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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinPresent a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
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Codesigning enhanced models of care for Northern Australian Aboriginal and Torres Strait Islander youth with type 2 diabetes: study protocolPremature onset of type 2 diabetes and excess mortality are critical issues internationally, particularly in Indigenous populations. There is an urgent need for developmentally appropriate and culturally safe models of care. We describe the methods for the codesign, implementation and evaluation of enhanced models of care with Aboriginal and Torres Strait Islander youth living with type 2 diabetes across Northern Australia.
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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
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DraculR: A Web-Based Application for In Silico Haemolysis Detection in High-Throughput microRNA Sequencing DataThe search for novel microRNA (miRNA) biomarkers in plasma is hampered by haemolysis, the lysis and subsequent release of red blood cell contents, including miRNAs, into surrounding fluid. The biomarker potential of miRNAs comes in part from their multicompartment origin and the long-lived nature of miRNA transcripts in plasma, giving researchers a functional window for tissues that are otherwise difficult or disadvantageous to sample.
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DeepCAGE Transcriptomics Reveal an Important Role of the Transcription Factor MAFB in the Lymphatic EndotheliumVEGFR-3 signaling plays a central role in lymphatic biology, both in the development of the lymphatic network during embryogenesis as well as in...
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From Deficit to Strength-Based Aboriginal Health Research—Moving toward FlourishingAboriginal Australians have a fundamental human right to opportunities that lead to healthy and flourishing lives. While the impact of trauma on Aboriginal Australians is well-documented, a pervasive deficit narrative that focuses on problems and pathology persists in research and policy discourse.
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Association of gestational age and growth measures at birth with infection-related admissions to hospital throughout childhoodChildren who were born with reduced gestational age, birthweight, and birth length have persistently increased rates of infection-related admissions to hospital until age 18 years
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Randomised clinical trial using Coronary Artery Calcium Scoring in Australian Women with Novel Cardiovascular Risk Factors (CAC-WOMEN Trial): Study protocolCardiovascular disease (CVD) is the leading cause of death in women around the world. Aboriginal and Torres Strait Islander women (Australian Indigenous women) have a high burden of CVD, occurring on average 10-20 years earlier than non-Indigenous women.
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Transcriptional dynamics reveal critical roles for non-coding RNAs in the immediate-early responseThe immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers.
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Longitudinal Study of Indigenous Children: Adolescent never smoking and associations with individual, social, and environmental factorsFuelled by the tobacco industry, commercial tobacco use is a major cause of preventable morbidity and mortality among Aboriginal and Torres Strait Islander peoples. Preventing adolescent smoking initiation is critical to reducing uptake. Understanding individual, social, and environmental factors that are protective against smoking can inform prevention strategies.
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Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemiaAcute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.
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Children arriving hungry in the first year of school: population trends in Australia from 2009 to 2021Access to adequate nutrition is a human right. In 2023, 23% of Australian households were severely food insecure, reducing food intake, skipping meals or days of eating. Food insecurity in early childhood is linked to poor health and development. Specifically, breakfast provides children with the necessary nutrients required for sustained attention, memory, and cognitive growth. Australian research has reported that one in three children aged 8–18 years regularly skip breakfast. However, there is little understanding of the prevalence of food insecurity among young children in Australia.
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Type-2 diabetes epigenetic biomarkers: present status and future directions for global and Indigenous healthType-2 diabetes is a systemic condition with rising global prevalence, disproportionately affecting Indigenous communities worldwide. Recent advances in epigenomics methods, particularly in DNA methylation detection, have enabled the discovery of associations between epigenetic changes and Type-2 diabetes. In this review, we summarise DNA methylation profiling methods, and discuss how these technologies can facilitate the discovery of epigenomic biomarkers for Type-2 diabetes.
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Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across speciesAlcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure resembling common patterns of alcohol consumption in pregnancy in humans.
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“It Empowers You to Empower Them”: Health Professional Perspectives of Care for Hyperglycaemia in Pregnancy Following a Multi-Component Health Systems InterventionThe Northern Territory and Far North Queensland have a high proportion of Aboriginal and Torres Strait Islander women birthing who experience hyperglycaemia in pregnancy. A multi-component health systems intervention to improve antenatal and postpartum care in these regions for women with hyperglycaemia in pregnancy was implemented between 2016 and 2019.