Mutations of MYO6 are associated with recessive deafness, DFNB37
about
Myosin VI is a mediator of the p53-dependent cell survival pathway.Autosomal recessive nonsyndromic deafness genes: a reviewGipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.Genetics of Nonsyndromic Congenital Hearing LossMyosins in cell junctionsThe Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsRegulation of myosin-VI targeting to endocytic compartmentsMice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss.Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomesAdaptive evolution of the myo6 gene in old world fruit bats (family: pteropodidae)Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.Gene transfer in human vestibular epithelia and the prospects for inner ear gene therapy.Functional proteomics, human genetics and cancer biology of GIPC family membersActin in hair cells and hearing loss.Myosin VI and VIIa distribution among inner ear epithelia in diverse fishes.A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cellsNovel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencingStructure analyses reveal a regulated oligomerization mechanism of the PlexinD1/GIPC/myosin VI complexGipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear.Progress and prospects in human genetic research into age-related hearing impairment.Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis.Challenges in whole exome sequencing: an example from hereditary deafness.Identification of genes concordantly expressed with Atoh1 during inner ear development.Myosin VI deafness mutation prevents the initiation of processive runs on actinCLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI.Genetic insights into the morphogenesis of inner ear hair cells.Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pA Novel ENU-Induced Mutation in Myo6 Causes Vestibular Dysfunction and Deafness.Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype.Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.Membrane-induced lever arm expansion allows myosin VI to walk with large and variable step sizesDynamic exchange of myosin VI on endocytic structuresGenetic characterization of the Drosophila jaguar322 mutant reveals that complete myosin VI loss of function is not lethal.Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.Development of a genotyping microarray for Usher syndromeCoiled-coil-mediated dimerization is not required for myosin VI to stabilize actin during spermatid individualization in Drosophila melanogaster.Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.Myosin 6 is required for iris development and normal function of the outer retina.Identification and localization of myosin superfamily members in fish retina and retinal pigmented epithelium
P2860
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P2860
Mutations of MYO6 are associated with recessive deafness, DFNB37
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
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2003年の論文
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2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
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name
Mutations of MYO6 are associated with recessive deafness, DFNB37
@ast
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en-gb
Mutations of MYO6 are associated with recessive deafness, DFNB37
@nl
type
label
Mutations of MYO6 are associated with recessive deafness, DFNB37
@ast
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en-gb
Mutations of MYO6 are associated with recessive deafness, DFNB37
@nl
prefLabel
Mutations of MYO6 are associated with recessive deafness, DFNB37
@ast
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en-gb
Mutations of MYO6 are associated with recessive deafness, DFNB37
@nl
P2093
P2860
P50
P3181
P356
P1476
Mutations of MYO6 are associated with recessive deafness, DFNB37
@en
P2093
Andrea Gropman
Andrew J Griffith
Edward R Wilcox
Lameh Fananapazir
Mussaber M Ahmad
Rafael C Caruso
Saima Riazuddin
Shaheen N Khan
Sheikh Riazuddin
Tayyab Husnain
P2860
P304
P3181
P356
10.1086/375122
P407
P577
2003-04-08T00:00:00Z