614 results found
    1. Evolutionary Biology

    Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants

    Chenlu Di et al.
    Harmful genetic variants at mendelian disease genes slow down adaptation, by interfering with the spread of adaptive variants in a population.
    1. Immunology and Inflammation

    Microglia and CD206+ border-associated mouse macrophages maintain their embryonic origin during Alzheimer’s disease

    Xiaoting Wu et al.
    Inducible fate-mapping analysis demonstrates that neither microglia, CD11c+ activated microglia nor border-associated macrophages are replenished by bone marrow-derived cells in Alzheimer’s disease.
    1. Chromosomes and Gene Expression
    2. Developmental Biology

    An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development

    Benoit Roch et al.
    A viable separation of function XRCC4 knock-in mutant mouse model recapitulates some aspects of XRCC4 deficiency in humans, notably the absence of immune deficiency.
    1. Cell Biology
    2. Neuroscience

    The LRRK2 G2019S mutation alters astrocyte-to-neuron communication via extracellular vesicles and induces neuron atrophy in a human iPSC-derived model of Parkinson’s disease

    Aurelie de Rus Jacquet et al.
    Extracellular vesicles are proposed as novel, non-cell-autonomous mediators of neuronal atrophy in Parkinson's disease.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Local adaptation and archaic introgression shape global diversity at human structural variant loci

    Stephanie M Yan et al.
    Graph genotyping of structural variation in diverse human populations reveals functional associations and signatures of local adaptation within poorly resolved regions of the genome.
    1. Cancer Biology
    2. Medicine

    Mutation analysis links angioimmunoblastic T-cell lymphoma to clonal hematopoiesis and smoking

    Shuhua Cheng et al.
    Comparative analysis establishes genetic links among angioimmunoblastic T-cell lymphoma (AITL), clonal hematopoiesis, and concomitant hematologic malignancies, and provides insights into the cell of origin, etiology, and biomarker discovery for AITL.
    1. Evolutionary Biology
    2. Medicine

    APOE4 is associated with elevated blood lipids and lower levels of innate immune biomarkers in a tropical Amerindian subsistence population

    Angela R Garcia et al.
    The relationship between APOE genotype and disease risks may be environmentally moderated, with APOE4 being less harmful and unlikely to increase cardiometabolic risk in a physically active, energy-limited population.
    1. Cancer Biology

    Innate immune activation by checkpoint inhibition in human patient-derived lung cancer tissues

    Teresa WM Fan et al.
    Pembrolizumab activates innate immune metabolism and function in primary human non-small cell lung cancer, whereas Pembrolizumab and beta-glucan synergize in enhancing immune metabolism and tumoridical action in brain-metastasized lung cancer.
    1. Structural Biology and Molecular Biophysics

    Structural insights into the activation of human calcium-sensing receptor

    Xiaochen Chen et al.
    The cryo-electron microscopy structures of inactive and active states of calcium-sensing receptor (CaSR) reveal the activation mechanisms of CaSR.

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