Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss (Q33881296)

29 July 2017

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

1 reference

29 July 2017

1 reference

Talebizadeh Z

1

1 reference

29 July 2017

Kelley PM

2

1 reference

29 July 2017

Askew JW

3

1 reference

29 July 2017

Beisel KW

4

1 reference

29 July 2017

Smith SD

5

1 reference

29 July 2017

1 January 1999

1 reference

29 July 2017

1 reference

29 July 2017

14

1 reference

29 July 2017

6

1 reference

29 July 2017

493-501

1 reference

Structure and function of voltage-sensitive ion channels

29 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Developmental changes in the physiology of hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mitochondrial deafness mutations reviewed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Expression of a potassium current in inner hair cells during development of hearing in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Strategies for multilocus linkage analysis in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Distinct expression patterns of notch family receptors and ligands during development of the mammalian inner ear

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Action potentials and underlying voltage-dependent currents studied in cultured spiral ganglion neurons of the postnatal gerbil.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Sodium and potassium currents of type I spiral ganglion cells from rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Divalent cations inhibit IsK/KvLQT1 channels in excised membrane patches of strial marginal cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Voltage-activated K channel in luminal membrane of marginal cells of stria vascularis dissected from guinea pig.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Nonsyndromic hearing impairment is associated with a mutation in DFNA5

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Ion transport mechanisms responsible for K+ secretion and the transepithelial voltage across marginal cells of stria vascularis in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Patch clamped responses from outer hair cells in the intact adult organ of Corti

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

Making a submicroscopic hole in one

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28199912%2914%3A6%3C493%3A%3AAID-HUMU8%3E3.0.CO%3B2-P

10.1002/(SICI)1098-1004(199912)14:6<493::AID-HUMU8>3.0.CO;2-P

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference