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Showing results for "Neuromuscular disorders "
Epigenomic research at The Kids explores the links between childhood disease and the molecular hallmarks of epigenetic control.
There is no known risk-free level of alcohol use in pregnancy. Despite this, many still believe that occasional drinking is safe. To-date, there is limited evidence of the influences on women's decisions about low to moderate alcohol use in pregnancy.
More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.
Breakdown of mitochondrial proteostasis activates quality control pathways including the mitochondrial unfolded protein response (UPRmt) and PINK1/Parkin mitophagy. However, beyond the up-regulation of chaperones and proteases, we have a limited understanding of how the UPRmt remodels and restores damaged mitochondrial proteomes.
Canonical RNA processing in mammalian mitochondria is defined by tRNAs acting as recognition sites for nucleases to release flanking transcripts. The relevant factors, their structures, and mechanism are well described, but not all mitochondrial transcripts are punctuated by tRNAs, and their mode of processing has remained unsolved.
Translation of developmental science discoveries is impeded by numerous barriers at different stages of the research-to-practice pipeline. Actualization of the vast potential of the developmental sciences to improve children's health and development in the real world is imperative but has not yet been fully realized.
Transmissible vaccines have the potential to revolutionize how zoonotic pathogens are controlled within wildlife reservoirs. A key challenge that must be overcome is identifying viral vectors that can rapidly spread immunity through a reservoir population.
Language disorder is highly prevalent in youth justice; however, orofacial, oromotor, speech, and voice anomalies have been largely overlooked. There has been some documentation of these among individuals with prenatal alcohol exposure (PAE), and adolescents with PAE are over-represented in youth justice.
Mitochondrial energy metabolism plays an important role in the pathophysiology of insulin resistance. Recently, a missense N437S variant was identified in the MRPP3 gene, which encodes a mitochondrial RNA processing enzyme within the RNase P complex, with predicted impact on metabolism. We used CRISPR-Cas9 genome editing to introduce this variant into the mouse Mrpp3 gene and show that the variant causes insulin resistance on a high-fat diet.
This study aimed to explore current attitudes towards sun protection, and sun-seeking behaviour among young Australian adolescents. It was done as part of a larger project aiming to develop a digital resource to support young people in making informed sun-health decisions.