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CLRN1 gene

Known as: CLARIN 1, CLRN1, USH3 
National Institutes of Health

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Usher Syndrome, Type III

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Versão integral disponível em digitalis.uc.pt WHO IS COUNTING? APPRECIATING THE PEER, DESPISING THE OTHER
In this work, we aim to study different scenes within the Iliad and the Odyssey in order to understand what kind of relationships… 
2016
2016
Swe-Clarin : Language Resources and Technology for Digital Humanities
CLARIN is a European Research Infrastructure Consortium (ERIC), which aims at (a) making extensive language-based materials… 
2013
2013
Extended mutation spectrum of Usher syndrome in Finland
Purpose:  The Finnish distribution of clinical Usher syndrome (USH) types is 40% USH3, 34% USH1 and 12% USH2. All patients with… 
2012
2012
Bilateral progressive coats‐type exudative retinopathy in Usher syndrome type IIIA from c.528T>G Clarin 1 (CLRN1) mutation
Purpose To describe bilateral, progressive, Coats‐type exudative retinopathy in a boy with Usher syndrome type IIIA. 
2011
2011
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome
Background: To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Materials and… 
2009
2009
Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane
Purpose Mutations of clarin 1 (CLRN1) cause Usher syndrome type 3 (USH3). To determine the effects of USH3 mutations on CLRN1… 
2005
2005
Cellular Localization and Processing of USH3A Protein Clarin–1 in Transiently Transfected Cell Lines
2002
2002
Induction of cytochrome c release and apoptosis by Hck-SH3 domain-mediated signalling requires caspase-3
The function of key components of signal transduction, the Src family tyrosine kinases is dependent on catalytic activity as well… 
2000
2000
A sequence-ready map of the Usher syndrome type III critical region on chromosome 3q.
Usher syndrome type 3 (USH3; MIM 276902) is an autosomal recessive disorder associated with progressive hearing loss and retinal… 
1996
1996
Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region.
A locus for Usher syndrome type III (USH3; MIM No. 276902) was recently assigned to a 5-cM region on chromosome 3q. We… 
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