Browsing Journal article - Institute for Biomedicine by Title
Now showing items 212-231 of 422
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Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels
(2011)The genetic determinants of variation in iron status are actively sought, but remain incompletely understood. Meta-analysis of two genome-wide association (GWA) studies and replication in three independent cohorts was ... -
Identification of a set of endogenous reference genes for miRNA expression studies in Parkinson's disease blood samples
(2014)BACKGROUND: Research on microRNAs (miRNAs) is becoming an increasingly attractive field, as these small RNA molecules are involved in several physiological functions and diseases. To date, only few studies have assessed ... -
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders
(2013)Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci ... -
Identification of HNRNPK as regulator of hepatitis C virus particle production
(2015)Hepatitis C virus (HCV) is a major cause of chronic liver disease affecting around 130 million people worldwide. While great progress has been made to define the principle steps of the viral life cycle, detailed knowledge ... -
Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease
(2010)Treatment-related motor complications such as dyskinesias are a major problem in the long-term management of Parkinson's disease (PD). In sporadic PD, a relatively early onset of the disease is known to be associated with ... -
The Impact of CRISPR/Cas9 Technology on Cardiac Research: From Disease Modelling to Therapeutic Approaches
(2017)Genome-editing technology has emerged as a powerful method that enables the generation of genetically modified cells and organisms necessary to elucidate gene function and mechanisms of human diseases. The clustered regularly ... -
Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease
(2010)Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but ... -
Implications of ICU triage decisions on patient mortality: a cost-effectiveness analysis
(2011)INTRODUCTION: Intensive care is generally regarded as expensive, and as a result beds are limited. This has raised serious questions about rationing when there are insufficient beds for all those referred. However, the ... -
Importance of different types of prior knowledge in selecting genome-wide findings for follow-up
(2013)Biological plausibility and other prior information could help select genome-wide association (GWA) findings for further follow-up, but there is no consensus on which types of knowledge should be considered or how to weight ... -
Improving power for rare-variant tests by integrating external controls
(2017)Due to the drop in sequencing cost, the number of sequenced genomes is increasing rapidly. To improve power of rare-variant tests, these sequenced samples could be used as external control samples in addition to control ... -
Improving the accuracy of two-sample summary-data Mendelian randomization: moving beyond the NOME assumption
(2018)Background Two-sample summary-data Mendelian randomization (MR) incorporating multiple genetic variants within a meta-analysis framework is a popular technique for assessing causality in epidemiology. If all genetic ... -
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research
(2016)The increased international sharing of data in research consortia and the introduction of new technologies for sequencing challenge the informed consent (IC) process, adding complexities that require coordination between ... -
Improving the visualisation, interpretation and analysis of two-sample summary data Mendelian randomization via the radial plot and radial regression
(2018)Background: data furnishing a two-sample Mendelian randomization (MR) study are often visualized with the aid of a scatter plot, in which single-nucleotide polymorphism (SNP)-outcome associations are plotted against the ... -
Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies
(2018)The emergence of very large cohorts in genomic research has facilitated a focus on genotype-imputation strategies to power rare variant association. These strategies have benefited from improvements in imputation methods ... -
Inclusion of biological knowledge in a Bayesian shrinkage model for joint estimation of SNP effects
(2017)With the aim of improving detection of novel single-nucleotide polymorphisms (SNPs) in genetic association studies, we propose a method of including prior biological information in a Bayesian shrinkage model that jointly ... -
Increased Anxiety-Related Behavior, Impaired Cognitive Function and Cellular Alterations in the Brain of Cend1-deficient Mice
(2019)Cend1 is a neuronal-lineage specific modulator involved in coordination of cell cycle exit and differentiation of neuronal precursors. We have previously shown that Cend1−/− mice show altered cerebellar layering caused by ... -
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
(2015)Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and ... -
Influence of collection tubes during quantitative targeted metabolomics studies in human blood samples
(2018)BACKGROUND: Plasma and serum are the most widely used matrices in clinical studies. However, some variability in absolute concentrations of metabolites are likely to be observed in these collection tubes matrices. METHODS: We ... -
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study
(2006)BACKGROUND: The PARK2 gene at 6q26 encodes parkin, whose inactivation is implicated in an early-onset autosomal recessive form of Parkinson disease (PD). OBJECTIVE: To evaluate the influence of heterozygosity for parkin ...
