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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
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
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
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
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
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
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 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
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
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,
Today, due to the fast development of Internet Protocol TV (IPTV), which is the combination of IP technology and two-way broadband networks, the telecom industry is undergoing fundamental changes. Network operators and service providers around the world are making significant investments in order to deliver digital video content to their subscribers. Video puts very high demands on the network and
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
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
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
To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association sign
