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Showing 1–4 of 4 results
Advanced filters: Author: "Kirsten Y. Renkema" Clear advanced filters

  • The genetic background of many kidney diseases is complex and involves multiple genes, genetic variants and molecular pathways. Here, we look at how researchers tackled this challenging topic in 2016, focusing on studies that used ingenious data-integration tactics, which led to new insights into kidney disease aetiology and renal disease progression.

    • Kirsten Y. Renkema
    • Nine V.A.M. Knoers
    News & Views
    Nature Reviews Nephrology
    Volume: 13, P: 67-68

  • The introduction of next-generation sequencing has provided revolutionary opportunities for comprehensive genetic testing in research and diagnostics. Here, the authors discuss approaches used for novel gene identification, the potential of these techniques to improve the management of patients with inherited kidney diseases—focusing on nephronophthisis and congenital anomalies of the kidney and urinary tract—and the remaining challenges for implementation of next-generation sequencing in clinical practice.

    • Kirsten Y. Renkema
    • Marijn F. Stokman
    • Nine V. A. M. Knoers
    Reviews
    Nature Reviews Nephrology
    Volume: 10, P: 433-444

  • Congenital anomalies of the kidney and urinary tract (CAKUT) are a spectrum of renal disorders that commonly cause end-stage renal disease in children, but their genetic basis is largely unknown. In this Review, Nine Knoers et al. discuss the difficulties in identifying the genetic basis of CAKUT, the approaches used to detect genetic variants that confer risk of these anomalies, and the complex interplay between environmental factors, epigenetics, and genetic variants in contributing to the development of these syndromes.

    • Nayia Nicolaou
    • Kirsten Y. Renkema
    • Nine V. A. M. Knoers
    Reviews
    Nature Reviews Nephrology
    Volume: 11, P: 720-731

  • Next-generation sequencing has boosted gene discovery and facilitated the identification of previously unrecognized phenotypes associated with kidney disease genes, leading to reclassification of clinical diagnoses and broadening our understanding of the phenotypic spectrum of classic kidney disease-associated genes. Here, the authors discuss examples of genes and gene categories for which genetic studies have led to an expansion in our understanding of their phenotypic spectrums, both across and within current kidney disease categories.

    • Marijn F. Stokman
    • Kirsten Y. Renkema
    • Albertien M. van Eerde
    Reviews
    Nature Reviews Nephrology
    Volume: 12, P: 472-483