{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:28:39Z","timestamp":1777552119796,"version":"3.51.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["DNA and Cell Biology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>\n                    Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end-stage renal disease in children. Our group has discovered that Holliday Junction resolvase gene\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    is a potential candidate gene for CAKUT.\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutant mice showed CAKUT phenotypes similar to those observed in retinoic acid (RA)-deficient models. The expression of Raldh2, which encodes the key enzyme in RA synthesis, was reduced in\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutant metanephros through RNA sequencing. By real-time reverse transcription-PCR, the expression of both Raldh2 and downstream Ret was reduced in embryonic day (E) 11.5\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutant ureters and E13.5 kidneys, and expression of RA receptor alpha was decreased in E13.5\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutant ureters and kidneys. Further studies showed that all-trans retinoic acid (ATRA) rescued solitary kidney phenotype and improved ureteric branching; ATRA should be administered after ureteric budding to avoid increasing the incidence of ectopic budding in\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutants. Luciferase intensity of RA response element was lower in CHO-K1 cells transfected with Gen1 siRNA than in those transfected with scrambled RNA, and this inhibitory effect could be reversed by ATRA. These findings indicate that\n                    <jats:italic toggle=\"yes\">Gen1<\/jats:italic>\n                    mutation can result in renal malformation through RA signaling and Gen1-loss-induced CAKUT can be partly rescued by ATRA.\n                  <\/jats:p>","DOI":"10.1089\/dna.2018.4426","type":"journal-article","created":{"date-parts":[[2019,1,11]],"date-time":"2019-01-11T11:23:16Z","timestamp":1547205796000},"page":"263-271","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Gen1 Modulates Metanephric Morphology Through Retinoic Acid Signaling"],"prefix":"10.1177","volume":"38","author":[{"given":"Ya","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaowen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Herui","family":"Wang","sequence":"additional","affiliation":[{"name":"Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China."},{"name":"State Key Laboratory of Genetic Engineering and National Center for International Research of Development and Disease, Institute of Developmental Biology and Molecular Medicine, Collaborative Innovation Center of Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Fudan University, Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, 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