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Showing 1–11 of 11 results
Advanced filters: Author: Robert Kleta Clear advanced filters

  • A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.

    • Valentina Cipriani
    • Letizia Vestito
    • Damian Smedley
    ResearchOpen Access
    Nature
    P: 1-9

  • Membranous nephropathy (MN) is a rare autoimmune disease of podocyte-directed antibodies, such as anti-phospholipase A2 receptor. Here, the authors report a genome-wide association study for MN and identify two previously unreported loci encompassing the NFKB1 and IRF4 genes and additional ancestry-specific effects.

    • Jingyuan Xie
    • Lili Liu
    • Krzysztof Kiryluk
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-18

  • Charlotte Sumner and colleagues report that mutations in the ankyrin repeat region of TRPV4 cause Charcot-Marie-Tooth disease type 2C. Their functional studies indicate that the mutations result in increased channel activity.

    • Guida Landouré
    • Anselm A Zdebik
    • Charlotte J Sumner
    Research
    Nature Genetics
    Volume: 42, P: 170-174

  • A new study shows that Slc26a6-null mice manifest calcium-oxalate nephrolithiasis accompanied by enhanced net intestinal oxalate absorption. These findings point to a critical role for Slc26a6 in gastrointestinal oxalate secretion and suggest a genetic explanation for a common form of renal stone disease in humans.

    • Robert Kleta
    News & Views
    Nature Genetics
    Volume: 38, P: 403-404

  • In this Review, the authors discuss the molecular and cellular mechanisms by which pathogenic variants in various genes cause distal renal tubular acidosis with renal and extrarenal manifestations. They also discuss acquired and incomplete forms of distal renal tubular acidosis.

    • Carsten A. Wagner
    • Robert Unwin
    • Stephen Walsh
    Reviews
    Nature Reviews Nephrology
    Volume: 19, P: 384-400

    • Detlef Bockenhauer
    • Robert Kleta
    News
    European Journal of Human Genetics
    Volume: 25, P: 161