(Q37189151)

English

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome

scientific article published on 07 May 2009

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

1 reference

based on heuristic

inferred from title

enlarged vestibular aqueduct

1 reference

based on heuristic

inferred from title

Philine Wangemann

5

object named as

Philine Wangemann

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

author name string

Tao Yang

1

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Jose G Gurrola

2

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Hao Wu

3

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Sui M Chiu

4

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Peter M Snyder

6

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Richard J H Smith

7

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

language of work or name

0 references

publication date

7 May 2009

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

84

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

651-657

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Common and rare variants in multifactorial susceptibility to common diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Genotype-phenotype correlations for SLC26A4-related deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Mutational analysis of the tyrosine phosphatome in colorectal cancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Pendred syndrome redefined. Report of a new family with fluctuating and progressive hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Dye-coupling of melanocytes with endothelial cells and pericytes in the cochlea of gerbils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

A mutation in PDS causes non-syndromic recessive deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

Subunit positional effects revealed by novel heteromeric inwardly rectifying K+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

6 September 2017

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

14 September 2017

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

26 June 2018

Intravascularly applied K(+)-channel blockers suppress differently the positive endocochlear potential maintained by vascular perfusion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

26 June 2018

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

3 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2681005

4 December 2018

The immunohistochemical analysis of pendrin in the mouse inner ear

1 reference

https://pubmed.ncbi.nlm.nih.gov/19426954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of potassium permeability of cochlear duct by perilymphatic perfusion of barium

1 reference

https://pubmed.ncbi.nlm.nih.gov/19426954

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2009.04.014

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

18 August 2017

ResearchGate publication ID

0 references

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