{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T07:11:07Z","timestamp":1789888267289,"version":"4.0.1"},"reference-count":28,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2012,1,21]],"date-time":"2012-01-21T00:00:00Z","timestamp":1327104000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,21]],"date-time":"2012-01-21T00:00:00Z","timestamp":1327104000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron Clin Pract"],"abstract":"<i>Background\/Aims:<\/i><i> HNF1B<\/i> nephropathy is characterized by dominantly inherited renal hypodysplasia with few cysts, slow renal decline and hypomagnesemia. Mice with antenatal inactivation of <i>HNF1B <\/i>are characterized by polycystic kidneys, renal failure and a profound decrease in cystic gene <i>(Pkhd1<\/i>, <i>Umod<\/i>, <i>Pkd2)<\/i> expression. Mice with inactivation after postnatal day 10 have no renal phenotype. <i>Methods:<\/i> Quantification of mRNA expression of <i>HNF1B, <\/i>six of its potential target genes <i>(PKHD1<\/i>, <i>PKD1<\/i>, <i>PKD2<\/i>, <i>IFT88<\/i>, <i>TMEM27<\/i> and <i>UMOD)<\/i> and three genes involved in the Mg<sup>2+<\/sup> renal homeostasis <i>(ATP1A1<\/i>, <i>FXYD2<\/i> and <i>CLDN16)<\/i> in the urinary sediment of 11 individuals with mutation of <i>HNF1B<\/i> and in 9 controls (non-invasive assessment of the renal transcriptome). <i>Results:<\/i> As compared to controls, no difference was observed in the urinary mRNA amount of <i>HNF1B <\/i>and the renal cystic genes. A significant increase in the expression of <i>ATP1A1<\/i>, which encodes the \u03b11-subunit of the Na<sup>+<\/sup>\/K<sup>+<\/sup>-ATPase, was identified in <i>HNF1B <\/i>patients consistent with its role in Mg<sup>2+<\/sup> homeostasis. <i>Conclusion:<\/i>Assessment of mRNA expression in urinary sediment is a non-invasive method applicable to gain insights into the pathophysiology of inherited nephropathies in humans. <i>HNF1B<\/i> nephropathy is generally not associated with postnatal down-expression of renal cystic genes in human, a finding consistent with mouse models.<\/jats:p>","DOI":"10.1159\/000334954","type":"journal-article","created":{"date-parts":[[2012,1,23]],"date-time":"2012-01-23T09:54:00Z","timestamp":1327312440000},"page":"c71-c78","source":"Crossref","is-referenced-by-count":9,"title":["Expression of Renal Cystic Genes in Patients with <i>HNF1B <\/i>Mutations"],"prefix":"10.1159","volume":"120","author":[{"given":"Stanislas","family":"Faguer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Decramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Devuyst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Philippe","family":"Lengel\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert J.","family":"Fourni\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Chauveau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,1,21]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2006091057"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2005101040"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS0925-4773%2899%2900221-X"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.ajkd.2007.06.016"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2Fgfh348"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2005.032854"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.2337%2Fdiabetes.54.11.3126"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.emboj.7600160"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1523-1755.2005.00625.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pone.0000414"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038%2Fnm.2068"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ki.5002795"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM200103293441301"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2007121328"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1152%2Fajprenal.00061.2009"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1053%2Fj.ajkd.2005.12.027"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2F81543"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016%2F0888-7543%2890%2990238-P"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI31680"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2004110989"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI36948"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F29.9.e45"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1297-384"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddl161"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddi057"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038%2Fng2047"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1681%2FASN.2008060633"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1038%2Fncpneph0680"}],"container-title":["Nephron Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334954","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:52:18Z","timestamp":1745434338000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000334954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1,21]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,5,1]]},"published-print":{"date-parts":[[2012,5,22]]}},"URL":"https:\/\/doi.org\/10.1159\/000334954","archive":["Portico"],"relation":{},"ISSN":["1660-2110"],"issn-type":[{"value":"1660-2110","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,1,21]]}}}