103 results found
    1. Cell Biology
    2. Genetics and Genomics

    Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution

    Fabrizio Orsenigo et al.
    Single-cell RNA analysis of brain endothelium identifies the angiogenic venous capillary subset and respective resident endothelial progenitors at the origin of CCM lesions, while arterial endothelial cells are unaffected.
    1. Epidemiology and Global Health
    2. Medicine

    A stepped-wedge randomised trial on the impact of early ART initiation on HIV-patients’ economic outcomes in Eswatini

    Janina Isabel Steinert et al.
    A stepped-wedge randomised controlled trial shows that early antiretroviral therapy (ART) initiation does not negatively affect the economic welfare of HIV patients in a low-income country.
    1. Genetics and Genomics
    2. Medicine

    Effects of lifelong testosterone exposure on health and disease using Mendelian randomization

    Pedrum Mohammadi-Shemirani et al.
    Long-term increased testosterone improved body composition and bone density, but lowered HDL and raised risks of hypertension, androgenic alopecia, prostate cancer, and spinal stenosis in males.
    1. Genetics and Genomics
    2. Medicine

    Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

    Chiara Fallerini et al.
    In the context of susceptibility to severe COVID-19, the observations of a study provide the basis for a personalized interferon-based therapy in patients with rare TLR7 variants.
    1. Epidemiology and Global Health

    Differential occupational risks to healthcare workers from SARS-CoV-2 observed during a prospective observational study

    David W Eyre et al.
    Risk factors for SARS-CoV-2 infection in healthcare workers included caring for Covid-19 patients, Black or Asian ethnicity, and Covid-19-positive household contacts, whereas a bundle of PPE-related measures protected ICU staff.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Whole genome comparison of a large collection of mycobacteriophages reveals a continuum of phage genetic diversity

    Welkin H Pope et al.
    A continuum of genome relationships is discovered through comparative genomics of 627 sequenced mycobacteriophages isolated and characterized in an integrated research/education initiative.
    1. Genetics and Genomics
    2. Neuroscience

    Traumatic injury compromises nucleocytoplasmic transport and leads to TDP-43 pathology

    Eric N Anderson et al.
    Traumatic injury leads to functional defects in nucleocytoplasmic transport and TDP-43 pathology in multiple model systems.
    1. Computational and Systems Biology
    2. Evolutionary Biology

    Predictable properties of fitness landscapes induced by adaptational tradeoffs

    Suman G Das et al.
    Adaptational tradeoffs constrain the evolutionary pathways towards antimicrobial resistance, but highly fit mutants are nevertheless likely to arise at any concentration of the drug.
    1. Neuroscience

    Acute cerebellar knockdown of Sgce reproduces salient features of myoclonus-dystonia (DYT11) in mice

    Samantha Washburn et al.
    Acute knock down of Sgce that is mutated in Myoclonus Dystonia (DYT11), in the cerebellum of mice, leads to dystonia and myoclonus-like motor signs that like patients improve with alcohol.
    1. Neuroscience

    Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

    Swagata Ghatak et al.
    Increased excitation and decreased inhibition associated with abnormal neuronal morphology, aberrant ion channel properties, and synaptic dysfunction contribute to hyperexcitability in Alzheimer’s disease hiPSC-derived neuronal cultures and cerebral organoids.

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