Published in Hum Mol Genet on October 01, 1997
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A constitutively open potassium channel formed by KCNQ1 and KCNE3. Nature (2000) 3.75
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Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature (1991) 3.62
A chloride channel widely expressed in epithelial and non-epithelial cells. Nature (1992) 3.60
Two physically distinct pores in the dimeric ClC-0 chloride channel. Nature (1996) 3.58
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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet (2001) 3.15
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ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature (2000) 2.79
KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents. J Biol Chem (2000) 2.75
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Low single channel conductance of the major skeletal muscle chloride channel, ClC-1. Biophys J (1994) 2.28
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Epidural analgesia and uterine function. Obstet Gynecol (1995) 2.23
Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci U S A (1994) 2.17
Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J (1994) 2.08
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet (2000) 2.04
Permeation and block of the skeletal muscle chloride channel, ClC-1, by foreign anions. J Gen Physiol (1998) 2.02
Cloning and functional expression of rat CLC-5, a chloride channel related to kidney disease. J Biol Chem (1995) 2.00
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. Neuron (1995) 1.94
Molecular dissection of gating in the ClC-2 chloride channel. EMBO J (1997) 1.94
Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels. J Gen Physiol (1997) 1.92
Completely functional double-barreled chloride channel expressed from a single Torpedo cDNA. Proc Natl Acad Sci U S A (1991) 1.91
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption. EMBO J (2001) 1.86
Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors. J Physiol (2000) 1.79
Mutational analysis demonstrates that ClC-4 and ClC-5 directly mediate plasma membrane currents. J Biol Chem (1999) 1.78
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Pores formed by single subunits in mixed dimers of different CLC chloride channels. J Biol Chem (2000) 1.60
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet (1998) 1.58
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A (2001) 1.57
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Phenotypic variability in rippling muscle disease. Neurology (1999) 1.43
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Characterization of the hyperpolarization-activated chloride current in dissociated rat sympathetic neurons. J Physiol (1998) 1.39
A family of putative chloride channels from Arabidopsis and functional complementation of a yeast strain with a CLC gene disruption. J Biol Chem (1996) 1.38
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet (1995) 1.34
Golgi localization and functionally important domains in the NH2 and COOH terminus of the yeast CLC putative chloride channel Gef1p. J Biol Chem (1998) 1.33
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Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum Mol Genet (1997) 1.27
Chloride dependence of hyperpolarization-activated chloride channel gates. J Physiol (1999) 1.26
Inward rectification in ClC-0 chloride channels caused by mutations in several protein regions. J Gen Physiol (1997) 1.24
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ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. Hum Mol Genet (1998) 1.20
Independent gating of single pores in CLC-0 chloride channels. Biophys J (1997) 1.20
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet (2001) 1.20
Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet (1994) 1.18
X-linked retinitis pigmentosa: linkage with the centromere and a cloned DNA sequence from the proximal short arm of the X chromosome. Hum Genet (1985) 1.17
An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease. J Biol Chem (2000) 1.16
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Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. J Am Soc Nephrol (2000) 1.11
Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. Genomics (2001) 1.11
Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations. Hum Mol Genet (1997) 1.11
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New challenges for informed consent through whole genome array testing. J Med Genet (2009) 1.10
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A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. Am J Med Genet (1985) 0.99
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet (2011) 0.99
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