Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
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Sequence similarity between stereocilin and otoancorin points to a unified mechanism for mechanotransduction in the mammalian inner ear.Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle.Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing lossAutosomal recessive nonsyndromic deafness genes: a reviewFocusing on the genetics of hearing: you ain't heard nothin' yet.Genetics of Nonsyndromic Congenital Hearing LossA reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breedsThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsHair 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.Stereocilin-deficient mice reveal the origin of cochlear waveform distortionsCharacterization of the transcriptome of nascent hair cells and identification of direct targets of the Atoh1 transcription factorFinding new genes for non-syndromic hearing loss through an in silico prioritization studyGenetics of auditory mechano-electrical transduction.Notch signaling limits supporting cell plasticity in the hair cell-damaged early postnatal murine cochleaHearing loss: a common disorder caused by many rare alleles.Linking genes underlying deafness to hair-bundle development and function.Function and expression pattern of nonsyndromic deafness genesSliding adhesion confers coherent motion to hair cell stereocilia and parallel gating to transduction channels.Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.Detection of mitochondrial DNA from human inner ear using real-time polymerase chain reaction and laser microdissection.Deafness mutation mining using regular expression based pattern matching.Mesothelin, Stereocilin, and Otoancorin are predicted to have superhelical structures with ARM-type repeats.Copy number variants are a common cause of non-syndromic hearing lossTargeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern familiesCharacterization of transcriptomes of cochlear inner and outer hair cells.DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.Genetic male infertility and mutation of CATSPER ion channels.The genetic basis of non-syndromic intellectual disability: a reviewNovel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.Structural and mechanical analysis of tectorial membrane Tecta mutantsApplications of genomics in the inner ear.Genome-wide analysis of copy number variants in age-related macular degeneration.Exploiting Dual Otoacoustic Emission Sources.Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Auditory and vestibular hair cell stereocilia: relationship between functionality and inner ear disease.Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
P2860
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P2860
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
description
2001 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2001
@ast
im November 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2001/11/01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd op 2001/11/01)
@nl
наукова стаття, опублікована в листопаді 2001
@uk
name
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@ast
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@en
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@nl
type
label
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@ast
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@en
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@nl
prefLabel
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@ast
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@en
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@nl
P2093
P3181
P356
P1433
P1476
Mutations in a new gene encodi ...... c deafness at the DFNB16 locus
@en
P2093
I. Del Castillo
I. Zwaenepoel
J. L. Popot
M. Leibovici
R. F. Mueller
S. Blanchard
S. Masmoudi
P2888
P304
P3181
P356
10.1038/NG726
P407
P577
2001-11-01T00:00:00Z
P5875
P6179
1031819523