Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

被引：5

作者：

van de Hoek, Glenn ^{[1
,2
]}

Nicolaou, Nayia ^{[1
]}

Giles, Rachel H. ^{[2
]}

Knoers, Nine V. A. M. ^{[1
]}

Renkema, Kirsten Y. ^{[1
]}

Bongers, Ernie M. H. F. ^{[3
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Med Genet, Ctr Mol Med, NL-3508 AB Utrecht, Netherlands

[2] Univ Med Ctr Utrecht, Dept Hypertens & Nephrol, NL-3508 AB Utrecht, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

来源：

NEPHRON | 2015年 / 129卷 / 01期

关键词：

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

D O I：

10.1159/000369313

中图分类号：

R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];

学科分类号：

1002 ; 100201 ;

摘要：

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

引用

页码：62 / 67

页数：6

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