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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

Talk in safety-critical activities displays features that distinguish it from both ordinary conversations as well as from other institutional talk, but it also shares some features with these. Formality and informality are both interactionally accomplished phenomena, although shaped through different sources. Safety rules and pre-printed forms constitute two sources of formalization, dictating how

The western fertility decline is arguably the most significant demographic change to have occurred in the past 200 years, yet its causes and processes are still shrouded in ambiguity due to a lack of individual-level longitudinal data. A growing body of research has helped improve our understanding of the decline's causes by examining the development of socioeconomic differences in fertility using

Large scale infrastructure developments means balancing of partly conflicting interests of economic growth, social cohesion, environmental impact etc. How this balancing is done when the project hits the local context is depending on the legislative framework, for instance through building permits environmental assessment. Still, there can be a big difference between the intentions of the law, and

Competing Institutional Logics in Diaconal Work “Institutional logics” is a concept within the context of institutional theory. Institutions can be defined as patterns of activity rooted in material practices and symbolic systems. These institutional orders are all shaped by the history and each of them has a central logic that guides its organizing principles. The institutional logic provides

Various policy instruments and policy reforms are being implemented to encourage Green Growth and Green Economy. However, comprehensive ex-post evaluation policy methods have yet to be developed. The emerging literature shows that there is substantial ambiguity and discrepancy about how to measure the performance of policy instruments driving a Green Economy in general and, in our case, a Green En

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