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Showing 1–5 of 5 results
Advanced filters: Author: Sarah A. Howles 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

  • Kidney stones form in the presence of overabundance of crystal-forming substances such as Ca2+ and oxalate. Here, the authors report genome-wide association analyses for kidney stone disease, report seven previously unknown loci and find that some of these loci also associate with Ca2+ concentration and excretion.

    • Sarah A. Howles
    • Akira Wiberg
    • Dominic Furniss
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-10

  • Rajesh Thakker and colleagues show that missense mutations affecting codon 15 of AP2S1 cause familial hypocalciuric hypercalcemia type 3, a disorder of calcium homeostasis. AP2S1 encodes a protein involved in clathrin-mediated endocytosis, and the mutations probably cause disease by disrupting internalization of the calcium-sensing receptor CaSR.

    • M Andrew Nesbit
    • Fadil M Hannan
    • Rajesh V Thakker
    Research
    Nature Genetics
    Volume: 45, P: 93-97

  • Kidney stone disease is common and can be associated with alterations in urinary solute composition. Here, the authors outline general approaches for stone prevention, describe current understanding of the genetic influences underlying kidney stone formation and discuss the implications of a correct diagnosis for the clinical management of recurrent stone formers.

    • Sarah A. Howles
    • Rajesh V. Thakker
    Reviews
    Nature Reviews Urology
    Volume: 17, P: 407-421