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USH1C gene

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

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… Expand
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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
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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
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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… Expand
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Review
2004
Review
2004
Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The… Expand
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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… Expand
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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… Expand
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Highly Cited
2002
Highly Cited
2002
Abstract. We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound… Expand
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Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… Expand
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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… Expand
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