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Variation Ontology for annotation of variation effects and mechanisms.

Ontology organizes and formally conceptualizes information in a knowledge domain with a controlled vocabulary having defined terms and relationships between them. Several ontologies have been used to annotate numerous databases in biology and medicine. Due to their unambiguous nature, ontological annotations facilitate systematic description and data organization, data integration and mining, patt

Knocking on heaven's door: The evaluation community goes to church

Ideas and concepts about evaluation travel around the globe. Studies of how evaluation models are disseminated, diffused and implemented are important. In this article, we examine an organization with a history of traditions and legitimacy and a successful audit of its own and how it responds to modern concepts of administration where evaluation plays an important role. Based on an analytical fram

Bertil Malmberg, first chair of phonetics in Sweden - peer evaluations

Following a royal act, a new academic discipline, Phonetics, was officially given birth in 1947. However, it was not until November 1950 that, at Lund University, Bertil Malmberg was appointed to the first Chair of Phonetics in Sweden. Four Scandinavian experts were chosen to evaluate Malmberg’s scientific competence. The peers produced four evaluations, which constitute the central corpus for th

Coherence as a heuristic

The impossibility results of Bovens and Hartmann (2003) and Olsson (2005) call into question the strength of the connection between coherence and truth. As part of the inquiry into this alleged link, I define a notion of degree of truth-conduciveness, relevant for measuring the usefulness of coherence measures as rules-of-thumb for assigning probabilities in situations of partial knowledge. I use

Temperature-Corrected Oxygen Detection Based on Multi-Mode Diode Laser Correlation Spectroscopy

Temperature-corrected oxygen measurements were performed by using multi-mode diode laser correlation spectroscopy at temperatures ranging between 300 and 473 K. The experiments simulate in situ monitoring of oxygen in coal-combustion exhaust gases at the tail of the flue. A linear relationship with a correlation coefficient of -0.999 was found between the evaluated concentration and the gas temper

Synthesis of amorphous Mg(BH4)(2) from MgB2 and H-2 at room temperature

Due to its high hydrogen content and its favourable overall thermodynamics magnesium tetrahydroborate has been considered interesting for hydrogen storage applications. In this work we show that unsolvated amorphous magnesium tetrahydroborate can be obtained by reactive ball milling of commercial MgB2 under 100 bar hydrogen atmosphere. The material was characterized by solid-state NMR which showed

Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy

Guanylate cyclase activating protein 1 (GCAP1) is a neuronal Ca2+ sensor (NCS) that regulates the activation of rod outer segment guanylate cyclases (ROS-GCs) in photoreceptors. In this study, we investigated the Ca2+-induced effects on the conformation and the thermal stability of four GCAP1 variants associated with hereditary human cone dystrophies. Ca2+ binding stabilized the conformation of al

High-Yield Uniform Synthesis and Microstructure-Determination of Rice-Shaped Silver Nanocrystals

High-yield uniform silver nanorices were synthesized by a facile polyol process without the introduction of shape-selected seeds. Nanorices exhibit two plasmon resonance peaks in the visible and near-infrared regions respectively due to their anisotropy. XRD patterns demonstrated the HCP phase coexists with the FCC phase in nanorices. The novel structure of nanorices was characterized by TEM study

The impact of indoor residual spraying on malaria incidence in East Shoa Zone, Ethiopia

Background: In Ethiopia, nearly 70% of the population resides in areas prone to malaria infection. The objective of this study is to evaluate the impact of indoor residual spraying (IRS) on the incidence of malaria in East Shoa Zone of Ethiopia. Methods: Data from the registers of malaria cases at Debrezeit Malaria Control Center in East Shoa Zone of Ethiopia were collected and analyzed. Records o

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated g

Catalytic dehydrogenation of cyclooctane and triethylamine using aliphatic iridium pincer complexes

The majority of the known pincer iridium based catalysts for dehydrogenation of alkanes has arene-based backbones. Here, the catalytic activity of aliphatic iridium pincer complexes, viz, the cyclohexane-based phosphine complex (PCyP)IrHCl (4) (PCyP = {cis-1,3-bis-[(di-tert-butylphosphino)methyl]cyclohexane}(-)) and the 2-methylpropane-based phosphinite complex (POCOP)IrHCl (5) (POCOP = 1,3-bis-(d

The Wabar impact craters, Saudi Arabia, revisited

The very young Wabar craters formed by impact of an iron meteorite and are known to the scientific community since 1933. We describe field observations made during a visit to the Wabar impact site, provide analytical data on the material collected, and combine these data with poorly known information discovered during the recovery of the largest meteorites. During our visit in March 2008, only two

Aspects of T cell development contributing to autoimmunity.

Popular Abstract in Swedish Autoimmuna sjukdomar, såsom typ 1 diabetes, uppstår till följd av en obalans i immunsystemet där immunceller ser kroppens egna vävnader som ett hot och angriper dem. Vid typ 1 diabetes är det de insulin-producerande β-cellerna i bukspottskörteln som förstörs, vilket leder till att man resten av livet får tillföra kroppen insulin genom injektioner. Anledningen till varföAutoimmunity, such as type 1 diabetes (T1D), arises as a result of tolerance breakdown against host tissues, i.e. the β-cells. Central tolerance is established during thymic T cell development and defects in key events during this process could contribute to the pathogenesis of autoimmune diseases. The work presented in this thesis was aiming at unravelling some of those aspects. We have investi