Mutations in GBA1 cause Gaucher disease and are the most important genetic risk factor for Parkinson’s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene, GBAP1. We show that >50% of short RNA-sequencing reads mapping to GBA1 also map to GBAP1. Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantif

Introduction: Reporting of hypoglycaemia and its impact in clinical studies is often retrospective and subject to recall bias. We developed the Hypo-METRICS app to measure the daily physical, psychological, and social impact of hypoglycaemia in adults with type 1 and insulin-treated type 2 diabetes in real-time using ecological momentary assessment (EMA). To help assess its utility, we aimed to de

Obesity is considered by many as a lifestyle choice rather than a chronic progressive disease. The Innovative Medicines Initiative (IMI) SOPHIA (Stratification of Obesity Phenotypes to Optimize Future Obesity Therapy) project is part of a momentum shift aiming to provide better tools for the stratification of people with obesity according to disease risk and treatment response. One of the challeng

Background and purpose — Reduced range of motion (ROM) and spasticity are common secondary findings in cerebral palsy (CP) affecting gait, positioning, and everyday functioning. These impairments can change over time and lead to various needs for intervention. The aim of this study was to analyze the development path of the changes in hamstring length, knee extension, ankle dorsiflexion, and spast

Myocardin-related transcription factors (MRTFs: myocardin/MYOCD, MRTF-A/MRTFA, and MRTF-B/MRTFB) suppress production of pro-inflammatory cytokines and chemokines in human smooth muscle cells (SMCs) through sequestration of RelA in the NF-κB complex, but additional mechanisms are likely involved. The cGAS-STING pathway is activated by double-stranded DNA in the cytosolic compartment and acts throug

Finns det sätt att forska som är queer- eller transfeministiska? Det korta svaret är nej. Och ja. Och nej igen. Jag landar i ett rungande nja. Och försöker utforska frågan med fler frågor: När anser vi att en studie är trans eller queer? Gäller det forskningsfrågorna? Deltagarna? Teorierna? Forskarens position? Eller just metoderna? Med denna text vill jag bekräfta dig som är nyfiken på att bedriv

In this text, I analyze the role of gender-sex-sexuality in school policies in Sweden, Canada, and Germany. Policies concerning young people’s negotiations of gender-sex-sexuality in schools draw on specific understandings of societal belonging and cohesion. Invariably such policies are part of national discourses regarding values and norms of gender and relationships, informed by concepts of ethn

Flash droughts, as sub-seasonal phenomena, are characterized by their rapid onset and significant impact on terrestrial ecosystems. However, understanding how vegetation responds to flash droughts and the mechanisms governing vegetation recovery remains elusive. Here, we analysed the response of vegetation productivity to flash droughts and identified the most relevant drivers controlling vegetati

Objective: Powered mobility offers young children the opportunity to explore their world, develop awareness of their environment, and actively participate in play and daily activities. It enables children with severe disabilities to experience equity and equality by increasing their mobility. Powered mobility devices not only provide means for movement but also enhance children's understanding of

IntroductionHomicides using knives or other sharp objects are the most common type of homicide in Europe, and the second most common type of homicide worldwide. In contrast, suicides using sharp objects are rarer, constituting only a few per cent of all suicides in western countries. We investigated single stab injuries to the trunk in both homicides and suicides to assess differences in extent of

Today's technology is able to intervene in biological processes in a highly concrete way. Technology thus shapes and reshapes our world in a very special way, not just biologically but also culturally. This raises questions relevant to the cultural sciences. In this article I discuss biotechnology and cultural transformation by considering xenotransplantation. The focus is on patients who have rec

This paper studies the sources of the Russia–Ukraine conflict. The prerequisites for this conflict began when, in Ukraine and Russia, the liberal tendencies that emerged after the collapse of the USSR gave way to conservatism. The differences between the current state ideologies of the two countries are demonstrated through a comparative analysis of 16 Russian and Ukrainian school history and lite

Abstract in RussianАннотация. Рост социального неравенства, который наблюдается внаши дни в равной мере как в постсоветских странах, так и в странахлиберальной демократии и развитой рыночной экономикой, связан спарадоксальной политической ситуацией. Приоритетной вполитической повестке дня выступает борьба с «экзистенциальнымнеравенством» (Й. Терборн), при этом именно экономическоенеравенство все бThe growth of economic and social inequality, which is observed nowadays in equal measure in both post-Soviet and states with developed market economies and liberal democracy, is connected to a paradoxical political situation. The priority in the political agenda is the fight against "existential inequality" (G. Therborn), while economic inequality is increasingly perceived as one of the greatest

Philosophy played an important role in the Soviet political system becauseit provided ideological legitimization for the regime. Therefore, throughout the existence of the Soviet Union, the authorities and general populations showed a great interest in the works of philosophers. The collapse of the Soviet Union and its Marxist-Leninist ideology led to philosophy’s losing its privileged political s

Recension av Silvia Goldbaum Tarabini, Danske jøders liv og død i Theresienstadt.Review of Silvia Goldbaum Tarabini: Danske jøders liv og død i Theresienstadt. Köpenhamn: Gyldendal, 2023.