CLCN1 gene

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

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Highly Cited
2011
Highly Cited
2011
Aβ (beta-amyloid peptide) is an important contributor to Alzheimer's disease (AD). We modeled Aβ toxicity in yeast by directing… (More)
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2009
2009
The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion… (More)
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2007
2007
The CLC-1 Cl(-) channel is abundantly expressed on the plasma membrane of muscle cells, and the membrane potential of muscle… (More)
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Highly Cited
2004
Highly Cited
2004
Insertional mutagenesis was applied to Cryptococcus neoformans to identify genes associated with virulence attributes. Using… (More)
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2002
2002
Myotonia is a condition characterized by impaired relaxation of muscle following sudden forceful contraction. We systematically… (More)
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Highly Cited
2001
Highly Cited
2001
CLC chloride channels comprise a gene family with nine mammalian members. Probably all CLC channels form homodimers, and some CLC… (More)
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2000
2000
OBJECTIVE To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1… (More)
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1997
1997
CLC chloride channels form a large and conserved gene family unrelated to other channel proteins. Knowledge of the transmembrane… (More)
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Highly Cited
1995
Highly Cited
1995
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by… (More)
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Highly Cited
1992
Highly Cited
1992
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease… (More)
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