Skip to search formSkip to main contentSkip to account menu

CLCN1 gene

Known as: CLCN1, Thomsen disease, autosomal dominant, chloride voltage-gated channel 1 
National Institutes of Health

Related topics

Related topics

5 relations
CLCN2 geneCLCN3 geneCLCN4 geneCLCN5 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Identification of novel mutations of the CLCN1 gene for myotonia congenital in China
Objectives: The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could… 
2014
2014
Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita
ClC-1 is a member of a large family of voltage-gated chloride channels, abundantly expressed in human skeletal muscle. Mutations… 
2011
2011
Identification of secondary effects of hyperexcitability by proteomic profiling of myotonic mouse muscle.
Myotonia is a symptom of various genetic and acquired skeletal muscular disorders and is characterized by hyperexcitability of… 
2011
2011
On the localization of ClC-1 in skeletal muscle fibers
We read with interest the recent article by Lueck et al. (2010) and the related commentary by Zifarelli and Pusch (2010) and wish… 
2007
2007
Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation…
  • T. Cooper
  • American Journal of Physiology - Cell Physiology
  • 2007
  • Corpus ID: 8438153
productive investigations of disease mechanisms that also reveal new information about normal regulation elicit a particularly… 
2005
2005
Differential expression of the human chloride channel genes in the trabecular meshwork under stress conditions.
2004
2004
Characterization of three myotonia‐associated mutations of the CLCN1 chloride channel gene via heterologous expression
Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described… 
2004
2004
Permeation dynamics of chloride ions in the ClC-0 and ClC-1 channels
1998
1998
Relevance of the D13 Region to the Function of the Skeletal Muscle Chloride Channel, ClC-1*
Although hydropathy analysis of the skeletal muscle chloride channel protein, ClC-1, initially predicted 13 potential membrane… 
1997
1997
Alternative mRNA splice variants of the rat ClC-2 chloride channel gene are expressed in lung: genomic sequence and organization of ClC-2.
The ClC-2 epithelial cell chloride channel is a voltage-, tonicity- and pH-regulated member of the ClC super family. We have… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)