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Reference panels from the 1000 Genomes (1000G) Project Consortium provide near complete coverage of common and low-frequency genetic variation with minor allele frequency ≥0.5% across European ancestry populations. Within the European Network for Genetic and Genomic Epidemiology (ENGAGE) Consortium, we have undertaken the first large-scale meta-analysis of genome-wide association studies (GWAS), s
To predict how organisms cope with habitat fragmentation we must understand their dispersal biology, which can be notoriously difficult. We used a novel, multi-pronged approach to study dispersal strategies in the endangered saproxylic hermit beetle Osmoderma eremita, exploiting its pheromone system to intercept high numbers of dispersing individuals, which is not possible with other methods. Mark
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although approximately 10% of probands have at least one first- or second-degree relative with dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1, and CIZ1), whole-exome sequencing id
Bacterial colonization of the lower respiratory tract is frequently seen in COPD and may cause exacerbations leading to deterioration of the disease. An important part of the innate lung immunity is antimicrobial peptides, not least the cathelicidin hCAP-18/LL-37. Peptidylarginine deiminases (PADI) posttranslationally modifies proteins by converting cationic peptidylarginine residues to neutral pe
Nitrogen deposition and intentional forest fertilisation with nitrogen are known to affect the species composition of ectomycorrhizal fungal communities. To learn more about the mechanisms responsible for these effects, the relations between fungal growth, nitrogen uptake and nitrogen availability were studied in ectomycorrhizal fungi in axenic cultures and in symbiosis with pine seedlings. Effect
Fine-grained tills are a dominant feature of the drift geology of Sweden. Until recently their use in earthworks applications has been limited due to the plentiful supply of naturally occurring gravel and crushed rock, and their high sensitivity to moisture content change which often leads to the view that fine-grained tills are problem soils. Environmental and economic factors are, however, leadi
Myogenic activity, distention of the detrusor, and signals from the urothelium may initiate voiding. In the bladder, afferent nerves have been identified not only in the detrusor, but also suburothelially, where they. form a plexus that lies immediately beneath the epithelial lining. Extracellular adenosine triphosphate (ATP) has been found to mediate excitation of small-diameter sensory neurons v
Disturbance of ecosystems is a major factor in regional carbon budgets, and it is believed to be partly responsible for the large inter-annual variability of the terrestrial part of the carbon balance. Forest fires have so far been considered as the most important disturbance but also other forms of disturbance such as insect outbreaks or wind-throw might contribute significantly to the largely un
In areas where tectonics and weathering have hydrogeological significance, electrical methods can assist in mapping the subsurface. In this work, resistivity imaging was used to map fractures, faults and quartz veins emplaced in strongly weathered volcanic rocks. The aim was to map geological units related to the formation of groundwater systems in the Rio Artiguas basin, Nicaragua. Eight 2D resis
This paper introduces a research project with the aim to develop concepts and tools for architectural design, taking the ideas of "behaviour settings" as a starting point, to enable a more relevant holistic view in object oriented design of buildings. In this paper we introduce the concept of "architectural object" as a representation of a real "situation" involving people, behaviour, experience a
Popular Abstract in Swedish De flesta människor bibehåller en relativt konstant kroppsvikt genom livet trots att mängden mat och motion varierar från dag till dag. En konstant kroppsvikt betyder att energiintag (mat och dryck) och energiutgifter (värme och rörelse) i genomsnitt är lika stora, d.v.s. kroppens energibalans är i jämvikt. Övervikt är ett resultat av positiv energibalans, vilket innebä
Popular Abstract in Swedish I det moderna samhället är vi helt beroende av polymera material, från barndomen med blöjor och nappflaskor till ålderdomen med artificiella ögonlinser och höftleder. Dagens sjukvård skulle inte klara de höga hygieniska kraven om inte engångsartiklar såsom gummihandskar, påsar för blodtransfusion och katetrar fanns. I många applikationer är polymerernas ytegenskaperna m
Popular Abstract in Swedish Denna avhandling visar att jordgubbar innehåller ett allergen, proteinet Fra a 1, som är mycket likt det allergen som orsakar besvär vid björkpollen-allergi. Den som får allergiska besvär av jordgubbar, t.ex. att det kliar och blir irriterat i munhålan och svalget när man äter , har ofta en björkpollen-allergi sen tidigare. Motsvarande allergen finns också i en del andrStrawberry (Fragaria ananassa) is an economically important crop, and recognised as an important source of antioxidants and bioactive compounds with health promoting effects. Yet increased incidence of allergy puts a limit to the choice of food for an increasing percentage of the population. As part of this thesis a strawberry allergen termed Fra a 1 was identified, which is related to a major bi
Moths (Lepidoptera) are dependent on female produced pheromones, chemical signals, for attracting a mate. Pheromones are most commonly made up by saturated and/or unsaturated fatty acid derived alcohols, acetates, and/or aldehydes that are produced by a set of enzymes in the female pheromone gland. The enzymes involved are fatty acyl desaturases, pheromone gland fatty acyl reductases (pgFAR), β-ox
Popular Abstract in Swedish Populärvetenskaplig sammanfattning Öroninflammtionen är en av våra vanligaste åkommor, och den drabbar framför allt små barn. Av alla bakteriella infektioner är det den som oftast för oss till läkare. Vanligen resulterar läkarbesöket i en kur med bakteriedödande läkemedel som penicillin. P.g.a den idag höga konsumtionen av penicillin och liknande medel, är risken påtagAcute otitis media (AOM) is the most common illness diagnosed during early childhood. One of the major etiologic agents is Haemophilus influenzae. Apart from AOM, this organism can cause a broad range of infectious diseases such as meningitis, epiglottitis, arthritis, and pneumonia. Despite the importance of H.influenzae, the mechanisms by which this heterogenous group of bacteria mediates the inf
