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Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural populations, whereas non-essential genes will tolerate their accumulation. However, predicted loss-of-function variants are enriched for annotation errors,
This chapter approaches the process of spatial peripheralization from the perspective of concept-induced harm. Harm is both a moral and a legal term construed along any form of physical or mental damage, be it intended or unintended. More broadly, however, harm denotes any form of setback to interest, and while harm can arise as the result of an onset of emotion, more often than not harm is concep
(1) If policy-makers and businesses are to encourage consumers to participate in circular consumption systems, knowledge is needed about what motivates consumers to choose different disposal options. This paper aims to shed light on what motivates consumers to engage in circular home textile disposal practices. (2) Quantitative data was collected through a survey of members of the IKEA Family prog
Metabolic responses to food influence risk of cardiometabolic disease, but large-scale high-resolution studies are lacking. We recruited n = 1,002 twins and unrelated healthy adults in the United Kingdom to the PREDICT 1 study and assessed postprandial metabolic responses in a clinical setting and at home. We observed large inter-individual variability (as measured by the population coefficient of
The article examines the innovation-job quality-employment nexus in social and health care in the United Kingdom and Sweden, respectively. Through seven case studies carried out with a common methodological and analytical framework in the two countries, it shows how the constraining factors of fiscal strictures derived from budgetary regimes and chronic labor shortages have two key consequences fo
Physical exercise for patients treated with allogeneic haematopoietic stem cell transplantation (allo-HSCT) has shown positive effects on the quality of life and fatigue in experimental trials. However, there is a need for longitudinal evaluation of exercise programmes implemented in a real-world clinical setting. The aim of this prospective study was to evaluate the impact of an exercise programm
Policy (or political) entrepreneurship is an actor-based framework to examine and understand policy change. Rooted in Kingdon’s multiple streams approach, the policy entrepreneur is defined as “a special kind of actor, embedded in the sociopolitical fabric, who is alert to opportunities and acts upon them; he or she amasses coalitions for the purpose of effecting change in a substantive policy sec
AbstractEndocarditis, or heart valve infection, can be caused by a number of pathogens, many of which are Gram-positive bacteria. The diagnosis is based on imaging techniques such as echocardiography and on blood culture. The implementation of fast and accurate species identification methods, such as the matrix-assisted laser desorption/ionisation-time of flight mass spectrometry (MALDI-TOF MS) in
The human Transient Receptor Potential A1 (hTRPA1) ion channel, also known as the wasabi receptor, acts as a biosensor of various potentially harmful stimuli. It is activated by a wide range of chemicals, including the electrophilic compound N-methylmaleimide (NMM), but the mechanism of activation is not fully understood. Here, we used mass spectrometry to map and quantify the covalent labeling in
Most signals detected by genome-wide association studies map to non-coding sequence and their tissue-specific effects influence transcriptional regulation. However, key tissues and cell-types required for functional inference are absent from large-scale resources. Here we explore the relationship between genetic variants influencing predisposition to type 2 diabetes (T2D) and related glycemic trai
Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2), causing Coronavirus Disease 19 (COVID-19), emerged at the end of 2019 and quickly spread to cause a global pandemic with severe socio-economic consequences. The early sequencing of its RNA genome revealed its high similarity to SARS, likely to have originated from bats. The SARS-CoV-2 non-structural protein 10 (nsp10) displays high sequ
Background: No studies explore the career core of successful scientific leaders in nursing, a context where role models and career support would be desirable. To achieve a successful academic career, there is a need for an in-depth understanding of how successful scientific leaders in healthcare think in order to guide junior researchers through their early careers. Aim: To explore the main concer
PurposeThe purpose of this paper is to investigate public partners’ motives for seeking and/or accepting partnerships with third sector organisations.Design/methodology/approachThe approach is to seek to identify and explain motives from different perspectives; as responses to government failure or voluntary failure, as related to governance structures, and/or as driven by resource dependencies. T
