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        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome. ...

        Research

        Unique architectural features of mammalian mitochondrial protein synthesis

        Mitochondria rely on coordinated expression of their own mitochondrial DNA (mtDNA) with that of the nuclear genome for their biogenesis. The bacterial ancestry of mitochondria has given rise to unique and idiosyncratic features of the mtDNA and its expression machinery that can be specific to different organisms. In animals, the mitochondrial protein synthesis machinery has acquired many new components and mechanisms over evolution. ...

        Research

        The FASTK family proteins fine-tune mitochondrial RNA processing

        Transcription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs. ...

        Research

        Plasma micronutrient levels and telomere length in children

        Telomeres are long hexamer (TTAGGG) repeats at the ends of chromosomes, and contribute to maintenance of chromosomal stability. ...

        Research

        Aberrant expression of aldehyde dehydrogenase 1A (ALDH1A) subfamily genes in acute lymphoblastic leukaemia is a common feature of T-lineage tumours

        The class 1A aldehyde dehydrogenase (ALDH1A) subfamily of genes encode enzymes that function at the apex of the retinoic acid (RA) signalling pathway. ...

        Research

        Vehicle refuelling, use of domestic wood heaters and the risk of childhood brain tumours: Results from an Australian case-control study

        The aetiology of childhood brain tumours (CBT) is largely unknown. ...

        Research

        Time spent outdoors in childhood is associated with reduced risk of myopia as an adult

        Myopia (near-sightedness) is an important public health issue. Spending more time outdoors can prevent myopia but the long-term association between this exposure and myopia has not been well characterised. We investigated the relationship between time spent outdoors in childhood, adolescence and young adulthood and risk of myopia in young adulthood. The Kidskin Young Adult Myopia Study (KYAMS) was a follow-up of the Kidskin Study, a sun exposure-intervention study of 1776 children aged 6-12 years. ...

        Research

        Participation in paediatric cancer studies: Timing and approach to recruitment

        In this sub-study, we aimed to investigate factors that may have influenced study participation and completeness of survey completion. ...

        Research

        Molecular basis of translation termination at noncanonical stop codons in human mitochondria

        The genetic code that specifies the identity of amino acids incorporated into proteins during protein synthesis is almost universally conserved. Mitochondrial genomes feature deviations from the standard genetic code, including the reassignment of two arginine codons to stop codons. ...

        Cystic Fibrosis

        Discover. Prevent. Cure. Cystic Fibrosis Cystic fibrosis (CF) is the most common life‐shortening genetic disease affecting children. It is a genetic ...

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