Functional Models for Congenital Anomalies of the Kidney and Urinary Tract
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Publication date
2015
Authors
van de Hoek, Glenn
Nicolaou, Nayia
Giles, Rachel H.
Knoers, N. V A M
Renkema, K. Y.
Bongers, Ernie M. H. F.
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Article
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taverne
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most common developmental diseases in humans; however, the cause for most patients remains unknown. Efforts to identify novel genetic causes for CAKUT through next-generation sequencing techniques have led to the discovery of new genes and risk factors. Concomitantly, these same efforts have generated large gene candidate lists requiring individual functional characterization. Appropriate model systems are needed to assess the functionality of genes and pathogenicity of genetic variants discovered in CAKUT patients. In this review, we discuss how cellular, animal, and personal (human) models are being used to study CAKUT candidate genes and what their major advantages and disadvantages are with respect to relevance and throughput. (C) 2014 S. Karger AG, Basel
Keywords
CAKUT, Functional characterization, Gene, Kidney, Model system, Mutation, PLURIPOTENT STEM-CELLS, BRANCHING MORPHOGENESIS, IN-VITRO, GENERATION, DISEASE, REGENERATION, AGENESIS, ORIGIN, BUD, Taverne
Citation
van de Hoek, G, Nicolaou, N, Giles, R H, Knoers, N V A M, Renkema, K Y & Bongers, E M H F 2015, 'Functional Models for Congenital Anomalies of the Kidney and Urinary Tract', Nephron, vol. 129, no. 1, pp. 62-67. https://doi.org/10.1159/000369313