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Showing 1–4 of 4 results
Advanced filters: Author: Hartmut P.H. Neumann Clear advanced filters

  • Sporadic and hereditary forms of renal cell carcinoma, von Hippel–Lindau (VHL) disease and the familial paraganglioma syndromes are closely related in terms of their clinical and molecular genetic aspects. In this Review, the authors discuss pathogenesis, treatment and preventive strategies for VHL disease, VHL-disease-specific renal lesions, and familial paraganglioma syndromes.

    • Birke Bausch
    • Cordula Jilg
    • Hartmut P. H. Neumann
    Reviews
    Nature Reviews Nephrology
    Volume: 9, P: 529-538

  • Friedhelm Hildebrandt and colleagues combine homozygosity mapping with candidate exome capture and high-throughput sequencing to identify SDCCAG8 mutations as the cause of a retinal-renal ciliopathy. They further show that SDCCAG8 localizes to centrioles and that its depletion causes renal cysts and cell polarity defects.

    • Edgar A Otto
    • Toby W Hurd
    • Friedhelm Hildebrandt
    Research
    Nature Genetics
    Volume: 42, P: 840-850

  • Binding of bacterial peptidoglycan muramyl dipeptides induces NOD2 activation and signalling via the downstream adaptor kinase RIP2. Here the authors show that RIP2 forms filaments via its CARD domain, analyse the structure of the CARD filaments and demonstrate the requirement of RIP2 polymerisation for the activation of NF-κB by NOD2.

    • Erika Pellegrini
    • Ambroise Desfosses
    • Stephen Cusack
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-19