Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

Glenn van de Hoek; Nayia Nicolaou; Rachel H. Giles; Nine V. A. M. Knoers; Kirsten Y. Renkema; Ernie M. H. F. Bongers

doi:10.1159/000369313

Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

Glenn van de Hoek, Nayia Nicolaou, Rachel H. Giles, Nine V. A. M. Knoers, Kirsten Y. Renkema^*, Ernie M. H. F. Bongers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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

Original language	English
Pages (from-to)	62-67
Number of pages	6
Journal	Nephron
Volume	129
Issue number	1
DOIs	https://doi.org/10.1159/000369313
Publication status	Published - 2015

Keywords

CAKUT
Functional characterization
Gene
Kidney
Model system
Mutation
PLURIPOTENT STEM-CELLS
BRANCHING MORPHOGENESIS
IN-VITRO
GENERATION
DISEASE
REGENERATION
AGENESIS
ORIGIN
BUD

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title = "Functional Models for Congenital Anomalies of the Kidney and Urinary Tract",

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",

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author = "{van de Hoek}, Glenn and Nayia Nicolaou and Giles, {Rachel H.} and Knoers, {Nine V. A. M.} and Renkema, {Kirsten Y.} and Bongers, {Ernie M. H. F.}",

year = "2015",

doi = "10.1159/000369313",

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AU - van de Hoek, Glenn

AU - Nicolaou, Nayia

AU - Giles, Rachel H.

AU - Knoers, Nine V. A. M.

AU - Renkema, Kirsten Y.

AU - Bongers, Ernie M. H. F.

PY - 2015

Y1 - 2015

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AB - 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

KW - CAKUT

KW - Functional characterization

KW - Gene

KW - Kidney

KW - Model system

KW - Mutation

KW - PLURIPOTENT STEM-CELLS

KW - BRANCHING MORPHOGENESIS

KW - IN-VITRO

KW - GENERATION

KW - DISEASE

KW - REGENERATION

KW - AGENESIS

KW - ORIGIN

KW - BUD

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SP - 62

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JO - Nephron

JF - Nephron

IS - 1

ER -

Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

Abstract

Keywords

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