Versatile roles of rubredoxin reductase of Pseudomonas aeruginosa TBCF10839 in virulence and stress protection.

Many microorganisms can degrade alkanes, using them as carbon source. The first and key step in alkane utilization is its hydroxylation, which requires a catalytic membrane-bound monooxygenase, a soluble rubredoxin and a soluble rubredoxin reductase. By comparing the phenotype of Pseudomonas aeruginosa strain TBCF10839 with an isogenic mutant that carries a plasposon within the rubredoxin reductase gene rubB (PA5349) and the complemented mutant, we report multiple, yet unknown roles of rubredoxin reductase in the physiology of P.

Machine learning-based penetrance of genetic variants.

Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then applied them to an independent cohort with linked exome data. Resulting probabilities were used to evaluate ML penetrance of 1648 rare variants in 31 autosomal dominant disease-predisposition genes.

Weak symptom overlap between cannabis use and internet gaming.

Previous research has suggested that substance use disorders and behavioural addictions tend to co-occur and have similar diagnostic criteria. This has prompted investigation into new diagnostic categories and conceptualizations of addiction. Network theory may provide a novel and useful framework for conceptualizing such psychological disorders.

FungAMR: a comprehensive database for investigating fungal mutations associated with antimicrobial resistance.

Antimicrobial resistance (AMR) is a global threat, especially in fungal pathogens. To optimize the use of available antifungals, we need rapid detection and monitoring tools that rely on high-quality AMR mutation data. Here we present FungAMR, a resource based on manual curation of 501 published studies on AMR mutations in clinically and agriculturally relevant fungal pathogens resulting in 35,792 entries covering 208 drugs, 246 genes and 95 fungal species.

Kidney Stone Events and ESKD Incidence in Patients with Enteric Hyperoxaluria from Diverse Enteric Etiologies.

Background: Enteric Hyperoxaluria (EH) is a risk factor for calcium oxalate nephrolithiasis and kidney disease. The study compares patient characteristics and urine metabolic profiles at the time of EH diagnosis and kidney stones and end stage kidney disease (ESKD) events during follow-up in a cohort with diverse causes of EH.

Methods: Adult patients with newly documented elevated urinary oxalate excretion (UOX) >40 mg/24hr between 1/1/2010 to 10/31/2023 and a known enteric diagnosis including inflammatory bowel disease, Exocrine Pancreatic Insufficiency (EPI), Celiac disease, Structural Intestinal Malabsorption (SIM), or Malabsorptive Bariatric surgery (Bariatric) were identified.