Document Detail


Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.
MedLine Citation:
PMID:  20724725     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Over the past 15 years, gene mutations in cardiac ion channels have been linked to a host of potentially fatal human arrhythmias including long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. More recently, a new paradigm for human arrhythmia has emerged based on gene mutations that affect the activity of cardiac ion channel- and transporter- associated proteins. As part of the Circulation Research thematic series on inherited arrhythmias, this review focuses on the emerging field of human arrhythmias caused by dysfunction in cytosolic gene products (including ankyrins, yotiao, syntrophin, and caveolin-3) that regulate the activities of key membrane ion channels and transporters.
Authors:
Michael J Ackerman; Peter J Mohler
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Circulation research     Volume:  107     ISSN:  1524-4571     ISO Abbreviation:  Circ. Res.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-20     Completed Date:  2010-09-16     Revised Date:  2014-09-18    
Medline Journal Info:
Nlm Unique ID:  0047103     Medline TA:  Circ Res     Country:  United States    
Other Details:
Languages:  eng     Pagination:  457-65     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Animals
Arrhythmias, Cardiac / genetics*,  metabolism
Humans
Ion Channels / genetics,  metabolism
Membrane Transport Proteins / genetics*,  metabolism
Mutation / genetics*
Phenotype*
Syndrome
Grant Support
ID/Acronym/Agency:
HD42569/HD/NICHD NIH HHS; HL083422/HL/NHLBI NIH HHS; HL084583/HL/NHLBI NIH HHS; HL94291/HL/NHLBI NIH HHS; R01 HL083422/HL/NHLBI NIH HHS; R01 HL083422-04S1/HL/NHLBI NIH HHS; R01 HL083422-05/HL/NHLBI NIH HHS; R01 HL084583/HL/NHLBI NIH HHS; R01 HL084583-05/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Ion Channels; 0/Membrane Transport Proteins
Comments/Corrections

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