57 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. Cell Biology
    2. Chromosomes and Gene Expression

    Chromosome mis-segregation and cytokinesis failure in trisomic human cells

    Joshua M Nicholson et al.
    Aneuploidy can cause chromosome mis-segregation and specific cellular phenotypes driven by expression of genes on the extra chromosome.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    The asymmetry of female meiosis reduces the frequency of inheritance of unpaired chromosomes

    Daniel B Cortes et al.
    Female meiotic spindles correct trisomy by expelling extra chromosomes into the first polar body.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Aneuploidy as a cause of impaired chromatin silencing and mating-type specification in budding yeast

    Wahid A Mulla et al.
    Genetic analyses reveal that purely quantitative changes in the relative copy number of chromosomes can be sufficient to disrupt the epigenetic mechanisms that define the cells' differentiated state.
    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. 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. Cell Biology
    2. Genetics and Genomics

    Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

    Maja Kneissig et al.
    A method to generate human cells with massive chromosomal aberrations on a specific chromosome allows analysis of their consequences.
    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. Evolutionary Biology

    Tumor evolutionary directed graphs and the history of chronic lymphocytic leukemia

    Jiguang Wang et al.
    A general framework captures the evolutionary routes leading to the formation and progression of tumors.
    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.

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