Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvemen

Water-insoluble films of oppositely charged polyionsurfactant ion complex salts (CS) are readily cast on solid surfaces from ethanolic solutions. The methodology introduces new possibilities to study and utilize more or less hydrated CS. Direct SAXS measurements show that the surface films are water-responsive and change their liquid crystalline structure in response to changes in the water activi

Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most

Aim: Regression testing practices in industry have to be better understood, both for the industry itself and for the research community. Method: We conducted a qualitative industry survey by i) running a focus group meeting with 15 industry participants and ii) validating the outcome in an on line questionnaire with 32 respondents. Results: Regression testing needs and practices vary greatly betwe

We aimed to investigate the causal effect of circulating uric acid concentrations on type 2 diabetes risk. A Mendelian randomization study was performed using a genetic score with 24 uric acid associated loci. We used data of the EPIC-InterAct case-cohort study, comprising 24,265 individuals of European ancestry from eight European countries. During a mean (SD) follow-up of 10 (4) years, 10,576 ve

We present an update of a search for supersymmetry in final states containing jets, missing transverse momentum, and one isolated electron or muon, using 1.04 fb(-1) of proton-proton collision data at root s =7 TeV recorded by the ATLAS experiment at the LHC in the first half of 2011. The analysis is carried out in four distinct signal regions with either three or four jets and variations on the (

Objective: The aims of this study were to obtain cross-sectional data on capillaroscopy in an international multi-center cohort of Systemic Sclerosis (SSc) and to investigate the frequency of the capillaroscopic patterns and their disease-phenotype associations. Methods: Data collected between June 2004 and October 2011 in the EULAR Scleroderma Trials and Research (EUSTAR) registry were examined.

Magnetotactic bacteria (MTB) are known to biosynthesise single-domain magnetite (Fe3O4) for geomagnetic navigation and their relict magnetosomes (called magnetofossils) can control the magnetic properties of lake and marine sediments. Magnetotactic bacteria also produce greigite (Fe3S4) magnetosomes but, compared to those made of magnetite, relatively little is known about the sedimentary environm

Sexual selection hypotheses stipulate that the major histocompatibility complex genes (MHC) constitute a key molecular underpinning for mate choice in vertebrates. The last four decades saw growing empirical literature on the role of MHC diversity and dissimilarity in mate choice for a wide range of vertebrate animals, but with mixed support for its significance in natural populations. Using forma

Non-saturated ion diffusion properties of cementitious materials were evaluated in an experimental study. To assess these properties, resistivity measurements have been performed on mortars with different binders (ordinary Portland cement – OPC, OPC with 5% silica fume, 40% slag and 70% slag, respectively) and different water-to-binder ratios (w/b, 0.38 and 0.53). Specimens have been conditioned t

Human leukocyte antigen class I (HLA-I) presents antigenic peptides to cytotoxic CD8+ T cells (CTLs). This is a pivotal step in the generation of CTL responses. Both the quantity and quality of peptide-HLA-I (pHLA-I) complexes are crucial for CTL responses, but the level of HLA-I expression per se is also directly involved in dictating NK-cell responses. Antigen processing machinery (APM) proteins

Today the concept of globality is widely used to describe a condition characterized by the presence a single sociopolitical space on a planetary scale. Yet international relations theory has been either unwilling or unable to understand the global realm in sui generis terms. This paper argues that if we want to make coherent sense of the global realm and its relationship to the international syste

The determinants and consequences of the naturalization of immigrants is a hot topic in the political debate in Europe. This article compares the effect of naturalization on the income attainment of immigrants in two Scandinavian countries, Denmark and Sweden, using longitudinal register data from 1986 and onward. Sweden is characterized by low obstacles to naturalization, and existing studies pro

Stemflow of xerophytic shrubs represents a significant component of water replenishment to the soil-root system influencing water utilization of plant roots at the stand scale, especially in water scarce desert ecosystems. In this study, stemflow of Caragana korshinskii was quantified by an aluminum foil collar collection method on re-vegetated sand dunes of the Shapotou restored desert ecosystem

Although nanowires are widely used in biological applications, especially as cell-manipulation tools, the effect of nanowires on living cells has not been fully investigated. Here, we examined the full gene expression of mouse cortical stem cells cultured on vertical nanowire substrates using RNA microarrays. Genes involved in cell adhesion, cell morphology regulation and cell metabolism were up r

Magnetic compass orientation in a night-migratory songbird requires that Cluster N, a cluster of forebrain regions, is functional. Cluster N, which receives input from the eyes via the thalamofugal pathway, shows high neuronal activity in night-migrants performing magnetic compass-guided behaviour at night, whereas no activation is observed during the day, and covering up the birds' eyes strongly

Objectives To investigate, using a Dutch model, whether and under what variables framed for other European countries screening for human papillomavirus (HPV) is preferred over cytology screening for cervical cancer, and to calculate the preferred number of examinations over a woman's lifetime. Design Cost effectiveness analysis based on a Dutch simulation model. Base case analyses investigated the

In the past two decades, centres of excellence (CoE) and other ‘research excellence initiatives’ likely to increase the cumulative advantages and stratification of science, have been implemented in many countries. Based on empirical studies of CoE in four Nordic countries, this paper examines how the resources provided by CoE schemes (generous long-term funding, prestige and visibility) add to the

We calculated a simple indicator of food availability using data from 93 sites in 17 countries across contrasted agroecologies in sub-Saharan Africa (>13,000 farm households) and analyzed the drivers of variations in food availability. Crop production was the major source of energy, contributing 60% of food availability. The off-farm income contribution to food availability ranged from 12% for hou