Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.
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Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueductSLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.Expression of epithelial calcium transport system in rat cochlea and vestibular labyrinth.A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouseN-Myc and L-Myc are essential for hair cell formation but not maintenanceMolecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in ChinaProgressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndromeKCNK5 channels mostly expressed in cochlear outer sulcus cells are indispensable for hearingSlc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.Potassium ion movement in the inner ear: insights from genetic disease and mouse modelsILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells.The zebrafish merovingian mutant reveals a role for pH regulation in hair cell toxicity and function.Developmental changes of ENaC expression and function in the inner ear of pendrin knock-out mice as a perspective on the development of endolymphatic hydrops.Integration of human and mouse genetics reveals pendrin function in hearing and deafnessTranscriptional regulation of the pendrin gene.Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.The solute carrier 26 family of proteins in epithelial ion transport.A claudin-9-based ion permeability barrier is essential for hearing.Failure of fluid absorption in the endolymphatic sac initiates cochlear enlargement that leads to deafness in mice lacking pendrin expression.Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin.Calcium oxalate stone formation in the inner ear as a result of an Slc26a4 mutation.Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathologyDeterminants of coupled transport and uncoupled current by the electrogenic SLC26 transporters.Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Expression, functional, and structural analysis of proteins critical for otoconia developmentEndolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueductsAnion exchanger 1b in stereocilia is required for the functioning of mechanotransducer channels in lateral-line hair cells of zebrafish.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjectsMouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisitionMouse models for pendrin-associated loss of cochlear and vestibular functionSLC26A4 mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics SimulationsThe pendrin anion exchanger gene is transcriptionally regulated by uroguanylin: a novel enterorenal linkA new look at electrolyte transport in the distal tubuleThe gastric H,K-ATPase in stria vascularis contributes to pH regulation of cochlear endolymph but not to K secretion.Developmental expression of solute carrier family 26A member 4 (SLC26A4/pendrin) during amelogenesis in developing rodent teeth
P2860
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P2860
Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@ast
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@en
type
label
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@ast
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@en
prefLabel
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@ast
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@en
P2093
P2860
P1476
Loss of cochlear HCO3- secreti ...... Pendred syndrome mouse model.
@en
P2093
Daniel C Marcus
Donald G Harbidge
Erin M Itza
Joel D Sanneman
Kazuhiro Nakaya
Philine Wangemann
Rajanikanth J Maganti
Sara Billings
P2860
P304
P356
10.1152/AJPRENAL.00487.2006
P577
2007-02-13T00:00:00Z