{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T08:26:34Z","timestamp":1792052794247,"version":"4.4.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1038\/ejhg.2012.225","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T16:13:16Z","timestamp":1349885596000},"page":"687-690","source":"Crossref","is-referenced-by-count":24,"title":["An atypical Dent\u2019s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes"],"prefix":"10.1038","volume":"21","author":[{"given":"Maria","family":"Addis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristiana","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica","family":"Tosetto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Ceol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalba","family":"Cristofaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Antonietta","family":"Melis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vercelloni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorella","family":"Del Prete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Marra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Anglani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"BFejhg2012225_CR1","first-page":"1086","volume":"77","author":"OM Wrong","year":"1990","unstructured":"Wrong OM, Nordern AGW, Feest TG : Dent\u2019s disease: a familial renal tubular syndrome with hypercalciuria, tubular proteinuria, rickets, nephrocalcinosis and eventual renal failure. Q J Med 1990; 77: 1086\u20131087, (Abstract).","journal-title":"Q J Med"},{"key":"BFejhg2012225_CR2","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1038\/379445a0","volume":"379","author":"SE Lloyd","year":"1996","unstructured":"Lloyd SE, Pearce SHS, Fisher SE et al: A common molecular basis for three inherited kidney stone diseases. Nature 1996; 379: 445\u2013449.","journal-title":"Nature"},{"key":"BFejhg2012225_CR3","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1046\/j.1523-1755.2000.00916.x","volume":"57","author":"RV Thakker","year":"2000","unstructured":"Thakker RV : Pathogenesis of Dent\u2019s disease and related syndromes of X-linked nephrolithiasis. Kidney Int 2000; 57: 787\u2013793.","journal-title":"Kidney Int"},{"key":"BFejhg2012225_CR4","doi-asserted-by":"publisher","first-page":"8075","DOI":"10.1073\/pnas.95.14.8075","volume":"95","author":"W Gunther","year":"1998","unstructured":"Gunther W, Luchow A, Cluzeaud F, Vandewalle A, Jentsch TJ : ClC-5, the chloride channel mutated in Dent\u2019s disease, colocalizes with the proton pump in endocytotically active kidney cells. Proc Natl Acad Sci USA 1998; 95: 8075\u20138080.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2012225_CR5","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1093\/hmg\/8.2.247","volume":"8","author":"O Devuyst","year":"1999","unstructured":"Devuyst O, Christie PT, Courtoy PJ, Beauwens R, Thakker RV : Intra-renal and subcellular distribution of the human chloride channel, CLC-5 reveals a pathophysiological basis for Dent\u2019s disease. Hum Mol Genet 1999; 8: 247\u2013257.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2012225_CR6","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1016\/j.bbrc.2005.02.060","volume":"329","author":"M Hara-Chikuma","year":"2005","unstructured":"Hara-Chikuma M, Wang Y, Guggino SE, Guggino WB, Verkman AS : Impaired acidification in early endosomes of ClC-5 deficient proximal tubule. Biochem Biophys Res Commun 2005; 329: 941\u2013946.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg2012225_CR7","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/nature03720","volume":"436","author":"A Picollo","year":"2005","unstructured":"Picollo A, Pusch M : Chloride\/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 2005; 436: 420\u2013423.","journal-title":"Nature"},{"key":"BFejhg2012225_CR8","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1038\/nature03860","volume":"436","author":"O Scheel","year":"2005","unstructured":"Scheel O, Zdebik AA, Lourdel S, Jentsch TJ : Voltage-dependent electrogenic chloride\/proton exchange by endosomal CLC proteins. Nature 2005; 436: 424\u2013427.","journal-title":"Nature"},{"key":"BFejhg2012225_CR9","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1086\/427887","volume":"76","author":"RR Hoopes","year":"2005","unstructured":"Hoopes RR, Shrimpton AE, Knohl SJ et al: Dent Disease with mutations in OCRL1. Am J Hum Genet 2005; 76: 260\u2013267.