5,410 results found
    1. Neuroscience

    Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

    Achira Roy et al.
    Acute one-hour treatment of Pik3ca mutant mice with a novel anti-epilepsy drug suppresses seizures despite continued developmental brain dysmorphology, promising a new therapeutic strategy for patients with intractable pediatric epilepsy.
    1. Developmental Biology
    2. Neuroscience

    TorsinB overexpression prevents abnormal twisting in DYT1 dystonia mouse models

    Jay Li et al.
    Enhancing levels of the torsinA paralog torsinB prevents essentially all torsinA loss-of-function neuropathological and behavioral phenotypes, identifying torsinB as a novel therapeutic target for DYT1 dystonia.
    1. Neuroscience

    Eco-HAB as a fully automated and ecologically relevant assessment of social impairments in mouse models of autism

    Alicja Puścian et al.
    An innovative, fully computerized approach for measuring spontaneous social behavior in mice closely follows murine ethology, eliminates crucial sources of data irreproducibility and enables fast, inexpensive assessment of sociability in group-housed subjects.
    1. Developmental Biology
    2. Chromosomes and Gene Expression

    Multiple knockout mouse models reveal lincRNAs are required for life and brain development

    Martin Sauvageau et al.
    Long intergenic noncoding RNA molecules (lincRNAs) are shown to have critical roles in mammalian development and physiology in vivo.
    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. Cell Biology

    The DWORF micropeptide enhances contractility and prevents heart failure in a mouse model of dilated cardiomyopathy

    Catherine A Makarewich et al.
    Cardiac-specific overexpression of a recently discovered micropeptide, DWORF, enhances calcium cycling and contractility in the heart and rescues the heart failure phenotype of a genetic mouse model of dilated cardiomyopathy.
    1. Immunology and Inflammation
    2. Neuroscience

    Re-evaluation of neuronal P2X7 expression using novel mouse models and a P2X7-specific nanobody

    Karina Kaczmarek-Hajek et al.
    A novel BAC transgenic mouse model reveals glial restriction of P2X7 expression in the central and peripheral nervous systems.
    1. Neuroscience

    Impaired spatial memory codes in a mouse model of Rett syndrome

    Sara E Kee et al.
    Hypersynchrony in a mouse model of Rett syndrome impairs ripple-dependent memory consolidation and leads to a decrease in experience-dependent refinement of place cell activities.
    1. Neuroscience

    Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis

    Benedikt Grünewald et al.
    Impaired GABAergic and glutamatergic synaptic function and loss of interneurons in the amygdala, hippocampus, and cerebellum cause characteristic disease symptoms in a mouse model juvenile neuronal ceroid lipofuscinosis.
    1. Cancer Biology

    A polymorphism in the tumor suppressor p53 affects aging and longevity in mouse models

    Yuhan Zhao et al.
    A mouse model reveals that a p53 SNP impacts longevity via modulating the balance of cancer risk and the self-renewal function of stem/progenitor cells, which supports a role of p53 in regulation of longevity.

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