Ontology highlight
ABSTRACT:
SUBMITTER: Wang H
PROVIDER: S-EPMC5821045 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
International journal of biological sciences 20180101 1
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common developmental defects in humans. Despite of several known CAKUT-related loci (<i>HNF1B</i>, <i>PAX2</i>, <i>EYA1</i>, etc.), the genetic etiology of CAKUT remains to be elucidated for most patients. In this study, we report that disruption of the Holliday Junction resolvase gene <i>Gen1</i> leads to renal agenesis, duplex kidney, hydronephrosis, and vesicoureteral reflux (VUR) in mice. GEN1 interacts with SIX1 ...[more]