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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negat

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis

Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve vision. Using data from the United Kingdom Biobank we showed that combining an MS-genetic risk score (GR

Attributional change and common-sense knowledge

The paper reports a study of change in causal explanations in therapeutic conversations. It shows how attribution of thoughts, feelings and behaviours which are experienced as problematic, e.g. embarrassing, awkward, absurd or painful, is changed from internal to more external. Namely, analysis focuses on how dispositional attribution – attributing problematic thoughts, feelings and behaviours to

Taking ownership of gaming and disability

Gaming among young people with disabilities is often understood within a habilitation frame, as if video and computer games primarily should help to exercise and ‘improve’. Little is known about how these games are used within a private frame, and how young people with disabilities operate their gaming as concrete persons rather than as treatment-receiving clients. Through the use of stories, desc

Practicing degrowth as a business? : Transcending binaries

With the world facing severe ecological degradation, we hear calls for radical change more and more often. One of these calls is for degrowth in materially wealthy nations, including the Nordics. Degrowth fundamentally challenges the modern assumption that economic growth is good for humanity and the planet, and therefore necessitates change in civil society, state and production. In the contempor

Improved Working Conditions and Paths to Worker Solidarity in an Increasingly Diversified EU

The chapter discusses the importance of the EU continuing to promote improved living and working conditions for its citizens without simultaneously risking competition between workers from different member states. The problem discussion is based on the significance of social improvements for the EU to maintain support among citizens and the challenges that arise when EU law encounters the differen

Modulation of lung cancer cell plasticity and heterogeneity with the restoration of cisplatin sensitivity by neurotensin antibody

Overall survival of patients with metastatic non-small cell lung cancer (NSCLC) has significantly improved with platinum-based salt treatments and recently with targeted therapies and immunotherapies. However, treatment failure occurs due to acquired or emerging tumor resistance. We developed a monoclonal antibody against the proform of neurotensin (LF-NTS mAb) that alters the homeostasis of tumor

Are evaluative bibliometrics neoliberal? A historical and theoretical problematization.

In this article, we problematize the notion that the continuously growing use of bibliometric evaluation can be effectively explained by ‘neoliberal’ ideology. A prerequisite for our analysis is an understanding of neoliberalism as both denoting a more limited set of concrete principles for the organization of society (the narrow interpretation) or as a hegemonic ideology (the broad interpretation

Cross-Ancestry DNA Methylation Marks of Insulin Resistance in Pregnancy : An Integrative Epigenome Wide Association Study

Although there are some epigenome-wide association studies (EWAS) of insulin resistance, most of them did not replicate their findings and are focused in populations of European ancestry limiting the generalizability. In EPIPREG (294 Europeans and 162 South Asians), we conducted an EWAS of insulin resistance in maternal peripheral blood leukocytes, with replication in Born in Bradford (n=879; 430

Towards Local Democracy – a New Partnership is Signed - The Raoul Wallenberg Institute of Human Righ

Towards Local Democracy – a New Partnership is Signed - The Raoul Wallenberg Institute of Human Rights and Humanitarian Law Skip to content Search for: Search Button Home About Us Who We Are Our History About Raoul Wallenberg Our Theory of Change Staff Opportunities Annual Reports Whistleblower Our work What we do Multi-Disciplinary Research Higher Education Strategic Advice and Analysis Outreach

https://rwi.lu.se/2017/10/24/towards-local-democracy-new-partnerships-signed/ - 2025-12-14