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Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma.

Extraskeletal myxoid chondrosarcoma (EMC) is a soft-tissue neoplasm cytogenetically characterized by the translocations t(9;22)(q22;q11-12) or t(9;17)(q22;q11), generating EWS/CHN or RBP56/CHN fusion genes, respectively. In the present study, 18 EMCs were studied both cytogenetically and at the molecular level. Chromosomal aberrations were detected in 16 samples: 13 with involvement of 9q22 and 22

Smoking and the risk of gastric cancer in the European Prospective Investigation into Cancer and Nutrition (EPIC)

Smoking has recently been recognised as causally associated with the development of gastric cancer (GC). However, evidence on the effect by sex, duration and intensity of smoking, anatomic subsite and cessation of smoking is limited. Our objective was to assess the relation between tobacco use and GC incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC). We studied d

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2 : A cohort study

Background: Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency [PASLI]-R1), a recently described primary immunodeficiency, results from autosomal dominant mutations in PIK3R1, the gene encoding the regulatory subunit (p85α, p55α, and p50α) of class IA phosphoinositide 3-kinases. Objectives: We sought

A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes

Type 2 diabetes (T2D) is a complex metabolic disease associated with obesity, insulin resistance and hypoinsulinemia due to pancreatic β-cell dysfunction. Reduced mitochondrial function is thought to be central to β-cell dysfunction. Mitochondrial dysfunction and reduced insulin secretion are also observed in β-cells of humans with the most common human genetic disorder, Down syndrome (DS, Trisomy

A new direct, fast and quantitative enzyme-linked ligandsorbent assay for measurement of free protein S antigen

A new method to determine the concentration of the free protein S in plasma is described. It is an enzyme-linked ligandsorbent assay (ELSA) which utilises the protein S binding capacity of the natural ligand C4b-binding protein (C4BP) to capture the free protein S from plasma samples. The use of C4BP as ligand in the assay is possible due to the high affinity (Kd = 0.1 nM) of the interaction betwe

CK2 activity is required for the interaction of FGF14 with voltage-gated sodium channels and neuronal excitability

Recent data shows that fibroblast growth factor 14 (FGF14) binds to and controls the function of the voltage-gated sodium (Nav) channel with phenotypic outcomes on neuronal excitability. Mutations in the FGF14 gene in humans have been associated with brain disorders that are partially recapitulated in Fgf14(-/-) mice. Thus, signaling pathways that modulate the FGF14:Nav channel interaction may be

Greenhouse gas emissions from a constructed wetland in southern Sweden.

This paper investigates the greenhouse gas emissions from a Swedish wetland, constructed to decrease nutrient content in sewage treatment water. To evaluate the effect of the construction in terms of greenhouse gas emissions we carried out ecosystem-atmosphere flux measurements of CO2, CH4 and N2O using a closed chamber technique. To evaluate the importance of vascular plant species composition to

Spinal cord injury - scientific challenges for the unknown future.

The history of spinal cord injuries starts with the ancient Egyptian medical papyrus known as the Edwin Smith Surgical Papyrus. The papyrus written about 2500 B.C.by the physician and architect of the Sakkara pyramids Imhotep, describes "crushed vertebra in his neck" as well as symptoms of neurological deterioration. An ailment not to be treated was the massage to the patients at that time. This f

Differences in molecular evolution between switch (R5 to R5X4/X4-tropic) and non-switch (R5-tropic only) HIV-1 populations during infection.

The recent introduction of entry inhibitors in the clinic as components of antiretroviral treatment has heightened the interest in coreceptor use of human immunodeficiency virus type 1 (HIV-1). Viruses using CCR5 as coreceptor (R5 viruses) are generally present over the entire course of infection whereas viruses using the CXCR4 coreceptor (R5X4/X4 viruses) emerge in about 50% of infected individua

Stopover behaviour in migratory songbirds: timing, orientation and departures

Popular Abstract in Swedish Miljontals fåglar lämnar Sverige varje höst för att övervintra på sydligare breddgrader och återvänder nästkommande vår för att föda upp sina ungar på de enorma mängder insekter som finns här tack vare det tempererade klimatet. Småfåglar genomför sin flytt etappvis genom att flyga ett antal dagar eller nätter i sträck, beroende på om fågeln är en dag- eller nattsträckar

