Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
about
Remodeling of the Inner Hair Cell Microtubule Meshwork in a Mouse Model of Auditory Neuropathy AUNA1.Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.ACEMg Diet Supplement Modifies Progression of Hereditary Deafness.Gene expression underlying enhanced, steroid-dependent auditory sensitivity of hair cell epithelium in a vocal fish.The Drosophila auditory system.Gene therapy for deafness.Actin in hair cells and hearing loss.Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.Nerve maintenance and regeneration in the damaged cochlea.Information from cochlear potentials and genetic mutations helps localize the lesion site in auditory neuropathy.Cell type-specific transcriptome analysis reveals a major role for Zeb1 and miR-200b in mouse inner ear morphogenesis.Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRefinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing lossMutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Formin' cellular structures: Physiological roles of Diaphanous (Dia) in actin dynamics.Genotype phenotype correlations for hearing impairment: approaches to management.Insights into the effects of disease-causing mutations in human actins.Genetic investigations in childhood deafness.Republished: Genetic investigations in childhood deafness.AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.Auditory neuropathy--neural and synaptic mechanisms.Lack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors.A family-based genome-wide association study reveals an association of spondyloarthritis with MAPK14.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Actin assembly mechanisms at a glance.SMAD4 Defect Causes Auditory Neuropathy Via Specialized Disruption of Cochlear Ribbon Synapses in Mice.TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.DIAPH3 promoted the growth, migration and metastasis of hepatocellular carcinoma cells by activating beta-catenin/TCF signaling.Extrinsic sound stimulations and development of periphery auditory synapses.
P2860
Q30366118-9C25D286-B280-4785-B557-722C22689415Q30370049-6308C599-2C4F-4231-A4CA-60BEA4003404Q30388543-FE7D9C2E-B58A-4A47-A2C4-2E134BB277DCQ30401037-26F59727-EF8A-4328-AFA0-17E29B642F14Q30417874-4B801237-4B88-42CF-9A7A-16D9B9562DD5Q30434063-0F191CC0-33CB-486A-8179-417BCE8E6C4AQ30454015-37853EBB-C7AD-4F00-BAC7-94D095C5DA67Q30457932-190EA8B2-F1D7-44C1-8229-D39E6656E85CQ30461491-78ECA30A-606A-42C2-A637-1452744364F8Q30471980-EDD1840F-8F0A-499B-A21F-409C1BE1A618Q34042739-5DD844BA-8E75-4264-98CE-AE63A9A5F70EQ36250131-0E2EF16C-CAF5-4CC9-B4FC-2B42D0CF4278Q37186036-FDDCED5C-2ACC-4DF8-9D03-9BD9A0571D31Q37328514-D28FE31B-8968-4D6C-AF38-C93EBADE3FDBQ37386996-8F5837C9-3CD4-42BB-8EFE-CA18F12D39A4Q37441862-808FDE64-4508-466C-B151-9E946700396AQ37688846-A913A0D4-67FF-46D1-BD6D-34C333520D43Q38189123-9A36788F-5CA8-44CB-8B79-9593CFC1F992Q38191504-341D921A-68E8-47C0-81D3-D19160CEF7CFQ38260998-1CBA7C90-43BA-4049-AA66-EED3D725A74DQ38549793-5324B7DC-C832-4880-829F-EF45558093B1Q38732061-99A25382-BC15-4BF6-8ABD-741014ACD240Q38739507-2D4C32E2-0C63-4629-9DD9-68C8FC31B3ECQ39184383-56281F80-0335-46E6-9EAD-DE07F688A82AQ46144436-59B59FC7-9E89-4AD2-85F5-EBF2E03655C5Q47132491-EBE72AAC-8EC3-42B7-B125-A0D1A7A45663Q47612448-846BF9E1-D838-4154-922B-2AF03E0D9BE2Q50351652-BB7A3DA9-6D2A-412F-B05D-0674DDC9281CQ52315750-A2A417DA-4BE1-4F7B-ADB7-A86C9173AA9BQ52683812-89F308A0-A250-4AAA-B5C0-B31384B3134EQ55340234-FF788500-5FEF-40D4-A12E-2E9B52F0C996
P2860
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@ast
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@en
type
label
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@ast
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@en
prefLabel
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@ast
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@en
P2093
P2860
P356
P1476
Increased activity of Diaphano ...... neuropathy and in Drosophila.
@en
P2093
Cynthia J Schoen
Elzbieta Sliwerska
Frances Hannan
Hima R Ammana
Jameson Arnett
Marc C Thorne
Marci M Lesperance
Sarah B Emery
P2860
P304
13396-13401
P356
10.1073/PNAS.1003027107
P407
P577
2010-07-12T00:00:00Z