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Background Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype. Methods We sequenced the protein-coding regions of 18,666 genes in each of 3734 participants of European or African ancestry in the
A normal mineral metabolism is integral for skeletal development and preservation of bone integrity. Fibroblast growth factor 23 (FGF-23) is a bone-derived circulating factor that decreases serum concentrations of inorganic phosphorous (P-i) and 1,25-dihydroxyvitamin D-3 [1,25(OH)(2)D-3]. Increased FGF-23 expression is a direct or indirect culprit in several skeletal disorders; however, the relati
In birds the major histocompatibility complex (MHC) organization differs both among and within orders; chickens Gallus gallus of the order Galliformes have a simple arrangement, while many songbirds of the order Passeriformes have a more complex arrangement with larger numbers of MHC class I and II genes. Chicken MHC genes are found at two independent loci, classical MHC-B and non-classical MHC-Y,
Objective: To examine the relationship of knee malalignment with occurrence of incident and enlarging bone marrow lesions (BMLs) and regression of BMLs. Methods: Subjects from the Multicenter Osteoarthritis Study aged 50-79 years with or at high risk of knee osteoarthritis were studied. Full-limb radiographs were taken at baseline and hip-knee-ankle mechanical axis was measured. Baseline and 30-mo
This chapter provides a synthesis of three earlier published studies (Garmy et al. 2012a; Garmy et al. 2012b; Garmy et al. 2013) (survey I) as well as previously unpublished results from a survey conducted in 2013 among students aged 16 (survey II). Objective: The aim was to investigate the effects of sleep, television use and texting and computer habits on overweight, enjoyment of school and fee
The enzymatic degradation of wood polysaccharides such as cellulose and hemicellulose is an important process in nature. In addition, cellulases and hemicellulases can be used in industrial applications. Fuel ethanol can potentially be produced from wood by enzymatic hydrolysis of cellulose followed by yeast fermentation of the formed sugars. In this thesis, fungal glycoside hydrolases, cellulase
Protein structure and stability are inherent in the amino acid sequence and governed by non-covalent interactions. The cooperation between forces is, however, perplexing and not well understood. In order to elucidate and predict protein folding and stability, detailed studies of non-covalent interactions are required. Presented in this thesis are detailed studies on electrostatic interactions in
The enzymatic degradation of plant polysaccharides is a process of fundamental importance in nature which involves a wide range of enzymes. In this work, the structure and function of hemicellulose-degrading enzymes was investigated. The focus was on a beta-mannanase (TrMan5A) produced by the filamentous fungus Trichoderma reesei. This enzyme is composed of a catalytic module and a carbohydrate-bi
During the last decades of the 1900’s, businesses started to - in a broader sense than before - acknowledge the economic relevance of intangible components, such as emotional experiences, of products and services. This dissertation explores how the so-called lifestyle hotel segment reflects the socio-cultural currents that set the conditions for these changes in the Western economy. The aim of the
The world production of paper and paperboard products, which increased 3.3% per year since 1980, reached 243 million tonnes in 1991 and is expected to continue to grow by about 2.5% per year over the next decade. Consumption levels in 1990 ranged from 2.8 kg per capita in India to 313 kg per capita in the United States. The biggest producers of pulp are the United States, Canada and the Scandinavi
Popular Abstract in Swedish Tillväxtfaktorer kan förbättra cellöverlevnad och funktion i djurmodeller av Parkinson’s sjukdom. En av de vanligaste sjukdomarna i nervsystemet är Parkinson’s sjukdom. Den uppkommer genom att man gradvis förlorar en viss grupp av nervceller som använder signalsubstansen dopamin, vilket i sin tur leder till brist på dopamin i målområdet i hjärnan, striatum. Detta resulParkinson’s disease is characterized by progressive degeneration of the nigrostriatal dopamine system, which results in tremor, rigidity, akinesia and postural abnormalities. New therapeutic strategies are aimed at halting the neurodegenerative process or restoring the system by transplantation of fetal dopamine neurons. We have investigated the potential of the neurotrophic factors glial cell lin
Specific alterations (mutations, deletions, insertions) of virus genomes are crucial for the functional characterization of their regulatory elements and their expression products, as well as a prerequisite for the creation of attenuated viruses that could serve as vaccine candidates. Virus genome tailoring can be performed either by using traditionally cloned genomes as starting materials, follow
Recent investigations-of the interaction between DNA and alkyltrimethyl ammonium bromides of various chain lengths are reviewed. Several techniques have been used such as phase map determinations, fluorescence microscopy, and electron microscopy. Dissociation of the DNA-surfactant complexes, by the addition of anionic surfactant, has received special attention. Precipitation maps for DNA-cationic
Photosynthesis rates and photosynthesis-leaf nutrient relationships were analysed in nine tropical grass and sedge species growing in three different ecosystems: a rain-fed grassland, a seasonal floodplain, and a permanent swamp, located along a hydrological gradient in the Okavango Delta, Botswana. These investigations were conducted during the rainy season, at a time of the year when differences
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 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
To investigate if karyotypic features of secondary liver tumors may provide diagnostic information and if the cytogenetic patterns of primary and metastatic colorectal carcinomas (CRC) are different, 33 liver metastases were analyzed: 25 CRC, 4 small intestine carcinoids, 1 ovarian carcinoid, 1 lobular breast cancer, 1 head-and-neck squamous cell carcinoma, and 1 uveal malignant melanoma. Chromoso
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
