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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

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

Background: Young people's daily lives and social interactions changed remarkably during the COVID-19 pandemic as schools and cinemas closed, leisure activities were cancelled, and gatherings were regulated. Questions have been raised by the media, schools, policy makers, and research communities about the effect on young people's online behaviors. Objective: This cross-sectional study aimed to st

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

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

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

Biobased plastics are seen as promising alternative material to reduce negative environmental impacts of plastic food packaging. Despite many years of development efforts of biobased plastics, the current commercial use of them is still low indicating barriers to their application. The purpose of this interview study is to explore the perceptions of industry stakeholders towards the use of biobase

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

Cyclin dependent-kinase 2 (CDK2) plays important functions during the mitotic cell cycle and also facilitates several key events during germ cell development. The majority of CDK2's known meiotic functions occur during prophase of the first meiotic division. Here, CDK2 is involved in the regulation of meiotic transcription, the pairing of homologous chromosomes, and the maturation of meiotic cross