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Clarin 1

USH3, clarin-1, USH3A, CLRN1
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: myosin VIIa, HAIR, USH1C, CDH23, AGE
Papers on USH3
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Møller et al., Copenhagen, Denmark. In Eur J Hum Genet, Dec 2015
Usher syndrome is divided into three subtypes, USH1, USH2 and USH3.
Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
Alagramam et al., Cleveland, United States. In J Neurosci, Aug 2015
The missense mutation CLRN1(N48K), which affects a conserved N-glycosylation site in hCLRN1, is a common causative USH3 mutation among Ashkenazi Jews.
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Usami et al., Matsumoto, Japan. In Ann Otol Rhinol Laryngol, May 2015
OBJECTIVE: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings.
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Sui et al., Houston, United States. In Orphanet J Rare Dis, 2014
In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients.
Discovery of molecular markers to discriminate corneal endothelial cells in the human body.
Nishida et al., Suita, Japan. In Plos One, 2014
We identified five genes, CLRN1, MRGPRX3, HTR1D, GRIP1 and ZP4 as novel markers of CECs, and the specificities of these genes were successfully confirmed by independent experiments at both the RNA and protein levels.
Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
Petit et al., Tunisia. In Plos One, 2014
Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa.
Clarin-1 acts as a modulator of mechanotransduction activity and presynaptic ribbon assembly.
Zallocchi et al., Omaha, United States. In J Cell Biol, 2014
Clarin-1 is a four-transmembrane protein expressed by hair cells and photoreceptors.
Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models.
Rehman et al., Faisalābād, Pakistan. In Bioinformation, 2013
CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness.
Strategies for genetic study of hearing loss in the Brazilian northeastern region.
Mingroni-Netto et al., São Paulo, Brazil. In Int J Mol Epidemiol Genet, 2013
The c.189C>A (p.TyrY63*) mutation in the CLRN1 gene was detected in homozygosis in 21/23 Usher syndrome patients from Gado Bravo and it was not found in Queimadas.
Therapy strategies for Usher syndrome Type 1C in the retina.
Wolfrum et al., Mainz, Germany. In Adv Exp Med Biol, 2013
Three clinical subtypes (USH1-USH3) are defined according to the severity of the hearing impairment, the presence or absence of vestibular dysfunction and the age of onset of retinitis pigmentosa (RP).
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Millán et al., Valencia, Spain. In Orphanet J Rare Dis, 2013
METHODS: A custom HaloPlex panel for Illumina platforms was designed to capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and MYO15A.
The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene.
Alagramam et al., Cleveland, United States. In J Neurosci, 2012
This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo.
Role for a novel Usher protein complex in hair cell synaptic maturation.
Cosgrove et al., Omaha, United States. In Plos One, 2011
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.
Slim et al., Montréal, Canada. In Ophthalmic Genet, 2011
Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
den Hollander et al., Islamabad, Pakistan. In Ophthalmology, 2011
Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar.
Alternative splice variants of the USH3A gene Clarin 1 (CLRN1).
Sankila et al., Helsinki, Finland. In Eur J Hum Genet, 2011
The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype.
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Wolfrum et al., Mainz, Germany. In Exp Eye Res, 2006
The two USH2 genes code for the transmembrane protein USH2A, also termed USH2A ("usherin") and the G-protein-coupled 7-transmembrane receptor VLGR1b (USH2C), respectively, whereas the USH3A gene encodes clarin-1, a member of the clarin family which exhibits 4-transmembrane domains.
[Usher syndrome: an example of genetic heterogeneity].
Millán et al., Valencia, Spain. In Med Clin (barc), 2005
Clinically, there are three distinct subtypes referred to as USH1, USH2, and USH3.
[Molecular updates on Usher syndrome].
Roux, Montpellier, France. In J Fr Ophtalmol, 2005
Type III (USH3) is characterized by a progressive loss of hearing and is found more frequently among Finnish patients.
Genetic heterogeneity in Usher syndrome.
Savas et al., New Orleans, United States. In Am J Med Genet A, 2004
Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types.
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