{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:31:07Z","timestamp":1770823867208,"version":"3.50.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T00:00:00Z","timestamp":1172707200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":3203,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2007,3]]},"DOI":"10.1038\/sj.ki.5002089","type":"journal-article","created":{"date-parts":[[2007,1,24]],"date-time":"2007-01-24T05:44:49Z","timestamp":1169617489000},"page":"574-581","source":"Crossref","is-referenced-by-count":43,"title":["The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect"],"prefix":"10.1016","volume":"71","author":[{"given":"M.T.F.","family":"Wolf","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.B.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Zaucke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kunze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Misselwitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Ruley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Ronda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Eifinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Licht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Hoppe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Hildebrandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/sj.ki.5002089_bb0010","doi-asserted-by":"crossref","first-page":"47","DOI":"10.7326\/0003-4819-74-1-47","article-title":"Evolution of clinical signs in adult-onset cystic disease of the renal medulla","volume":"74","author":"Gardner","year":"1971","journal-title":"Ann Intern Med"},{"key":"10.1038\/sj.ki.5002089_bb0015","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1086\/302414","article-title":"Identification of a new locus for medullary cystic disease on, chromosome 16p12","volume":"64","author":"Scolari","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.ki.5002089_bb0020","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00430668","article-title":"The nephronophthisis complex: a clinicopathologic study in children","volume":"394","author":"Waldherr","year":"1982","journal-title":"Virchows Arch"},{"key":"10.1038\/sj.ki.5002089_bb0025","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1681\/ASN.V1191753","article-title":"Molecular genetics of nephronophthisis and medullary cystic kidney disease","volume":"11","author":"Hildebrandt","year":"2000","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0030","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":"10.1038\/sj.ki.5002089_bb0035","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1046\/j.1523-1755.2003.00269.x","article-title":"Mutations of 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":"10.1038\/sj.ki.5002089_bb0040","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":"10.1038\/sj.ki.5002089_bb0045","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"},{"key":"10.1038\/sj.ki.5002089_bb0050","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1111\/j.1523-1755.2004.00774.x","article-title":"Homozygosity for uromodulin disorders: FJHN and MCKD-type 2","volume":"66","author":"Rezende-Lima","year":"2004","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0055","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1053\/j.ajkd.2005.04.003","article-title":"A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease","volume":"46","author":"Lens","year":"2005","journal-title":"Am J Kidney Dis"},{"key":"10.1038\/sj.ki.5002089_bb0060","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ncb802","article-title":"The ZP domain is a conserved module for polymerization of extracellular proteins","volume":"4","author":"Jovine","year":"2002","journal-title":"Nat Cell Biol"},{"key":"10.1038\/sj.ki.5002089_bb0065","first-page":"38","article-title":"Tamm\u2013Horsfall protein inhibits binding of S- and P-fimbriated Escherichia coli to human renal tubular epithelial cells","volume":"5","author":"Leeker","year":"1997","journal-title":"Exp Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0070","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1046\/j.1440-1711.2002.01125.x","article-title":"Binding of Tamm\u2013Horsfall protein to complement 1q and complement 1, including influence of hydrogen-ion concentration","volume":"78","author":"Rhodes","year":"2002","journal-title":"Immunol Cell Biol"},{"key":"10.1038\/sj.ki.5002089_bb0075","doi-asserted-by":"crossref","first-page":"1859","DOI":"10.1016\/S0002-9440(10)64142-9","article-title":"Mapping the binding domain of immunoglobulin light chains for Tamm\u2013Horsfall protein","volume":"158","author":"Ying","year":"2001","journal-title":"Am J Pathol"},{"key":"10.1038\/sj.ki.5002089_bb0080","doi-asserted-by":"crossref","first-page":"22192","DOI":"10.1016\/S0022-5347(05)65127-0","article-title":"Decreased renal expression of the putative calcium oxalate inhibitor Tamm\u2013Horsfall protein in the ethylene glycol rat model of calcium oxalate urolithiasis","volume":"167","author":"Marengo","year":"2002","journal-title":"J