{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T14:52:19Z","timestamp":1790866339936,"version":"4.1.0"},"reference-count":9,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2004,6,1]],"date-time":"2004-06-01T00:00:00Z","timestamp":1086048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2004,6,1]],"date-time":"2004-06-01T00:00:00Z","timestamp":1086048000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajkd.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Kidney Diseases"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1053\/j.ajkd.2004.03.039","type":"journal-article","created":{"date-parts":[[2008,3,18]],"date-time":"2008-03-18T01:09:31Z","timestamp":1205802571000},"page":"1142","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Medullary cystic kidney disease type 2"],"prefix":"10.1053","volume":"43","author":[{"given":"Anthony J","family":"Bleyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas C","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.ajkd.2004.03.039_BIB1","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1053\/j.ajkd.2003.10.002","article-title":"Cystic and inherited kidney diseases. (Core Curriculum in Nephrology.)","volume":"42","author":"Rizk","year":"2003","journal-title":"Am J Kidney Dis"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1046\/j.1523-1755.2003.00081.x","article-title":"Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene","volume":"64","author":"Bleyer","year":"2003","journal-title":"Kidney Int"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB3","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1136\/jmg.39.12.882","article-title":"Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy","volume":"39","author":"Hart","year":"2002","journal-title":"J Med Genet"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB4","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1046\/j.1523-1755.2003.00269.x","article-title":"Mutations in the uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains","volume":"64","author":"Wolf","year":"2003","journal-title":"Kidney Int"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB5","doi-asserted-by":"crossref","first-page":"2883","DOI":"10.1097\/01.ASN.0000092147.83480.B5","article-title":"A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin","volume":"14","author":"Dahan","year":"2003","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB6","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1210\/jc.2002-021973","article-title":"Uromodulin mutations cause familial juvenile hyperuricemic nephropathy","volume":"88","author":"Turner","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB7","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.V12112348","article-title":"Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2","volume":"12","author":"Dahan","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB8","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1093\/ndt\/12.6.1242","article-title":"Late occurrence of cysts in autosomal dominant medullary cystic kidney disease","volume":"12","author":"Neumann","year":"1997","journal-title":"Nephrol Dial Transplant"},{"key":"10.1053\/j.ajkd.2004.03.039_BIB9","doi-asserted-by":"crossref","first-page":"3369","DOI":"10.1093\/hmg\/ddg353","article-title":"Allelism of MCKD, FJHN, and GCKD caused by impairment of uromodulin export dynamics","volume":"12","author":"Rampoldi","year":"2003","journal-title":"Hum Mol Genet"}],"container-title":["American Journal of Kidney Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638604005244?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0272638604005244?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T01:28:03Z","timestamp":1759454883000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0272638604005244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["S0272638604005244"],"URL":"https:\/\/doi.org\/10.1053\/j.ajkd.2004.03.039","relation":{},"ISSN":["0272-6386"],"issn-type":[{"value":"0272-6386","type":"print"}],"subject":[],"published":{"date-parts":[[2004,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Medullary cystic kidney disease type 2","name":"articletitle","label":"Article Title"},{"value":"American Journal of Kidney Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.ajkd.2004.03.039","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2004 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}