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TANGO2 binds crystallin alpha B and its loss causes desminopathy

Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TANGO2 is still unknown. 

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.

Long-Term Outcome of Young Infants With Suspected Neuroblastoma following Observation as Primary Therapy: A Report From the Children's Oncology Group

Several studies have established that patients with localized perinatal neuroblastoma can be safely observed; however, long-term outcomes have not been previously reported. We evaluated long-term outcomes of infants with suspected perinatal neuroblastoma enrolled on the Children's Oncology Group ANBL00P2, which included an expectant observation approach. 

The human milk microbiome is minimally associated with breastfeeding practices

The human milk microbiome is dominated by typical oral and skin bacteria, suggesting that bacterial communities from the infant mouth and maternal skin contribute to the development of the human milk microbiome. It is postulated that breastfeeding characteristics, such as breastfeeding frequency and duration, could lead to different levels of exposure to oral and skin bacteria, and subsequently, altered bacterial profiles in human milk.  

Advancing bioinformatics capacity through Nextflow and nf-core: lessons from an early-to mid-career researchers-focused program at The Kids Research Institute Australia

he increasing adoption of high-throughput "omics" technologies has heightened the demand for standardized, scalable, and reproducible bioinformatics workflows. Nextflow and nf-core provide a robust framework for researchers, particularly early- and mid-career researchers (EMCRs), to navigate complex data analysis.

Thriving Under Threat: A Scoping Review of Human Thriving in Recurring Potentially Traumatic, Elevated Threat and High Stress Work Environments

In this scoping review, we explore the concept of human thriving in work populations that are repeatedly exposed to high stress, elevated threat, and potential trauma-professions such as first responders and front-line military personnel. The concept of thriving, defined as the joint experience of development and success, shares some similarities with other psychological concepts (e.g., resilience, posttraumatic growth, flourishing), but is distinct due to the consideration of physical wellbeing, and success (e.g., performance). 

Supported exercise within transdiagnostic mental health services: a protocol paper for a two-arm hybrid effectiveness-implementation trial

People living with severe mental illness have a reduced life expectancy when compared to the general population largely due to physical health comorbidities. Exercise is a valuable, evidence-based component of mental healthcare, with positive effects on physical health, mental health, and quality of life.

Loneliness and Emotional and Externalizing Problems in Early Adolescence: Moderating and Mediating Effects of Coping Skills

Loneliness is an unavoidable facet of human existence. When chronic and intense, adolescent loneliness is associated with maladjustment over time. A prospective multiple-cohort study examined the links between child-reported loneliness and coping skills and parent-rated child mental health in early adolescence, with a total of 266 students from 75 primary and 152 secondary schools.

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.