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Cytotoxic T-lymphocyte associated protein 4 (CTLA-4) haploinsufficiency is an inborn error of immunity characterized by immune dysregulation, autoimmunity, lymphoproliferation, and an increased risk of malignancy. While susceptibility to oncogenic viral infections has been proposed, the relationship between CTLA-4 haploinsufficiency and human papillomavirus (HPV)-driven carcinogenesis remains poorly characterized. We describe...
Regional‐scale disturbances drive long‐term decline of inshore coral reef fish assemblages in the Great Barrier Reef Marine ParkNARA Subscribed
Anthropogenic pressure is increasing the variety and frequency of environmental disturbance events, limiting recovery and leading to long‐term declines in wild plant and animal populations. Coral reefs and associated fish assemblages are inherently dynamic due to their susceptibility to a host of disturbances, but regional‐scale nuances in the drivers of long‐term change frequently remain poorly resolved. Here, we examine the...
Defining an ageing-related pathology, disease or syndrome: International Consensus StatementNARA Subscribed
Around the world, individuals are living longer, but an increased average lifespan does not always equate to an increased health span. With advancing age, the increased prevalence of ageing-related diseases can have a significant impact on health status, functional capacity and quality of life. It is therefore vital to develop comprehensive classification and staging systems for ageing-related pathologies, diseases and syndrom...
MAMMALS IN PORTUGAL : A data set of terrestrial, volant, and marine mammal occurrences in P ortugalNARA Subscribed
Mammals are threatened worldwide, with ~26% of all species being included in the IUCN threatened categories. This overall pattern is primarily associated with habitat loss or degradation, and human persecution for terrestrial mammals, and pollution, open net fishing, climate change, and prey depletion for marine mammals. Mammals play a key role in maintaining ecosystems functionality and resilience, and therefore information o...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
Networks of no-take marine protected areas (MPAs), where all extractive activities are prohibited, are the most effective tool to directly protect marine ecosystems from destructive and unsustainable human activities. No-take MPAs and MPA networks have been globally implemented in coastal seas, and their success has been significantly enhanced where science-based biophysical guidelines have informed their design. Increasingly,...
Regional climate downscaling over Europe: perspectives from the EURO-CORDEX communityNARA Subscribed
The European CORDEX (EURO-CORDEX) initiative is a large voluntary effort that seeks to advance regional climate and Earth system science in Europe. As part of the World Climate Research Programme (WCRP) - Coordinated Regional Downscaling Experiment (CORDEX), it shares the broader goals of providing a model evaluation and climate projection framework and improving communication with both the General Circulation Model (GCM) and...
TLR7 activation in epilepsy of tuberous sclerosis complexNARA Subscribed
Background Neuroinflammation and toll-like receptors (TLR) of the innate immune system have been implicated in epilepsy. We previously reported high levels of microRNAs miR-142-3p and miR-223-3p in epileptogenic brain tissue resected for the treatment of intractable epilepsy in children with tuberous sclerosis complex (TSC). As miR-142-3p has recently been reported to be a ligand and activator of TLR7, a detector of exogenous...
Ethanolamine is a valuable nutrient source that impacts Clostridium difficile pathogenesisNARA Subscribed
Summary Clostridium (Clostridioides) difficile is a gastrointestinal pathogen that colonizes the intestinal tract of mammals and can cause severe diarrheal disease. Although C. difficile growth is confined to the intestinal tract, our understanding of the specific metabolites and host factors that are important for the growth of the bacterium is limited. In other enteric pathogens, the membrane‐derived metabolite, ethanolamine...
Summary Many calls have been made to address antibiotic resistance in an environmental perspective. With this study, we showed the widespread presence of high‐level antibiotic resistant isolates on a collection of non‐susceptible Gram‐negative bacteria ( n = 232) recovered from soils. Bacteria were selected using amoxicillin, cefotaxime and imipenem, from sites representing different agricultural practices (extensive, intensiv...