(Q50358017)

6 March 2018

title

Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss. (English)

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6 March 2018

1 reference

Ching-Chyuan Su

1

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6 March 2018

Shuan-Yow Li

2

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6 March 2018

Yung-Chang Yen

3

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6 March 2018

Jhih-Hao Nian

4

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6 March 2018

Wei-Guang Liang

5

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6 March 2018

Jiann-Jou Yang

6

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6 March 2018

publication date

1 June 2013

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6 March 2018

Cell Biochemistry and Biophysics

published in

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6 March 2018

volume

66

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6 March 2018

issue

2

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6 March 2018

page(s)

277-286

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6 March 2018

https://scigraph.springernature.com/pub.10.1007/s12013-012-9481-8

exact match

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cites work

Hereditary deafness and phenotyping in humans

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Genetic epidemiology of hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Molecular genetics of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Genetic causes of hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

At the speed of sound: gene discovery in the auditory system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Genetics, genomics and gene discovery in the auditory system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Expression of connexin 31 in the developing mouse cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Evidence for a medial K+ recycling pathway from inner hair cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Connexin 26 gene linked to a dominant deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

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/10.1007%2FS12013-012-9481-8

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/10.1007%2FS12013-012-9481-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Gap junction structures. VI. Variation and conservation in connexon conformation and packing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Structural and functional diversity of connexin genes in the mouse and human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Strial dysfunction in mice with cochleo-saccular abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Expression patterns of connexin 29 (GJE1) in mouse and rat cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Connexin29 is highly expressed in cochlear Schwann cells, and it is required for the normal development and function of the auditory nerve of mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

ConSeq: the identification of functionally and structurally important residues in protein sequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Human connexin30.2/31.3 (GJC3) does not form functional gap junction channels but causes enhanced ATP release in HeLa cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Rapid determination of gap junction formation using HeLa cells microinjected with cDNAs encoding wild-type and chimeric connexins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Opposite voltage gating polarities of two closely related connexins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Structure of the connexin 26 gap junction channel at 3.5 A resolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Structural and functional studies of gap junction channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Structure of the amino terminus of a gap junction protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

The vertebrate connexin family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Asymmetric Configurations and N-terminal Rearrangements in Connexin26 Gap Junction Channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Connexin 32 of gap junctions contains two cytoplasmic calmodulin-binding domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Identification of a pore lining segment in gap junction hemichannels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Gap junctional hemichannel-mediated ATP release and hearing controls in the inner ear

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Ca2+ signaling in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

Physiological effects of extracellular nucleotides in the inner ear.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12013-012-9481-8

10.1007/S12013-012-9481-8

21 January 2018

Identifiers

DOI

1 reference

6 March 2018

1 reference

6 March 2018