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Mutational rescue of the activity of high-fidelity Cas9 enzymesProgrammable DNA endonucleases derived from bacterial genetic defense systems, exemplified by CRISPR-Cas9, have made it significantly easier to perform genomic modifications in living cells. However, unprogrammed, off-target modifications can have serious consequences, as they often disrupt the function or regulation of non-targeted genes and compromise the safety of therapeutic gene editing applications.
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Correlating Quantitative and Genomic SARS-CoV-2 Wastewater Data with Clinical Metrics in Metropolitan Perth, Western AustraliaWastewater-based epidemiology (WBE) has emerged as a key method for the continuous monitoring of COVID-19 prevalence including circulating SARS-CoV-2 lineages. WBE addresses the limitations of traditional clinical COVID-19 surveillance such as clinical test availability, fluctuating testing rates, and increased reliance on rapid antigen tests.
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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems.
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Epigenetics of the non-coding RNA nc886 across blood, adipose tissue and skeletal muscle in offspring exposed to diabetes in pregnancyDiabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown.
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The genomic evolutionary dynamics and global circulation patterns of respiratory syncytial virusRespiratory syncytial virus (RSV) is a leading cause of acute lower respiratory tract infection in young children and the second leading cause of infant death worldwide. While global circulation has been extensively studied for respiratory viruses such as seasonal influenza, and more recently also in great detail for SARS-CoV-2, a lack of global multi-annual sampling of complete RSV genomes limits our understanding of RSV molecular epidemiology.
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Precision-guided treatment in high-risk pediatric cancersRecent research showed that precision medicine can identify new treatment strategies for patients with childhood cancers. However, it is unclear which patients will benefit most from precision-guided treatment.
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Improved Glycemic Outcomes With Diabetes Technology Use Independent of Socioeconomic Status in Youth With Type 1 DiabetesTechnology use in type 1 diabetes (T1D) is impacted by socioeconomic status (SES). This analysis explored relationships between SES, glycemic outcomes, and technology use.
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The NDIS at ten years: designing an equitable scheme for the next decadeJenny Downs BApplSci (physio) MSc PhD Head, Child Disability 08 6319 1763 Jenny.Downs@thekids.org.au Head, Child Disability Areas of research
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Protocol for spatial prediction of soil transmitted helminth prevalence in the Western Pacific region using a meta-analytical approachSoil transmitted helminth infections are estimated to impact 24% of the world's population and are responsible for chronic and debilitating morbidity. Disadvantaged communities are among the worst affected and are further marginalized as infection prevalence fuels the poverty cycle.
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Introducing the Cochrane Nutrition & Physical Activity Thematic GroupImproving nutrition and physical activity is a global health priority. Within Cochrane’s new production model, Thematic Groups (TG) with specialist content and review methods expertise have been established. The purpose of TGs is to support the development and dissemination of high-quality evidence syntheses on priority issues.