1,176 results found
    1. Developmental Biology
    2. Medicine

    CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

    Hironobu Okuno et al.
    Neural crest cells differentiated from patient-derived cells with mutations in the chromatin remodeler CHD7 show defective delamination, migration and motility in vitro, and defective migration in chick embryos.
    1. Developmental Biology

    Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome

    Tian Yu et al.
    Mutations in CHD7, which cause CHARGE syndrome, cause a reduction in FGF8 signalling and subsequent abnormalities in the cerebellar vermis in both mice and humans.
    1. Structural Biology and Molecular Biophysics
    2. Chromosomes and Gene Expression

    The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome

    Kathleen L McCann et al.
    A single missense mutation in an RNA recognition motif within a nucleolar protein disrupts ribosome assembly and contributes to human pathology.
    1. Neuroscience

    Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity

    Amy E Pohodich et al.
    Forniceal deep brain stimulation is a promising treatment for several neuropsychiatric disorders as it upregulates synaptic and neurogenesis-associated genes, normalizes genes misregulated in Rett syndrome mice, and regulates genes altered in intellectual disability and major depression.
    1. Medicine
    2. Immunology and Inflammation

    Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq

    Sara E Vazquez et al.
    Humans with mutations in the AIRE gene exhibit common autoantibodies targeting ovarian and intestinal antigens, including intestinal dysfunction-associated antibodies to enteroendocrine transcription factor RFX6.
    1. Neuroscience

    Beyond excitation/inhibition imbalance in multidimensional models of neural circuit changes in brain disorders

    Cian O'Donnell et al.
    Computational modeling and analysis of mouse neural population data finds that the excitation/inhibition imbalance theory of brain disorders is too limited to account for key changes in neural activity statistics.
    1. Developmental Biology

    Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis

    Neus Martínez-Abadías et al.
    Quantitative analyses associating the morphology of developing organs with dynamic gene expression patterns can reveal biological phenomena that cause malformations and malfunction but remain elusive to traditional qualitative assessments.
    1. Medicine

    Loss of the melanocortin-4 receptor in mice causes dilated cardiomyopathy

    Michael J Litt et al.
    The melanocortin-4 receptor knockout mouse exhibits a cardiomyopathy syndrome, which raises concerns about cardiovascular function in patients with the similar loss of function mutations, and perhaps even in the 1 in 1500 patients with heterozygous loss of the gene.
    1. Neuroscience

    Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

    Cemre Celen et al.
    Mirroring human patients with ARID1B mutations, Arid1b haploinsufficient mice exhibited numerous neuropsychiatric defects and revealed IGF1 deficiency related growth impairment that could be ameliorated with growth hormone supplementation.

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