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Showing 1–4 of 4 results
Advanced filters: Author: "Corinne Antignac" Clear advanced filters

  • 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

  • Kálmán Tory, Corinne Antignac and colleagues report that a variant of NPHS2, encoding p.Arg229Gln, causes nephrotic syndrome only when present in trans with particular mutations in the 3′ coding region of NPHS2. Mechanistically, the authors show that these 3′ mutations behave as recessive alleles when present with wild-type NPHS2 but exert a dominant-negative effect on the p.Arg229Gln variant, resulting in protein mislocalization.

    • Kálmán Tory
    • Dóra K Menyhárd
    • Corinne Antignac
    Research
    Nature Genetics
    Volume: 46, P: 299-304

  • Although living donor kidney transplantation is often presented as the best option for patients awaiting renal transplantation, patients whose renal failure is the result of an inherited disease might not be suitable candidates for transplantation from a living related donor. In this Review, Patrick Niaudet discusses hereditary nephropathies for which living donor kidney transplantation is a viable option as well as diseases for which living donor transplantation is contraindicated.

    • Patrick Niaudet
    Reviews
    Nature Reviews Nephrology
    Volume: 6, P: 736-743