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Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Low-frequency coding DNA sequence variants in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) lower plasma low-density lipoprotein cholesterol (LDL-C), protect against risk of coronary heart disease (CHD), and have prompted the development of a new class of therapeutics. It is uncertain whether the PCSK9 example represents a paradigm or an isolated exception. We used the "Exome Arra

A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations

A single-nucleotide polymorphism (SNP) at the IL12RB2 locus showed a suggestive association signal in a previously published genome-wide association study (GWAS) in systemic sclerosis (SSc). Aiming to reveal the possible implication of the IL12RB2 gene in SSc, we conducted a follow-up study of this locus in different Caucasian cohorts. We analyzed 10 GWAS-genotyped SNPs in the IL12RB2 region (2309

Baddeleyite geochronology and geochemistry of mafic cobbles from the Dwyka diamictite: New insights into the sub-Kalahari basement, South Africa

U-Pb baddeleyite geochronology and geochemistry of mafic cobbles from the similar to 300 Ma Dwyka diamictite on the western boundary of the Kalahari Basin provide new insights into the sub-Kalahari basement. Palaeo-ice flow directions indicate that the origin of the Dwyka diamictite deposits on the border between South Africa and Namibia is from beneath the Kalahari sands to the east or north-east

Enzymatic synthesis of N-alkanoyl-N-methylglucamide surfactants: solvent-free production and environmental assessment

A biocatalysis based method for the solvent-free production of N-alkanoyl-N-methylglucamide (MEGA) surfactants was developed and used as a case study for the evaluation of different environmental assessment tools, such as the freeware package EATOS (Environmental Assessment Tool for Organic Synthesis). In order to also consider energy usage and process facilities, e. g. heating, stirring and vacuu

Autism spectrum disorders and autisticlike traits: similar etiology in the extreme end and the normal variation.

CONTEXT: Autism spectrum disorders (ASDs) have been suggested to represent the extreme end of a normal distribution of autisticlike traits (ALTs). However, the evidence of this notion is inconclusive. OBJECTIVE: To study whether there are similar genetic and/or environmental etiologies behind ASDs and ALTs. DESIGN: A nationwide twin study. PARTICIPANTS: Consenting parents of all Swedish twins aged

Soil microbial recolonisation after a fire in a Mediterranean forest

The capacity of different microbial groups to recolonise soil after a fire event will be decisive in determining the microbial community after the fire. Microbial recovery after a wildfire that occurred in Sierra la Grana (Alicante province, southeast Spain) was tracked for 32 months after the fire. Colony forming units (CFUs) of different microbial groups, microbial biomass, soil respiration, bac

Systematic study of constitutive cyclooxygenase-2 expression: Role of NF-κB and NFAT transcriptional pathways.

Cyclooxygenase-2 (COX-2) is an inducible enzyme that drives inflammation and is the therapeutic target for widely used nonsteroidal antiinflammatory drugs (NSAIDs). However, COX-2 is also constitutively expressed, in the absence of overt inflammation, with a specific tissue distribution that includes the kidney, gastrointestinal tract, brain, and thymus. Constitutive COX-2 expression is therapeuti

High-temperature deformation in the basal shear zone of an eclogite-bearing fold nappe, Sveconorwegian orogen, Sweden

Ductile shear zones associated with emplacement of high-pressure nappes are key features to resolve exhumation mechanisms. The Eastern Segment of the Sveconorwegian orogen hosts an eclogite-bearing fold nappe, whose basal shear zone shows structures associated with emplacement of the eclogite-bearing nappe and decompression under high to intermediate pressure granulite and upper amphibolite fades

Temperamental influences on children's risk-taking in decision making: A dual process, multi-level analysis

Risk-taking can be either adaptive or maladaptive depending on the context, but maladaptive risk-taking sometimes has serious consequences. Understanding how self-control and other aspects of personality are related to risk-taking is important, as self-control can be improved through training. We examined how the regulative temperamental trait Activation control interacts with the reactive traits

On evaluating models in Computational Morphodynamics.

Recent advances in experimental plant biology have led to an increased potential to investigate plant development at a systems level. The emerging research field of Computational Morphodynamics has the aim to lead this development by combining dynamic spatial experimental data with computational models of molecular networks, growth, and mechanics in a multicellular context. The increased number of

Self-energy calculation of the hydrogen atom: Importance of the unbound states

We present the calculation of the self-energy of the isolated hydrogen atom within the GW approximation starting from the noninteracting Green's function constructed from the exact wave functions of the hydrogen atom. The error in the electron removal energy of the 1s state is found to be about 0.02 eV, which is much smaller than what one would expect. This small error is explained by the cancella

Dominant suppression of inflammation by glycan-hydrolyzed IgG [Retracted]

A unique anti-inflammatory property of IgG, independent of antigen specificity, is described. IgG with modification of the heavy-chain glycan on asparagine 297 by the streptococcal enzyme endo-beta-N-acetylglucosaminidase (EndoS) induced a dominant suppression of immune complex (IC)-mediated inflammation, such as arthritis, through destabilization of local ICs by fragment crystallizable-fragment c

Ingestion of gallium phosphide nanowires has no adverse effect on Drosophila tissue function.

Engineered nanoparticles have been under increasing scrutiny in recent years. High aspect ratio nanoparticles such as carbon nanotubes and nanowires have raised safety concerns due to their geometrical similarity to asbestos fibers. III-V epitaxial semiconductor nanowires are expected to be utilized in devices such as LEDs and solar cells and will thus be available to the public. In addition, clea

Holocene environmental change in Kamchatka: A synopsis

We present a synthesis of the results of a multiproxy, multisite, palaeoecological study of Holocene environmental change in Kamchatka, Far East Russia, details of which are presented elsewhere in the volume. We summarise the results of the analyses of pollen, diatom, chironomid, and testate amoebae assemblages, together with stable isotopes of oxygen and carbon, and sediment characteristics from

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

Recent genome-wide association studies (GWASs) have identified a locus on chromosome 1p13 strongly associated with both plasma low-density lipoprotein cholesterol (LDL-C) and myocardial infarction (MI) in humans. Here we show through a series of studies in human cohorts and human-derived hepatocytes that a common noncoding polymorphism at the 1p13 locus, rs12740374, creates a C/EBP (CCAAT/enhancer

PPARG gene Pro12Ala variant contributes to the development of non-alcoholic fatty liver in middle-aged and older Chinese population

Oxidative stress has been suggested to contribute to the development of non-alcoholic fatty liver disease (NAFLD). Peroxisome proliferator-activated receptor gamma (PPAR-gamma) heterozygous mice and Pro12Ala (C/G) polymorphism in PPARG exhibited increased resistance to oxidative stress. Smoking increases the production of reactive oxygen species, which could accelerates oxidative stress under over

Pre-diagnostic polyphenol intake and breast cancer survival: the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort.

The aim was to investigate the association between pre-diagnostic intakes of polyphenol classes (flavonoids, lignans, phenolic acids, stilbenes, and other polyphenols) in relation to breast cancer survival (all-cause and breast cancer-specific mortality). We used data from the European Prospective Investigation into Cancer and Nutrition cohort. Pre-diagnostic usual diet was assessed using dietary