Background: SORL1 encodes the retromer-associated receptor SORLA that functions in endosomal recycling. Rare variants in SORL1 have been associated with Alzheimer's disease (AD) and rare pathogenic variants are estimated to occur in up to 2.75% of early onset AD patients and in 1.
View Article and Find Full Text PDFBackground: The sortilin-related receptor 1 protein, SORL1, interacts with retromer to regulate trafficking of cargo out of the early endosome. Genetic variants in SORL1 that lead to a premature protein truncation (PTVs) are observed almost exclusively in Alzheimer's disease (AD) patients, suggesting SORL1's haploinsufficiency may be causal for AD. However, the large majority of SORL1 variants are rare missense variants which affect diverse structural domains, some of which may be causative for disease or (strongly) risk-increasing, while others are (likely) benign.
View Article and Find Full Text PDFBackground: Physical locations play an essential yet often overlooked role in healthcare implementation processes. Implementation Science frameworks such as the Theoretical Domains Framework, the Consolidated Framework for Implementation Research, and the Implementation in Context framework acknowledge the importance of the physical environment, but they often treat it as a passive backdrop for change. However, from a cultural geographic perspective, spaces and places are dynamic, influencing behavior, social structures, and the acceptance of new practices.
View Article and Find Full Text PDFIt is not well investigated whether exposure to specific drug classes is associated with COVID-19. We investigated the risk of SARS-CoV-2 infection and severe COVID-19 among healthcare workers according to prescription drug use. We conducted an observational study among Danish healthcare workers.
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