|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2006-8-1
|
|
pubmed:abstractText |
Brugada syndrome is associated with a high risk of sudden cardiac death and is caused by mutations in the cardiac voltage-gated sodium channel gene. Previously, the R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome. In a family carrying the R282H-SCN5A mutation, an asymptomatic individual had a common H558R-SCN5A polymorphism and the mutation on separate chromosomes. Therefore, we hypothesized that the polymorphism could rescue the mutation.
|
|
pubmed:commentsCorrections |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1524-4539
|
|
pubmed:author |
pubmed-author:AnaclerioMatteoM,
pubmed-author:ChahineMohamedM,
pubmed-author:DeschênesIsabelleI,
pubmed-author:DudashLynnL,
pubmed-author:ForleoCinziaC,
pubmed-author:GuidaPietroP,
pubmed-author:IacovielloMassimoM,
pubmed-author:PitzalisMariavittoriaM,
pubmed-author:PoelzingStevenS,
pubmed-author:RomitoRobertaR,
pubmed-author:SamodellMelissaM,
pubmed-author:SorrentinoSandroS,
pubmed-author:TroccoliRossellaR
|
|
pubmed:issnType |
Electronic
|
|
pubmed:day |
1
|
|
pubmed:volume |
114
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
368-76
|
|
pubmed:dateRevised |
2011-7-22
|
|
pubmed:meshHeading |
pubmed-meshheading:16864729-Arrhythmias, Cardiac,
pubmed-meshheading:16864729-Cell Line,
pubmed-meshheading:16864729-Cell Membrane,
pubmed-meshheading:16864729-DNA,
pubmed-meshheading:16864729-Death, Sudden, Cardiac,
pubmed-meshheading:16864729-Electrophysiology,
pubmed-meshheading:16864729-Female,
pubmed-meshheading:16864729-Gene Expression Regulation,
pubmed-meshheading:16864729-Humans,
pubmed-meshheading:16864729-Immunohistochemistry,
pubmed-meshheading:16864729-Male,
pubmed-meshheading:16864729-Muscle Proteins,
pubmed-meshheading:16864729-Mutation, Missense,
pubmed-meshheading:16864729-Pedigree,
pubmed-meshheading:16864729-Polymorphism, Single Nucleotide,
pubmed-meshheading:16864729-Proteins,
pubmed-meshheading:16864729-Risk Factors,
pubmed-meshheading:16864729-Sodium Channels,
pubmed-meshheading:16864729-Syndrome
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
|
|
pubmed:affiliation |
Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, 2500 MetroHealth Dr, Rammelkamp 658, Cleveland, OH 44109-1998, USA.
|
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
