Browsing Journal article - Institute for Biomedicine by Title
Now showing items 243-262 of 422
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Jenti: an efficient tool for mining complex inbred genealogies
(2008)SUMMARY: An efficient tool for mining complex inbred genealogies that identify clusters of individuals sharing the same expected amount of relatedness is described. Additionally it allows for the reconstruction of ... -
A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila
(2013)Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that the length ... -
Ketoamide resistance and hepatitis C virus fitness in val55 variants of the NS3 serine protease
(2012)Drug-resistant viral variants are a major issue in the use of direct-acting antiviral agents in chronic hepatitis C. Ketoamides are potent inhibitors of the NS3 protease, with V55A identified as mutation associated with ... -
Lack of replication in polymorphisms reported to be associated with atrial fibrillation
(2011)BACKGROUND: Atrial fibrillation (AF) is the most common sustained arrhythmia and has a substantial heritable component. Numerous associations between single nucleotide polymorphisms (SNPs) and AF have been described, but ... -
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease
(2015)OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the ... -
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways
(2012)Through genome-wide association meta-analyses of up to 133,010 individuals of European ancestry without diabetes, including individuals newly genotyped using the Metabochip, we have increased the number of confirmed loci ... -
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function
(2017)BACKGROUND: Understanding the genetic architecture of cardiac structure and function may help to prevent and treat heart disease. This investigation sought to identify common genetic variations associated with inter-individual ... -
Large-scale replication and heterogeneity in Parkinson disease genetic loci
(2012)OBJECTIVE: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ... -
Legal issues in governing genetic biobanks: the Italian framework as a case study for the implications for citizen's health through public-private initiatives
(2017)This paper outlines some of the challenges faced by regulation of genetic biobanking, using case studies coming from the Italian legal system. The governance of genetic resources in the context of genetic biobanks in Italy ... -
Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms
(2014)Genome-wide association studies have revealed numerous risk loci associated with diverse diseases. However, identification of disease-causing variants within association loci remains a major challenge. Divergence in gene ... -
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
(2005)We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in ... -
The Lin28/let-7 axis regulates glucose metabolism
(2011)The let-7 tumor suppressor microRNAs are known for their regulation of oncogenes, while the RNA-binding proteins Lin28a/b promote malignancy by inhibiting let-7 biogenesis. We have uncovered unexpected roles for the ... -
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
(2006)Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients ... -
Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27
(2011)BACKGROUND: Thyroid hormones have important roles in growth, development and control of metabolism, and their dysregulation can lead to disease. OBJECTIVES: To identify genes contributing to hyperthyrotropinaemia. DESIGN, ... -
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene
(2010)As major risk-factors for diabetes and cardiovascular diseases, the genetic contribution to obesity-related traits has been of interest for decades. Recently, a limited number of common genetic variants, which have replicated ... -
Linkage disequilibrium patterns and tagSNP transferability among European populations
(2005)The pattern of linkage disequilibrium (LD) is critical for association studies, in which disease-causing variants are identified by allelic association with adjacent markers. The aim of this study is to compare the LD ... -
Lipidomics, Atrial Conduction, and Body Mass Index
(2019)BACKGROUND: Lipids are increasingly involved in cardiovascular risk prediction as potential proarrhythmic influencers. However, knowledge is limited about the specific mechanisms connecting lipid alterations with atrial ... -
Localising loci underlying complex trait variation using Regional Genomic Relationship Mapping
(2012)The limited proportion of complex trait variance identified in genome-wide association studies may reflect the limited power of single SNP analyses to detect either rare causative alleles or those of small effect. Motivated ... -
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
(2009)Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), ... -
Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk
(2012)It has recently been suggested that the low-frequency c.136-14_136-13insC variant in high-mobility group A1 (HMGA1) may strongly contribute to insulin resistance and type 2 diabetes risk. In our study, we attempted to ...