|
Usher Syndrome, Type III
|
|
0.820 |
GeneticVariation
|
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
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
|
|
0.820 |
GeneticVariation
|
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
|
|
0.820 |
CausalMutation
|
CLINVAR |
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
|
23304067 |
2012 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
|
19753315 |
2009 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
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
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
|
18281613 |
2008 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
|
16028794 |
2005 |
|
Usher Syndrome, Type III
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
|
15521980 |
2004 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
|
14569126 |
2003 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
|
12080385 |
2002 |
|
Usher Syndrome, Type III
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
|
12145752 |
2002 |
|
Usher Syndrome, Type III
|
|
0.820 |
CausalMutation
|
CLINVAR |
Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
|
12145752 |
2002 |
|
Usher Syndrome, Type III
|
|
0.820 |
GeneticVariation
|
UNIPROT |
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
|
12080385 |
2002 |
|
Usher Syndrome, Type III
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
|
11524702 |
2001 |
|
Retinitis Pigmentosa
|
|
0.700 |
GeneticVariation
|
CLINVAR |
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
|
12080385 |
2002 |
|
obsolete Rod-cone dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Mild hearing impairment
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Deaf-Blind Disorders
|
|
0.010 |
GeneticVariation
|
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
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the ear phenotype in the Clrn1(N48K) mouse suggests that it is a valuable model for ear disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America.
|
22787034 |
2012 |
|
Ear Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the ear phenotype in the Clrn1(N48K) mouse suggests that it is a valuable model for ear disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America.
|
22787034 |
2012 |