A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
about
Rapid cell-cycle reentry and cell death after acute inactivation of the retinoblastoma gene product in postnatal cochlear hair cellsImpairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.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.Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India.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.Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.Auditory neuropathy--neural and synaptic mechanisms.AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.
P2860
Q24648887-ECB64CF8-3473-4A45-9F03-0A13CA6838E3Q24649430-EDADCB38-20C5-4FAA-9F92-550CA61A842EQ30366118-1B69F529-A4E9-4FB8-A75B-C7AF35DF7A4EQ30370049-E0226865-B8EC-4F7F-8CC5-2E5828E4792DQ30388543-ED10AC39-0BBF-4805-B34A-CE916F95A716Q30410898-543FBE7D-8D66-4F7A-9B65-8AF44FD4A292Q30457932-D314A4B8-D56B-48A4-9965-9632843B821FQ30461491-A32848DA-86F3-4838-A1C5-0D43D1E280B3Q30496068-D6749723-34F1-47F7-B1B2-26CAE598B578Q30540894-FDD7DE7E-2199-4916-BE18-60666A32701DQ30842852-9DD5B512-1D7E-4E2D-9831-06B15A0834E9Q38732061-6D580A86-C257-499B-9E8A-5C5537125D55Q38739507-B9E4B56C-85D1-46C4-B5DE-BFAEAFB1CB00Q43169359-178AB2C2-BB01-41F8-8B1E-1B7B5061BB97Q47132491-EA92DADA-B27C-4B9C-B5D6-DAA0E32B1F97Q52315750-AE0A6548-B056-435F-A5AF-8CC46B918E37
P2860
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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name
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
@en
A gene responsible for autosomal dominant auditory neuropathy
@nl
type
label
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
@en
A gene responsible for autosomal dominant auditory neuropathy
@nl
prefLabel
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.
@en
A gene responsible for autosomal dominant auditory neuropathy
@nl
P2093
P356
P1476
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21
@en
P2093
B J B Keats
M M Lesperance
T A Sivakumaran
P304
P356
10.1136/JMG.2004.020628
P407
P577
2004-11-01T00:00:00Z