17 Result(s)
within
Joseph M. Devaney
English
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Article
Correction to: Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes
The original version of this article unfortunately contained a mistake.
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Article
Open AccessAre Immune Modulating Single Nucleotide Polymorphisms Associated with Necrotizing Enterocolitis?
Necrotizing enterocolitis (NEC) is a devastating gastrointestinal emergency. The purpose of this study is to determine if functional single nucleotide polymorphisms (SNPs) in immune-modulating genes pre-dispos...
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Article
Open AccessObesity-Related Genetic Variants and their Associations with Physical Activity
Meta-analysis of genome-wide association studies identified obesity-related genetic variants. Due to the pleiotropic effects of related phenotypes, we tested six of these obesity-related genetic variants for t...
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Article
A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation
Among brain tumors, the BRAF V600E mutation is frequently associated with pleomorphic xanthoastrocytomas (PXAs) and gangliogliomas (GGs). This oncogenic mutation is also detected in ~5 % o...
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Article
Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes
Diffuse intrinsic pontine glioma (DIPG) is a highly morbid form of pediatric brainstem glioma. Here, we present the first comprehensive protein, mRNA, and methylation profiles of fresh-frozen DIPG specimens (n = ...
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Article
Open AccessGenomics In Premature Infants: A Non-Invasive Strategy To Obtain High-Quality DNA
We used a cost-effective, non-invasive method to obtain high-quality DNA from buccal epithelial-cells (BEC) of premature infants for genomic analysis. DNAs from BEC were obtained from premature infants with ge...
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Article
The 1p13.3 LDL (C)-Associated Locus Shows Large Effect Sizes in Young Populations
Genome-wide association studies (GWASs) have identified polymorphic loci associated with coronary artery disease (CAD) risk factors (i.e. serum lipids) in adult populations (42–69 y). We hypothesized that younger...
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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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Article
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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Chapter
Statistical and Methodological Considerations in Exercise Genomics
The field of exercise genomics is growing at an amazing rate. New technologies such as genoty** chips used for genome-wide association studies (GWAS) have expanded the tools that can be used to uncover the e...
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Article
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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Article
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...
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Protocol
Purification Methods for Preparing Polymerase Chain Reaction Products for Capillary Electrophoresis Analysis
The analysis of polymerase chain reaction (PCR) products by capillary electrophoresis (CE) is often compromised by the presence of a high concentration of salt. Typical PCR reactions contain 50 mM of KCl and 1.5 ...