Urol"},{"key":"10.1038\/sj.ki.5002089_bb0085","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1111\/j.1523-1755.2005.00560.x","article-title":"Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41","volume":"68","author":"Hodanova","year":"2005","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0090","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1038\/sj.ki.5001728","article-title":"Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN\/MCKD syndrome","volume":"70","author":"Vylet'al","year":"2006","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0095","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s004670050466","article-title":"Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children","volume":"12","author":"McBride","year":"1998","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0100","doi-asserted-by":"crossref","first-page":"2028","DOI":"10.1093\/ndt\/gfk081","article-title":"Is salt-wasting the long awaited answer to the hyperuricaemia seen in uromodulin storage diseases?","volume":"21","author":"Gersch","year":"2006","journal-title":"Nephrol Dial Transplant"},{"key":"10.1038\/sj.ki.5002089_bb0105","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.semnephrol.2004.09.003","article-title":"Hereditary hyperuricemia and renal disease","volume":"25","author":"Cameron","year":"2005","journal-title":"Semin Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0110","doi-asserted-by":"crossref","first-page":"2348","DOI":"10.1681\/ASN.V12112348","article-title":"Familal juvenile hyperuremic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?","volume":"12","author":"Dahan","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0115","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1007\/s00467-004-1719-2","article-title":"Clinico-pathologic findings in medullary cystic kidney disease type 2","volume":"20","author":"Bleyer","year":"2005","journal-title":"Pediatr Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0120","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1111\/j.1523-1755.2004.00452.x","article-title":"Tamm\u2013Horsfall protein knockout mice are more prone to urinary tract infection: rapid communication","volume":"65","author":"Bates","year":"2004","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0125","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1016\/S0092-8674(00)81793-6","article-title":"The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I","volume":"87","author":"Qian","year":"1996","journal-title":"Cell"},{"key":"10.1038\/sj.ki.5002089_bb0130","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/75981","article-title":"Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations","volume":"25","author":"Watnick","year":"2000","journal-title":"Nat Genet"},{"key":"10.1038\/sj.ki.5002089_bb0135","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1038\/sj.ki.5000411","article-title":"Tamm\u2013Horsfall protein knockout mice do not develop medullary cystic kidney disease","volume":"69","author":"Raffi","year":"2006","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0140","series-title":"Oxford Textbook of Clinical Nephrology","first-page":"2469","article-title":"Inherited disorders of purine metabolism and transport","author":"Cameron","year":"1997"},{"key":"10.1038\/sj.ki.5002089_bb0145","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1038\/sj.ki.5000411","article-title":"Tamm\u2013Horsfall protein knockout mice do not develop medullary cystic kidney disease","volume":"69","author":"Raffi","year":"2006","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0150","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.febslet.2004.10.092","article-title":"Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy","volume":"578","author":"Yang","year":"2004","journal-title":"FEBS Lett"},{"key":"10.1038\/sj.ki.5002089_bb0155","doi-asserted-by":"crossref","first-page":"464","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":"10.1038\/sj.ki.5002089_bb0160","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1038\/ki.1997.459","article-title":"Intracellular transport, cell-surface exposure and release of recombinant Tamm\u2013Horsfall glycoprotein","volume":"2","author":"Malagolini","year":"1997","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5002089_bb0165","doi-asserted-by":"crossref","first-page":"3006","DOI":"10.1681\/ASN.2005050461","article-title":"Mutant Tamm\u2013Horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate","volume":"6","author":"Choi","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5002089_bb0170","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0022-3476(96)70322-0","article-title":"Abnormal serum uric acid levels in children","volume":"28","author":"Wilcox","year":"1996","journal-title":"J Pediatr"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815524113?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815524113?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,8,8]],"date-time":"2021-08-08T01:59:48Z","timestamp":1628387988000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815524113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["S0085253815524113"],"URL":"https:\/\/doi.org\/10.1038\/sj.ki.5002089","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2007,3]]}}}