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USH2A gene

Known as: USH2, US2, RP39 
National Institutes of Health

Related topics

Related topics

3 relations
USH2A protein, humanUSHBP1 geneUSHER SYNDROME, TYPE IIA

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Severe or Profound Sensorineural Hearing Loss Caused by Novel USH2A Variants in Korea: Potential Genotype-Phenotype Correlation
Objectives We, herein, report two novel USH2A variants from two unrelated Korean families and their clinical phenotypes, with… 
Highly Cited
2017
Highly Cited
2017
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26…
Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1… 
Highly Cited
2011
Highly Cited
2011
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
BackgroundUsher Syndrome type II (USH2) is an autosomal recessive disorder, characterized by moderate to severe hearing… 
Highly Cited
2010
Highly Cited
2010
The USH2A c.2299delG mutation: dating its common origin in a Southern European population
Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be… 
Highly Cited
2004
Highly Cited
2004
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments
The most common mutation in the USH2A gene (Usherin), 2299delG, causes both typical Usher (USH) syndrome type II and atypical USH… 
Review
2004
Review
2004
Genetic heterogeneity in Usher syndrome
Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The… 
Highly Cited
2003
Highly Cited
2003
Human Cytomegalovirus-Encoded US2 Differentially Affects Surface Expression of MHC Class I Locus Products and Targets Membrane-Bound, but Not Soluble HLA-G1 for Degradation 1
Human CMV (HCMV) can elude CTL as well as NK cells by modulating surface expression of MHC class I molecules. This strategy would… 
Highly Cited
2000
Highly Cited
2000
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing… 
1999
1999
Hearing impairment related to age in Usher syndrome types 1B and 2A.
OBJECTIVE To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A. DESIGN Cross… 
Highly Cited
1995
Highly Cited
1995
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and… 
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