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

USH1C gene

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2011
Highly Cited
2011
Harmonin is a scaffolding protein that is required for normal mechanosensory function in hair cells. We found a presynaptic… Expand
  • figure 1
  • figure 2
  • figure 3
Highly Cited
2009
Highly Cited
2009
In hair cells, mechanotransduction channels are gated by tip links, the extracellular filaments that consist of cadherin 23… Expand
  • figure 2
  • figure 3
  • figure 4
  • figure 5
  • figure 6
Highly Cited
2008
Highly Cited
2008
The planar polarity and staircase-like pattern of the hair bundle are essential to the mechanoelectrical transduction function of… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Review
2006
Review
2006
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
  • figure 3
Highly Cited
2005
Highly Cited
2005
Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2003
Highly Cited
2003
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have… Expand
  • figure 1
  • table 1
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2002
Highly Cited
2002
Deaf‐blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and… Expand
Highly Cited
2002
Highly Cited
2002
Usher syndrome type 1 (USH1) patients suffer from sensorineuronal deafness, vestibular dysfunction, and visual impairment… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5