Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
about
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)Genetic factors that might lead to different responses in individuals exposed to perchlorate.Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-AnalysisGenetics of hearing and deafnessSLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueductPendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlationsPOU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing lossA New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.Integration of human and mouse genetics reveals pendrin function in hearing and deafnessPatients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS)Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.The solute carrier 26 family of proteins in epithelial ion transport.The role of the STAS domain in the function and biogenesis of a sulfate transporter as probed by random mutagenesis.Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypesEfficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.Temporal bone abnormalities in children with GJB2 mutationsPathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.Influence of dietary iodine deficiency on the thyroid gland in Slc26a4-null mutant mice.Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models.Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafnessMouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisitionSLC26A4 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 genetic bases for non-syndromic hearing loss among ChineseMutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.Different cortical metabolic activation by visual stimuli possibly due to different time courses of hearing loss in patients with GJB2 and SLC26A4 mutationsIdentification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.The large vestibular aqueduct--case report and review of the literature.The HSP70 co-chaperone DNAJC14 targets misfolded pendrin for unconventional protein secretion.The responsible genes in Japanese deafness patients and clinical application using Invader assay.Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroidHypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?Construction of a DNA chip for screening of genetic hearing loss.
P2860
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P2860
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
description
1999 nî lūn-bûn
@nan
1999 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@ast
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@en
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@nl
type
label
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@ast
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@en
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@nl
prefLabel
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@ast
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@en
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@nl
P2093
P3181
P356
P1433
P1476
Non-syndromic hearing loss ass ...... uct is caused by PDS mutations
@en
P2093
P2888
P304
P3181
P356
10.1007/S004390050933
P407
P577
1999-02-01T00:00:00Z
P6179
1013637482