Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

DFNB31 gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2011
2011
PURPOSE Whirlin is the causative gene for Usher syndrome type IID (USH2D), a condition manifested as both retinitis pigmentosa… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 5
  • figure 7
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Myosin XVa (MyoXVa) and its cargo whirlin are implicated in deafness and vestibular dysfunction and have been shown to localize… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2010
2010
A complex of proteins scaffolded by the PDZ protein, whirlin, reside at the stereocilia tip and are critical for stereocilia… Expand
  • figure 1
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2008
Highly Cited
2008
The human Usher syndrome (USH) is the most frequent cause of combined deaf-blindness. USH is genetically heterogeneous with at… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2005
2005
Little is known of the molecular processes that lead to the growth of stereocilia on the surface of hair cells in the inner ear… Expand
  • figure 1
  • figure 2
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Stereocilia are microvilli-derived mechanosensory organelles that are arranged in rows of graded heights on the apical surface of… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Defects in myosin XVa and the PDZ domain-containing protein, whirlin, underlie deafness in humans and mice. Hair bundles of… Expand
Is this relevant?
Highly Cited
2003
Highly Cited
2003
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in… Expand
  • figure 1
  • figure 2
  • figure 3
  • table 1
  • figure 4
Is this relevant?