SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct - Wikidata - wikimedia - TriplyDB

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

http://www.wikidata.org/entity/Q27010177

about

STAS domain structure and function SLC26A4 targeted to the endolymphatic sac rescues hearing and balance in Slc26a4 mutant mice.Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.Ephrin-B2 governs morphogenesis of endolymphatic sac and duct epithelia in the mouse inner ear.Mouse models for pendrin-associated loss of cochlear and vestibular function A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.Potential treatments for genetic hearing loss in humans: current conundrums.Early deterioration of residual hearing in patients with SLC26A4 mutations.DENTAL ENAMEL FORMATION AND IMPLICATIONS FOR ORAL HEALTH AND DISEASE.Deafness gene mutations in newborns in Beijing.Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC26A4 genotypes.A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.[Hereditary hearing loss: Part 2: Syndromic forms of hearing loss].Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.[Hereditary hearing loss: Part 1: diagnostic overview and practical advice].Prenatal diagnosis of SLC26A4 mutation and delayed onset of hearing loss.DOCA sensitive pendrin expression in kidney, heart, lung and thyroid tissues.The ESF meeting on "The proteomics, epigenetics and pharmacogenetics of pendrin".

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P2860

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

http://www.wikidata.org/entity/Q27010177

description

2011 nî lūn-bûn

@nan

2011 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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type

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SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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prefLabel

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

@ast

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

@en

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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Cellular Physiology and Biochemistry

P1476

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct

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P2093

Andrew J Griffith

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

Byung Yoon Choi

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

Carmen C Brewer

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Christopher K Zalewski

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James C Reynolds

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Julie Muskett

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Kelly A King

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Parna Chattaraj

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Philine Wangemann

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Seth L Alper

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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)

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

Nonsyndromic hearing impairment: unparalleled heterogeneity

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

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

Molecular analysis of the PDS gene in Pendred syndrome

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

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545-552

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scholarly article

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1938097

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10.1159/000335119

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3

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28

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2011-11-18T00:00:00Z

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51829684

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22116369

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3709178

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