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Usher syndrome 1C

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: myosin VIIa, CDH23, PCDH15, HAD, HAIR
Papers on USH1C
Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase, AIE-75, villin and Paneth cells in APECED.
Ranki et al., Helsinki, Finland. In Clin Immunol, Jun 2015
One third of the patients also had AIE-75 (33%) and villin (29%)-specific autoantibodies while antibodies against brush borders and Paneth cells were detected in 29% and 20%, respectively.
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.
Sieving et al., Bethesda, United States. In Invest Ophthalmol Vis Sci, 2015
Two USH1C subjects retained normal response timing despite reduced amplitudes.
Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome.
Ariga et al., Sapporo, Japan. In Clin Immunol, 2015
Autoantibodies to autoimmune enteropathy-related 75 kDa antigen (AIE-75) and villin are disease markers of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome which is characterized by a peripheral tolerance defect.
[Difference in target antigens between central tolerance and peripheral tolerance deficiencies].
Kobayashi et al., Japan. In Nihon Rinsho Meneki Gakkai Kaishi, 2014
In addition to the differences in target organs, we have found differences in the target antigens in the same organ, small intestine, between both disorders; anti-autoimmune enteropathy-related 75 kDa antigen (AIE-75) antibodies are specific to IPEX syndrome, whereas anti-tryptophan hydroxylase-1 (TPH-1) antibodies are specific to APECED.
A case series in patients with enteropathy and granulomatous diseases.
Schumann et al., Berlin, Germany. In Bmc Gastroenterol, 2014
In two cases, celiac disease was established applying celiac-specific serology and duodenal histology, while one case was revealed as an AIE-75-positive autoimmune enteropathy.
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.
Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
Wolfrum et al., Mainz, Germany. In Adv Exp Med Biol, 2013
All USH1 and 2 proteins are organized into protein networks by the scaffold proteins harmonin (USH1C), whirlin (USH2D) and SANS (USH1G).
Therapy strategies for Usher syndrome Type 1C in the retina.
Wolfrum et al., Mainz, Germany. In Adv Exp Med Biol, 2013
Currently only the amelioration of the hearing deficiency is implemented, but no treatment of the senso-neuronal degeneration in the eye exists.In our studies we are focusing on the evaluation of gene-based therapies to cure the retinal degeneration of USH1C patients: (i) gene augmentation using recombinant adeno-associated virus, (ii) genome editing by homologous recombination mediated by zinc-finger nucleases and, (iii) read-through therapy using novel designer aminoglycosides and PTC124.
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.
Hastings et al., New Orleans, United States. In Nat Med, 2013
An antisense oligonucleotide (ASO) was used to correct defective pre-mRNA splicing of transcripts from the USH1C gene with the c.216G>A mutation, which causes human Usher syndrome, the leading genetic cause of combined deafness and blindness.
Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes.
Gillespie et al., Cleveland, United States. In Hum Mol Genet, 2012
MYO7A, USH1G (Sans) and CDH23 form the upper tip-link complex in adult mice, likely in combination with USH1C (harmonin).
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
Webster et al., London, United Kingdom. In Retina, 2011
We report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the USH1C gene.
Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.
Liu et al., Miami, United States. In Int J Exp Pathol, 2011
examine the effects of null mutation of the Ush1c gene on subcellular localization of Myo7a, Pcdh15 and Sans in the inner ear
Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.
Ben-Yosef et al., Haifa, Israel. In Mol Vis, 2010
Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1.
Novel mutations in the USH1C gene in Usher syndrome patients.
Millán et al., Valencia, Spain. In Mol Vis, 2009
Mutations in USH1C are responsible for 1.5% of Usher syndrome type I disease in patients of Spanish origin.
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
There are five known USH1 molecules: the molecular motor myosin VIIa (USH1B); the two cell-cell adhesion cadherin proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G).
Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Fellinger et al., Vienna, Austria. In Int J Pediatr Otorhinolaryngol, 2005
Mutations in a single gene may not only cause autosomal dominant, nonsyndromic HIH, but also autosomal recessive, nonsyndromic HIH (GJB2, GJB6, MYO6, MYO7A, TECTA, TMC1), and even syndromic HIH (CDH23, COL11A2, DPP1, DSPP, GJB2, GJB3, GJB6, MYO7A, MYH9, PCDH15, POU3F4, SLC26A4, USH1C, WFS1).
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Kubisch et al., Hamburg, Germany. In Nat Genet, 2001
So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C.
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Glaser et al., London, United Kingdom. In Nat Genet, 2000
The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18.
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.
Petit et al., Paris, France. In Nat Genet, 2000
We identified this gene (USH1C), encoding a PDZ-domain-containing protein, harmonin, in a subtracted mouse cDNA library derived from inner ear sensory areas.
Usher Syndrome Type I
Lentz et al., Seattle, United States. In Unknown Journal, 2000
Mutation of genes at a minimum of nine different loci causes Usher syndrome type I. Genes at six of these loci – MYO7A (USH1B), USH1C, CDH23 (USH1D), PCDH15 (USH1F), USH1G, and CIB2 (USH1J) – have been identified.
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