The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FDigenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humansMyosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) miceMutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Review series: The cell biology of hearingAutosomal recessive nonsyndromic deafness genes: a reviewA new spontaneous mutation in the mouse protocadherin 15 gene.Usher 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 developmentUsherin 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.Sensing sound: molecules that orchestrate mechanotransduction by hair cellsStructures of usher syndrome 1 proteins and their complexesCLRN1 is nonessential in the mouse retina but is required for cochlear hair cell developmentThe structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteinsStructural 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 mechanotransductionMouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devilUsher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activationHair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQStereocilin connects outer hair cell stereocilia to one another and to the tectorial membrane.Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domainPhysical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cellsInteractions in the network of Usher syndrome type 1 proteinsTMHS is an integral component of the mechanotransduction machinery of cochlear hair cellsParallel evolution of auditory genes for echolocation in bats and toothed whalesProgression of inner ear pathology in Ames waltzer mice and the role of protocadherin 15 in hair cell development.Supervillin Is a Component of the Hair Cell's Cuticular Plate and the Head Plates of Organ of Corti Supporting CellsGenetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.Genetics of auditory mechano-electrical transduction.The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative geneACF7 is a hair-bundle antecedent, positioned to integrate cuticular plate actin and somatic tubulinA mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells.Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy.Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Hearing loss: a common disorder caused by many rare alleles.
P2860
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P2860
The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene
description
2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2001
@ast
im Januar 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2001/01/01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd op 2001/01/01)
@nl
наукова стаття, опублікована в січні 2001
@uk
name
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@ast
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@en
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@nl
type
label
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@ast
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@en
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@nl
prefLabel
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@ast
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@en
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@nl
P2093
P3181
P356
P1433
P1476
The mouse Ames waltzer hearing ...... 15, a novel protocadherin gene
@en
P2093
C. G. Wright
C. L. Murcia
H. Y. Kwon
K. N. Alagramam
K. S. Pawlowski
R. P. Woychik
P2888
P304
P3181
P356
10.1038/83837
P407
P577
2001-01-01T00:00:00Z