• Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

    13 days ago - By Springer

    Variants in genes encoding nuclear pore complex proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome. Recent reports describing NUP93 variants suggest these could be a significant cause of paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly nephrocyte model.
    Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome were whole exome and/or whole genome sequenced. Patients were screened for over 70...
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