×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
Usher syndrome type 3 (USH3 ) is an autosomal recessively inherited disorder caused by mutations in the gene clarin-1 (CLRN1 ), leading to combined progressive hearing loss and retinal degeneration.
31625146
2020
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
BEFREE
Our results identify clarin-1 as a key organizer of IHC ribbon synapses, and suggest new treatment possibilities for USH3A patients.
29985171
2018
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
Usher syndrome type III (USH3 ) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1 ).
29044151
2017
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
MGD
Usher syndrome type III (USH3 ) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1 ).
29044151
2017
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
Impairment of Vision in a Mouse Model of Usher Syndrome Type III.
26943149
2016
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
AlteredExpression
disease
BEFREE
Taken together, these results suggest that CLRN1 expression is potentially supported by a variety of retinal cells, and the right combination of AAV vector dose, promoter, and delivery method needs to be selected to develop safe therapies for USH3 disorder.
26881841
2016
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
Because the CLRN1 (N48K ) mutation causes both hearing and vision loss, BF844 could in principle prevent both sensory deficiencies in patients with USH3 .
27110679
2016
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
Because the CLRN1 (N48K) mutation causes both hearing and vision loss, BF844 could in principle prevent both sensory deficiencies in patients with USH3 .
27110679
2016
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
The missense mutation CLRN1 (N48K ), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews.
26180195
2015
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
This is the first report of USH3 with a CLRN1 gene mutation in Asian populations.
25743179
2015
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
CausalMutation
disease
CLINVAR
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
26180195
2015
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
24596593
2014
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
CausalMutation
disease
CLINVAR
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
24596593
2014
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
BEFREE
These findings provide insight into the effect of CLRN1 mutations on macular cone structure, which has implications for the development of treatments for USH3 .
22964989
2013
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A.
24045267
2013
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
CausalMutation
disease
CLINVAR
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
22135276
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
CausalMutation
disease
CLINVAR
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
22952768
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
CLINVAR
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3 .
23304067
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
UNIPROT
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3 .
23304067
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
MGD
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
22787034
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
GeneticVariation
disease
CLINVAR
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
22135276
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
22135276
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
22787034
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
Biomarker
disease
CLINGEN
Role for a novel Usher protein complex in hair cell synaptic maturation.
22363448
2012
×
Entrez Id:
7401
Gene Symbol:
CLRN1
CLRN1
1.000
CausalMutation
disease
CLINVAR
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3 .
23304067
2012