The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
about
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairmentHypothesis of K+-Recycling Defect Is Not a Primary Deafness Mechanism for Cx26 (GJB2) DeficiencyPannexin 1 deficiency can induce hearing lossConnexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing.Active cochlear amplification is dependent on supporting cell gap junctionsCell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss.A rapid and sensitive assay of intercellular coupling by voltage imaging of gap junction networksThe p.Cys169Tyr variant of connexin 26 is not a polymorphismThe human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activityContribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan.A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairmentFeatures of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall.Progressive age-dependence and frequency difference in the effect of gap junctions on active cochlear amplification and hearing.Gap junction mediated miRNA intercellular transfer and gene regulation: A novel mechanism for intercellular genetic communication.In vivo genetic manipulation of inner ear connexin expression by bovine adeno-associated viral vectors.Connexin26 gap junction mediates miRNA intercellular genetic communication in the cochlea and is required for inner ear development.Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders.DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.Identification of D179H, a novel missense GJB2 mutation in a western Sicily family.Knockout of Pannexin-1 Induces Hearing Loss.
P2860
Q27009501-8D0F078A-9CA7-4313-B17B-1406AF103466Q28536919-69C5ACC8-8C01-4EE5-83C9-2787AB34389AQ30354613-6126C8B1-FDB6-49D8-A402-CA857F9CA412Q30378885-C7DAD5AB-B0C0-44F7-BED2-25082DE808C3Q30393279-49855A27-1D66-45E5-A183-DA3598252F50Q30409754-B44E35D7-3EE5-4260-94BD-7699BBED2B26Q30452999-D96C2F7C-3846-4F94-97AA-2502876D03B3Q30525586-14C25F7E-41A9-464E-80F9-261DC3B11BEAQ30557012-2D02C035-B9EB-4324-817A-36B7C6C687ADQ35253161-5DF519D7-19EC-43FF-96E0-3BAE58671D48Q36923559-4DC6C332-BB45-4EAA-A473-2C199527295FQ37004428-20E8F7EF-8920-4F4D-BD51-28C2CDE3E246Q37556411-D22880FF-F6D8-4172-8016-1F60C65AD854Q38609106-EACA3A5A-11E5-4EF3-BBF4-315D00CC5D4DQ38616996-F8EB4B5D-477F-4141-A9C5-CDE30FEB1637Q38759419-2495B3E2-7E9D-49A1-BA42-9664FA2B7B4AQ38799237-BC14C4B0-A499-4307-960E-3FAB0A23C552Q40094052-64BF7CF3-03BF-40BF-A026-9582582C0FA0Q40404502-D64C94CD-D8EC-43B6-B323-B255D264589FQ41758796-DD652A33-BF8D-4433-A7B5-12471EEF0846Q41968817-65F63561-95FB-42AA-A945-1ACB8F51EB16Q47222280-B600405D-E63A-473C-A57C-6B46CAD37B66Q50317243-2565E32B-17D9-4F81-B32D-16A2EA099544Q50356925-A9C32D69-DA31-4814-B3D7-F8DD68E0862EQ55401310-F321CACC-FB1C-4F60-9CDE-ED07EC0A8B21
P2860
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@en
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@nl
type
label
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@en
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@nl
prefLabel
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@en
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@nl
P356
P1476
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
@en
P304
P356
10.2741/3910
P577
2011-06-01T00:00:00Z