Cellular and Molecular Mechanisms of Autosomal Dominant Form of Progressive Hearing Loss, DFNA2 (Q30497891)

16 October 2017

Cellular and Molecular Mechanisms of Autosomal Dominant Form of Progressive Hearing Loss, DFNA2 (English)

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https://api.crossref.org/works/10.1074/JBC.M110.179010

7 August 2024

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4

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author name string

Hyo Jeong Kim

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1

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16 October 2017

Ping Lv

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2

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16 October 2017

Choong-Ryoul Sihn

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3

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16 October 2017

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English

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publication date

21 October 2010

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full work available at URL

16 October 2017

http://www.jbc.org/article/S0021925820563412/pdf

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Portable Document Format

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http://intl.jbc.org/cgi/content/abstract/286/2/1517

7 August 2024

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20966080

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20966080/pdf/?tool=EBI

7 August 2024

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20966080/?tool=EBI

7 August 2024

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https://europepmc.org/articles/PMC3020760

7 August 2024

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https://doi.org/10.1074/jbc.m110.179010

7 August 2024

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20966080

https://api.elsevier.com/content/article/PII:S0021925820563412?httpAccept=text/xml

7 August 2024

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https://api.elsevier.com/content/article/PII:S0021925820563412?httpAccept=text/plain

7 August 2024

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https://api.crossref.org/works/10.1074/JBC.M110.179010

https://syndication.highwire.org/content/doi/10.1074/jbc.M110.179010

7 August 2024

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Journal of Biological Chemistry

7 August 2024

published in

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16 October 2017

286

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16 October 2017

2

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16 October 2017

1517-1527

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Kv7-type channel currents in spiral ganglion neurons: involvement in sensorineural hearing loss

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Effect of salicylate on KCNQ4 of the guinea pig outer hair cell

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Dominant-negative inhibition of M-like potassium conductances in hair cells of the mouse inner ear

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Conservation of hearing by simultaneous mutation of Na,K-ATPase and NKCC1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Salicylate induces tinnitus through activation of cochlear NMDA receptors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

K+ cycling and the endocochlear potential

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Potassium channels: how genetic studies of epileptic syndromes open paths to new therapeutic targets and drugs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Inhibition of cardiac delayed rectifier K+ currents by an antisense oligodeoxynucleotide against IsK (minK) and over-expression of IsK mutant D77N in neonatal mouse hearts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Neuronal KCNQ potassium channels: physiology and role in disease.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

A trafficking checkpoint controls GABA(B) receptor heterodimerization

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Auditory sensori-neural alterations induced by salicylate

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Regions responsible for the assembly of inwardly rectifying potassium channels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

20 June 2018

How the ear's works work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Primary structure of Torpedo marmorata chloride channel isolated by expression cloning in Xenopus oocytes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Determination of the subunit stoichiometry of a voltage-activated potassium channel

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.

20 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Roles of alternative splicing in the functional properties of inner ear-specific KCNQ4 channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

KvLQT1 modulates the distribution and biophysical properties of HERG. A novel alpha-subunit interaction between delayed rectifier currents

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Salicylate enables cochlear arachidonic-acid-sensitive NMDA receptor responses.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Salicylate induced changes in outer hair cell lateral wall stiffness

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Modulation of outer hair cell compliance and force by agents that affect hearing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.179010

Resting potential and submembrane calcium concentration of inner hair cells in the isolated mouse cochlea are set by KCNQ-type potassium channels.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

Effects of salicylate and lanthanides on outer hair cell motility and associated gating charge

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3020760

26 November 2018

Identifiers

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16 October 2017

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16 October 2017

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