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Quality assessment of biobanked nucleic acid extracts for downstream molecular analysis

Sample quality is of major importance when conducting molecular analysis of nucleic acids, and factors such as degradation, presence of impurities, and enzymatic inhibitors may have a significant impact on the quality of data. Issues of quality assessment become more important as the increased use of biobanking means that whole blood samples are being stored for longer periods. A range of commerci

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred wi

Democratic Innovations in Deliberative Systems-The Case of the Estonian Citizens' Assembly Process

With the proliferation and application of democratic innovations around the world, the empirical study of deliberative and participatory processes has shifted from small-scale environments and experiments to real-lifepolitical processes on a large scale. With this shift, there is also a need to explore new theoretical approaches in order to understand current developments. Instead of analyzing dem

Imaging of prolonged BOLD response in the somatosensory cortex of the rat

Blood oxygenation level-dependent (BOLD) functional MRI is a widely employed methodology in experimental and clinical neuroscience, although its nature is not fully understood. To gain insights into BOLD mechanisms and take advantage of the new functional methods, it is of interest to investigate prolonged paradigms of activation suitable for long experimental protocols and to observe any long-ter

Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease

Inherited resistance to activated protein C (APC) is a frequent cause of familial thrombosis. It is associated with a factor V gene point mutation replacing arginine506 in the APC-cleavage site with a glutamine. Thrombotic events are rare during childhood even in patients with homozygous APC-resistance. We now wish to report on a case of severe venous thrombosis, in a 10-year-old boy. He was found

Structure and function of the GTP binding protein Gtr1 and its role in phosphate transport in Saccharomyces cerevisiae

The Pho84 high-affinity phosphate permease is the primary phosphate transporter in the yeast Saccharomyces cerevisiae under phosphate-limiting conditions. The soluble G protein, Gtr1, has previously been suggested to be involved in the derepressible Pho84 phosphate uptake function. This idea was based on a displayed deletion phenotype of Deltagtr1 similar to the Deltapho84 phenotype. As of yet, th

Structural modeling of dual-affinity purified Pho84 phosphate transporter

The phosphate transporter Pho84 of Saccharomyces cerevisiae is predicted to contain 12 transmembrane (TM) regions, divided into two partially duplicated parts of 6 TM segments. The three-dimensional (3D) organization of the Pho84 protein has not yet been determined. However, the 3D crystal structure of the Escherichia coli MFS glycerol-3-phosphate/phosphate antiporter, GlpT, and lactose transporte

Introduction : Heidegger and Theology after the Black Notebooks

This introductory chapter gives an overview of the intricate relation between Heidegger and theology. Firstly, it discusses Heidegger’s indebtedness to theology by revisiting the debate that was initiated by the publication of his early Freiburg lectures in the 1990s. Second, it sketches in broad strokes the reception history of Heidegger’s works within twentieth century theology. In the third and

Assessment of effective dose to an individual carrying materials useful for radiation dosimetry by optically stimulated luminescence

Optically stimulated luminescence (OSL) from ordinary household salt has proven high potential for very low dose retrospective dosimetry. In the present paper other common place materials are considered and their dosimetric OSL-properties compared with household salt. The potential for assessment of the effective dose to an individual carrying such materials is investigated.

Predicting participation in the population-based Swedish cardiopulmonary bio-image study (SCAPIS) using register data

Aims: To illustrate the importance of access to register data on determinants and predictors of study participation to assess validity of population-based studies. In the present investigation, we use data on sociodemographic conditions and disease history among individuals invited to the Swedish cardiopulmonary bio-image study (SCAPIS) in order to establish a model that predicts study participati

Hypoxia, pseudohypoxia and cellular differentiation

Tumor hypoxia correlates to aggressive disease, and while this is explained by a variety of factors, one clue to understand this phenomena was the finding that hypoxia induces a de-differentiated, stem cell-like phenotype in neuroblastoma and breast tumor cells. The hypoxia inducible transcription factors (HIFs) are regulated at the translational level by fluctuating oxygen concentrations, but eme

GARD – Genomic Allergen Rapid Detection : From Biomarker Discovery towards a State-of-the-art Testing Platform for Chemical Sensitizers

Chemical hypersensitivity reactions induced in the skin or in the respiratory tract are important health concerns and develops following repeated exposure to certain chemicals, termed sensitizers. To prevent such hazardous compounds from entering the consumer market, legal frameworks within EU require chemicals to be tested for their capacity to induce hypersensitivity. This type of testing has trChemical hypersensitivity reactions induced in the skin or in the respiratory tract are important health concerns and develops following repeated exposure to certain chemicals, termed sensitizers. To prevent such hazardous compounds from entering the consumer market, legal frameworks within EU require chemicals to be tested for their capacity to induce hypersensitivity. This type of testing has tr

Effect of the burner arrangement on Slab reheating characteristics in a reheating furnace

Slab reheating characteristics in the walking beam type reheating furnace were studied by using the finite volume method (FVM). A geometry model for simulating the gas circulation, heat transfer and slabs reheating process in a reheating furnace was developed by using ANSYS FLUENT software. Usually, slabs are heated in the furnace, and temperature values of the slabs reach above 1,500 K. After tha

Brain energy metabolism measured by (13)C magnetic resonance spectroscopy in vivo upon infusion of [3-(13)C]lactate

The brain uses lactate produced by glycolysis as an energy source. How lactate originated from the blood stream is used to fuel brain metabolism is not clear. The current study measures brain metabolic fluxes and estimates the amount of pyruvate that becomes labeled in glial and neuronal compartments upon infusion of [3-(13)C]lactate. For that, labeling incorporation into carbons of glutamate and

Caffeine consumption prevents diabetes-induced memory impairment and synaptotoxicity in the hippocampus of NONcZNO10/LTJ mice

Diabetic conditions are associated with modified brain function, namely with cognitive deficits, through largely undetermined processes. More than understanding the underlying mechanism, it is important to devise novel strategies to alleviate diabetes-induced cognitive deficits. Caffeine (a mixed antagonist of adenosine A(1) and A(2A) receptors) emerges as a promising candidate since caffeine cons