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Copy number variation in tRNA isodecoder genes impairs mammalian development and balanced translationThe number of tRNA isodecoders has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both individually and combinatorially.
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Pulmonary bacteriophage and cystic fibrosis airway mucus: friends or foes?For those born with cystic fibrosis (CF), hyper-concentrated mucus with a dysfunctional structure significantly impacts CF airways, providing a perfect environment for bacterial colonization and subsequent chronic infection. Early treatment with antibiotics limits the prevalence of bacterial pathogens but permanently alters the CF airway microenvironment, resulting in antibiotic resistance and other long-term consequences.
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Gene filtering strategies for machine learning guided biomarker discovery using neonatal sepsis RNA-seq dataMachine learning (ML) algorithms are powerful tools that are increasingly being used for sepsis biomarker discovery in RNA-Seq data. RNA-Seq datasets contain multiple sources and types of noise (operator, technical and non-systematic) that may bias ML classification. Normalisation and independent gene filtering approaches described in RNA-Seq workflows account for some of this variability and are typically only targeted at differential expression analysis rather than ML applications.
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Western Australia remote aeromedical substance use disorders outcomesSubstance use disorders (SUDs) cause significant harm to regional Australians, who are more likely to misuse alcohol and other drugs (AODs) and encounter difficulty in accessing treatment services. The primary aims of this study were to describe the demographics of patients aeromedically retrieved from regional locations and compare hospital outcomes with a metropolitan-based cohort.
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Combination of clinical symptoms and blood biomarkers can improve discrimination between bacterial or viral community-acquired pneumonia in childrenCombining elevated CRP with the presence or absence of clinical signs/ symptoms differentiates definite bacterial from presumed viral pneumonia better than CRP alone
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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
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Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic ResponseThe functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target
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Improving delivery of secondary prophylaxis for rheumatic heart disease in a high-burden setting: Outcome of a stepped-wedge, community, randomized trialThis strategy did not improve adherence to rheumatic heart disease secondary prophylaxis within the study time frame.
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Qualitative Evaluation of a Complex Intervention to Improve Rheumatic Heart Disease Secondary ProphylaxisA multifaceted intervention was implemented using quality improvement and chronic care model approaches to improve delivery of penicillin prophylaxis for rheumatic heart disease
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The school experiences of children and adolescents with type 1 diabetes in Western AustraliaElevated levels of emotional difficulties among school students with T1D and variable levels of support from school staff to assist these students to manage their diabetes at school