{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:47Z","timestamp":1790680787304,"version":"4.1.0"},"reference-count":102,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2017,7,26]],"date-time":"2017-07-26T00:00:00Z","timestamp":1501027200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Renal agenesis is a devastating birth defect, and although genes encoding retinoic acid signaling components have been shown to be important for renal...<\/jats:p><jats:p>Renal agenesis (RA) is one of the more extreme examples of congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis is almost invariably fatal at birth, and unilateral renal agenesis can lead to future health issues including end-stage renal disease. Genetic investigations have identified several gene variants that cause RA, including EYA1, LHX1, and WT1. However, whereas compound null mutations of genes encoding \u03b1 and \u03b3 retinoic acid receptors (RARs) cause RA in mice, to date there have been no reports of variants in RAR genes causing RA in humans. In this study, we carried out whole exome sequence analysis of two families showing inheritance of an RA phenotype, and in both identified a single candidate gene, GREB1L. Analysis of a zebrafish greb1l loss-of-function mutant revealed defects in the pronephric kidney just prior to death, and F0 CRISPR\/Cas9 mutagenesis of Greb1l in the mouse revealed kidney agenesis phenotypes, implicating Greb1l in this disorder. GREB1L resides in a chromatin complex with RAR members, and our data implicate GREB1L as a coactivator for RARs. This study is the first to associate a component of the RAR pathway with renal agenesis in humans.<\/jats:p>","DOI":"10.1534\/genetics.117.1125","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T01:00:20Z","timestamp":1500944420000},"page":"215-228","source":"Crossref","is-referenced-by-count":87,"title":["A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans"],"prefix":"10.1093","volume":"207","author":[{"given":"Patrick D","family":"Brophy","sequence":"first","affiliation":[{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"},{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Aarhus University Hospital, Skejby, Denmark 8200"},{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mrutyunjaya","family":"Parida","sequence":"additional","affiliation":[{"name":"Department of Biology , University of Iowa, Iowa City, Iowa 52242"},{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Greg","family":"Bonde","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin W","family":"Darbro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Biology , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason C","family":"Clarke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin A","family":"Peterson","sequence":"additional","affiliation":[{"name":"Genetics and Genomics , The Jackson Laboratory, Bar Harbor, Maine 04609"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Denegre","sequence":"additional","affiliation":[{"name":"Genetics and Genomics , The Jackson Laboratory, Bar Harbor, Maine 04609"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Schneider","sequence":"additional","affiliation":[{"name":"Medical Genetics , Carle Foundation Hospital and Physician Group, Urbana, Illinois 61801"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline R","family":"Sussman","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension , Mayo Clinic, Rochester, Minnesota 55905"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lone","family":"Sunde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Aarhus University Hospital, Skejby, Denmark 8200"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorte L","family":"Lildballe","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Aarhus University Hospital, Skejby, Denmark 8200"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens Michael","family":"Hertz","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Odense University Hospital, Odense, Denmark 5000"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A","family":"Cornell","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen A","family":"Murray","sequence":"additional","affiliation":[{"name":"Genetics and Genomics , The Jackson Laboratory, Bar Harbor, Maine 04609"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J Robert","family":"Manak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , University of Iowa, Iowa City, Iowa 52242"},{"name":"Department of Biology , University of Iowa, Iowa City, Iowa 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,7,26]]},"reference":[{"key":"2023030913451696800_","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1016\/j.devcel.2012.04.018","article-title":"FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.","volume":"22","author":"Barak","year":"2012","journal-title":"Dev. 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