A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
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Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FProteomic analysis of the enterocyte brush borderIntestinal brush border assembly driven by protocadherin-based intermicrovillar adhesion.A new role for the architecture of microvillar actin bundles in apical retention of membrane proteinsMutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIPDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeIdentification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues.Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic interventionThe Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.Review series: The cell biology of hearingAutosomal recessive nonsyndromic deafness genes: a reviewUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUncovering quantitative protein interaction networks for mouse PDZ domains using protein microarraysUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsFocusing on the genetics of hearing: you ain't heard nothin' yet.The role of primary cilia in the development and disease of the retinaGenetics of hearing and deafnessSensing sound: molecules that orchestrate mechanotransduction by hair cellsStructures of usher syndrome 1 proteins and their complexesRTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stabilityAssembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23A conformational switch in the scaffolding protein NHERF1 controls autoinhibition and complex formation.The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsANKS4B Is Essential for Intermicrovillar Adhesion Complex FormationPDZ domains: structural modules for protein complex assemblyHarmonin (Ush1c) is required in zebrafish Müller glial cells for photoreceptor synaptic development and functionGenetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRsMouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsHarp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissuesOtoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.Diversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromePostnatal developmental expression of the PDZ scaffolds Na+ -H+ exchanger regulatory factors 1 and 2 in the rat cochleaInteractions in the network of Usher syndrome type 1 proteinsComprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.Finding new genes for non-syndromic hearing loss through an in silico prioritization study
P2860
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P2860
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
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2000 nî lūn-bûn
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A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@ast
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en-gb
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@nl
type
label
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@ast
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en-gb
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@nl
prefLabel
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@ast
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en-gb
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@nl
P2093
P3181
P356
P1433
P1476
A defect in harmonin, a PDZ do ...... derlies Usher syndrome type 1C
@en
P2093
I Kobayashi
I Zwaenepoel
M Leibovici
S Blanchard
P2888
P3181
P356
10.1038/79171
P407
P577
2000-09-01T00:00:00Z
P5875
P6179
1010718644