Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? - Wikidata - wikimedia - TriplyDB

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

http://www.wikidata.org/entity/Q37144696

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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis Genetics of hearing and deafness SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct Controversies concerning the role of pendrin as an apical iodide transporter in thyroid follicular cells SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Progressive irreversible hearing loss is caused by stria vascularis degeneration in an Slc26a4-insufficient mouse model of large vestibular aqueduct syndrome Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction.Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?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.Transcriptional regulation of the pendrin gene.Etiology and audiological outcomes at 3 years for 364 children in Australia.Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.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.Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Topology of transmembrane channel-like gene 1 protein Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.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 subjects Mouse model of enlarged vestibular aqueducts defines temporal requirement of Slc26a4 expression for hearing acquisition Mouse models for pendrin-associated loss of cochlear and vestibular function Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China Challenges and solutions for gene identification in the presence of familial locus heterogeneity.The SLC26 gene family of anion transporters and channels.Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.Analysis of cellular localization and function of carboxy-terminal mutants of pendrin Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.Pendrin function and regulation in Xenopus oocytes Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.Reduction of cellular expression levels is a common feature of functionally affected pendrin (SLC26A4) protein variants.A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression.Molecular and functional characterization of human pendrin and its allelic variants.

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Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

http://www.wikidata.org/entity/Q37144696

description

article científic

@ca

article scientifique

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articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on April 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

@en

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

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type

label

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

@en

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

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prefLabel

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

@en

Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

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Hypo-functional SLC26A4 varian ...... or coincidental polymorphisms?

@en

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Andrew J Griffith

http://www.w3.org/2001/XMLSchema#string

Andrew K Stewart

http://www.w3.org/2001/XMLSchema#string

Anne C Madeo

http://www.w3.org/2001/XMLSchema#string

Byung Yoon Choi

http://www.w3.org/2001/XMLSchema#string

Carmen C Brewer

http://www.w3.org/2001/XMLSchema#string

Christopher K Zalewski

http://www.w3.org/2001/XMLSchema#string

David Eisenman

http://www.w3.org/2001/XMLSchema#string

H Jeffrey Kim

http://www.w3.org/2001/XMLSchema#string

James C Reynolds

http://www.w3.org/2001/XMLSchema#string

James Thomsen

http://www.w3.org/2001/XMLSchema#string

P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)

Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation

Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

A mutation in PDS causes non-syndromic recessive deafness

Two frequent missense mutations in Pendred syndrome

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599-608

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scholarly article

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10.1002/HUMU.20884

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4

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30

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P577

2009-04-01T00:00:00Z

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23995328

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19204907

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2663020

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