(Q73635198)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

review article

1 reference

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

C K Abrams

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

S Oh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Y Ri

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

T A Bargiello

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 April 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

203-214

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

5 November 2019

cites work

1 reference

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7 January 2021

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

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7 January 2021

Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

1 reference

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7 January 2021

Functional gap junctions in the schwann cell myelin sheath

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Two distinct gating mechanisms in gap junction channels: CO2-sensitive and voltage-sensitive

1 reference

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7 January 2021

A role for an inhibitory connexin in testis?

1 reference

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7 January 2021

Altered trafficking of mutant connexin32

1 reference

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7 January 2021

Electrophysiological studies in the different genotypes of Charcot-Marie-Tooth disease.

1 reference

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7 January 2021

X-linked neuropathy: gene localization with DNA probes

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Gap junctional coupling in lenses lacking alpha3 connexin

1 reference

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7 January 2021

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

1 reference

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7 January 2021

Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

X-linked dominant hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

The gap junction communication channel

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Electrodiagnostic findings in CMTX: a disorder of the Schwann cell and peripheral nerve myelin

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Connexin46 mutations in autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Central nervous system involvement in a novel connexin 32 mutation affecting identical twins

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Epidemiology of peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Cardiac malformation in neonatal mice lacking connexin43.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

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7 January 2021

Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

Female infertility in mice lacking connexin 37

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

Three-dimensional structure of a recombinant gap junction membrane channel

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

Opposite voltage gating polarities of two closely related connexins.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

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%2FS0165-0173%2899%2900082-X

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0165-0173%2899%2900082-X

7 January 2021

10.1016/S0165-0173(99)00082-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10751671%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference