Congenital disorders of glycosylation (CDG) comprise a class of inborn errors of metabolism resulting from pathogenic variants in genes coding for enzymes involved in the asparagine-linked glycosylation of proteins. Unexpectedly to date, no CDG has been described for , encoding the alpha-1,2-glucosyltransferase catalyzing the final step of lipid-linked oligosaccharide biosynthesis. Genome-wide association studies (GWAS) of human traits in the UK Biobank revealed significant SNP associations with short sleep duration, reduced napping frequency, later sleep timing and evening diurnal preference as well as cardiac traits at a genomic locus containing a pair of paralogous enzymes and .
View Article and Find Full Text PDFIn this study, we investigated the effects of infant fecal fermentation-derived metabolites of digested osteopontin (OPN) and 2'-fucosyllactose (2'-FL), either individually or in combination, on intestinal barrier function using a Caco-2/HT-29 coculture cell model. Our results suggested that the OPN/2'-FL (1:36-1:3) cofermentation metabolites improved epithelial barrier integrity by supporting the mRNA and protein expression of occludin, claudin-1, claudin-2, ZO-1, and ZO-2. All of the OPN/2'-FL treatments decreased the production of IL-1β, IL-6, and TNF-α, while the OPN/2'-FL ratio increased IL-10 production by inhibiting activation of the MyD88/IκB-α/NF-κB signaling pathway.
View Article and Find Full Text PDFJ Bone Joint Surg Am
December 2024
➢ Skeletal stem cells (SSCs) continually replenish mature cell populations to support skeletal homeostasis.➢ SSCs repopulate by self-renewal, have multilineage potential, and are long-lived in vivo.➢ SSCs express specific combinations of cell surface markers that reflect their lineage identity.
View Article and Find Full Text PDFObjective: To evaluate cochlear implant speech perception among patients with sporadic inner ear schwannoma who underwent ipsilateral implantation.
Study Design: Retrospective multi-institutional cohort study.
Setting: Eleven tertiary academic medical centers across Germany, Denmark, and the United States.
As a wide variety of intelligent technologies become part of everyday life, researchers have explored how people conceptualize agents that in some ways act and think like living things but are clearly machines. Much of this work draws upon the idea that people readily default to generalizing human-like properties to such agents, and only pare back on these generalizations with added thought. However, recent findings have also documented that people are sometimes initially hesitant to attribute minds to a machine but are more willing to do so with additional thought.
View Article and Find Full Text PDF