Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts (Q34960772)

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Language	Label	Description	Also known as
English	Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Maria Bitner-Glindzicz

5

object named as

Maria Bitner-Glindzicz

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

author name string

Priya Landa

1

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Ann-Marie Differ

2

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Kaukab Rajput

3

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Lucy Jenkins

4

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

publication date

21 August 2013

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

14

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

85

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Genetics and phenomics of Pendred syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Pendred syndrome and iodide transport in the thyroid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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=3765178

8 July 2018

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=3765178

8 July 2018

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=3765178

8 July 2018

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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=3765178

8 July 2018

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE (PENDRED'S SYNDROME) A STUDY OF 207 FAMILIES.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Pendrin: an apical Cl-/OH-/HCO3- exchanger in the kidney cortex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Inwardly rectifying potassium channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

The Pendred syndrome gene encodes a chloride-iodide transport protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Molecular analysis of the PDS gene in Pendred syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

Radiological malformations of the ear in Pendred syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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=3765178

8 July 2018

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=3765178

8 July 2018

An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: its specific subcellular localization and correlation with the formation of endocochlear potential.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

8 July 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Audiometric and imaging characteristics of distal renal tubular acidosis and deafness.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 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://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

The association of deafness with thyroid dysfunction.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative gene

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-85

21 January 2018

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3765178

26 October 2018

Pendred syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23965030

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23965030

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1186/1471-2350-14-85

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

ResearchGate publication ID

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