|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0599896,
umls-concept:C1325742,
umls-concept:C1457869,
umls-concept:C1512032,
umls-concept:C1514562,
umls-concept:C1707455,
umls-concept:C1836408,
umls-concept:C1855585,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
|
|
pubmed:issue |
8
|
|
pubmed:dateCreated |
2009-8-17
|
|
pubmed:abstractText |
Mutations in the pore domain of the human ether-a-go-go-related gene (hERG) potassium channel are associated with higher risk of sudden death. However, in many kindreds clinical presentation is variable, making it hard to predict risk. We hypothesized that in vitro phenotyping of the intrinsic severity of individual mutations can assist with risk stratification.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1540-8167
|
|
pubmed:author |
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
20
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
923-30
|
|
pubmed:meshHeading |
pubmed-meshheading:19490267-Adolescent,
pubmed-meshheading:19490267-Adult,
pubmed-meshheading:19490267-Amino Acid Sequence,
pubmed-meshheading:19490267-Animals,
pubmed-meshheading:19490267-CHO Cells,
pubmed-meshheading:19490267-Cell Line,
pubmed-meshheading:19490267-Child,
pubmed-meshheading:19490267-Cricetinae,
pubmed-meshheading:19490267-Cricetulus,
pubmed-meshheading:19490267-Ether-A-Go-Go Potassium Channels,
pubmed-meshheading:19490267-Female,
pubmed-meshheading:19490267-Gene Silencing,
pubmed-meshheading:19490267-Humans,
pubmed-meshheading:19490267-Male,
pubmed-meshheading:19490267-Middle Aged,
pubmed-meshheading:19490267-Molecular Sequence Data,
pubmed-meshheading:19490267-Mutation,
pubmed-meshheading:19490267-Pedigree,
pubmed-meshheading:19490267-Phenotype,
pubmed-meshheading:19490267-Protein Structure, Tertiary,
pubmed-meshheading:19490267-Protein Transport,
pubmed-meshheading:19490267-Severity of Illness Index,
pubmed-meshheading:19490267-Young Adult
|
|
pubmed:year |
2009
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|
pubmed:articleTitle |
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
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|
pubmed:affiliation |
Victor Chang Cardiac Research Institute, Sydney, Australia.
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|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
