Linked Life Data

12062363

Source:http://linkedlifedata.com/resource/pubmed/id/12062363

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2002-6-13
pubmed:abstractText
In a 32-year-old woman with marked QT prolongation (QTc=0.61 s) and repeated episodes of syncope, we identified a single pertinent base substitution (G to A at 1909) in HERG by genetic analysis. This novel missense mutation is predicted to cause an amino acid substitution of lysine for glutamic acid at position 637 (E637K) in the pore-S6 loop. Therefore, we investigated the role of a glutamic acid at the vicinity of the pore in HERG channels by mutating it to a lysine.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0008-6363
pubmed:author
pubmed:issnType
Print
pubmed:volume
54
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
67-76
pubmed:dateRevised
2008-10-28
pubmed:meshHeading
pubmed-meshheading:12062363-Adult, pubmed-meshheading:12062363-Analysis of Variance, pubmed-meshheading:12062363-Animals, pubmed-meshheading:12062363-Cation Transport Proteins, pubmed-meshheading:12062363-Cells, Cultured, pubmed-meshheading:12062363-DNA-Binding Proteins, pubmed-meshheading:12062363-Ether-A-Go-Go Potassium Channels, pubmed-meshheading:12062363-Female, pubmed-meshheading:12062363-Humans, pubmed-meshheading:12062363-Long QT Syndrome, pubmed-meshheading:12062363-Mutagenesis, Site-Directed, pubmed-meshheading:12062363-Mutation, Missense, pubmed-meshheading:12062363-Oocytes, pubmed-meshheading:12062363-Patch-Clamp Techniques, pubmed-meshheading:12062363-Potassium Channels, pubmed-meshheading:12062363-Potassium Channels, Voltage-Gated, pubmed-meshheading:12062363-Syncope, pubmed-meshheading:12062363-Trans-Activators, pubmed-meshheading:12062363-Transcription, Genetic, pubmed-meshheading:12062363-Xenopus
pubmed:year
2002
pubmed:articleTitle
Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.
pubmed:affiliation
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University 13-1, Takara-machi, Ishikawa 920-8640, Japan. kenshi@im2.m.kanazawa-u.ac.jp
pubmed:publicationType
Journal Article, Case Reports