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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.
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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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Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancerProstate cancer is the most commonly diagnosed malignancy and the third leading cause of cancer deaths. GWAS have identified variants associated with prostate cancer susceptibility; however, mechanistic and functional validation of these mutations is lacking.
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The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondriaBNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.
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Tumor site-directed A1R expression enhances CAR T cell function and improves efficacy against solid tumorsCitation: Sek K, Chen AXY, Cole T, Armitage JD, Tong J, ……… Waithman J, Parish IA, et al. Tumor site-directed A1R expression enhances CAR T cell
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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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Mitochondrial damage in muscle specific PolG mutant mice activates the integrated stress response and disrupts the mitochondrial folate cycleDuring mitochondrial damage, information is relayed between the mitochondria and nucleus to coordinate precise responses to preserve cellular health. One such pathway is the mitochondrial integrated stress response (mtISR), which is known to be activated by mitochondrial DNA (mtDNA) damage. However, the causal molecular signals responsible for activation of the mtISR remain mostly unknown.
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Siblings of Individuals With Neurodevelopmental Conditions: Perspectives on Risk, Resiliency and Future Research DirectionsSiblings of individuals with neurodevelopmental conditions (NDCs) are at increased genetic and environmental risk for poorer psychosocial and neurocognitive outcomes compared to control groups of siblings of individuals without NDCs.
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Genomic characterization of clinically significant blood group variants in Aboriginal AustraliansHematological disorders are often treated with blood transfusions. Many blood group antigens and variants are population-specific, and for patients with rare blood types, extensive donor screening is required to find suitable matches for transfusion. There is a scarcity of knowledge regarding blood group variants in Aboriginal Australian populations, despite a higher need for transfusion due to the higher prevalence of renal diseases and anemia.
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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmapIn recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases.