Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
about
Mutations 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 humansReview series: The cell biology of hearingELM--the database of eukaryotic linear motifsUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyViral infection and human disease--insights from minimotifsCadherins and mechanotransduction by hair cellsGenetics of Nonsyndromic Congenital Hearing LossThe 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 complexesThe structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsStructure of MyTH4-FERM domains in myosin VIIa tail bound to cargoANKS4B Is Essential for Intermicrovillar Adhesion Complex FormationA mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)Mouse 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 tissuesDiversity of the Genes Implicated in Algerian Patients Affected by Usher SyndromeMyosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransductionInteractions in the network of Usher syndrome type 1 proteinsRole of myosin VIIa and Rab27a in the motility and localization of RPE melanosomesComprehensive 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 studyUsher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Genetics of auditory mechano-electrical transduction.Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy.Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.Deafness and retinal degeneration in a novel USH1C knock-in mouse modelCadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids.A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J miceCadherins as targets for genetic diseases.A quantitative survey of gravity receptor function in mutant mouse strains.Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouseRadixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia.Gene expression associated with the onset of hearing detected by differential display in rat organ of CortiAnalysis and functional evaluation of the hair-cell transcriptome.Using injectoporation to deliver genes to mechanosensory hair cells
P2860
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P2860
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@ast
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en-gb
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@nl
type
label
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@ast
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en-gb
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@nl
prefLabel
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@ast
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en-gb
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@nl
P2093
P50
P921
P3181
P356
P1476
Usher syndrome type I G (USH1G ...... th the USH1C protein, harmonin
@en
P2093
Andreas Gal
Avital Adato
Christian Hamel
Dominique Weil
Hammadi Ayadi
Hiromichi Yonekawa
Mirna Mustapha
Saber Masmoudi
Sophie Lainé
Yoshiaki Kikkawa
P304
P3181
P356
10.1093/HMG/DDG051
P407
P577
2003-03-01T00:00:00Z