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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

Towards health systems resilience to extreme weather events: Managing health needs during floods in Cambodia : EBA Dissertation Brief 2020:07

Extreme weather events like floods are expected to become more common asclimate change continues, putting health at risk. Systems should be able tocontinue delivering essential health services when shocked by events like floodsand provide care for the expected new health needs caused by the shock.Resilient health systems have the capacity to maintain their functions and tochange when shocked, enab

Association between serum urate and CSF markers of Alzheimer's disease pathology in a population-based sample of 70-year-olds

Introduction: The relationship between urate and biomarkers for Alzheimer's disease (AD) pathophysiology has not been investigated. Methods: We examined whether serum concentration of urate was associated with cerebrospinal fluid biomarkers, amyloid beta (Aβ)42, Aβ40, phosphorylated tau (p-tau), total tau (t-tau), neurofilament light (NfL), and Aβ42/Aβ40 ratio, in cognitively unimpaired 70-year-ol

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

Aquaglyceroporins and orthodox aquaporins in human adipocytes

Aquaporins play a crucial role in water homeostasis in the human body, and recently the physiological importance of aquaporins as glycerol channels have been demonstrated. The aquaglyceroporins (AQP3, AQP7, AQP9 and AQP10) represent key glycerol channels, enabling glycerol flux across the membranes of cells. Adipocytes are the major source of glycerol and during lipolysis, glycerol is released to

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a

Recognising children’s involvement in child and family therapy sessions : A microanalysis of audiovisual recordings of actual practice

Children’s right to involvement in practices that address their well-being is frequently highlighted, yet how children exercise involvement in face-to-face encounters has remained fairly unknown. To fulfil our aim of identifying, describing and defining children’s involvement, we conducted an inductive microanalysis of face-to-face dialogue on audiovisual recordings of naturally occurring therapy Children’s right to involvement in practices that address their well-being is frequently highlighted, yet how children exercise involvement in face-to-face encounters has remained fairly unknown. To fulfil our aim of identifying, describing and defining children’s involvement, we conducted an inductive microanalysis of face-to-face dialogue on audiovisual recordings of naturally occurring therapy

Assessment cultures in higher education : reducing barriers and enabling change

A series of worldwide projects concerning assessment, student outcomes and quality in higher education has revealed the need for a change in how higher education institutions assess student outcomes; however, many academics remain unconvinced. The success of assessment change arguably depends on the assessment culture within the institution. This qualitative investigation of assessment cultures drA series of worldwide projects concerning assessment, student outcomes and quality in higher education has revealed the need for a change in how higher education institutions assess student outcomes; however, many academics remain unconvinced. The success of assessment change arguably depends on the assessment culture within the institution. This qualitative investigation of assessment cultures dr

Rural gentrification and heritage-led resistance: walking through a manifestation of nostalgia or an active social response?

Rural gentrification, amenity-led in-migration and displacement in more attractive parts of the countryside are taking up more of the rural discourse. Along this, the centrality of landscape, as a driver for gentrification and as something affected by the same notion, is establishing. This paper explores the paradox of how people move to a certain area because they find that particular landscape a

Will the Center Hold? What Research Centers Do to Universities and to Societal Challenges

Research centers represent a specific organizational format for linking the traditional university organization with external actors, goals, and processes in time-limited, concentrated efforts of research and collaboration. Yet, the center format contains large variations, and centers act as interfaces between university organizations, societal actors, and research funders in multifaceted ways. In

The indirect association between moral disengagement and bystander behaviors in school bullying through motivation : Structural equation modelling and mediation analysis

Guided by the social-cognitive theory and self-determination theory, this study examined whether moral disengagement is indirectly associated with pro-bullying, passive bystanding, and defending, mediated by autonomous motivation, introjected motivation, extrinsic motivation, and amotivation to defend victims of bullying among early adolescents. Participants were 901 upper elementary students from

Extraction and trapping of truffle flavoring compounds into food matrices using supercritical CO2

A supercritical fluid extraction methodology was used to extract flavoring and bioactive compounds from truffles. Some parameters such as CO2 flow rate (1–3 mg/mL), extraction time (15–90 min) and different trapping food matrices (grape seed oil, gelatin, agar agar and water) were optimized using response surface methodology to enhance extraction and trapping yields. The optimal conditions (2.27 m

A phenome-wide comparative analysis of genetic discordance between obesity and type 2 diabetes

Obesity and type 2 diabetes are causally related, yet there is considerable heterogeneity in the consequences of both conditions and the mechanisms of action are poorly defined. Here we show a genetic-driven approach defining two obesity profiles that convey highly concordant and discordant diabetogenic effects. We annotate and then compare association signals for these profiles across clinical an

Tech-savvy men and caring women: Middle school students’ gender stereotypes predict interest in tech-education

The labor market is strongly gender segregated with few women working in the tech sector (e.g. IT) and few men working in the care sector (e.g. nursing). We tested the hypothesis that middle school students strongly associate technology with men and caregiving with women, and that this relates to girls’ lower interest in tech-focused educations. We measured technology/caregiving gender stereotypes