{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T02:14:32Z","timestamp":1772763272591,"version":"3.50.1"},"reference-count":22,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2007]]},"abstract":"<i>Objective:<\/i> Autosomal-dominant pseudohypoaldosteronism type 1 (PHA1) is mostly caused by mutations in the mineralocorticoid receptor <i>(NR3C2)<\/i> gene. However, several kindreds with clinical signs of PHA1 but without <i>NR3C2<\/i> gene mutations or deletions are reported. Serum- and glucocorticoid-induced kinase 1 (Sgk1) is involved in epithelial sodium reabsorption by facilitating the accumulation of the epithelial sodium channel in the plasma membrane. Therefore variations in the <i>SGK1<\/i> gene may aggravate renal salt loss or cause PHA1. <i>Methods:<\/i> The <i>SGK1<\/i> genewas sequenced in 10 patients with the typical clinical signs of PHA1 but without <i>NR3C2 <\/i>or <i>SCNN1A<\/i>, <i>SCNN1B<\/i> and <i>SCNN1C<\/i> gene mutation. <i>Results:<\/i> No disease-causing <i>SGK1<\/i> gene mutation was detected in the studied PHA1 patient group. Two novel intronic SNPs which were also present in the normal population were detected in 2 patients. <i>Conclusion:<\/i> Our data do not support that <i>SGK1<\/i> gene variations are disease-causing factors in genetically unexplained PHA1. Therefore, systematic investigation of other factors downstream of the MR involved in epithelial sodium reabsorption is warranted in patients with autosomal-dominant PHA1.<\/jats:p>","DOI":"10.1159\/000100107","type":"journal-article","created":{"date-parts":[[2007,2,23]],"date-time":"2007-02-23T15:59:56Z","timestamp":1172246396000},"page":"164-169","source":"Crossref","is-referenced-by-count":4,"title":["Exclusion of Serum- and Glucocorticoid-Induced Kinase 1 <i>(SGK1)<\/i> as a Candidate Gene for Genetically Heterogeneous Renal Pseudohypoaldosteronism Type I in Eight Families"],"prefix":"10.1159","volume":"27","author":[{"given":"Felix G.","family":"Riepe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul-Martin","family":"Holterhus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2007,2,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.33.169.252"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2005.02229.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F966"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.mce.2003.10.017"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.79.1.32"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.80.3.814"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.5.2056"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159%2F000080672"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20371"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.274.24.16973"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.94.9.4440"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.physiol.68.040104.131654"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093%2Femboj%2F18.11.3024"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0504422102"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.2005-0193"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M312477200"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00424-003-1222-9"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI200215696"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2006-0605"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.7.2434"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2002-021556"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1101%2Fgr.2014904"}],"container-title":["American Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100107","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/100107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:46:58Z","timestamp":1745462818000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000100107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":22,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000100107","archive":["Portico"],"relation":{},"ISSN":["0250-8095","1421-9670"],"issn-type":[{"value":"0250-8095","type":"print"},{"value":"1421-9670","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}