Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
about
Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1FMultiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing lossNovel 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, DFNB37Myosin VIIA is specifically associated with calmodulin and microtubule-associated protein-2B (MAP-2B)Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing lossReview series: The cell biology of hearingUsher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapyPendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsMutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's diseaseMouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene.Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese familyElongation of hair cell stereocilia is defective in the mouse mutant whirlerAssessment of hearing in 80 inbred strains of mice by ABR threshold analyses.Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Hearing loss: a common disorder caused by many rare alleles.Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutationMyosin VIIA, important for human auditory function, is necessary for Drosophila auditory organ development.Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists.Myosin VI and VIIa distribution among inner ear epithelia in diverse fishes.Towards a molecular understanding of Drosophila hearingAnatomical and molecular design of the Drosophila antenna as a flagellar auditory organ.A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.At the speed of sound: gene discovery in the auditory systemENU mutagenesis and the search for deafness genes.Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingNovel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing lossBeginning of a molecular era in hearing and deafness.Autosomal recessive nonsyndromic hearing loss.Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.
P2860
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P2860
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@ast
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@en
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@nl
type
label
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@ast
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@en
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@nl
prefLabel
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@ast
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@en
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@nl
P2093
P2860
P356
P1433
P1476
Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
@en
P2093
K Kitamura
M Nishizawa
Y Tamagawa
P2860
P2888
P356
10.1038/NG1197-268
P407
P577
1997-11-01T00:00:00Z