{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:34:31Z","timestamp":1779233671057,"version":"3.51.4"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81270820"],"award-info":[{"award-number":["81270820"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1016\/j.gene.2013.08.041","type":"journal-article","created":{"date-parts":[[2013,8,27]],"date-time":"2013-08-27T06:46:48Z","timestamp":1377586008000},"page":"363-369","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":21,"title":["Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking"],"prefix":"10.1016","volume":"531","author":[{"given":"Maojing","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuqing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suxia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minghui","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.08.041_bb0005","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1053\/j.ajkd.2008.08.020","article-title":"Immature renal structures associated with a novel UMOD sequence variant","volume":"53","author":"Benetti","year":"2009","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.gene.2013.08.041_bb0010","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1111\/j.1600-0854.2006.00481.x","article-title":"Defective intracellular trafficking of uromodulin mutant isoforms","volume":"7","author":"Bernascone","year":"2006","journal-title":"Traffic"},{"key":"10.1016\/j.gene.2013.08.041_bb0020","doi-asserted-by":"crossref","first-page":"2429","DOI":"10.2215\/CJN.01220211","article-title":"Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations","volume":"6","author":"Bollee","year":"2011","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.gene.2013.08.041_bb0025","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":"16","author":"Choi","year":"2005","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.gene.2013.08.041_bb0030","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":"10.1016\/j.gene.2013.08.041_bb0035","first-page":"127","article-title":"Gout, familial hypericaemia, and renal disease","volume":"29","author":"Duncan","year":"1960","journal-title":"Q. J. Med."},{"key":"10.1016\/j.gene.2013.08.041_bb0040","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1006\/bbrc.2001.6112","article-title":"Analysis of the C-terminal structure of urinary Tamm\u2013Horsfall protein reveals that the release of the glycosyl phosphatidylinositol-anchored counterpart from the kidney occurs by phenylalanine-specific proteolysis","volume":"289","author":"Fukuoka","year":"2001","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.08.041_bb0045","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":"10.1016\/j.gene.2013.08.041_bb0050","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1681\/ASN.2006020158","article-title":"Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy","volume":"18","author":"Jennings","year":"2007","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.gene.2013.08.041_bb0055","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00559.x","article-title":"Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families","volume":"65","author":"Kudo","year":"2004","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2013.08.041_bb0060","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1038\/ki.1990.128","article-title":"Tamm\u2013Horsfall protein\u2014uromodulin (1950\u20131990)","volume":"37","author":"Kumar","year":"1990","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2013.08.041_bb0065","doi-asserted-by":"crossref","first-page":"1680","DOI":"10.3346\/jkms.2010.25.11.1680","article-title":"A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea","volume":"25","author":"Lee","year":"2010","journal-title":"J. Korean Med. Sci."},{"key":"10.1016\/j.gene.2013.08.041_bb0070","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2013.08.041_bb0075","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1159\/000337343","article-title":"A Japanese family suffering from familial juvenile hyperuricemic nephropathy due to a rare mutation of the uromodulin gene","volume":"2","author":"Nakayama","year":"2012","journal-title":"Case Rep. Nephrol. Urol."},{"key":"10.1016\/j.gene.2013.08.041_bb0080","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nrm2199","article-title":"Signal integration in the endoplasmic reticulum unfolded protein response","volume":"8","author":"Ron","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.gene.2013.08.041_bb0085","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.bbrc.2008.03.099","article-title":"Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage","volume":"370","author":"Santambrogio","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.08.041_bb0090","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":"10.1016\/j.gene.2013.08.041_bb0100","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1006\/bbrc.1993.1890","article-title":"Biosynthesis and oligosaccharide processing of human Tamm\u2013Horsfall glycoprotein permanently expressed in HeLa cells","volume":"194","author":"Serafini-Cessi","year":"1993","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.gene.2013.08.041_bb0095","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/S0272-6386(03)00829-1","article-title":"Tamm\u2013Horsfall glycoprotein: biology and clinical relevance","volume":"42","author":"Serafini-Cessi","year":"2003","journal-title":"Am. J. Kidney Dis."},{"key":"10.1016\/j.gene.2013.08.041_bb0105","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.2215\/CJN.06820711","article-title":"Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure","volume":"6","author":"Smith","year":"2011","journal-title":"Clin. J. Am. Soc. Nephrol."},{"key":"10.1016\/j.gene.2013.08.041_bb0110","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1093\/glycob\/9.1.21","article-title":"Glycosylation sites and site-specific glycosylation in human Tamm\u2013Horsfall glycoprotein","volume":"9","author":"van Rooijen","year":"1999","journal-title":"Glycobiology"},{"key":"10.1016\/j.gene.2013.08.041_bb0115","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":"Vyletal","year":"2006","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2013.08.041_bb0120","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1159\/000321013","article-title":"Uromodulin biology and pathophysiology\u2014an update","volume":"33","author":"Vyletal","year":"2010","journal-title":"Kidney Blood Press. Res."},{"key":"10.1016\/j.gene.2013.08.041_bb0125","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1159\/000339752","article-title":"Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy","volume":"36","author":"Wei","year":"2012","journal-title":"Am. J. Nephrol."},{"key":"10.1016\/j.gene.2013.08.041_bb0130","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1093\/hmg\/ddg081","article-title":"Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders","volume":"12","author":"Whiteman","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.08.041_bb0135","doi-asserted-by":"crossref","first-page":"2963","DOI":"10.1093\/hmg\/ddp235","article-title":"Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum","volume":"18","author":"Williams","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.08.041_bb0145","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":"10.1016\/j.gene.2013.08.041_bb0140","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/sj.ki.5002089","article-title":"The uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect","volume":"71","author":"Wolf","year":"2007","journal-title":"Kidney Int."},{"key":"10.1016\/j.gene.2013.08.041_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":"10.1016\/j.gene.2013.08.041_bb0155","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1093\/hmg\/ddq077","article-title":"Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression","volume":"19","author":"Zaucke","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2013.08.041_bb0160","doi-asserted-by":"crossref","first-page":"25935","DOI":"10.1074\/jbc.R400008200","article-title":"Signaling the unfolded protein response from the endoplasmic reticulum","volume":"279","author":"Zhang","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2013.08.041_bb0165","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/nature07203","article-title":"From endoplasmic-reticulum stress to the inflammatory response","volume":"454","author":"Zhang","year":"2008","journal-title":"Nature"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913010846?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111913010846?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T18:21:15Z","timestamp":1539454875000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111913010846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["S0378111913010846"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.08.041","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.08.041","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}