(Q55475427)

12 July 2018

title

Point mutation associated with X-linked dominant Charcot-Marie-Tooth disease impairs the P2 promoter activity of human connexin-32 gene. (English)

1 reference

12 July 2018

author name string

Wang HL

1

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12 July 2018

Wu T

2

1 reference

12 July 2018

Chang WT

3

1 reference

12 July 2018

Li AH

4

1 reference

12 July 2018

Chen MS

5

1 reference

12 July 2018

Wu CY

6

1 reference

12 July 2018

Fang W

7

1 reference

12 July 2018

publication date

1 May 2000

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12 July 2018

published in

Molecular Brain Research

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12 July 2018

volume

78

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12 July 2018

issue

1-2

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12 July 2018

page(s)

146-153

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12 July 2018

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

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7 January 2021

Basal promoter of the rat connexin 32 gene: identification and characterization of an essential element and its DNA-binding protein

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7 January 2021

Localization of X-linked dominant Charcot-Marie-Tooth disease (CMT 2) to Xq13

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7 January 2021

Connexin32 and X-linked Charcot-Marie-Tooth disease

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7 January 2021

Multiple regulatory elements control transcription of the peripheral myelin protein zero gene

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7 January 2021

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

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7 January 2021

Connections with connexins: the molecular basis of direct intercellular signaling

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7 January 2021

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

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7 January 2021

Nerve injury and inflammatory cytokines modulate gap junctions in the peripheral nervous system

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7 January 2021

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

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7 January 2021

From neuro-glue ('Nervenkitt') to glia: a prologue

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7 January 2021

Altered trafficking of mutant connexin32

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7 January 2021

Connexins, connexons, and intercellular communication

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7 January 2021

Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics

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7 January 2021

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

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7 January 2021

Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein

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7 January 2021

Use of alternate promoters for tissue-specific expression of the gene coding for connexin32

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https://api.crossref.org/works/10.1016%2FS0169-328X%2800%2900087-5

7 January 2021

The human connexin32 gene is transcribed from two tissue-specific promoters

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7 January 2021

Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease

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7 January 2021

Eukaryotic transcription factor-DNA complexes.

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0169-328X%2800%2900087-5

7 January 2021

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

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7 January 2021

Changes in the properties of gap junctions during neuronal differentiation of hippocampal progenitor cells.

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7 January 2021

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

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7 January 2021

Molecular genetics of demyelination: new wrinkles on an old membrane

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7 January 2021

Connexin32-null mice develop demyelinating peripheral neuropathy

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7 January 2021

Two Mutations in the Promoter Region of the Human Protein C Gene Both Cause Type I Protein C Deficiency by Disruption of Two HNF-3 Binding Sites

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7 January 2021

Transcriptional activation: a complex puzzle with few easy pieces

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7 January 2021

Selective dye and ionic permeability of gap junction channels formed by connexin45.

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2800%2900087-5

7 January 2021

A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2800%2900087-5

7 January 2021

Identification and characterization of potential cis-regulatory elements governing transcriptional activation of the rat tyrosine hydroxylase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0169-328X%2800%2900087-5

7 January 2021

10.1016/S0169-328X(00)00087-5

Identifiers

DOI

1 reference

12 July 2018

1 reference

12 July 2018