Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

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The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct.Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations.

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P2860

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

Item

http://www.wikidata.org/entity/Q45332532

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

@zh

2013年学术文章

@zh-cn

2013年学术文章

@zh-hans

2013年学术文章

@zh-my

2013年学术文章

@zh-sg

2013年學術文章

@yue

2013年學術文章

@zh-hant

name

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@en

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@nl

type

Item

label

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@en

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@nl

prefLabel

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@en

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

@nl

P1476

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations

@en

P2093

Hong-Joon Park

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

Joong-Wook Shin

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

Ju Hyun Jeon

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

Mee Hyun Song

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

Un-Kyung Kim

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

Yoonjung Kim

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

P2860

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

Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion

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

A mutation in PDS causes non-syndromic recessive deafness

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.

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

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

Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin.

P304

E194-202

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P31

scholarly article

P356

10.1002/LARY.24504

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English

P433

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

P478

124

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P50

Kyung-A Lee

Jae Young Choi

P577

2013-12-13T00:00:00Z

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

P698

24338212

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Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

about

P2860

P2860

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

description

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698