(Q48718643)

14 February 2018

title

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

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14 February 2018

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15

David T Miller

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14 February 2018

author name string

Pu Dai

1

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14 February 2018

Andrew K Stewart

2

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14 February 2018

Fouad Chebib

3

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14 February 2018

Ann Hsu

4

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14 February 2018

Julia Rozenfeld

5

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14 February 2018

Deliang Huang

6

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14 February 2018

Dongyang Kang

7

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14 February 2018

Va Lip

8

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14 February 2018

Hong Fang

9

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14 February 2018

Hong Shao

10

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14 February 2018

Xin Liu

11

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14 February 2018

Fei Yu

12

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14 February 2018

Huijun Yuan

13

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14 February 2018

Margaret Kenna

14

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14 February 2018

Yiping Shen

16

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14 February 2018

Weiyan Yang

17

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14 February 2018

Israel Zelikovic

18

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14 February 2018

Orah S Platt

19

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14 February 2018

Dongyi Han

20

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14 February 2018

Seth L Alper

21

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14 February 2018

Bai-Lin Wu

22

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14 February 2018

publication date

9 June 2009

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14 February 2018

published in

Physiological Genomics

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14 February 2018

volume

38

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14 February 2018

issue

3

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14 February 2018

page(s)

281-290

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14 February 2018

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

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Electrogenic sulfate/chloride exchange in Xenopus oocytes mediated by murine AE1 E699Q.

21 January 2018

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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?

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Clinical and molecular analysis of three Mexican families with Pendred's syndrome

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

SLC26A7 is a Cl- channel regulated by intracellular pH

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

A mutation in PDS causes non-syndromic recessive deafness

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Newborn hearing screening--a silent revolution

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans

21 January 2018

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https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Pendred syndrome--100 years of underascertainment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Acute pH-dependent regulation of AE2-mediated anion exchange involves discrete local surfaces of the NH2-terminal cytoplasmic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Two frequent missense mutations in Pendred syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Deletion of the chloride transporter Slc26a9 causes loss of tubulovesicles in parietal cells and impairs acid secretion in the stomach

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

Heterogeneity in the processing defect of SLC26A4 mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1152%2FPHYSIOLGENOMICS.00047.2009

10.1152/PHYSIOLGENOMICS.00047.2009

21 January 2018

Identifiers

DOI

1 reference

14 February 2018

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14 February 2018