Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FMammalian Fat1 cadherin regulates actin dynamics and cell-cell contactTargeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type IIDigenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansSurvey 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.Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsMutations of MYO6 are associated with recessive deafness, DFNB37Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type IIThe Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessAutosomal recessive nonsyndromic deafness genes: a reviewUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyCadherins and mechanotransduction by hair cellsMolecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell developmentGenetics of Nonsyndromic Congenital Hearing LossThe Genetics of Deafness in Domestic AnimalsSensing sound: molecules that orchestrate mechanotransduction by hair cellsStructures of usher syndrome 1 proteins and their complexesStructural determinants of cadherin-23 function in hearing and deafnessStructure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily membersStructure of a force-conveying cadherin bond essential for inner-ear mechanotransductionThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsANKS4B Is Essential for Intermicrovillar Adhesion Complex FormationPrevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.A noncoding point mutation of Zeb1 causes multiple developmental malformations and obesity in Twirler miceMouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQLocalization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptorsDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeCyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransductionElongation of hair cell stereocilia is defective in the mouse mutant whirlerInteractions 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 studyTauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.
P2860
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P2860
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
description
2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年学术文章
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name
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@ast
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en-gb
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@nl
type
label
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@ast
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en-gb
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@nl
prefLabel
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@ast
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en-gb
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@nl
P2093
P2860
P3181
P356
P1476
Usher syndrome 1D and nonsyndr ...... novel cadherin-like gene CDH23
@en
P2093
A J Griffith
C R Srisailpathy
E R Wilcox
L M Peters
M Bitner-Glindzicz
P2860
P3181
P356
10.1086/316954
P407
P577
2000-11-21T00:00:00Z