|
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 |
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 |
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 |
CLINVAR |
Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
|
17407589 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.
|
12834121 |
2003 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
|
14569126 |
2003 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
|
11524702 |
2001 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Development of a genotyping microarray for Usher syndrome.
|
16963483 |
2007 |
|
Usher Syndrome, Type III
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
To determine the effects of USH3 mutations on CLRN1 function, we examined the cellular distribution and stability of both normal and mutant CLRN1 in vitro.
|
19753315 |
2009 |
|
Usher Syndrome, Type III
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
|
18281613 |
2008 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations.
|
12080385 |
2002 |
|
Usher Syndrome, Type III
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
|
12145752 |
2002 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene responsible for Usher syndrome type III is named clarin-1 and it is thought to be involved in hair cell and photoreceptor cell synapses.
|
15521980 |
2004 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors.
|
19539019 |
2009 |
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
|
19423712 |
2009 |
|
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 |
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
|
11524702 |
2001 |
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Usher Syndrome, Type III
|
1.000 |
Biomarker
|
disease |
CLINGEN |
This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III.
|
21675857 |
2011 |