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Showing 1–2 of 2 results
Advanced filters: Author: Oraly Sanchez-Ferras Clear advanced filters

  • Nephric duct (ND)-derived ureteric buds (UB) form the kidney collecting duct system, while ureteric tips promote nephron formation. Here the authors use single-cell RNA-seq and introduce Cluster RNA-seq to identify four progenitor populations in developing ND/UB regulated by the transcription factors Tfap2a/b and Gata3.

    • Oraly Sanchez-Ferras
    • Alain Pacis
    • Maxime Bouchard
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-16

  • Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP, TP53RK, TPRKB and LAGE3, genes encoding KEOPS-complex subunits, cause Galloway–Mowat syndrome, a recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Functional studies suggest that the phenotypes result from impaired protein translation, thus leading to endoplasmic reticulum stress and apoptosis.

    • Daniela A Braun
    • Jia Rao
    • Friedhelm Hildebrandt
    Research
    Nature Genetics
    Volume: 49, P: 1529-1538