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• W1837109180 abstract "Ion channels reflect an important but still very new mechanism of disease, first formalized in 1989 with the discovery of mutations in the CFTR ion channel gene causing cystic fibrosis, thereby carving out a new category of genetic inborn error, the channelopathy. Now, however, ion channel disorders are recognized to cover the gamut of medical disciplines and to cause significant pathology in virtually every organ system. The opening of this era was driven largely by the success of positional cloning strategies in isolating the genes underlying the rare monogenic disorders of ion channels and the explosive growth in basic ion channel physiology and biophysics that rendered these pathogenic mutant alleles interpretable, but in addition crystal structures have recently become available. Ion channels are a large family of over 400 related proteins representing over 1% of our genetic endowment, and many of the features shared among the rare monogenic ion channel diseases provide a solid foundation to begin to target these mechanisms for the development of novel therapeutics. They also render members of this gene family important “functional candidates” in the much more common complex polygenic diseases.Keywords:Action potential;ADH;Aldosterone;Allele;Apical membrane;Aquaporin;Ataxia;Channel;Channelopathy;Depolarization;Diuretic;Dominant Allele;Dominant Negative Mutation;EKG;EMG;Environmental Disease;Epilepsy;Epithelium;Excitation-contraction Coupling;Gain-of-function Mutation;Gate;Gene Family;G-protein Coupled Receptor;Haploinsufficiency;Heteromultimer;Heterozygote;Homozygote;Hypermorphic;Hyperpolarization;Hypomorphic Mutation;Inactivation;Ion channel;Ligand-gated Ion Channel;Loss-of-function Mutation;Loss of Heterozygosity;Mendelian Disease;Migraine;Miniature Endplate Potentials (MEPPs);Monogenic Disease;Motor Endplate;Myotonia;Neomorphic Mutation;Nernst Equilibrium Potential;Neuromuscular Junction;Null Mutation;Pacemaker;Paracellular;Paralysis;Patch Electrode;Pathophysiological Mechanism;Permeability Pore;Pharmacogenetic Disease;Plateau Phase;Polygenic Disease;Primary Active Transport;QT Interval;Recessive Allele;Resorptive Epithelium;Sarcoplasmic Reticulum;Secondary Active Transport;Secretory Epithelium;Segregation;Seizure;Selective Advantage;Selectivity Filter;Splice Variant;Subcellular Compartment;Toxin;Transcellular;T-tubules;Voltage Clamp;Voltage-gated Ion Channel;Wild-type" @default.
• W1837109180 created "2016-06-24" @default.
• W1837109180 creator A5091295076 @default.
• W1837109180 date "2006-09-15" @default.
• W1837109180 modified "2023-09-23" @default.
• W1837109180 title "Receptor, Transporter and Ion Channel Diseases" @default.
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