Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansReview series: The cell biology of hearingUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyUsherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cellsGenetics of hearing and deafnessCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentMouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Characterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factorGenetics of auditory mechano-electrical transduction.A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia.Deafness and retinal degeneration in a novel USH1C knock-in mouse modelA locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J miceA quantitative survey of gravity receptor function in mutant mouse strains.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.Differential expression of genes within the cochlea as defined by a custom mouse inner ear microarray.Characterization of the Drosophila ortholog of the human Usher Syndrome type 1G protein sans.Lineage-specific evolution of the vertebrate Otopetrin gene family revealed by comparative genomic analysesMutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).Tip links in hair cells: molecular composition and role in hearing loss.Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures.Inner ear morphology is perturbed in two novel mouse models of recessive deafness.A frameshift mutation in SANS results in atypical Usher syndromeAn ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degenerationUSH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1DPrimary cilia in planar cell polarity regulation of the inner earTankyrase polymerization is controlled by its sterile alpha motif and poly(ADP-ribose) polymerase domains.Genetics and pathological mechanisms of Usher syndrome.Molecular epidemiology of Usher syndrome in Italy.Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice.Weighted likelihood inference of genomic autozygosity patterns in dense genotype data.Variants in CIB2 cause DFNB48 and not USH1J.Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Gene Therapy in Mouse Models of Deafness and Balance Dysfunction
P2860
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P2860
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
description
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2003
@ast
im März 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/03/01)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/03/01)
@nl
наукова стаття, опублікована в березні 2003
@uk
مقالة علمية (نشرت في مارس 2003)
@ar
name
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@ast
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@en
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@nl
type
label
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@ast
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@en
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@nl
prefLabel
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@ast
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@en
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@nl
P2093
P356
P1476
Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
@en
P2093
Choji Taya
Hiromichi Yonekawa
Hiroshi Shitara
Hisashi Tokano
Kazusaku Kamiya
Ken Kitamura
Kunihiko Shimizu
Mieko Okamoto
Ryo Kominami
Shigeharu Wakana
P304
P356
10.1093/HMG/12.5.453
P577
2003-03-01T00:00:00Z