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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.
2013
2013
Extracellular magnesium and calcium reduce myotonia in ClC-1 inhibited rat muscle
2012
2012
A new explanation for recessive myotonia congenita
Objective: To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC… 
Highly Cited
2007
Highly Cited
2007
Inhibition of Skeletal Muscle ClC-1 Chloride Channels by Low Intracellular pH and ATP*
Skeletal muscle acidosis during exercise has long been thought to be a cause of fatigue, but recent studies have shown that… 
Highly Cited
2001
Highly Cited
2001
Temperature dependence of human muscle ClC‐1 chloride channel
1 In the present work we investigated the dependence on temperature of the ionic conductance and gating of human muscle ClC‐1… 
1998
1998
PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness
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… 
Highly Cited
1997
Highly Cited
1997
Novel functions of clathrin light chains: clathrin heavy chain trimerization is defective in light chain-deficient yeast.
Clathrin is a major coat protein involved in sorting and retention of proteins at the late Golgi and in endocytosis from the cell… 
1997
1997
pH‐Dependent Interactions of Cd2+ and a Carboxylate Blocker with the Rat ClC‐1 Chloride Channel and Its R304E Mutant in the Sf‐9 Insect Cell Line
1 Gating of the skeletal muscle chloride channel (ClC‐1) is sensitive to extracellular pH. In this study, whole‐cell recording of… 
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… 
Highly Cited
1995
Highly Cited
1995
Absence of the Skeletal Muscle Sarcolemma Chloride Channel ClC-1 in Myotonic Mice (*)
The voltage-dependent chloride channel ClC-1 stabilizes resting membrane potential in skeletal muscle. Mutations in the ClC-1… 
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