SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. - Wikidata - wikimedia - TriplyDB

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

http://www.wikidata.org/entity/Q50466201

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Autosomal recessive nonsyndromic deafness genes: a review Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis 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 The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance.Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.Bioinformatic Analysis of GJB2 Gene Missense Mutations.Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.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 deafness Etiology and audiological outcomes at 3 years for 364 children in Australia.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Deafness mutation mining using regular expression based pattern matching.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.Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.Endolymphatic Na⁺ and K⁺ concentrations during cochlear growth and enlargement in mice lacking Slc26a4/pendrin.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct SLC26A4 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 Simulations Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.SLC26A4 mutations in patients with moderate to severe hearing loss Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

http://www.wikidata.org/entity/Q50466201

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2006 nî lūn-bûn

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2006年の論文

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年学术文章

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2006年學術文章

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2006年學術文章

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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SJ.EJHG.5201611

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European Journal of Human Genetics

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SLC26A4 gene is frequently inv ...... duct in Caucasian populations.

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P2093

Alain Joannard

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Albert David

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Annie Sergent-Allaoui

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Bruno Delobel

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Catherine Calais

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Christine Francannet

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Delphine Feldmann

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Eréa-Noël Garabédian

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Françoise Denoyelle

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Françoise Duriez

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P2860

The Pendred syndrome gene encodes a chloride-iodide transport protein

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

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model.

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

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

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

Diagnostic yield of high-resolution computed tomography for pediatric sensorineural hearing loss.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness

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10.1038/SJ.EJHG.5201611

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Christine Petit

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