| http://purl.uniprot.org/citations/30481776 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/30481776 | http://www.w3.org/2000/01/rdf-schema#comment | "Background/aimsEarly repolarization syndrome (ERS) has been recently recognized as early repolarization pattern with idiopathic ventricular fibrillation. However, the genetic background of ERS has not been fully understood.MethodsA Chinese family with sudden cardiac death associated with ERS was investigated. Direct sequencing of ERS susceptibility genes was performed on the proband and family members. Whole-cell patch-clamp methods were used to characterize the mutant channel expressed in HEK 293 cells.ResultsOne missense mutation (p. K801T) was found in the hERG (KCNH2 gene) by the direct sequencing of candidate genes. Whole cell voltage clamp studies of the K801T mutation in HEK 293 cells demonstrated a 1.5-fold increase in maximum steady state current (37.2±7.3 vs 20.3±4.4 pA/pF) that occurred at a 20 mV more positive potential compared to the wild type channels. The voltage dependence of inactivation was significantly shifted in the positive voltage direction (WT -59.5±1.4 vs K801T -44.3±1.2 mV). Kinetic analysis revealed slower inactivation rates of K801T, but faster rates of activation and deactivation. The hERG channel blockers tested inhibited K801T-hERG channel in concentration response, and the potencies of these drugs can be rank-ordered as follows: quinidine> disopyramide> sotalol> flecainide.ConclusionOur study indicated that the K801T mutation caused the gain of function of hERG channels that may account for the clinical phenotype of ERS. Quinidine and disopyramide could improve the function of K801T-hERG mutant channel, and may be therapeutic options for patients with the K801T hERG mutation."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.org/dc/terms/identifier | "doi:10.1159/000495549"xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Fan J."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Liu L.J."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Yao H."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Wu S.H."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Chen X.M."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Cheng Y.J."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/author | "Ji C.C."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/name | "Cell Physiol Biochem"xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/pages | "1301-1312"xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/title | "A Heterozygous Missense hERG Mutation Associated with Early Repolarization Syndrome."xsd:string |
| http://purl.uniprot.org/citations/30481776 | http://purl.uniprot.org/core/volume | "51"xsd:string |
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