754 results found
    1. Cell Biology

    A MET-PTPRK kinase-phosphatase rheostat controls ZNRF3 and Wnt signaling

    Minseong Kim et al.
    HGF-MET signaling phosphorylates- and PTPRK dephosphorylates ZNRF3 to regulate ZNRF3 internalization, functioning as a rheostat for Wnt signaling.
    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. Genetics and Genomics

    Utility of polygenic embryo screening for disease depends on the selection strategy

    Todd Lencz et al.
    Preimplantation screening of embryos using polygenic risk scores may substantially reduce risk for a given complex disease, but this effect depends on several quantifiable factors and raises significant ethical issues.
    1. Evolutionary Biology
    2. Microbiology and Infectious Disease

    Common host variation drives malaria parasite fitness in healthy human red cells

    Emily R Ebel et al.
    Human red blood cells from healthy donors display marked biophysical and genetic variation that impacts the growth of Plasmodium falciparum malaria parasites, outside of known disease alleles.
    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. Neuroscience

    Activation of mTORC1 and c-Jun by Prohibitin1 loss in Schwann cells may link mitochondrial dysfunction to demyelination

    Gustavo Della-Flora Nunes et al.
    mTORC1 and c-Jun are implicated in a possible mechanism causing myelin loss downstream of mitochondrial dysfunction in Schwann cells.
    1. Genetics and Genomics

    Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

    Rahul Gupta et al.
    Although cellular organelles show a functional deterioration in aging, genetic loci associated with common age-associated disease instead nominate nuclear transcription factors across several age-related diseases.
    1. Cancer Biology
    2. Chromosomes and Gene Expression

    YAP and TAZ are transcriptional co-activators of AP-1 proteins and STAT3 during breast cellular transformation

    Lizhi He et al.
    YAP and TAZ, the ultimate targets of the Hippo signaling pathway, are transcriptional co-activators of AP-1 proteins and STAT3 through which they are important for breast cellular transformation.
    1. Chromosomes and Gene Expression
    2. Structural Biology and Molecular Biophysics

    Structure and dynamics of the chromatin remodeler ALC1 bound to a PARylated nucleosome

    Luka Bacic et al.
    Analysis of conformational heterogeneity in cryo-EM data by a recently developed deep learning method reveals the structure and dynamics of the oncogenic chromatin remodeler ALC1 bound to a poly-ADP-ribosylated nucleosome.

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