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Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.

The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondria

BNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.

Rewiring endogenous genes in CAR T cells for tumour-restricted payload delivery

The efficacy of chimeric antigen receptor (CAR) T cell therapy in solid tumours is limited by immunosuppression and antigen heterogeneity. To overcome these barriers, 'armoured' CAR T cells, which secrete proinflammatory cytokines, have been developed. However, their clinical application has been limited because of toxicity related to peripheral expression of the armouring transgene. 

Tumor site-directed A1R expression enhances CAR T cell function and improves efficacy against solid tumors

Citation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell

Acute rheumatic fever

Acute rheumatic fever is an autoimmune disorder resulting from Group A Streptococcus pharyngitis or impetigo in children and adolescents, which may evolve to rheumatic heart disease (RHD) with persistent cardiac valve damage. RHD causes substantial mortality and morbidity globally, predominantly among socioeconomically disadvantaged populations, with an interplay of social determinants of health and genetic factors determining overall risk.

Predicting Problem Gambling in Young Men: The Impact of Sports Gambling Frequency and Internalizing Symptoms

Young men aged 18-25 years are at disproportionately increased risk for gambling problems compared to their older or female counterparts. The unique mechanisms that precipitate these problems in this group remain unclear. Data from the largest longitudinal cohort study on Australian men's health (the Ten to Men Study) were used to identify the psychosocial, health-related, and gambling-related behavioral predictors of problem gambling severity in 265 young men aged 18-25 years. Hierarchical multiple ordinal logistic regression analyses found these predictors to explain a moderate proportion of variance in problem gambling severity. 

Understanding Disclosure Decisions in Parents of Children with Attention Deficit/Hyperactivity Disorder

Parents of children with attention-deficit/hyperactivity disorder (ADHD) often make disclosure decisions about their child's ADHD on their behalf. While disclosure can facilitate access to support, it risks stigma. Despite ADHD being one of the most common neurodevelopmental conditions, little is known about parent's experiences in relating information about their child's ADHD diagnosis or medication use, to others.

Physiological responses to exercise in survivors of preterm birth: a meta-analysis

Survivors of preterm birth (<37 weeks' gestation) have low peak oxygen uptake, a global measure of aerobic fitness and an established predictor of increased morbidity and mortality. However, little is known about other cardiopulmonary outcome measures in this population. We addressed the hypothesis that preterm birth is associated with abnormal respiratory, cardiovascular and metabolic responses to exercise, as assessed by cardiopulmonary exercise testing, via a systematic review and meta-analysis.

Concentration of food allergens in breastmilk and association with maternal factors– A systematic review

Common food allergens have been detected in breast milk with wide inter-individual variations in concentrations. As maternal factors, such as age, smoking, and body mass index have been associated with breast milk composition, we aimed to identify maternal characteristics associated with the concentration of food allergens in breast milk.

Exploring the evidence on housing and health among Indigenous peoples in high-income countries: A scoping review protocol

The objective of this scoping review is to understand the nature of the published evidence on housing suitability, affordability, insecurity, and homelessness in relation to physical and mental health, domestic violence, and health service use among Indigenous people in high-income countries.