(Q36312094)

13 August 2017

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title

Connexins in hearing loss: a comprehensive overview (English)

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13 August 2017

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Karen B Avraham

3

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author name string

Adi D Sabag

series ordinal

1

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13 August 2017

Orit Dagan

series ordinal

2

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13 August 2017

publication date

1 January 2005

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Journal of Basic and Clinical Physiology and Pharmacology

13 August 2017

published in

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13 August 2017

volume

16

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13 August 2017

issue

2-3

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13 August 2017

page(s)

101-116

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Molecular genetics of hearing loss

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

21 January 2018

1 reference

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Gap junctions and the connexin protein family

21 January 2018

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Gap junctions: structure and function (Review).

21 January 2018

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Cochlear gap junctions coassembled from Cx26 and 30 show faster intercellular Ca2+ signaling than homomeric counterparts.

21 January 2018

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Connexin mutations in X-linked Charcot-Marie-Tooth disease

21 January 2018

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Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

21 January 2018

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Human diseases: clues to cracking the connexin code?

21 January 2018

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An expression atlas of connexin genes in the mouse

21 January 2018

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Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals

21 January 2018

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Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear.

21 January 2018

1 reference

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Expression of the gap-junction connexins 26 and 30 in the rat cochlea

21 January 2018

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Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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Connexin-26 mutations in sporadic and inherited sensorineural deafness

21 January 2018

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Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

21 January 2018

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Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

21 January 2018

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Prevalent connexin 26 gene (GJB2) mutations in Japanese

21 January 2018

1 reference

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A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

21 January 2018

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

21 January 2018

1 reference

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A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

21 January 2018

1 reference

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A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

21 January 2018

1 reference

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Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

21 January 2018

1 reference

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A diagnostic paradigm for childhood idiopathic sensorineural hearing loss.

21 January 2018

1 reference

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Genetic testing for hearing loss: different motivations for the same outcome.

21 January 2018

1 reference

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Attitudes of deaf adults toward genetic testing for hereditary deafness

21 January 2018

1 reference

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Prenatal diagnosis for inherited deafness--what is the potential demand?

21 January 2018

1 reference

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Performance of cochlear implant recipients with GJB2-related deafness

21 January 2018

1 reference

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The effect of GJB2 allele variants on performance after cochlear implantation.

21 January 2018

1 reference

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Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

Better speech performance in cochlear implant patients with GJB2-related deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

Successful cochlear implantation in prelingual profound deafness resulting from the common 233delC mutation of the GJB2 gene in the Japanese

21 January 2018

1 reference

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Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations.

21 January 2018

1 reference

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Cochlear implantation for children with GJB2-related deafness

21 January 2018

1 reference

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A genotype-phenotype correlation for GJB2 (connexin 26) deafness

21 January 2018

1 reference

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Auditory hair cell replacement and hearing improvement by Atoh1 gene therapy in deaf mammals

21 January 2018

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Mouse models for human deafness: current tools for new fashions

21 January 2018

1 reference

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Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

High carrier frequency of the 35delG deafness mutation in European populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

A Cα Model for the Transmembrane α Helices of Gap Junction Intercellular Channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJBCPP.2005.16.2-3.101

10.1515/JBCPP.2005.16.2-3.101

21 January 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference