Published in Neuromuscul Disord on September 06, 2007
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. Front Pharmacol (2011) 1.05
The KATP channel is a molecular sensor of atrophy in skeletal muscle. J Physiol (2010) 0.93
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery. Front Pharmacol (2016) 0.86
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. Br J Pharmacol (2017) 0.85
Commentary: A BK (Slo1) channel journey from molecule to physiology. Front Pharmacol (2017) 0.75
ATP Sensitive Potassium Channels in the Skeletal Muscle Function: Involvement of the KCNJ11(Kir6.2) Gene in the Determination of Mechanical Warner Bratzer Shear Force. Front Physiol (2016) 0.75
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis. Korean J Pediatr (2014) 0.75
Nerve Growth Factor, Brain-Derived Neurotrophic Factor and Osteocalcin Gene Relationship in Energy Regulation, Bone Homeostasis and Reproductive Organs Analyzed by mRNA Quantitative Evaluation and Linear Correlation Analysis. Front Physiol (2016) 0.75
Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study. Front Pharmacol (2017) 0.75
The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase. Science (2007) 9.86
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Crystal structure of the potassium channel KirBac1.1 in the closed state. Science (2003) 7.46
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Unique properties of mesoprefrontal neurons within a dual mesocorticolimbic dopamine system. Neuron (2008) 5.65
Overexpression of Fto leads to increased food intake and results in obesity. Nat Genet (2010) 4.37
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation (2007) 4.10
PiggyBac transposon-mediated gene transfer in human cells. Mol Ther (2007) 4.07
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01
Molecular basis of an inherited epilepsy. Neuron (2002) 3.77
Insulin action in AgRP-expressing neurons is required for suppression of hepatic glucose production. Cell Metab (2007) 3.69
Control of pancreatic β cell regeneration by glucose metabolism. Cell Metab (2011) 3.35
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest (2003) 3.00
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation (2002) 2.98
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes (2005) 2.95
PPAR gamma 2 prevents lipotoxicity by controlling adipose tissue expandability and peripheral lipid metabolism. PLoS Genet (2007) 2.91
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78
A mouse model for the metabolic effects of the human fat mass and obesity associated FTO gene. PLoS Genet (2009) 2.68
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56
I(h) channels contribute to the different functional properties of identified dopaminergic subpopulations in the midbrain. J Neurosci (2002) 2.43
Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis (2005) 2.43
Enhanced PIP3 signaling in POMC neurons causes KATP channel activation and leads to diet-sensitive obesity. J Clin Invest (2006) 2.38
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation (2007) 2.28
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry (2008) 2.22
Nicotinamide nucleotide transhydrogenase: a key role in insulin secretion. Cell Metab (2006) 2.21
Deletion of nicotinamide nucleotide transhydrogenase: a new quantitive trait locus accounting for glucose intolerance in C57BL/6J mice. Diabetes (2006) 2.17
Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol (2008) 2.04
Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics (2003) 2.03
A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. Lancet (2003) 2.02
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
NOS1AP is a genetic modifier of the long-QT syndrome. Circulation (2009) 2.00
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol (2008) 1.91
Cardiac ion channels. Annu Rev Physiol (2002) 1.90
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83
Myotonia congenita. Adv Genet (2008) 1.80
Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit. EMBO J (2005) 1.79
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci (2003) 1.77
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet (2007) 1.73
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A (2004) 1.72
Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol (2005) 1.70
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69
Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm (2004) 1.68
3-D structural and functional characterization of the purified KATP channel complex Kir6.2-SUR1. EMBO J (2005) 1.66
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 1.65
Disruption of Trp53 in livers of mice induces formation of carcinomas with bilineal differentiation. Gastroenterology (2012) 1.63
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet (2002) 1.60
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm (2008) 1.59
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol (2012) 1.58
Multiplexed transposon-mediated stable gene transfer in human cells. Proc Natl Acad Sci U S A (2010) 1.57
The role of the KATP channel in glucose homeostasis in health and disease: more than meets the islet. J Physiol (2010) 1.55
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol (2008) 1.53
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes. J Clin Invest (2008) 1.50
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation (2005) 1.48
Review. SUR1: a unique ATP-binding cassette protein that functions as an ion channel regulator. Philos Trans R Soc Lond B Biol Sci (2009) 1.47
Identification of the PIP2-binding site on Kir6.2 by molecular modelling and functional analysis. EMBO J (2007) 1.41
Enhanced dystrophic progression in mdx mice by exercise and beneficial effects of taurine and insulin-like growth factor-1. J Pharmacol Exp Ther (2003) 1.41
Elevated alpha-synuclein mRNA levels in individual UV-laser-microdissected dopaminergic substantia nigra neurons in idiopathic Parkinson's disease. Nucleic Acids Res (2008) 1.40
PIP(2)-binding site in Kir channels: definition by multiscale biomolecular simulations. Biochemistry (2009) 1.40
PVHL is a regulator of glucose metabolism and insulin secretion in pancreatic beta cells. Genes Dev (2008) 1.38
Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry (2007) 1.38
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation (2011) 1.38
Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome. Biochemistry (2007) 1.35
Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition. FEBS Lett (2005) 1.35
The genetic basis of variability in drug responses. Nat Rev Drug Discov (2002) 1.34
p53 deletion impairs clearance of chromosomal-instable stem cells in aging telomere-dysfunctional mice. Nat Genet (2009) 1.33
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep (2005) 1.32
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin. Science (2010) 1.31
Adult onset global loss of the fto gene alters body composition and metabolism in the mouse. PLoS Genet (2013) 1.31
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered (2007) 1.30
Studies of the ATPase activity of the ABC protein SUR1. FEBS J (2007) 1.28
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet (2014) 1.27
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. Circ Res (2014) 1.27
Chronic palmitate exposure inhibits insulin secretion by dissociation of Ca(2+) channels from secretory granules. Cell Metab (2009) 1.26
Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol. Biotechniques (2007) 1.26
Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice. Kidney Int (2004) 1.24
K-ATP channels in dopamine substantia nigra neurons control bursting and novelty-induced exploration. Nat Neurosci (2012) 1.24
Role for the obesity-related FTO gene in the cellular sensing of amino acids. Proc Natl Acad Sci U S A (2013) 1.24
Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. Brain Res Mol Brain Res (2002) 1.24
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ Res (2007) 1.23
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat Clin Pract Neurol (2007) 1.22
Identification of residues contributing to the ATP binding site of Kir6.2. EMBO J (2003) 1.22
The ligand-sensitive gate of a potassium channel lies close to the selectivity filter. EMBO Rep (2003) 1.20
Role of KATP channels in glucose-regulated glucagon secretion and impaired counterregulation in type 2 diabetes. Cell Metab (2013) 1.18
Strategy for encoding and comparison of gene expression signatures. Genome Biol (2007) 1.18
Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis (2006) 1.18
Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants. Biophys J (2003) 1.17
Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP. Hum Mol Genet (2005) 1.17