805 results found
    1. Chromosomes and Gene Expression

    Trisomy 21 consistently activates the interferon response

    Kelly D Sullivan et al.
    Hyperactive interferon signaling is a hallmark of trisomy 21 and may contribute to many of the comorbidities associated with Down syndrome.
    1. Neuroscience

    Alterations of specific cortical GABAergic circuits underlie abnormal network activity in a mouse model of Down syndrome

    Javier Zorrilla de San Martin et al.
    Distinct intrinsic excitability and synaptic dysfunctions in specific cortical inhibitory circuits lead to abnormal network activity in a mouse model of Down syndrome.
    1. Developmental Biology

    Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

    Eva Lana-Elola et al.
    A panel of seven new mouse strains with chromosomal duplications is used to identify a minimal genetic region required in three copies to cause congenital heart defects typical of human Down syndrome.
    1. Neuroscience

    Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

    Matthieu Raveau et al.
    CA1 physiology is altered in the hippocampus of Down syndrome mice during both spatial exploration and rest, paralleled by an increase in populations of interneurons responsible for single cell and network synchronization.
    1. Genetics and Genomics

    A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21

    Yasuhiro Kazuki et al.
    TcMAC21 is an appropriate “next gen” mouse model for DS research, and provides a proof of concept of using artificial chromosomes to generate non-mosaic humanized animal models of chromosome disorders.
    1. Immunology and Inflammation

    Seroconversion stages COVID19 into distinct pathophysiological states

    Matthew D Galbraith et al.
    Stratification of COVID19 patients using quantitative metrics of seroconversion reveals distinct pathophysiological stages after SARS-CoV-2 infection, including key differences in immune cell types, inflammatory makers, and markers of organ function.
    1. Developmental Biology
    2. Neuroscience

    Temporal regulation of axonal repulsion by alternative splicing of a conserved microexon in mammalian Robo1 and Robo2

    Verity Johnson et al.
    ROBO isoforms with minute sequence variations have significant and distinct functions in axon guidance.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Dosage compensation can buffer copy-number variation in wild yeast

    James Hose et al.
    Dosage-compensated gene expression facilitates chromosomal aneuploidy, which presents a rapid route to phenotypic evolution in natural yeast isolates.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi–Goutières syndrome

    Yoong Wearn Lim et al.
    Global epigenetic perturbations and accumulation of RNA:DNA hybrids are two novel hallmarks of the lupus-like inflammatory disorder Aicardi-Goutières syndrome.

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