MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
about
Dissection of the mammalian midbody proteome reveals conserved cytokinesis mechanisms.Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulatorMultiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing lossMyosin VI is a mediator of the p53-dependent cell survival pathway.Mutations of MYO6 are associated with recessive deafness, DFNB37Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Autosomal recessive nonsyndromic deafness genes: a reviewDynamic length regulation of sensory stereociliaGenetics of Nonsyndromic Congenital Hearing LossThe myosin superfamily at a glance.A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)Regulation of myosin-VI targeting to endocytic compartmentsElongation of hair cell stereocilia is defective in the mouse mutant whirlerMice 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)Finding new genes for non-syndromic hearing loss through an in silico prioritization studyThe effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss.Saccular Transcriptome Profiles of the Seasonal Breeding Plainfin Midshipman Fish (Porichthys notatus), a Teleost with Divergent Sexual Phenotypes.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.Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.Myosin VI and VIIa distribution among inner ear epithelia in diverse fishes.A nonsense mutation in the gene encoding a zebrafish myosin VI isoform causes defects in hair-cell mechanotransduction.At the speed of sound: gene discovery in the auditory systemAminoglycoside-induced phosphatidylserine externalization in sensory hair cells is regionally restricted, rapid, and reversible.Functional studies of individual myosin molecules.Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.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.The role of mtDNA mutations in the pathogenesis of age-related hearing loss in mice carrying a mutator DNA polymerase gammaProgress and prospects in human genetic research into age-related hearing impairment.Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis.Myosin VI, a new force in clathrin mediated endocytosis.Non-syndromic autosomal-dominant deafness.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.
P2860
Q24294556-6154E25F-5E4C-47C4-8958-AF89CEBD7A74Q24298963-BCADCB35-5366-40B0-A46C-566A842FEA46Q24301501-A257D0E1-E3F5-4933-B37E-C026DBB9379EQ24306104-A561DCB4-CB44-4194-B796-54FE76ACB252Q24532041-E32529EA-D3DB-4F62-A36E-89C1CEB33779Q24533372-EBBA1DB1-40E5-4478-81EC-C0C0DF52A9C0Q24611997-4F9E2605-6CE7-4C5F-97A5-451390D1D306Q24646242-B86BC22B-0CC4-4089-A34F-951D31871E7AQ26753842-A8771057-4892-487F-B824-8020BAF77DC3Q27011868-743C5954-CB06-4452-9535-0AA21A427F73Q28235113-0357B103-77EC-4395-AAE5-B0C1451E54A1Q28580721-81B6444A-957E-4FBD-97F3-69EFEE32C3DFQ28585988-32E2ACAF-1861-4C11-83AB-FF259C5BD850Q28590867-01DFC572-897B-4FDF-A3EA-D488FF2D65ACQ28593151-543A93BD-F40D-4BC9-B754-737FED8F0043Q28708921-8EBD3C8B-1F11-4F70-80A7-FCE5328C439BQ28749118-8855EE66-6C9C-492A-9DE5-38BFC320F882Q30365318-55475803-1E38-4506-8EE6-144B87E83073Q30398662-B40F1E92-738A-4129-870C-598203C19B0FQ30440245-E46B9CD6-CAF3-4114-AE19-070234F5921CQ30452637-74A67628-955F-4E84-BBC7-4127C9723E9CQ30454015-5489250B-4E2A-417A-961A-E0827E4E6E0DQ30472505-F325705C-CB22-4A07-BDF9-738B0791AE95Q30497077-52214DF0-0AE5-4E7F-A1E5-7DF2C3D42FE9Q30500251-66469ED9-3A09-4465-860B-8FEE985079B8Q30502974-9181C6B1-3393-4A39-831F-653E3CFD2D12Q30513373-B54D1D28-2B6B-401D-8705-50B6DA789279Q33264887-E0FFCCBB-BEF0-49B1-A7E0-2EB65F61D634Q33339198-FA731BCE-8D13-4E75-8C18-1E3856A8C1D5Q33373673-E025BC9A-914D-4883-9AE2-FC49E2051A43Q33620800-4C38CC66-5B30-42B8-AE3D-83AEB0382CD5Q33769778-E5420720-3C52-4024-8C49-25E67EA5F0C9Q33793330-41B19CC9-D122-41DA-B6D6-308028AB7CA1Q33876930-FF2E973B-2577-4F24-8132-D55E9F904CB0Q34033991-42323F3C-176E-40C7-8DDF-46B65C0844EEQ34062077-82A33EAF-A300-47EC-9AAA-F70B1BB19080Q34103649-775523B3-B897-4F13-80CB-5BABF2DC6220Q34747004-5B967728-1B21-4E9E-AD44-94DD96076F5BQ35212474-58CA43BA-88CA-4EF2-9C5C-120E39A2DB47Q35795161-1A66E649-C3BF-47B2-8C84-988C1F42AAEB
P2860
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
MYO6, the human homologue of t ...... nant nonsyndromic hearing loss
@nl
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@ast
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@en
type
label
MYO6, the human homologue of t ...... nant nonsyndromic hearing loss
@nl
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@ast
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@en
prefLabel
MYO6, the human homologue of t ...... nant nonsyndromic hearing loss
@nl
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@ast
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@en
P2093
P2860
P50
P3181
P356
P1476
MYO6, the human homologue of t ...... ant nonsyndromic hearing loss.
@en
P2093
E Di Iorio
K B Avraham
M L Arbones
P Gasparini
S Melchionda
P2860
P304
P3181
P356
10.1086/323156
P407
P50
P577
2001-07-20T00:00:00Z