National Institutes of Health

Related topics

Related topics

2 relations
USH1G geneUSHER SYNDROME, TYPE IC

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3’s Function
Cadherin-related 23 (CDH23) is an adhesive protein important for hearing and vision, while CAMSAP3/Marshalin is a microtubule (MT… 
2014
2014
The C‐terminal extension of human RTEL1, mutated in Hoyeraal‐Hreidarsson syndrome, contains Harmonin‐N‐like domains
Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation… 
2013
2013
Rescue from hearing loss in Usher's syndrome.
A mouse model of a particular genetic form of Usher's syndrome, which involves hearing loss and difficulties with balance, showed… 
2010
2010
Targeting of the Hair Cell Proteins Cadherin 23, Harmonin, Myosin XVa, Espin, and Prestin in an Epithelial Cell Model
We have developed an advantageous epithelial cell transfection model for examining the targeting, interactions, and mutations of… 
2006
2006
Roles and interactions of usher 1 proteins in the outer retina.
Our studies demonstrate that harmonin and myosin VIIa are not localized in the same compartments in the mouse and human retinas… 
Highly Cited
2005
Highly Cited
2005
Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).
PURPOSE The human Usher syndrome (USH) is the most common form of deaf-blindness. Usher type I (USH1), the most severe form, is… 
Review
2004
Review
2004
Genetic heterogeneity in Usher syndrome
Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The… 
2004
2004
Harp (harmonin‐interacting, ankyrin repeat‐containing protein), a novel protein that interacts with harmonin in epithelial tissues
Mutations in the triple PDZ domain‐containing protein harmonin have been identified as the cause of Usher deafness syndrome type… 
2004
2004
Expression of AIE-75 PDZ-domain protein induces G2/M cell cycle arrest in human colorectal adenocarcinoma SW480 cells.
Review
2003
Review
2003
The cellular function of the usher gene product myosin VIIa is specified by its ligands.
Defects in myosin Vlla are responsible for Usher Syndrome 1B (Weil et al., 1995). Human Usher syndrome (USH), named after the… 
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