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The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

Frontotemporal dementia (FTD) and Alzheimer's disease (AD) are two frequent causes of dementia that share both clinical and neuropathological features. Common to both disorders are the neurofibrillary tangles consisting of aggregations of hyperphosphorylated tau protein. Recently, a number of different pathogenic mutations in the tau gene have been identified in families with FTD and parkinsonism

SMIM1 variants rs1175550 and rs143702418 independently modulate Vel blood group antigen expression

The Vel blood group antigen is expressed on the red blood cells of most individuals. Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-negative phenotype. Still, Vel-positive individuals show great variability in Vel antigen expression, creating a risk for Vel blood typing errors and transfusion reactions. We fine-mapped the regulatory region located

Frequent low-level mutations of Protein Kinase D2 in angiolipoma

Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domai

The time of data – conditions for digital knowledge production in big science

Increasingly the material research deals with is cast as data. This is an ambiguous concept, which describes the matter of research in all stages of the research process. From having been seen as a stepping-stone on the way to producing the scientific results, increasingly data is itself positioned as the result. At the same time demands for data preservation and open data are often motivated with

“And how old are you?”: Age reference as an interpretative device in radio counselling

Aim of study: Negotiations about problem definitions are a crucial part of psychotherapeutic and counselling work. In a conversation with a psychotherapist or a counsellor, the client's initial description of his or her trouble is transformed into an expert-informed problem formulation. This study aims to explicate how reasoning about troubles and life difficulties in a dialogue with a psychothera

Will I fit in and do well? The importance of social belongingness and self-efficacy for explaining gender differences in interest in STEM- and HEED-majors.

Throughout the world, the labor market is clearly gender segregated. More research is needed to explain women's lower interest in STEM (Science, Technology, Engineering and Mathematics) majors and particularly to explain men's lower interest in HEED (Health care, Elementary Education, and the Domestic spheres) majors. We tested self-efficacy (competence beliefs) and social belongingness expectatio

Estimation of the Relative Contribution of Postprandial Glucose Exposure to Average Total Glucose Exposure in Subjects with Type 2 Diabetes

We hypothesized that the relative contribution of fasting plasma glucose (FPG) versus postprandial plasma glucose (PPG) to glycated haemoglobin (HbA1c) could be calculated using an algorithm developed by the A1c-Derived Average Glucose (ADAG) study group to make HbA1c values more clinically relevant to patients. The algorithm estimates average glucose (eAG) exposure, which can be used to calculate

The Relationship between Copyright and Patent Protection in European Union Law

The purpose of this book chapter is to investigate to what extent technical function can be protected under European Union (EU) copyright law. Technical function has been explicitly excluded under other regimes of protection in the Union, for example, trademark and design protection law, to avoid overlap (also known as cumulation) between these regimes and patent law. No such statutory provisions

Commenting, Sharing and Tweeting News : Measuring Online News Participation

Social plugins for sharing news through Facebook and Twitter have become increasingly salient features on news sites. Together with the user comment feature, social plugins are the most common way for users to contribute. The wide use of multiple features has opened new areas to comprehensively study users’ participatory practices. However, how do these opportunities to participate vary between th

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index,

What is essential? – a pilot survey on views about the requirements metamodel of reqT.org

[Context & motivation] This research preview paper presents ongoing work on the metamodel of a free software requirements modeling tool called reqT that is developed in an educational context. The work aims to make an initial validation of a survey instrument that elicits views on the metamodel of the reqT tool, which aims to engage computer science students in Requirements Engineering (RE) th

Developmental programming : State-of-the-science and future directions: Summary from a Pennington Biomedical symposium

OBJECTIVE: On December 8-9, 2014, the Pennington Biomedical Research Center convened a scientific symposium to review the state-of-the-science and future directions for the study of developmental programming of obesity and chronic disease. The objectives of the symposium were to discuss: (i) past and current scientific advances in animal models, population-based cohort studies, and human clinical

Hydraulic testing during drilling: application of the flowing fluid electrical conductivity (FFEC) logging method to drilling of a deep borehole

Drilling of a deep borehole does not normally allow for hydrologic testing during the drilling period. It is only done when drilling experiences a large loss (or high return) of drilling fluid due to penetration of a large-transmissivity zone. The paper proposes the possibility of conducting flowing fluid electrical conductivity (FFEC) logging during the drilling period, with negligible impact on

Old is gold? The effects of employee age on innovation and the moderating effects of employment turnover

There is consistent evidence in the literature that an average employee's age is negatively related to firm-level innovativeness. This observation has been explained by older employees working with outdated technological knowledge and being characterized by reduced cognitive flexibility. We argue that firms can mitigate this effect through employee turnover. In particular, turnover of R&D work

Flexible qualification – a key to labour law?

This article argues that flexible knowledge (and thus continuous education) has the potential to out-date employment protection versus new forms of works as the touchstone oflabour law discourse in the Knowledge Society. Hitherto labour law discourse has usually focused on labour market segmentation in terms of a core group of permanently employed workers and more peripheral groups of workers in a

Technology shifts and reallocation of labour: On the role of leading industries

In our paper we address a gap in the literature, identified by Silverberg (2007), who claims that we miss an objective criteria for identifying leading sectors associated with technology-induced structural change and measuring their effects on functioning of the economy. In particular, we analyse the role of leading industries in labour reallocation across regions as a mechanism of smoothing regio