(Q33892851)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

review article

1 reference

title

Connexin gene mutations in human genetic diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

V Krutovskikh

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H Yamasaki

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

1 April 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

462

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

2-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

197-207

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

The gap junction communication channel

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Gap junctions: new tools, new answers, new questions

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Dominant-negative abrogation of connexin-mediated cell growth control by mutant connexin genes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Restoration of cell-to-cell communication in thyroid cell lines by transfection with and stable expression of the connexin-32 gene. Impact on cell proliferation and tissue-specific gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Gap junctional communication modulates gene expression in osteoblastic cells

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Cardiac malformation in neonatal mice lacking connexin43.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Defects in the germ line and gonads of mice lacking connexin43

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

High incidence of spontaneous and chemically induced liver tumors in mice deficient for connexin32.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Female infertility in mice lacking connexin 37

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Opposite voltage gating polarities of two closely related connexins.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Mutational analysis of gap junction formation

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Identification of a pore lining segment in gap junction hemichannels.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Gating of cx46 gap junction hemichannels by calcium and voltage

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Identification of a proline residue as a transduction element involved in voltage gating of gap junctions.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Human connexin 37 is polymorphic but not mutated in tumours

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Functional analysis of human cardiac gap junction channel mutants

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Altered trafficking of mutant connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A new era in the genetics of deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin 26 gene linked to a dominant deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin mutations and hearing loss.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin mutations in deafness.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

One connexin, two diseases

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

Connexin43 mutations in sporadic and familial defects of laterality

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5742%2800%2900037-5

7 January 2021

10.1016/S1383-5742(00)00037-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10767631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference