Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFThe co-occurrence of diverticulitis with pregnancy is incredibly rare and the management of recurrent complicated diverticulitis may not be feasible in a pregnant patient. Adding cases to the incredibly sparse literature may highlight similarities and create potential recommendations for at-risk populations. We present a case of a female at 18 weeks' gestation who presented with left lower quadrant pain.
View Article and Find Full Text PDFAntimicrobial peptides (AMPs) are a diverse class of short, often cationic biological molecules that present promising opportunities in the development of new therapeutics to combat antimicrobial resistance. Newly developed in silico methods offer the ability to rapidly discover numerous novel AMPs with a variety of physiochemical properties. Herein, using the rAMPage AMP discovery pipeline, we bioinformatically identified 51 AMP candidates from amphibia and insect RNA-seq data and present their in-depth characterization.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
October 2022
Bacterial catabolic pathways have considerable potential as industrial biocatalysts for the valorization of lignin, a major component of plant-derived biomass. Here, we describe a pathway responsible for the catabolism of acetovanillone, a major component of several industrial lignin streams. GD02 was previously isolated for growth on acetovanillone.
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