292 results found
    1. Neuroscience

    MEF2C regulates cortical inhibitory and excitatory synapses and behaviors relevant to neurodevelopmental disorders

    Adam J Harrington et al.
    Mice that lack the autism- and schizophrenia-linked gene MEF2C in cortical neurons have an imbalance of excitatory and inhibitory synapses, and impaired social and cognitive abilities.
    1. Genetics and Genomics
    2. Stem Cells and Regenerative Medicine

    The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders

    Cheen Euong Ang et al.
    lnc-Nr2f1, a long non-coding RNA focally deleted in autism patients, directly occupies and regulates neuronal genes.
    1. Neuroscience
    2. Medicine

    Intrinsic excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic men versus women

    Stavros Trakoshis et al.
    Excitation-inhibition imbalance affects medial prefrontal cortex differently in autistic males versus females.
    1. Neuroscience

    Role of matrix metalloproteinase-9 in neurodevelopmental deficits and experience-dependent plasticity in Xenopus laevis

    Sayali V Gore et al.
    Chronic dysregulation of matrix-metalloproteinase 9, which is associated with some neurodevelopmental disorders, leads to local hyperconnectivity in the developing brain, resulting in altered sensory processing and increased seizure susceptibility.
    1. Neuroscience

    Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

    Thomas K Creson et al.
    Severe neurodevelopmental disorder risk gene functions are retained into adulthood and they contribute to disease phenotypes, indicating that these patients may respond to treatments throughout life.
    1. Developmental Biology
    2. Neuroscience

    Foxc1 dependent mesenchymal signalling drives embryonic cerebellar growth

    Parthiv Haldipur et al.
    The mesenchyme surrounding the developing brain plays a significant role in controlling the fundamental growth and patterning of the cerebellum, and misregulation of this signalling can lead to important neurodevelopmental disorders.
    1. Neuroscience

    Microglia contribute to circuit defects in Mecp2 null mice independent of microglia-specific loss of Mecp2 expression

    Dorothy P Schafer et al.
    In mouse models of Rett Syndrome, global loss of the Mecp2 gene induces microglia to engulf excess synapses, while microglia-specific loss or gain of Mecp2 has little impact on disease.
    1. Neuroscience
    2. Stem Cells and Regenerative Medicine

    mTOR signaling regulates the morphology and migration of outer radial glia in developing human cortex

    Madeline G Andrews et al.
    mTOR signaling regulates the morphology of a human-enriched neural stem cell population and thus contributes to the radial architecture of the developing human cortex with implications for neurodevelopmental disease.
    1. Neuroscience

    Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome

    Kevin M Goff, Ethan M Goldberg
    Vasoactive intestinal peptide-expressing GABAergic interneurons in cerebral cortex express the sodium channel subunit Nav1.1, and a defined subset of VIP interneurons are dysfunctional in a mouse model of Dravet syndrome.
    1. Genetics and Genomics
    2. Medicine

    KDM5A mutations identified in autism spectrum disorder using forward genetics

    Lauretta El Hayek et al.
    Successful autism spectrum disorder gene discovery using forward genetics identifies KDM5A, which encodes a histone H3 lysine 4 demethylase, as a disease gene.

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