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Digital RNase Footprinting of RNA-Protein Complexes and Ribosomes in MitochondriaRNA-binding proteins and mitochondrial ribosomes have been found to be linchpins of mitochondrial gene expression in health and disease. The expanding repertoire of proteins that bind and regulate the mitochondrial transcriptome has necessitated the development of new tools and methods to examine their molecular functions.
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Overlapping Streptococcus pyogenes and Streptococcus dysgalactiae subspecies equisimilis household transmission and mobile genetic element exchangeStreptococcus dysgalactiae subspecies equisimilis and Streptococcus pyogenes share skin and throat niches with extensive genomic homology and horizontal gene transfer possibly underlying shared disease phenotypes.
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Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysisIn comparisons between mutant and wild-type genotypes, transcriptome analysis can reveal the direct impacts of a mutation, together with the homeostatic responses of the biological system. Recent studies have highlighted that, when the effects of homozygosity for recessive mutations are studied in non-isogenic backgrounds, genes located proximal to the mutation on the same chromosome often appear over-represented among those genes identified as differentially expressed.
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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The Kids Research Institute Australia researcher awarded prestigious Eureka prizeA The Kids Research Institute Australia researcher who is part of an international research project working to understand how our genes keep us healthy has been awarded an Au
Research
A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumorsPediatric patients with recurrent and refractory cancers are in most need for new treatments. This study developed patient-derived-xenograft (PDX) models within the European MAPPYACTS cancer precision medicine trial.
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Genetic Correlates of Biological Aging and the Influence on Prediction of MortalityLongevity and disease-free survival are influenced by a combination of genetics and lifestyle. Biological age (BioAge), a measure of aging based on composite biomarkers, may outperform chronological age in predicting health and longevity. This study investigated the relationship between genetic risks, lifestyle factors, and delta age (Δage), estimated as the difference between biological and chronological age.
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Progesterone receptor mediates ovulatory transcription through RUNX transcription factor interactions and chromatin remodellingProgesterone receptor (PGR) plays diverse roles in reproductive tissues and thus coordinates mammalian fertility. In the ovary, rapid acute induction of PGR is the key determinant of ovulation through transcriptional control of a unique set of genes that culminates in follicle rupture. However, the molecular mechanisms for this specialized PGR function in ovulation is poorly understood.
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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.
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Mitochondrial gene expression is required for platelet function and blood clottingPlatelets are anucleate blood cells that contain mitochondria and regulate blood clotting in response to injury. Mitochondria contain their own gene expression machinery that relies on nuclear-encoded factors for the biogenesis of the oxidative phosphorylation system to produce energy required for thrombosis.