Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss. (Q47228969)

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30 December 2019

title

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss (English)

1 reference

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30 December 2019

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30 December 2019

Gülistan Meşe

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30 December 2019

Rickie Mui

series ordinal

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30 December 2019

Peter R Brink

series ordinal

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30 December 2019

Thomas W White

series ordinal

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30 December 2019

publication date

7 July 2004

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30 December 2019

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30 December 2019

volume

115

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30 December 2019

issue

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30 December 2019

page(s)

191-199

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Connexin40, a component of gap junctions in vascular endothelium, is restricted in its ability to interact with other connexins

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-004-1142-6

Connexin 26 studies in patients with sensorineural hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-004-1142-6

Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-004-1142-6

Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-004-1142-6

Connexin 26 Gene Mutations in Congenitally Deaf Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-004-1142-6

Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

21 January 2018

1 reference

12 December 2020

Genetic diseases and gene knockouts reveal diverse connexin functions.

1 reference

12 December 2020

Connexin mutations in hearing loss, dermatological and neurological disorders.

1 reference

12 December 2020

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

1 reference

12 December 2020

Gap Junction Systems in the Rat Vestibular Labyrinth: Immunohistochemical and Ultrastructural Analysis

1 reference

12 December 2020

High frequency hearing loss correlated with mutations in the GJB2 gene

1 reference

12 December 2020

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

1 reference

12 December 2020

Cardiac gap junction channels show quantitative differences in selectivity

1 reference

12 December 2020

Connexin mutations in deafness

1 reference

12 December 2020

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

12 December 2020

Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families

1 reference

12 December 2020

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

12 December 2020

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

1 reference

12 December 2020

Gap junctions: structure and function (Review).

1 reference

12 December 2020

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

1 reference

12 December 2020

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing

1 reference

12 December 2020

Connexins and gap junctions in the inner ear

1 reference

12 December 2020

Connexin 26 R143W Mutation Associated with Recessive Nonsyndromic Sensorineural Deafness in Africa

1 reference

12 December 2020

GJB2 gene mutations causing familial hereditary deafness in Turkey.

1 reference

12 December 2020

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

1 reference

12 December 2020

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

1 reference

12 December 2020

Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis

1 reference

12 December 2020

Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations

1 reference

12 December 2020

Hearing loss: frequency and functional studies of the most common connexin26 alleles

1 reference

12 December 2020

Multiple connexin proteins in single intercellular channels: connexin compatibility and functional consequences

1 reference

12 December 2020

Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene

1 reference

12 December 2020

Biophysical properties of mouse connexin30 gap junction channels studied in transfected human HeLa cells.

1 reference

12 December 2020

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

12 December 2020

Hearing loss and connexin 26.

1 reference

12 December 2020

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

1 reference

12 December 2020

Equilibrium properties of a voltage-dependent junctional conductance.

1 reference

12 December 2020

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

1 reference

12 December 2020

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death

1 reference

12 December 2020

Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage

1 reference

12 December 2020

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness

1 reference

12 December 2020

Molecular genetics of hearing loss

1 reference

12 December 2020

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

1 reference

12 December 2020

Connexin 26: required for normal auditory function

1 reference

12 December 2020

Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness

1 reference

12 December 2020

Functional analysis of human Cx26 mutations associated with deafness

1 reference

12 December 2020

10.1007/S00439-004-1142-6

Identifiers

DOI

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release_6hlsgwf63fdczncwtz7udypwqu

30 December 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/6hlsgwf63fdczncwtz7udypwqu

24 November 2022

mapped directly with Wikidata item

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