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We report a role for the mitochondrial single-stranded DNA binding protein (mtSSB) in regulating mitochondrial DNA (mtDNA) replication initiation in mammalian mitochondria. Transcription from the light-strand promoter (LSP) is required both for gene expression and for generating the RNA primers needed for initiation of mtDNA synthesis.

Trajectories of airway remodeling and functional impairment in asthma are consistent with the notion that airway pathology precedes or coincides with the onset of asthma symptoms and may be present at birth.

This study evaluated the efficacy of using a hybrid closed loop system in restoring hypoglycemia awareness in individuals with impaired awareness of hypoglycemia. Participants with IAH (Gold score ≥4) were recruited into a randomized crossover pilot study.

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Increasing numbers of trans young people are seeking medical services worldwide, but there have been few qualitative investigations of the experiences of trans young people attempting to engage with these services to explore in-depth experiences of clinical interactions.

Emerging research suggests that maternal immune activation (MIA) may be associated with an increased risk of adverse neurodevelopmental and mental health outcomes in offspring. Using data from the Raine Study, we investigated whether MIA during pregnancy was associated with increased behavioral and emotional problems in offspring longitudinally across development.

The goal of therapy in Type 1 diabetes is to achieve optimal glycaemic targets and reduce complications. Robust data representing glycaemic outcomes across the lifespan are lacking in Australasia.

Atypical facial morphology, particularly increased facial asymmetry, has been identified in some individuals with Autism Spectrum Conditions (ASC). Many cognitive, behavioural and biological features associated with ASC also occur on a continuum in the general population.

As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.

We investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.