3 results found
    1. Developmental Biology
    2. Genetics and Genomics

    Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism

    Samuel Andrew Malone et al.
    Mouse in vivo and in vitro analysis and human genetic screening highlight the role of anti-Müllerian hormone (AMH) signaling in GnRH neuronal development and function, and identify mutations in AMH and AMHR2 in CHH patients.
    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. Genetics and Genomics
    2. Neuroscience

    CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

    Eric Deneault et al.
    Autism-associated iPSC-derived neurons mutant in CNTN5 or EHMT2 are hyperactive.

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