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New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

Background - Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An additional 100 variants yielded suggestive evidence of association. Methods and Results - Here, we

Organisational frameworks for straw-based energy systems in Ukraine and Western Europe

Ukraine (UA) has large biomass potentials, and faces broad needs for energy security enhancement, agricultural sector revitalisation and environmental improvement. Cross case study analysis is applied to nine straw-fired installations in UA within a conceptual framework developed by the authors. The analysis yields three distinct straw-based frameworks for organisation and action including ‘small

Tetrode Based Technology Demonstrator at 352 MHz, 400 kWp for ESS Spoke Linac

The European Spallation Source (ESS) will be the world's most powerful spallation neutron source when it comes in operation at the end of this decade. The ESS linac will accelerate 50mA of protons to 2 GeV in 2.86 ms long pulses at a repetition rate of 14 Hz on a tungsten target for neutron spallation. The linac contains 26 superconducting spoke cavities, which are being developed by IPN Orsay, Fr

På samma scen. Om samarbete mellan amatör- och yrkesteater. Exemplet Huskvarna.

On the same stage is a case study showing the co-operation between amateurs and professionals in a play called Bara tusen korta år (Just a Thousand Short Years) by Alf Henrikson (1905-1995). Performances were given in the summers of 1994 ? 1998 in Huskvarna. The amateurs were from Huskvarna while the professionals were employed by the regional theatre in Jönköping. When investigating this project

Structural and functional differences between L-type calcium channels: crucial issues for future selective targeting

Within the family of voltage-gated calcium channels (VGCCs), L-type channels (L-VGCCs) represent a well-established therapeutic target for calcium channel blockers, which are widely used to treat hypertension and myocardial ischemia. L-VGCCs outside the cardiovascular system also control key physiological processes such as neuronal plasticity, sensory cell function (e.g. in the inner ear and retin

Kingnites diamondi gen. et sp nov., an exceptionally large Silurian paulinitid (Annelida; Polychaeta) from shallow marine settings of Baltoscandia

The polychaete annelid Kingnites diamondi, a new paulinitid genus and species, is described from the Silurian of Baltoscandia. Its large maxillae differ morphologically from those of all other known paulinitids, particularly in being very elongate and having conspicuous myocoele openings and posterior portions of the first maxillae (MI). Albeit rare, this polychaete taxon is highly characteristic

RNA sequencing: current and prospective uses in metabolic research.

Previous global RNA analysis was restricted to known transcripts in species with a defined transcriptome. Next generation sequencing has transformed transcriptomics by making it possible to analyse expressed genes with an exon level resolution from any tissue in any species without any a priori knowledge of which genes that are being expressed, splice patterns or their nucleotide sequence. In addi

The diabetes susceptibility gene clec16a regulates mitophagy.

Clec16a has been identified as a disease susceptibility gene for type 1 diabetes, multiple sclerosis, and adrenal dysfunction, but its function is unknown. Here we report that Clec16a is a membrane-associated endosomal protein that interacts with E3 ubiquitin ligase Nrdp1. Loss of Clec16a leads to an increase in the Nrdp1 target Parkin, a master regulator of mitophagy. Islets from mice with pancre

Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: A genome-wide association study of 13,372 participants

BACKGROUND Genome-wide association studies have identified several genetic loci associated with variation in resting heart rate in European and Asian populations. No study has evaluated genetic variants associated with heart rate in African Americans. OBJECTIVE To identify novel genetic variants associated with resting heart rate in African Americans. METHODS Ten cohort studies participating in th

Performance of enhanced liver fibrosis plasma markers in asymptomatic individuals with ZZ α1-antitrypsin deficiency.

OBJECTIVES: Alpha1-antitrypsin deficiency (AATD) is a common genetic cause of chronic liver disease. According to retrospective studies, up to 25% of those with homozygous ZZ (Glu 342 to Lys) AATD suffer from liver cirrhosis and/or liver cancer in late adulthood. We hypothesized that the plasma markers for liver fibrosis, necrosis, and apoptosis may identify AATD individuals at higher risk for liv

Age- and Sex-Specific Causal Effects of Adiposity on Cardiovascular Risk Factors.

Observational studies have reported different effects of adiposity on cardiovascular risk factors across age and sex. Since cardiovascular risk factors are enriched in obese individuals, it has not been easy to dissect the effects of adiposity from those of other risk factors. We used a Mendelian randomization approach, applying a set of 32 genetic markers to estimate the causal effect of adiposit

Meta-analysis of gene-level tests for rare variant association.

The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level data. As the focus of genetic association studies shifts to rare variants, genes