GGGGCC (GC) repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this genetic mutation leads to neurodegeneration remains largely unknown. Using CRISPR-Cas9 technology, we deleted EXOC2, which encodes an essential exocyst subunit, in induced pluripotent stem cells (iPSCs) derived from C9ORF72-ALS/FTD patients.
View Article and Find Full Text PDFMany of the biological functions performed by RNA are mediated by RNA-binding proteins (RBPs), and understanding the molecular basis of these interactions is fundamental to biology. Here, we present massively parallel RNA assay combined with immunoprecipitation (MPRNA-IP) for in vivo high-throughput dissection of RNA-protein interactions and describe statistical models for identifying RNA domains and parsing the structural contributions of RNA. By using custom pools of tens of thousands of RNA sequences containing systematically designed truncations and mutations, MPRNA-IP is able to identify RNA domains, sequences, and secondary structures necessary and sufficient for protein binding in a single experiment.
View Article and Find Full Text PDFWe conducted a systematic review and meta-analysis on the relationship between the neutrophil to lymphocyte ratio (NLR) and coronary artery abnormalities (CAA) in patients with Kawasaki disease (KD), according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statements. We searched PubMed, Scopus, Web of Science, Embase, TRIP, Google Scholar, and ProQuest up to the 8th of August 2022. This was done to retrieve eligible studies.
View Article and Find Full Text PDFEngagement in one's healthcare is paramount to improving health outcomes. As adolescents begin their journey into adulthood and increase involvement in their health-care decision-making, it is critical to understand their ability to be involved in their healthcare. The purpose of this instrumentation study was to develop and evaluate the psychometric properties and underlying factors of the Adolescent Capacity to Engage Index (ACEI) tool which measures the construct of an adolescent's capacity to engage in their healthcare.
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