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Popular Abstract in Swedish Den moderna genetiken tar sin början kring sekelskiftet 1900 då de mendelska lagarna återupptäcktes. Den tidiga utvecklingen skedde i många länder i nära anslutning till den praktiska växtförädlingen, så även i Sverige där det redan fanns en framgångsrik växtförädling genom Sveriges utsädesförenings verksamhet i Svalöf. Här introducerade botanisten Herman Nilsson-Ehle mIn the first part of the 20th century genetics developed into an important research field. The aim of this study is to follow and analyse the transformation of genetics from its origin within an agricultural context to an academic discipline in Sweden (ca. 1900-1960). Mendelism was introduced as a methodology in plant breeding at the plant breeding station in Svalöf during the first decade of the

An important question in human genetics is the extent to which genes causing monogenic forms of disease harbor common variants that may contribute to the more typical form of that disease. We aimed to comprehensively evaluate the extent to which common variation irk the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with

Abstract is not available.

1. The European Water Framework Directive requires the determination of ecological status in European fresh and saline waters. This is to be through the establishment of a typology of surface water bodies, the determination of reference (high status) conditions in each element (ecotype) of the typology and of lower grades of status (good, moderate, poor and bad) for each ecotype. It then requires

A search has been performed for photons originating in the decay of a neutral long-lived particle, exploiting the capabilities of the ATLAS electromagnetic calorimeter to make precise measurements of the flight direction of photons, as well as the calorimeter's excellent time resolution. The search has been made in the diphoton plus missing transverse energy final state, using the full data sample

An inclusive search for anomalous production of two prompt, isolated muons with the same electric charge is presented. The search is performed in a data sample corresponding to 1.6 fb(-1) of integrated luminosity collected in 2011 at root s = 7 TeV with the ATLAS detector at the LHC. Muon pairs are selected by requiring two isolated muons of the same electric charge with p(T) > 20 GeV and vertical

Group G streptococcus (GGS) is a human bacterial pathogen expressing surface proteins FOG and protein G (PG) which interact with several host defense systems, including the complement and contact systems. Selected reaction monitoring mass spectrometry, electron microscopy, and protein binding assays were used to follow the amounts of FOG and PG intracellularly and on the bacterial surface during d

Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits. Our objective here was to determine whether the h

Smoking is the main risk factor for COPD (chronic obstructive pulmonary disease) but genetic factors are of importance, since only a subset of smokers develops the disease. Sex differences have been suggested both in disease prevalence and response to environmental exposures. Furthermore, it has been shown that acquisition of 'addiction' to smoking is partly genetically mediated. Disease cases and

Music is used in many professional contexts that are not associated, in a traditional sense, with either music therapy or music education. How do professionals in different contexts use music, and how do they describe their thoughts about music in their professional work? Those are the main questions in our inquiry, focusing on narratives about music and health in professional relations. In this p

This paper summarises a comprehensive Monte Carlo simulation study for precision resonance energy scan measurements. Apart from the proof of principle for natural width and line shape measurements of very narrow resonances with PANDA, the achievable sensitivities are quantified for the concrete example of the charmonium-like X(3872) state discussed to be exotic, and for a larger parameter space of

Research on (verbo-) pictorial metaphors and other rhetorical figures is primarily focused on the genre of advertising, leaving other genres under-investigated. In this study, we focus on street art, a visually perceived cross-cultural medium used to address sociopolitical issues. This genre typically combines two interacting semiotic systems – language and depiction – and is thus a form of polyse

Trade-offs exist among the multiple ecosystem services (ES) generated by forests. Generally, wood production conflicts with the provisioning of public-good ES such as the storage of carbon, nutrient retention and conservation of biodiversity. Recognizing that forests generate both private- and public-good ES implies that forestry should be optimized to maximize the contribution of forests to socie

The Miaolingian is the new formal name for Cambrian Series 3 (≈ “Middle” Cambrian). The Global Stratotype Section and Point (GSSP) is defined in the Kaili Formation, Guizhou province, China, and is correlated by the First appearance Datum (FAD) of the trilobite Oryctocephalus indicus. However, this fossil has not been recorded from Baltoscandia. Here acritarchs may be used for identifying the base

Inland waters transport, transform and retain significant amounts of dissolved organic carbon (DOC) that may be biologically reactive (bioreactive) and thus potentially degraded into atmospheric CO2. Despite its global importance, relatively little is known about environmental controls on bioreactivity of DOC as it moves through river systems with varying water residence time (WRT). Here we determ

Microglial cells are brain-specific macrophages that swiftly react to disruptive events in the brain. Microglial activation leads to specific modifications, including proliferation, morphological changes, migration to the site of insult, and changes in gene expression profiles. A change in inflammatory status has been linked to many neurodegenerative diseases such as Parkinson's disease and Alzhei

BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, ATM, BARD1, RAD51C and RAD51D. To validate its predictions for these genes, we conducted a retrospective study including 2033 individuals counselled at clinical