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Showing 1–2 of 2 results
Advanced filters: Author: "Neveen A Soliman" Clear advanced filters

  • Nephrophthisis (NPH) is a common manifestation of ciliopathy diseases. Here the authors identify mutations in intraflagellar transport 54 (IFT54) in patients with NPH and discover an extra-ciliary role for IFT54 in regulating cytoplasmic microtubule dynamics, that contributes to the pathophysiology of this disease.

    • Albane A. Bizet
    • Anita Becker-Heck
    • Sophie Saunier
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-14

  • Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in ANKS6 cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a protein module that includes INVS (NPHP2), NPHP3 and NEK8 (NPHP9).

    • Sylvia Hoff
    • Jan Halbritter
    • Soeren S Lienkamp
    Research
    Nature Genetics
    Volume: 45, P: 951-956