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Showing 1–7 of 7 results
Advanced filters: Author: Gabrielle S. Blizard Clear advanced filters

  • For children with acute lymphoblastic leukaemia (ALL), those with Down syndrome (DS) have decreased survival compared with children without DS. Here, the authors use exome sequencing to characterise the mutational landscape of patients with both ALL and DS and highlight genes related to survival and relapse.

    • Sergey I. Nikolaev
    • Marco Garieri
    • Stylianos E. Antonarakis
    Research
    Nature Communications
    Volume: 5, P: 1-6

  • mRNA vaccines have been successfully developed, but a better understanding of in vivo distribution of the encoded antigen may aid further improvements. Here the authors use PET imaging and demonstrate transient expression of the vaccine antigen in the injection site and draining lymph nodes in mice and non-human primates.

    • Gabrielle S. Blizard
    • Garima Dwivedi
    • Mark A. Sellmyer
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-14

  • Cornelia de Lange syndrome is a developmental disorder typically caused by mutations in the gene encoding the cohesin loader NIPBL. The authors, here, by analysing previously identified mutations in BRD4 associated with the disease, reveal that a BRD4 mutation affects DNA damage signalling, and perturbs regulation of DNA repair in mutant cells.

    • Gabrielle Olley
    • Madapura M. Pradeepa
    • Charlene Boumendil
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12

  • Ruth Loos and colleagues report a meta-analysis of genome-wide association studies in 181,171 individuals identifying 14 new loci associated with heart rate and test these for association with cardiac conduction, rhythm disorders and cardiovascular disease. Their experimental studies in Drosophila melanogaster and zebrafish models provide support for a role for 20 candidate genes at 11 of these loci in regulation of heart rate.

    • Marcel den Hoed
    • Mark Eijgelsheim
    • Ruth J F Loos
    Research
    Nature Genetics
    Volume: 45, P: 621-631

  • Andrea Cerase et al. report that the chromatin remodeler Chd8 is a key regulator of mammalian Xist expression and therefore X chromosome inactivation. They find that Chd8 activates Xist expression in embryonic stem cells, while in differentiating cells it acts to prevent spurious Xist expression through blocking transcription factor binding to the Xist promoter.

    • Andrea Cerase
    • Alexander N. Young
    • Philip Avner
    ResearchOpen Access
    Communications Biology
    Volume: 4, P: 1-13