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USHER SYNDROME, TYPE IG

Known as: USH1G 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal recessive inheritanceRetinitis PigmentosaUSH1G gene

Broader (1)

Usher Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.
2018
2018
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment
BackgroundDigenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic… 
2016
2016
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision… 
2015
2015
Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum
Objective: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can… 
Highly Cited
2014
Highly Cited
2014
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
BackgroundUsher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and… 
2012
2012
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
Inherited hearing loss in mice has contributed substantially to our understanding of inner-ear function. We identified a new… 
Highly Cited
2011
Highly Cited
2011
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some… 
2010
2010
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome
We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA… 
Review
2006
Review
2006
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%
Background: Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically… 
Highly Cited
2003
Highly Cited
2003
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have… 
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