Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. (Q34597107)

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18 January 2020

title

Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness (English)

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18 January 2020

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5

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18 January 2020

1

Charles K Abrams

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18 January 2020

author name string

Mona M Freidin

2

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18 January 2020

Vytas K Verselis

3

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18 January 2020

Thaddeus A Bargiello

4

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18 January 2020

Gabriele Richard

6

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18 January 2020

Michael V L Bennett

7

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18 January 2020

Feliksas F Bukauskas

8

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18 January 2020

language of work or name

English

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publication date

20 March 2006

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Proceedings of the National Academy of Sciences of the United States of America

18 January 2020

published in

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18 January 2020

volume

103

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18 January 2020

issue

13

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18 January 2020

page(s)

5213-5218

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Expression of connexins in human preimplantation embryos in vitro

18 January 2020

cites work

1 reference

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Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Connexin expression patterns in the rat cornea: molecular evidence for communication compartments

7 July 2018

1 reference

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7 July 2018

Connexin gene pathology

1 reference

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Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

7 July 2018

1 reference

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Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells

7 July 2018

1 reference

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Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Connexin mutations in hearing loss, dermatological and neurological disorders.

7 July 2018

1 reference

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A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Coupling asymmetry of heterotypic connexin 45/ connexin 43-EGFP gap junctions: Properties of fast and slow gating mechanisms

7 July 2018

1 reference

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Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Biophysical properties of connexin-45 gap junction hemichannels studied in vertebrate cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Clustering of connexin 43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Changes in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

7 July 2018

1 reference

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

7 July 2018

1 reference

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Opposite voltage gating polarities of two closely related connexins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin

7 July 2018

1 reference

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Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

7 July 2018

1 reference

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

7 July 2018

1 reference

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Expression of connexin 31 in the developing mouse cochlea

7 July 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Segment-specific expression of connexin31 in the embryonic hindbrain is regulated by Krox20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation

21 January 2018

1 reference

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Cellular mechanisms of connexin32 mutations associated with CNS manifestations

21 January 2018

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Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

21 January 2018

1 reference

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Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

21 January 2018

1 reference

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Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Mutations of connexin32 in charcot-marie-tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Heterotypic gap junction channels (connexin26 ? connexin32) violate the paradigm of unitary conductance

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Multiple connexins contribute to intercellular communication in the Xenopus embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1073/PNAS.0511091103

Connexin32 Mutations Associated with X-Linked Charcot–Marie–Tooth Disease Show Two Distinct Behaviors: Loss of Function and Altered Gating Properties

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1458820

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease

26 October 2018

1 reference

12 December 2020

Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31

1 reference

12 December 2020

Altered Trafficking of Mutant Connexin32

1 reference

12 December 2020

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0511091103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549784 AND SRC:MED&resulttype=core&format=json

18 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16549784 AND SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

16549784

1 reference