897 results found
    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. 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. 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. Developmental Biology

    Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion

    Holly Hardy et al.
    Chick optic fissure closure is a powerful new model system for epithelial fusion and has revealed Netrin-1 as a conserved and essential mediator of tissue fusion in multiple contexts.
    1. Medicine
    2. Immunology and Inflammation

    Chronic muscle weakness and mitochondrial dysfunction in the absence of sustained atrophy in a preclinical sepsis model

    Allison M Owen et al.
    Sepsis-induced long-term muscle weakness was reproduced using a refined murine model, which was accompanied by mitochondrial dysfunction in the absence of sustained atrophy, suggesting the promise of mitochondria-targeted post-sepsis therapies.
    1. Genetics and Genomics

    Genetic and environmental perturbations lead to regulatory decoherence

    Amanda Lea et al.
    Infection and metabolic syndrome lead to a loss of molecular regulation, and changes in molecular correlations are under genetic control as revealed by the presence of correlation quantitative trait loci.
    1. Chromosomes and Gene Expression
    2. Stem Cells and Regenerative Medicine

    Functional evidence implicating chromosome 7q22 haploinsufficiency in myelodysplastic syndrome pathogenesis

    Jasmine C Wong et al.
    Immature hematopoietic cells from mice with a large segmental deletion found in human myeloid malignancies exhibit cardinal features of myelodysplastic syndrome.

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