Skip to search formSkip to main contentSkip to account menu

DFNB31 gene

Known as: KIAA1526, CIP98, PDZD7B 
National Institutes of Health

Related topics

Related topics

2 relations
DEAFNESS, AUTOSOMAL RECESSIVE 31Usher Syndrome, Type II

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Structural plasticity of the HHD2 domain of whirlin
Whirlin is a protein essential to sensory neurons. Its defects are responsible for nonsyndromic deafness or for the Usher… 
2018
2018
Ablation of cytoskeletal scaffolding proteins, Band 4.1B and Whirlin, leads to cerebellar purkinje axon pathology and motor dysfunction
The cerebellar cortex receives neural information from other brain regions to allow fine motor coordination and motor learning… 
2015
2015
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.
The DFNB31 gene plays an indispensable role in the cochlea and retina. Mutations in this gene disrupt its various isoforms and… 
2012
2012
RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.
PURPOSE Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa… 
2010
2010
Identification and Characterization of a Novel Whirlin Isoform as a RPGR ORF15 Binding Protein
2009
2009
Whirlin associates with the Ca v 1.3 ( 1D ) channels in photoreceptors, defining a novel member of the Usher protein network
250 words: 240 Text words: 4323 Page 1 of 23 IOVS IOVS Papers in Press. Published on December 3, 2009 as Manuscript iovs.09-4650… 
2009
2009
Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
We identified that whirlin is localized to chromosome 9q32-33, and is up-regulated in colorectal cancer tissues by using… 
2008
2008
Identification and characterization of CIP98 as a novel regulator of mGluR6
Group III metabotropic glutamate receptors (mGluRs) –mGluR4, 6, 7 and 8 – couple exclusively to Gαi/o proteins. mGluR6 has a… 
2006
2006
The DFNB 31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH 2 A and VLGR 1
  • 2006
  • Corpus ID: 109928320
Department of Otorhinolaryngology, Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for… 
2006
2006
Subcellular Localization of Whirlin and Its Interaction With Ush2a in the Photoreceptors
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)