Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. - Wikidata - thesis-toulmin - TriplyDB

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

http://www.wikidata.org/entity/Q48718643

about

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.Transcriptional regulation of the pendrin gene.Ion homeostasis in the ear: mechanisms, maladies, and management.Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects Mechanisms of otoconia and otolith development Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis The SLC26 gene family of anion transporters and channels.Analysis of cellular localization and function of carboxy-terminal mutants of pendrin Pendrin function and regulation in Xenopus oocytes Identification of allelic variants of pendrin (SLC26A4) with loss and gain of function.Molecular and functional characterization of human pendrin and its allelic variants.Current status of auditory aging and anti-aging research.The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.Screening of SLC26A4 gene in autoimmune thyroid diseases.The rocky road toward clinical genetic testing: insights into the physio-genetic basis of hearing loss The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

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P2860

Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

http://www.wikidata.org/entity/Q48718643

description

2009 nî lūn-bûn

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2009年の論文

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年学术文章

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2009年學術文章

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2009年學術文章

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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type

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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PHYSIOLGENOMICS.00047.2009

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Physiological Genomics

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Distinct and novel SLC26A4/Pen ...... ith nonsyndromic hearing loss.

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P2093

Andrew K Stewart

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Ann Hsu

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Bai-Lin Wu

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David T Miller

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Deliang Huang

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Dongyang Kang

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Dongyi Han

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Fei Yu

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Fouad Chebib

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Hong Fang

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P2860

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

SLC26A9 is a Cl(-) channel regulated by the WNK kinases

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

SLC26A7 is a Cl- channel regulated by intracellular pH

Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.

Analysis of the human neurofibromatosis type 2 gene promoter and its expression.

Pendred syndrome--100 years of underascertainment?

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281-290

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10.1152/PHYSIOLGENOMICS.00047.2009

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3

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38

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2009-06-09T00:00:00Z

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26278658

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19509082

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