| Defining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins. | |
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MedLine Citation:
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PMID: 20724725 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Michael J Ackerman; Peter J Mohler |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Circulation research Volume: 107 ISSN: 1524-4571 ISO Abbreviation: Circ. Res. Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-20 Completed Date: 2010-09-16 Revised Date: 2011-09-08 |
Medline Journal Info:
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Nlm Unique ID: 0047103 Medline TA: Circ Res Country: United States |
Other Details:
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Languages: eng Pagination: 457-65 Citation Subset: IM |
Affiliation:
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Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Rochester, Minn., USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Arrhythmias, Cardiac / genetics*, metabolism Humans Ion Channels / genetics, metabolism Membrane Transport Proteins / genetics*, metabolism Mutation / genetics* Phenotype* Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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HD42569/HD/NICHD NIH HHS; HL083422/HL/NHLBI NIH HHS; HL084583/HL/NHLBI NIH HHS; HL94291/HL/NHLBI NIH HHS; R01 HL083422-04S1/HL/NHLBI NIH HHS; R01 HL083422-05/HL/NHLBI NIH HHS; R01 HL084583-05/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Ion Channels; 0/Membrane Transport Proteins |
| Comments/Corrections | |
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