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Research

Comprehensive Clinical Paediatric Assessment of Children and Adolescents Sentenced to Detention in Western Australia

To describe the comprehensive clinical paediatric assessment of a representative sample of children and adolescents (young people) sentenced to detention in Western Australia (WA) and participating in the first Fetal Alcohol Spectrum Disorder (FASD) prevalence study.

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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Over 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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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis Patients

Visceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.

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Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation

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Setting the RECORD straight: Developing a guideline for the reporting of studies conducted using observational routinely collected data

There has been a dramatic increase in the availability of "routine data" for research purposes, including data from electronic medical records,...

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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

To gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...

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Associations between maternal antioxidant intakes in pregnancy and infant allergic outcomes

Antioxidant intakes in pregnancy may influence fetal immune programming and the risk of allergic disease.

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Sugar sweetened beverage consumption by Australian children: Implications for public health strategy

High consumption of sugar sweetened beverages (SSBs) has been linked to unhealthy weight gain and nutrition related chronic disease.

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The relationship between MECP2 mutation type and health status and service use trajectories over time in a Rett syndrome population

This study aimed to investigate the trajectories over time of health status and health service use in Rett syndrome by mutation...

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Classification and regression tree and spatial analyses reveal geographic heterogeneity

Genome wide linkage studies (GWLS) have provided evidence for loci controlling visceral leishmaniasis on Chromosomes 1p22, 6q27, 22q12 in Sudan...