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Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract

Authors
 Keum Hwa Lee  ;  Heon Yung Gee  ;  Jae Il Shin 
Citation
 Investigative and Clinical Urology, Vol.58(Suppl. 1) : S4-S13, 2017 
Journal Title
 Investigative and Clinical Urology 
ISSN
 2466-0493 
Issue Date
2017
MeSH
Congenital Abnormalities/genetics ; Humans ; Kidney/abnormalities ; Kidney/embryology ; Urinary Tract/abnormalities* ; Urinary Tract/embryology* ; Vesico-Ureteral Reflux/genetics*
Keywords
Congenital anomalies of the kidney and urinary tract ; Genetic association studies ; Organogenesis ; Vesicoureteral reflux
Abstract
The definition of congenital anomalies of the kidney and urinary tract (CAKUT) is the disease of structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux (VUR). These anomalies can cause pediatric chronic kidney disease. However, the pathogenesis of CAKUT is not well understood, because identifying the genetic architecture of CAKUT is difficult due to the phenotypic heterogeneity and multifactorial genetic penetrance. We describe the current genetic basis and mechanisms of CAKUT including VUR via approaching the steps and signaling pathways of kidney developmental processes. We also focus on the newly developed strategies and challenges to fully address the role of the associated genes in the pathogenesis of the disease.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161005
Files in This Item:
T201703890.pdf Download
DOI
10.4111/icu.2017.58.S1.S4
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
Yonsei Authors
신재일(Shin, Jae Il) ORCID logo https://orcid.org/0000-0003-2326-1820
이금화(Lee, Keum Hwa)
지헌영(Gee, Heon Yung) ORCID logo https://orcid.org/0000-0002-8741-6177
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