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575 results found
    1. Genetics and Genomics

    Whole-genome sequencing analysis of semi-supercentenarians

    Paolo Garagnani et al.
    Genetic variants located in DNA repair genes and a reduced burden of somatic mutations protect the oldest living persons from age-related diseases, allowing an healthy aging phenotype.
    1. Chromosomes and Gene Expression

    Defects in translation-dependent quality control pathways lead to convergent molecular and neurodevelopmental pathology

    Markus Terrey et al.
    Disruption of quality control pathways that function at distinct steps to mitigate errors in translation evoke similar cellular responses and pathologies.
    1. Immunology and Inflammation

    Characterization and functional analysis of cathelicidin-MH, a novel frog-derived peptide with anti-septicemic properties

    Jinwei Chai et al.
    The novel cathelicidin cathelicidin-MH was identified from the skin of M. heymonsivogt frog, which protects against lipopolysaccharide- and cecal ligation and puncture-induced sepsis, effectively ameliorates multi-organ pathology, especially in lung.
    1. Structural Biology and Molecular Biophysics

    Cryo-EM structure of the yeast TREX complex and coordination with the SR-like protein Gbp2

    Yihu Xie et al.
    Cryo-EM and chemical cross-linking studies yield an atomic resolution structure of a conserved remodeling machinery in messenger ribonucleoprotein maturation/nuclear export and insights into its coordinated function with a serine–arginine protein.
    1. Cell Biology
    2. Developmental Biology

    The recycling endosome protein Rab25 coordinates collective cell movements in the zebrafish surface epithelium

    Patrick Morley Willoughby et al.
    Rab25a and Rab25b mutant embryos exhibit epithelial spreading delays during morphogenesis and are characterized by cytokinesis defects leading to cell fusions, heterogeneous epithelial cell sizes, and reduced cortical actomyosin contractility.
    1. Cell Biology
    2. Neuroscience

    Systematic functional analysis of rab GTPases reveals limits of neuronal robustness to environmental challenges in flies

    Friederike E Kohrs et al.
    The first complete null mutant collection of all rab GTPase genes in a multicellular organism uncovers neuronal development and function sensitive to environmental challenges in Drosophila.
    1. Chromosomes and Gene Expression
    2. Neuroscience

    A KDM5–Prospero transcriptional axis functions during early neurodevelopment to regulate mushroom body formation

    Hayden AM Hatch et al.
    The histone demethylase KDM5 functions in concert with the transcription factor Prospero to regulate a gene expression program that is required for mushroom body neuroanatomical development.
    1. Medicine

    Applications of genetic-epigenetic tissue mapping for plasma DNA in prenatal testing, transplantation and oncology

    Wanxia Gai et al.
    Epigenetic determination of tissue of origin of genetically classified subsets of plasma DNA molecules enhances transplantation monitoring and cancer testing.
    1. Genetics and Genomics
    2. Medicine

    COVID-19: Rare variants increase the risk of severe COVID-19

    Frank L van de Veerdonk, Mihai G Netea
    Evidence is mounting that rare loss-of-function variants in the TLR7 gene predispose men with no medical history to severe forms of COVID-19.
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