Condition: Usher Syndrome, Type III
rs111033258 in
CLRN1-AS1;CLRN1 gene and
Usher Syndrome, Type III
PMID 16028794 2005 Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
PMID 12145752 2002 Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
PMID 22787034 2012 The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
PMID 15521980 2004 Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability.
PMID 26180195 2015 The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews.
PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
PMID 19753315 2009 Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 18281613 2008 Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
PMID 11524702 2001 Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
PMID 19423712 2009 Clarin-1, encoded by the Usher Syndrome III causative gene, forms a membranous microdomain: possible role of clarin-1 in organizing the actin cytoskeleton.
PMID 14569126 2003 Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
PMID 23304067 2012 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.
rs111033267 in
CLRN1;CLRN1-AS1 gene and
Usher Syndrome, Type III
PMID 24596593 2014 Strategies for genetic study of hearing loss in the Brazilian northeastern region.
PMID 12080385 2002 USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
PMID 23304067 2012 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
PMID 11524702 2001 Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
PMID 15521980 2004 It is noticeable that, whereas C40G family is clinically compatible with Usher syndrome type III due to the progression of the hearing loss, Y63X family could be diagnosed as Usher syndrome type I because the hearing impairment is profound and stable.
PMID 18273898 2008 Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
PMID 12145752 2002 Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations.
PMID 22952768 2012 Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.
PMID 17407589 2007 Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.
PMID 19753315 2009 Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
PMID 21675857 2011 A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
PMID 17893653 2007 Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.
PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.
PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.