8 Result(s)
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Joseph M. Devaney
Biomedicine
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Article
Open AccessCharacterization of the ZBTB42 gene in humans and mice
A 12 kb haplotype upstream of the key signaling protein gene, AKT1, has been associated with insulin resistance and metabolic syndrome (Devaney et al. 2010). The region contains the first exon and promoter sequen...
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Article
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Heribert Schunkert and colleagues report a meta-analysis of 14 genome-wide association studies of coronary disease (CAD) followed by replication in additional cohorts. They confirm 10 previously associated loc...
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Open AccessAKT1 polymorphisms are associated with risk for metabolic syndrome
Converging lines of evidence suggest that AKT1 is a major mediator of the responses to insulin, insulin-like growth factor 1 (IGF1), and glucose. AKT1 also plays a key role in the regulation of both muscle cel...
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Functional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome
A small 12-kb haplotype upstream of the AKT1 gene has been found to be associated with insulin resistance phenotypes. We sought to define the functional consequences of the three component polymorphic loci (rs113...
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Article
Open AccessA polymorphism near IGF1 is associated with body composition and muscle function in women from the Health, Aging, and Body Composition Study
Previous studies have reported associations of polymorphisms in the IGF1 gene with phenotypes of body composition (BC). The purpose of this study was to identify phenotypes of BC and physical function that were a...
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Meta-analysis and imputation refines the association of 15q25 with smoking quantity
Jonathan Marchini and colleagues with the Ox-GSK consortium report a meta-analysis for smoking phenotypes from 20 studies including 41,150 individuals, confirming an association at the CHRNA5–CHRNA3 locus on 15q2...
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Article
Open AccessINSIG2 gene polymorphism is associated with increased subcutaneous fat in women and poor response to resistance training in men
A common SNP upstream of the INSIG2 gene, rs7566605 (g.-10,1025G>C, Chr2:118,552,255, NT_022135.15), was reported to be associated with obesity (Body Mass Index, [BMI]) in a genome-wide association scan using ...
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Article
Renewable Standard Reference Material for the Detection of TP53 Mutations
Background: Numerous DNA-based tests are currently in use or under development for the detection of mutations associated with disease. Most of the current methods use PCR amplification technologi...
