67 results found
    1. Neuroscience

    Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains

    Diane M Bushman et al.
    Somatically derived genomic mosaicism in the form of increased DNA content and APP copy number in single neurons plausibly has a function in sporadic Alzheimer’s disease and points to functions for single-neuron gene copy number changes.
    1. Neuroscience

    Resolving rates of mutation in the brain using single-neuron genomics

    Gilad D Evrony et al.
    The reanalysis of data from a recent study that claimed retrotransposon mutations are ubiquitous in the human brain outlines a general framework for the design and analysis of single-cell genomics studies.
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Neuroscience

    Reconstruction of natural images from responses of primate retinal ganglion cells

    Nora Brackbill et al.
    The visual message conveyed by retinal neurons to the brain when signaling natural scenes resembles the individual receptive fields only when viewed in context of the neuronal population.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al.
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    1. Genetics and Genomics

    A confinable home-and-rescue gene drive for population modification

    Nikolay P Kandul et al.
    Generation of a home-and-rescue gene drive targeting an essential gene reveals confinable population modification.
    1. Neuroscience

    Formation of retinal direction-selective circuitry initiated by starburst amacrine cell homotypic contact

    Thomas A Ray et al.
    Selective synapse formation in a retinal motion-sensitive circuit is orchestrated by starburst amacrine cells, which use homotypic interactions to initiate formation of a dendritic scaffold that recruits projections from circuit partners.
    1. Developmental Biology
    2. Evolutionary Biology

    Cortex cis-regulatory switches establish scale colour identity and pattern diversity in Heliconius

    Luca Livraghi et al.
    The evolution of a butterfly mimetic phenotype is driven by modular cis-regulstory switches controlling a ‘hotspot’ gene.
    1. Epidemiology and Global Health

    Development of a confinable gene drive system in the human disease vector Aedes aegypti

    Ming Li et al.
    Highly efficient and confinable split gene drives are a new tool for the control of the dengue mosquito vector.
    1. Developmental Biology

    Regulation of posterior body and epidermal morphogenesis in zebrafish by localized Yap1 and Wwtr1

    David Kimelman et al.
    Analysis of a double mutant in the Hippo pathway transcription factors Yap1 and Wwtr1 reveals novel roles for these factors in posterior body formation and epidermal morphogenesis in the vertebrate embryo.

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