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Showing 1–4 of 4 results
Advanced filters: Author: Natasha Sahgal Clear advanced filters

  • Gilean McVean and colleagues report the results of a large-scale clinical genome sequencing project spanning a broad spectrum of disorders. They identify factors influencing successful genetic diagnosis and highlight the challenges of interpreting findings for genetically heterogeneous disorders.

    • Jenny C Taylor
    • Hilary C Martin
    • Gilean McVean
    Research
    Nature Genetics
    Volume: 47, P: 717-726

  • AMPK regulates cellular energy balance using its γ subunit as an energy sensor of cellular AMP and ADP to ATP ratios. Here, the authors show that γ2 AMPK activation lowers heart rate by reducing the activity of pacemaker cells, whereas loss of γ2 AMPK increases heart rate and prevents the adaptive bradycardia of endurance training in mice.

    • Arash Yavari
    • Mohamed Bellahcene
    • Houman Ashrafian
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-19

  • Macrophages are functionally highly plastic, but the transcriptional control of this process is only partially understood. Udalova and colleagues demonstrate that the transcription factor IRF5 controls the plasticity of M1 macrophages in both mice and humans.

    • Thomas Krausgruber
    • Katrina Blazek
    • Irina A Udalova
    Research
    Nature Immunology
    Volume: 12, P: 231-238

  • Bladder cancer is a complex genetic disease and a common cause of death due to malignancy. Here, the authors carry out whole-genome sequencing of 14 bladder cancers to characterize the genomic landscape of the disease and show that mutational burden is associated with tumour progression in these samples.

    • J. -B. Cazier
    • S. R. Rao
    • F. C. Hamdy
    ResearchOpen Access
    Nature Communications
    Volume: 5, P: 1-13