{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T16:43:02Z","timestamp":1792687382959,"version":"4.5.0"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T00:00:00Z","timestamp":1706659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009988","name":"Huzhou Municipal Science and Technology Bureau","doi-asserted-by":"publisher","award":["2021GZ70"],"award-info":[{"award-number":["2021GZ70"]}],"id":[{"id":"10.13039\/501100009988","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017677","name":"Chuzhou Science and Technology Program","doi-asserted-by":"publisher","award":["2022GY10"],"award-info":[{"award-number":["2022GY10"]}],"id":[{"id":"10.13039\/501100017677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","goldjournal.net","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Urology"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1016\/j.urology.2024.01.007","type":"journal-article","created":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T18:48:00Z","timestamp":1706813280000},"page":"49-53","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Renal Hypodysplasia\/Aplasia 3 Caused by a Rare Variant of GREB1L With Incomplete Penetrance in a Chinese Family"],"prefix":"10.1016","volume":"185","author":[{"given":"Lihong","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guosong","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingsong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufei","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Yao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongying","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangping","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.urology.2024.01.007_bib1","doi-asserted-by":"crossref","DOI":"10.1186\/s40348-021-00112-0","article-title":"Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT)","volume":"8","author":"Kohl","year":"2021","journal-title":"Mol Cell Pediatr"},{"key":"10.1016\/j.urology.2024.01.007_bib2","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1002\/pd.5536","article-title":"Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)","volume":"39","author":"Talati","year":"2019","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.urology.2024.01.007_bib3","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.2017121265","article-title":"Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract","volume":"29","author":"van der Ven","year":"2018","journal-title":"J Am Soc Nephrol"},{"key":"10.1016\/j.urology.2024.01.007_bib4","doi-asserted-by":"crossref","first-page":"1243504","DOI":"10.3389\/fped.2023.1243504","article-title":"Fetal renal cystic disease and post-natal follow up-a single center experience","volume":"11","author":"Botero-Calderon","year":"2023","journal-title":"Front Pediatr"},{"key":"10.1016\/j.urology.2024.01.007_bib5","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1038\/s41431-023-01331-x","article-title":"Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience","volume":"31","author":"Riedhammer","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.urology.2024.01.007_bib6","unstructured":"Riedhammer, K.M., T.T. Nguyen, C. Ko\u015fukcu, et al. Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT). medRxiv, 2023."},{"key":"10.1016\/j.urology.2024.01.007_bib7","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02553-w","article-title":"A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia\/aplasia-3","volume":"17","author":"Wu","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.urology.2024.01.007_bib8","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1089\/gtmb.2020.0036","article-title":"Clinical exome sequencing identifies a novel mutation of the GREB1L gene in a Chinese family with renal agenesis","volume":"24","author":"Wang","year":"2020","journal-title":"Genet Test Mol Biomark"},{"key":"10.1016\/j.urology.2024.01.007_bib9","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.urology.2024.01.007_bib10","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.ajhg.2017.09.018","article-title":"Exome-wide association study identifies GREB1L mutations in congenital kidney malformations","volume":"101","author":"Sanna-Cherchi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.urology.2024.01.007_bib11","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.ajhg.2017.09.026","article-title":"Mutations in GREB1L cause bilateral kidney agenesis in humans and mice","volume":"101","author":"De Tomasi","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.urology.2024.01.007_bib12","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1534\/genetics.117.1125","article-title":"A gene implicated in activation of retinoic acid receptor targets is a novel renal agenesis gene in humans","volume":"207","author":"Brophy","year":"2017","journal-title":"Genetics"},{"key":"10.1016\/j.urology.2024.01.007_bib13","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/gim.2017.173","article-title":"Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis","volume":"20","author":"Boissel","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.urology.2024.01.007_bib14","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1111\/cge.13185","article-title":"Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies","volume":"93","author":"Rasmussen","year":"2018","journal-title":"Clin