Browse our latest Human Biology and Medicine articles

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    1. Computational and Systems Biology
    2. Human Biology and Medicine

    The MR-Base platform supports systematic causal inference across the human phenome

    Gibran Hemani et al.
    Compiling public datasets into a single, centralised repository and linking directly to analytical software completely transforms the scale and scope of causal inference across the phenome.
    1. Human Biology and Medicine
    2. Neuroscience

    A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

    Poh Hui Chia et al.
    A biallelic missense mutation in the highly conserved, neuron-specific kinase CAMK2A abrogates holoenzyme assembly and causes a new inherited neurodevelopmental disease.
    1. Cancer Biology
    2. Human Biology and Medicine

    MPDZ promotes DLL4-induced Notch signaling during angiogenesis

    Fabian Tetzlaff et al.
    The multiple PDZ domain protein recruits Notch ligands to Nectin-2, which increases Notch signaling activity during angiogenesis.
    1. Human Biology and Medicine
    2. Developmental Biology

    HIF-2α is essential for carotid body development and function

    David Macias et al.
    Genetic and physiological analyses demonstrate the essential role of the transcription factor HIF-2alpha in the sympathetic nervous system control of the ventilatory response to hypoxia.
    1. Human Biology and Medicine

    Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle

    Laurent Perrin et al.
    Rhythmic transcriptome analyses of human skeletal muscle tissue and cultured primary myotubes reveal an essential role for the circadian coordination of glucose homeostasis and lipid metabolism in human skeletal muscle.
    1. Human Biology and Medicine
    2. Neuroscience

    Neurovascular sequestration in paediatric P. falciparum malaria is visible clinically in the retina

    Valentina Barrera et al.
    Clinical, clinicopathological and image data from Malawian children shows that sequestration in P. falciparum cerebral malaria is visible clinically in the eye as orange retinal vessels and is strongly associated with death.
    1. Human Biology and Medicine
    2. Neuroscience

    POMC neurons expressing leptin receptors coordinate metabolic responses to fasting via suppression of leptin levels

    Alexandre Caron et al.
    A subset of hypothalamic POMC neurons that express leptin receptors control metabolic responses to changing energy availability including regulating blood glucose and leptin levels.
    1. Human Biology and Medicine
    2. Neuroscience

    Dopamine-dependent scaling of subthalamic gamma bursts with movement velocity in patients with Parkinson’s disease

    Roxanne Lofredi et al.
    Bradykinesia in Parkinson's disease may be associated to a dopamine-dependent recruitment failure of subthalamic activity in short bursts of gamma synchrony.
    1. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss

    Meritxell Espino Guarch et al.
    SLC7A8 a neutral amino acid transporter has a key role in the maintenance of hearing during aging and its absence causes early onset of hearing loss.
    1. Cell Biology
    2. Human Biology and Medicine

    Automated cell-type classification in intact tissues by single-cell molecular profiling

    Monica Nagendran et al.
    The ability to rapidly stain for any combination of genes in intact tissue with automated quantification of transcripts in individual cells and spatial re-mapping affords new insights into lung biology, and will greatly accelerate progress in scientific and medical research.