{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:07:26Z","timestamp":1778274446546,"version":"3.51.4"},"reference-count":5,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Seminars in Nephrology"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.semnephrol.2016.09.011","type":"journal-article","created":{"date-parts":[[2016,12,14]],"date-time":"2016-12-14T12:05:03Z","timestamp":1481717103000},"page":"472-474","source":"Crossref","is-referenced-by-count":9,"title":["Genetics of Kidney Diseases"],"prefix":"10.1016","volume":"36","author":[{"given":"Friedhelm","family":"Hildebrandt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.semnephrol.2016.09.011_bib1","doi-asserted-by":"crossref","first-page":"e907","DOI":"10.1542\/peds.2006-2164","article-title":"Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)","volume":"119","author":"Hinkes","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.semnephrol.2016.09.011_bib2","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s00439-013-1297-0","article-title":"Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy","volume":"132","author":"Halbritter","year":"2013","journal-title":"Hum Genet"},{"key":"10.1016\/j.semnephrol.2016.09.011_bib3","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.2009.071365","article-title":"Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping","volume":"47","author":"Harville","year":"2010","journal-title":"J Med Genet"},{"key":"10.1016\/j.semnephrol.2016.09.011_bib4","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","article-title":"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness","volume":"121","author":"Heeringa","year":"2011","journal-title":"J Clin Invest"},{"key":"10.1016\/j.semnephrol.2016.09.011_bib5","doi-asserted-by":"crossref","first-page":"5179","DOI":"10.1172\/JCI69000","article-title":"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption","volume":"123","author":"Ashraf","year":"2013","journal-title":"J Clin Invest"}],"container-title":["Seminars in Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0270929516300948?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0270929516300948?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,5]],"date-time":"2018-09-05T21:24:15Z","timestamp":1536182655000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0270929516300948"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S0270929516300948"],"URL":"https:\/\/doi.org\/10.1016\/j.semnephrol.2016.09.011","relation":{},"ISSN":["0270-9295"],"issn-type":[{"value":"0270-9295","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}