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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

Sterile liver inflammation and fibrosis are associated with many liver disorders of different etiologies. Both type 1 and type 2 inflammatory responses have been reported to contribute to liver pathology. However, the mechanisms controlling the balance between these responses are largely unknown. Natural killer T (NKT) cells can be activated to rapidly secrete cytokines and chemokines associated w

African countries such as Nigeria are anticipated to be more susceptible to the impacts of climate change due to reliance on rainfed agriculture. In this regard, the impacts of climate change on crop water requirements (CWR), yields and crop water productivity (CWP) of soybean in the Ogun-Ona River Basin, Nigeria, were evaluated for the baseline period (1986–2015) and future period (2021–2099) und

Background: Symptom management in conjunction with proton beam therapy (PBT) from patient's perspective has not been explored. Such knowledge is essential to optimize the care in this relatively new treatment modality. Objective: The aim of this study was to explore the process of symptom management in patients with brain tumor receiving PBT. Methods: Participants were 22 patients with primary bra

Besides insulin-mediated transport of glucose into the cells, an important role is also played by the non-insulin-mediated transport. This latter process is called glucose effectiveness (acronym SG), which is estimated by modeling of glucose and insulin data after an intravenous glucose administration, and accounts for ≈70% of glucose disposal. This review summarizes studies on SG, mainly in human

Universal Design (UD) is a design approach that recognises and anticipates diversity as a fundamental human condition. UD is also frequently referred to in relation to the social dimension of sustainable development. Central to both UD and sustainability is the way “everyone,” as the target of UD and sustainability goals, is understood. The purpose of the study is to identify how UD’s “everyone” i

Type 2 diabetes, characterized by dysfunction of pancreatic β-cells and insulin resistance in peripheral organs, accounts for more than 90% of all diabetes. Despite current developments of new drugs and strategies to prevent/treat diabetes, there is no ideal therapy targeting all aspects of the disease. Restoration, however, of insulin-producing β-cells, as well as insulin-responsive cells, would

To-date the macroeconomic conditions-mortality literature on income-related inequality in mortality has relied on subgroup analysis, mainly using income as a stratification variable, but this nearly always causes selection bias yielding results that are hard to interpret. To solve this bad control problem, we apply a novel technique based on recentered influence function regression of overall inco

Analysis of coordinated Greater Scaup (Aythya marila) count data from the last 30 years showed a 38.1% decrease in wintering numbers in North-West Europe, from 309,000 during 1988–1991 to c.192,300 individuals during 2015–2018. Annual trends in wintering numbers differed throughout the range. Numbers decreased in the UK, Ireland, and in the Netherlands, while numbers were stable in Denmark. German