|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Impairment of Vision in a Mouse Model of Usher Syndrome Type III.
|
26943149 |
2016 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of USH3 with a CLRN1 gene mutation in Asian populations.
|
25743179 |
2015 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
|
24596593 |
2014 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
|
24596593 |
2014 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
|
22952768 |
2012 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
|
23304067 |
2012 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
|
23304067 |
2012 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
|
22135276 |
2012 |
|
Usher Syndrome, Type III
|
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 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Role for a novel Usher protein complex in hair cell synaptic maturation.
|
22363448 |
2012 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
|
23304067 |
2012 |