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Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three members (SHANK1, SHANK2, and SHANK3), which encode scaffolding proteins required for the proper format
Neutralizing antibodies (inhibitors) toward factor VIII form a severe complication in nonsevere hemophilia A, profoundly aggravating the bleeding pattern. Identification of high-risk patients is hampered by lack of data that take exposure days to therapeutic factor VIII concentrates into account. In the INSIGHT study, we analyzed the association between F8 mutation and inhibitor development in pat
In this study, different flavin adenine dinucleotide (FAD)-dependent glucose dehydrogenases (FADGDHs) were characterized electrochemically after "wiring" them with an osmium redox polymer [Os(4,4'-dimethyl-2,2'-bipyridine)(2)(PVI)(10)Cl](+) on graphite electrodes. One tested FADGDH was that recently discovered in Glomerella cingulata (GcGDH), another was the recombinant form expressed in Pichia pa
The purpose of this study was to investigate whether the gut mucosa is a reservoir for enterovirus persistence in patients with type 1 diabetes. Small intestine biopsy samples from 25 individuals at different stages of type 1 diabetes, 21 control individuals and 27 individuals with coeliac disease were analysed for the presence of enterovirus RNA by using both radioactive in-situ hybridisation and
The roof dual bound for quadratic unconstrained binary optimization is the basis for several methods for efficiently computing the solution to many hard combinatorial problems. It works by constructing the tightest possible lower-bounding submodular function, and instead of minimizing the original objective function, the relaxation is minimized. However, for higher-order problems the technique has
This report covers the project period from 1.4.2003 to 31.08.2005. Project organisation, administration including the accounts, and the work carried out are reported. Besides, suggestions for copyright are put forward together with plans for dissemination activities and need for further research. The NAME was developed by the project group, consisting of all partners who have all contributed in an
The transport sector is facing serious challenges in meeting long-term sustainability criteria. Radical changes in the design of vehicles to attain competitive vehicles with substantially better environmental performance will probably constitute an important part in a future sustainable transport sector. The aim of the study described in this thesis is to assess the long-term options currently und
Popular Abstract in Swedish Bildning, bearbetning och upplagring av cathepsin G, proteinas 3 och azurocidin - närbesläktade bakteriedödande proteiner i vita blodkroppar Människans kropp utsätts dagligen för fientliga attacker av olika sorters mikroorganismer, tillhörande bakterie-, virus- eller svampsläktet. Så länge vi är friska och vårt immunförsvar fungerar, kan vi som tur är framgångsrikt föThe neutrophil granulocyte contains a number of multifunctional proteins stored in different subsets of granules. The azurophil granules, synthesized early during differentiation, harbour leukocyte elastase, cathepsin G, proteinase 3, and azurocidin; the members of the serprocidin family. In order to study the biosynthesis, processing, and intracellular sorting of the proteins, human cDNA encoding
The present study of spectra of twelve metal-rich cool dwarf stars, carefully selected in order to cover a range of temperatures ( K), is a follow up on Feltzing & Gustafsson (1998) with the aim to understand the apparent over-ionization and anomalous elemental abundances found by them for the K dwarf stars in their sample. Our method of analysis employs synthetic spectra of the full spectrum
Popular Abstract in Swedish Vatten- och läskflaskor av polyetylentereftalat, PET, kan både återanvändas (återfyllbara flaskor) och/eller återvinnas. Vid återvinning kan materialet användas för tillverkning av nya flaskor, sk closed-loop recycling. I både återfyllbara flaskor och flaskor som innehåller återvunnet material kan det förekomma ämnen som tidigare trängt in i plasten. Dessa kan antingen The reuse and closed-loop recycling of food packaging was studied in order to assess consumer safety and the sensory quality (e.g. taste and smell) of packaged food. Polyethylene terephthalate (PET) beverage bottles that were refillable or that contained recycled material, either in direct contact or with a functional barrier protecting the food, were investigated with focus on odorous compounds f
I will start out with an overview of common assumptions on the impact of free trade on the environment – assumptions which, very much like the first part of Lamy’s statement, are all-encompassing and deterministic. From there, I will narrow down the scope of examination to specific and immediate hardware-to-hardware impacts: akin to the second part of the above statement, the emphasis shall be put
1. Self-medication is an ability to consume or otherwise contact biologically active organic compounds specifically for the purpose of helping to clear a (parasitic) infection or reduce its symptoms. Consumption of these compounds may either take place before the infection is contracted (prophylactic consumption) or after the infection is contracted (therapeutic consumption). 2. An important insig
Sorption filters based on granular activated carbon, bone meal and iron fines were tested for their efficiency of removing metals from landfill leachate. Removal of Al, As, Ca, Cd, Co, Cr, Cu, Fe, Hg, Mg, Mn, Mo, Ni, Pb, Sr and Zn were studied in a laboratory scale setup. Activated carbon removed more than 90% of Co, Cr, Cu, Fe, Mn and Ni. Ca, Pb, Sr and Zn were removed but less efficiently. Bone
Circadian clocks are biological timekeepers that allow living cells to time their activity in anticipation of predictable daily changes in light and other environmental factors. The complexity of the circadian clock in higher plants makes it difficult to understand the role of individual genes or molecular interactions, and mathematical modelling has been useful in guiding clock research in model
Ecophysiological research aiming at explaining the causes and consequences of variation in individual condition, health state, and allostasis is traditionally performed on captive animals under controlled laboratory conditions. The question about how captivity per se affects studied parameters is therefore of central importance for generalizing the information gained from such studies. We addresse
Abstract Objectives. The Swedish Web-system for Enhancement and Development of Evidence-based care in Heart disease Evaluated According to Recommended Therapies (SWEDEHEART) collects data to support the improvement of care for heart disease. Design. SWEDEHEART collects on-line data from consecutive patients treated at any coronary care unit n = (74), followed for secondary prevention, undergoing a
Surfactants with the cationic functionality based on an amino acid structure have been used to prepare novel biocompatible devices for the controlled encapsulation and release of DNA. We report here the formation of DNA gel particles mixing DNA (either single- (ssDNA) or double-stranded (dsDNA)) with two different single-chain amino acid-based surfactants: arginine-N-lauroyl amide dihydrochloride
Epiphytic dwarf males on the females present a possible solution to the problem of short fertilization distances in mosses. However, leptokurtic spore dispersal makes dwarf males likely to be closely related to their host shoot, with an accompanying risk of inbreeding. The capacity of a female to harbour a high number of different dwarf males suggests that there may be mechanisms in place that cou
The adsorption of amino acids onto mineral surfaces plays an important role in a wide range of areas, e.g., low-temperature aqueous geochemistry, bone formation and protein-bone interactions. In this work, the adsorption of three alpha aminoacids (sarcosine, MIDA and EDDA) onto goethite (alpha-FeOOH) was studied as a function of pH and background electrolyte concentration at 25.0 degrees C, and th
