USH1C gene

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

Topic mentions per year

Topic mentions per year

2000-2018
024620002018

Papers overview

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2011
2011
Harmonin is a scaffolding protein that is required for normal mechanosensory function in hair cells. We found a presynaptic… (More)
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2009
2009
PURPOSE To investigate the expression of harmonin in the mouse retina, test for ultrastructural and physiological mutant… (More)
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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… (More)
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Highly Cited
2005
Highly Cited
2005
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically… (More)
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Highly Cited
2005
Highly Cited
2005
PURPOSE The human Usher syndrome (USH) is the most common form of deaf-blindness. Usher type I (USH1), the most severe form, is… (More)
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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… (More)
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2003
2003
Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related… (More)
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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… (More)
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2002
2002
We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness… (More)
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… (More)
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