Genet"},{"key":"10.1016\/j.urology.2024.01.007_bib15","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1093\/humrep\/dez126","article-title":"Whole-exome sequencing identifies a GREB1L variant in a three-generation family with M\u00fcllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-K\u00fcster-Hauser (MRKH) syndrome. A case report","volume":"34","author":"Herlin","year":"2019","journal-title":"Hum Reprod"},{"key":"10.1016\/j.urology.2024.01.007_bib16","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1111\/cge.13769","article-title":"GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome","volume":"98","author":"Jacquinet","year":"2020","journal-title":"Clin Genet"},{"key":"10.1016\/j.urology.2024.01.007_bib17","doi-asserted-by":"crossref","first-page":"687","DOI":"10.3390\/genes11060687","article-title":"Autosomal dominantly inherited GREB1L variants in individuals with profound sensorineural hearing impairment","volume":"11","author":"Schrauwen","year":"2020","journal-title":"Genes"},{"key":"10.1016\/j.urology.2024.01.007_bib18","doi-asserted-by":"crossref","first-page":"115","DOI":"10.21053\/ceo.2021.01935","article-title":"Major contribution of GREB1L alterations to severe inner ear malformation largely in a non-Mendelian fashion","volume":"15","author":"Kim","year":"2022","journal-title":"Clin Exp Otorhinolaryngol"},{"key":"10.1016\/j.urology.2024.01.007_bib19","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1002\/humu.24324","article-title":"Targeted next-generation sequencing in a large series of fetuses with severe renal diseases","volume":"43","author":"Jordan","year":"2022","journal-title":"Hum Mutat"},{"key":"10.1016\/j.urology.2024.01.007_bib20","doi-asserted-by":"crossref","DOI":"10.3390\/jcm11195598","article-title":"Genome sequencing and transcriptome profiling in twins discordant for Mayer-Rokitansky-K\u00fcster-Hauser syndrome","volume":"11","author":"Buchert","year":"2022","journal-title":"J Clin Med"},{"key":"10.1016\/j.urology.2024.01.007_bib21","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1167\/iovs.64.14.25","article-title":"Clinical characteristics and genetic variants in Taiwanese patients with PROM1-related inherited retinal disorders","volume":"64","author":"Lin","year":"2023","journal-title":"Investig Ophthalmol Vis Sci"},{"key":"10.1016\/j.urology.2024.01.007_bib22","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1152\/physiolgenomics.00033.2012","article-title":"Transcriptomine, a web resource for nuclear receptor signaling transcriptomes","volume":"44","author":"Ochsner","year":"2012","journal-title":"Physiol Genomics"},{"key":"10.1016\/j.urology.2024.01.007_bib23","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1242\/dev.040287","article-title":"Non-cell-autonomous retinoid signaling is crucial for renal development","volume":"137","author":"Rosselot","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.urology.2024.01.007_bib24","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.molcel.2016.06.039","article-title":"OCT4 acts as an integrator of pluripotency and signal-induced differentiation","volume":"63","author":"Simandi","year":"2016","journal-title":"Mol Cell"},{"key":"10.1016\/j.urology.2024.01.007_bib25","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.reprotox.2019.03.006","article-title":"Retinoic acid signaling determines the fate of the uterus from the mouse M\u00fcllerian duct","volume":"86","author":"Nakajima","year":"2019","journal-title":"Reprod Toxicol"},{"key":"10.1016\/j.urology.2024.01.007_bib26","doi-asserted-by":"crossref","DOI":"10.1016\/j.acthis.2021.151679","article-title":"GREB1L, CRELD2 and ITGA10 expression in the human developmental and postnatal kidneys: an immunohistochemical study","volume":"123","author":"Lasi\u0107","year":"2021","journal-title":"Acta Histochem"}],"container-title":["Urology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090429524000220?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0090429524000220?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T16:31:32Z","timestamp":1792686692000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0090429524000220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3]]},"references-count":26,"alternative-id":["S0090429524000220"],"URL":"https:\/\/doi.org\/10.1016\/j.urology.2024.01.007","relation":{},"ISSN":["0090-4295"],"issn-type":[{"value":"0090-4295","type":"print"}],"subject":[],"published":{"date-parts":[[2024,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Renal Hypodysplasia\/Aplasia 3 Caused by a Rare Variant of GREB1L With Incomplete Penetrance in a Chinese Family","name":"articletitle","label":"Article Title"},{"value":"Urology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.urology.2024.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}