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MOTIVATION: Depletion of loss-of-function (LoF) mutations may provide a rank of genic functional intolerance and consequently susceptibility to disease.RESULTS: Here we have studied LoF mutations in 60 706 unrelated individuals and show that the most intolerant quartile of ranked genes is enriched in rare and early onset diseases and explains 87% of de novo haploinsufficient OMIM mutations, 17% mo

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

In a prospective population-based study, all open hand, wrist, and forearm injuries that were treated during a 10-year period, at hospitals and emergency wards in three Norwegian cities with 225,000 inhabitants, were registered. Injury severity was graded using the abbreviated injury scale (AIS). For moderate injuries (AIS 2) overall incidence (95% CI) was 59 (56-62), incidence among males 92 (86-

Genetic factors influence susceptibility to multiple sclerosis but the responsible genes remain largely undefined, association with MHC class II alleles being the only established genetic feature of the disease. The Nordic countries have a high prevalence of multiple sclerosis, and to further explore the genetic background of the disease, we have carried out a genome-wide screen for linkage in 136

Purpose: The aim of this work is to examine the relationship between aspects of objective and perceived housing and aspects of healthy aging, defined as independence in daily activities and subjective wellbeing. Furthermore, this research examined the comparability of relationships between housing and healthy aging in the five European countries. Design and Methods: Data were drawn from the ENABLE