Journal article - Institute for Biomedicine
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Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKN gene.
(2019)Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous ... -
Mendelian randomisation analyses and pulmonary factors mediate the effect of height on coronary artery disease
(2019)There is evidence that lower height is associated with a higher risk of coronary artery disease (CAD) and increased risk of type 2 diabetes (T2D). It is not clear though whether these associations are causal, direct or ... -
Near-neighbor interactions in the NS3-4A protease of HCV impact replicative fitness of drug-resistant viral variants
(2019)A variety of amino acid substitutions in the NS3-4A protease of the hepatitis C virus lead to protease inhibitor (PI) resistance. Many of these significantly impair the replication fitness of the resistant variants in a ... -
Metabolic Signature of Dietary Iron Overload in a Mouse Model
(2018)Iron is an essential co-factor for several metabolic processes, including the Krebs cycle and mitochondrial oxidative phosphorylation. Therefore, maintaining an appropriate iron balance is essential to ensure sufficient ... -
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 ... -
ensembldb: an R package to create and use Ensembl-based annotation resources.
(2019)Bioinformatics research frequently involves handling gene-centric data such as exons, transcripts, proteins, and their positions relative to a reference coordinate system. The ensembldb Bioconductor package retrieves and ... -
Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research
(2019)Biobanks have evolved, and their governance procedures have undergone important transformations. Our paper examines this issue by focusing on the perspective of the professionals working in management or scientific roles ... -
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly
(2019)PURPOSE: Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early ... -
Subchronic Exposure to Titanium Dioxide Nanoparticles Modifies Cardiac Structure and Performance in Spontaneously Hypertensive Rats
(2019)BACKGROUND: Non-communicable diseases, intended as the results of a combination of inherited, environmental and biological factors, kill 40 million people each year, equivalent to roughly 70% of all premature deaths ... -
Modeling Parkinson's disease in midbrain-like organoids
(2019)Modeling Parkinson's disease (PD) using advanced experimental in vitro models is a powerful tool to study disease mechanisms and to elucidate unexplored aspects of this neurodegenerative disorder. Here, we demonstrate that ... -
Protection of Personal Information Act No. 4 of 2013: Implications for biobanks
(2019)The Protection of Personal Information Act (POPIA) No. 4 of 2013 is the first comprehensive data-protection regulation to be passed in South Africa (SA). Its objectives include giving effect to the constitutional right to ... -
The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks.
(2019)The General Data Protection Regulation (GDPR) came into force in May 2018. The aspiration of providing for a high level of protection to individuals' personal data risked placing considerable constraints on scientific ... -
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 ... -
The Histone Deacetylase Inhibitor Suberoylanilide Hydroxamic Acid (SAHA) Restores Cardiomyocyte Contractility in a Rat Model of Early Diabetes
(2019)In early diabetes, hyperglycemia and the associated metabolic dysregulation promote early changes in the functional properties of cardiomyocytes, progressively leading to the appearance of the diabetic cardiomyopathy ... -
emeraLD: rapid linkage disequilibrium estimation with massive datasets
(2018)Estimating linkage disequilibrium (LD) is essential for a wide range of summary statistics-based association methods for genome-wide association studies. Large genetic datasets, e.g. the TOPMed WGS project and UK Biobank, ... -
Genome-wide association meta-analysis of PR interval identifies 50 novel loci associated with atrial and atrioventricular electrical activity
(2018)Electrocardiographic PR interval measures atrio-ventricular depolarization and conduction, and abnormal PR interval is a risk factor for atrial fibrillation and heart block. Our genome-wide association study of over 92,000 ... -
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 ...
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