4 results found
    1. Developmental Biology
    2. Human Biology and Medicine

    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

    Louise A Stephen et al.
    Mutations in KIAA0586 (TALPID3) cause a severe ciliopathy called Joubert syndrome that affects organ, cell and centrosome polarity.
    1. Cell Biology

    Tethering of an E3 ligase by PCM1 regulates the abundance of centrosomal KIAA0586/Talpid3 and promotes ciliogenesis

    Lei Wang et al.
    Ciliogenesis is regulated by a certain group of centriolar satellite proteins, among which an E3 ligase is tethered by PCM1 to maintain the normal level of pro-ciliogenic protein on centrioles.
    1. Developmental Biology
    2. Human Biology and Medicine

    Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

    Susanne Roosing et al.
    A supervised learning approach on a high-content genome-wide siRNA screen has identified 591 likely candidates for ciliopathies and facilitated in the discovery of KIAA0586 mutations in individuals with Joubert syndrome.
    1. Evolutionary Biology

    Subterranean mammals show convergent regression in ocular genes and enhancers, along with adaptation to tunneling

    Raghavendran Partha et al.
    Repeated evolution of eye regression in subterranean mammals helps identify genes and regulatory elements involved in visual perception and development of the eye, and predicts candidate sequences with a potential role in ocular disorders.

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