Improving Stress Tolerance in Industrial Saccharomyces cerevisiae Strains for Ethanol Production from Lignocellulosic Biomass

Popular Abstract in English Oil resources are finite; and political and economic factors affecting oil production,together with the environmental damage associated with the increased use of oil by a rapidly growing population, have underscored the need for developing cleaner technologies based on sustainable resources. In this context, any lignocellulosic biomass that is not used in the food chainThe present work was aimed at developing industrial S. cerevisiae strains with improved tolerance to two types of stressors encountered during the fermentation of lignocellulosic biomass that affect ethanol yield and productivity, namely hydrolysate-derived inhibitors and high temperature, and at understanding the response of yeast and mechanisms of adaptation to such stressors. In one part of the

Enzymatic metal-chelation by porphyrins

Popular Abstract in Swedish Vad har jag gjort de senaste åren? Och varför? Det är det många som har undrat. Så stundtals även jag. Vad jag skriver nedan syftar inte till att förklara detta, utan är bara ämnat som en kort introduktion. Jag har de senaste åren jobbat med gener och proteiner från både växter och bakterier. Både gener och proteiner är väldigt små saker, men även den minsta lilla sak This thesis deals with the structure and function of two different enzymes, ferrochelatase and magnesium chelatase, that catalyse similar reactions. When this work started, a three-dimensional model of ferrochelatase existed. Much was known about the enzyme, but some details remained unclear. The focus has been to establish where the metal and the porphyrin binds to the enzyme, and how they are pu

NICH: a preliminary theoretical study on Natural Interaction applied to Cultural Heritage contexts

Gesture-based interaction constitutes a new paradigm in human-machine interaction. The possibility to control a technical system with gestures on surfaces or in mid air makes it possible to design user interfaces that go beyond the WIMP paradigm (Windows Icons Menus and Pointers), the dominating interaction paradigm since the 1970's. After mainly having been of interest in the human-computer inter

Short-Term Spatial and Temporal Carbonate Chemistry Variability in Two Contrasting Seagrass Meadows : Implications for pH Buffering Capacities

It has been hypothesized that highly productive coastal ecosystems, such as seagrass meadows, could lead to the establishment of ocean acidification (OA) refugia, or areas of elevated pH and aragonite saturation state (Ωa) compared to source seawater. However, seagrass ecosystems experience extreme variability in carbonate chemistry across short temporal and small spatial scales, which could impac

Implementation of observed sky-view factor in a mesoscale model for sensitivity studies of the urban meteorology

The sky view factor (SVF) is an important radiometric parameter for assessing the canopy energy budget of urban areas. There are several methods to determine the SVF observationally. The most common is taking a photo with a digital camera equipped with a fish-eye lens and then converting ratio of sky area to canopy area into SVF. However, most urban canopy models use this variable as derived from

Primary and secondary effects of climate variability on net ecosystem carbon exchange in an evergreen Eucalyptus forest

To understand the dynamics of ecosystem carbon cycling more than 10 years of eddy covariance data, measured over an evergreen, temperate, wet sclerophyll forest, were analysed and related to climate drivers on time scales ranging from hours to years. On hourly timescales we find that incoming shortwave radiation is the major meteorological driver of net ecosystem carbon exchange (NEE). Light use e

Effect of spatial heterogeneity on the validation of remote sensing based GPP estimations

Satellite based remote sensing provides an efficient way to estimate carbon balance components over large spatial domains with acceptable temporal and spatial resolution. In the present study remote sensing based gross primary production (GPP) estimations were evaluated using data from a tall eddy-covariance flux tower, located over a heterogeneous agricultural landscape in Hungary. Four different

Diagnostic and model dependent uncertainty of simulated Tibetan permafrost area

We perform a land-surface model intercomparison to investigate how the simulation of permafrost area on the Tibetan Plateau (TP) varies among six modern stand-alone land-surface models (CLM4.5, CoLM, ISBA, JULES, LPJ-GUESS, UVic). We also examine the variability in simulated permafrost area and distribution introduced by five different methods of diagnosing permafrost (from modeled monthly ground