2,288 results found
    1. Genetics and Genomics

    Understanding genetic variants in context

    Nasa Sinnott-Armstrong, Stanley Fields ... Christine Queitsch
    Multiplexed assays of variant effect are an increasingly important tool in genetic research and including more context specificity in their design would aid interpretation and discovery.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

    Teresa Romeo Luperchio, Leandros Boukas ... Hans T Bjornsson
    Chromatin/transcriptome profiling in multiple mouse models with mutations in epigenetic machinery (EM) reveals shared abnormalities including many IgA-relevant genes, indicating that this kind of joint analysis may elucidate the multigenic nature of EM disorders.
    1. Genetics and Genomics

    Quantifying concordant genetic effects of de novo mutations on multiple disorders

    Hanmin Guo, Lin Hou ... Qiongshi Lu
    EncoreDNM identifies abundant enrichment correlations across disorders for de novo mutations.
    1. Genetics and Genomics
    2. Neuroscience

    A genomic lifespan program that reorganises the young adult brain is targeted in schizophrenia

    Nathan G Skene, Marcia Roy, Seth GN Grant
    A genetic program controlling brain genes across the lifespan specifies a calendar of changes in cells, synapses and behavioural genes thereby timing the onset of mental illnesses which arise in young adults.
    1. Neuroscience

    Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

    Özgür Genç, Joon-Yong An ... Graeme W Davis
    Forward genetic screens define a novel genetic landscape by which diverse, unrelated autism risk genes may converge to commonly affect the robustness of synaptic transmission.
    1. Neuroscience

    Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment

    Hideo Hagihara, Hirotaka Shoji ... Tsuyoshi Miyakawa
    Brain lactate and pH changes, identified as common features in diverse neuropsychiatric animal models, may represent transdiagnostic endophenotypes associated with cognitive impairment.
    1. Neuroscience

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

    Thomas K Creson, Camilo Rojas ... Gavin Rumbaugh
    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. Neuroscience

    Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

    Swagata Ghatak, Nima Dolatabadi ... Stuart A Lipton
    Increased excitation and decreased inhibition associated with abnormal neuronal morphology, aberrant ion channel properties, and synaptic dysfunction contribute to hyperexcitability in Alzheimer’s disease hiPSC-derived neuronal cultures and cerebral organoids.
    1. Neuroscience

    MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function

    Sameer S Bajikar, Ashley G Anderson ... Huda Y Zoghbi
    Integrated analysis of transcriptional profiles from mice carrying distinct Mecp2 mutant alleles revealed that MeCP2 regulates Gdf11 expression in the brain, and that Gdf11 is a dosage-sensitive gene whose levels impact neuronal function and animal behavior.
    1. Genetics and Genomics
    2. Neuroscience

    The E3 ligase Thin controls homeostatic plasticity through neurotransmitter release repression

    Martin Baccino-Calace, Katharina Schmidt, Martin Müller
    An electrophysiology-based genetic screen in Drosophila identified a role for the E3 ligase Thin in presynaptic homeostatic plasticity.

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