Despite genome-wide association studies of late-onset Alzheimer's disease (LOAD) having identified many genetic risk loci, the underlying disease mechanisms remain largely unknown. Determining causal disease variants and their LOAD-relevant cellular phenotypes has been a challenge. Leveraging our approach for identifying functional GWAS risk variants showing allele-specific open chromatin (ASoC), we systematically identified putative causal LOAD risk variants in human induced pluripotent stem cells (iPSC)-derived neurons, astrocytes, and microglia (MG) and linked risk allele to a previously unappreciated MG-specific role of in lipid droplet (LD) accumulation.
View Article and Find Full Text PDFBackground: Improvement in exocrine pancreatic function in persons with CF (pwCF) on cystic fibrosis transmembrane conductance regulator (CFTR) modulators has been documented in clinical trials using fecal pancreatic elastase-1 (FE-1). Our group endeavored to evaluate real-world data on FE-1 in children on CFTR modulator therapy at three pediatric cystic fibrosis (CF) centers.
Methods: Pediatric pwCF were offered FE-1 testing if they were on pancreatic enzyme replacement therapy (PERT) and on CFTR modulator therapy according to their center's guideline.
The purpose of this report was to identify and evaluate dietary changes in women who were participating in a study on the effects of weight loss in overweight lactating women on the growth of their infants. Women were randomly assigned at 4 weeks postpartum to either restrict energy intake by 500 kcal/day (diet and exercise group) or to maintain usual dietary intake (control group) for 10 weeks. The diet and exercise group significantly decreased fats, sweetened drinks, sweets and desserts, snack foods, and energy intake.
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