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012225_CR10","doi-asserted-by":"publisher","first-page":"p27","DOI":"10.1159\/000213506","volume":"112","author":"AE Shrimpton","year":"2009","unstructured":"Shrimpton AE, Hoopes RR, Knohl SJ et al: OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability. Nephron Physiol 2009; 112: p27\u2013p36.","journal-title":"Nephron Physiol"},{"key":"BFejhg2012225_CR11","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1007\/s00467-007-0686-9","volume":"23","author":"HY Cho","year":"2008","unstructured":"Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI : Renal manifestations of Dent disease and Lowe syndrome. Pediatr Nephrol 2008; 23: 243\u2013249.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR12","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1007\/s00467-007-0454-x","volume":"22","author":"T Sekine","year":"2007","unstructured":"Sekine T, Nou K, Iyengar R et al: OCRL1 mutations in patients with Dent disease phenotype in Japan. Pediatr Nephrol 2007; 22: 975\u2013980.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR13","doi-asserted-by":"publisher","first-page":"e1","DOI":"10.1053\/j.ajkd.2006.08.018","volume":"48","author":"B Utsch","year":"2006","unstructured":"Utsch B, B\u00f6kenkamp A, Benz MR et al: Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis 2006; 48: e1\u2013e14.","journal-title":"Am J Kidney Dis"},{"key":"BFejhg2012225_CR14","doi-asserted-by":"publisher","first-page":"1765","DOI":"10.1007\/s00467-009-1198-6","volume":"24","author":"SK Sethi","year":"2009","unstructured":"Sethi SK, Ludwig M, Kabra M, Hari P, Bagga A : Vitamin A responsive night blindness in Dent's disease. Pediatr Nephrol 2009; 24: 1765\u20131770.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR15","doi-asserted-by":"publisher","first-page":"2363","DOI":"10.1007\/s00467-010-1615-x","volume":"25","author":"R Bogdanovi\u0107","year":"2010","unstructured":"Bogdanovi\u0107 R, Draaken M, Toromanovi\u0107 A, Dordevi\u0107 M, Staji\u0107 N, Ludwig M : A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency. Pediatr Nephrol 2010; 25: 2363\u20132368.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR16","doi-asserted-by":"publisher","first-page":"1476","DOI":"10.1093\/ndt\/gfh799","volume":"20","author":"N Besbas","year":"2005","unstructured":"Besbas N, Ozaltin F, Jeck N, Seyberth H, Ludwig M : CLCN5 mutation (R347X) associated with hypokalaemic metabolic alkalosis in a Turkish child: an unusual presentation of Dent's disease. Nephrol Dial Transplant 2005; 20: 1476\u20131479.","journal-title":"Nephrol Dial Transplant"},{"key":"BFejhg2012225_CR17","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1515\/JPEM.2008.21.3.279","volume":"21","author":"S Sheffer-Babila","year":"2008","unstructured":"Sheffer-Babila S, Chandra M, Speiser PW : Growth hormone improves growth rate and preserves renal function in Dent disease. J Pediatr Endocrinol Metab 2008; 21: 279\u2013286.","journal-title":"J Pediatr Endocrinol Metab"},{"key":"BFejhg2012225_CR18","doi-asserted-by":"publisher","first-page":"914","DOI":"10.2215\/CJN.00900207","volume":"2","author":"L Copelovitch","year":"2007","unstructured":"Copelovitch L, Nash MA, Kaplan BS : Hypothesis: Dent disease is an underrecognized cause of focal glomerulosclerosis. Clin J Am Soc Nephrol 2007; 2: 914\u2013918.","journal-title":"Clin J Am Soc Nephrol"},{"key":"BFejhg2012225_CR19","doi-asserted-by":"publisher","first-page":"2369","DOI":"10.1007\/s00467-009-1299-2","volume":"24","author":"Y Frishberg","year":"2009","unstructured":"Frishberg Y, Dinour D, Belostotsky R et al: Dent\u2019s disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? Pediatr Nephrol 2009; 24: 2369\u20132373.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR20","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/humu.21391","volume":"32","author":"H Hichri","year":"2011","unstructured":"Hichri H, Rendu J, Monnier N et al: From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat 2011; 32: 379\u2013388.","journal-title":"Hum Mutat"},{"key":"BFejhg2012225_CR21","doi-asserted-by":"publisher","first-page":"2452","DOI":"10.1093\/ndt\/gfl274","volume":"21","author":"E Tosetto","year":"2006","unstructured":"Tosetto E, Ghiggeri GM, Emma F et al: Phenotypic and genetic heterogeneity in Dent\u2019s disease-the results of an Italian collaborative study. Nephrol Dial Transplant 2006; 21: 2452\u20132463.","journal-title":"Nephrol Dial Transplant"},{"key":"BFejhg2012225_CR22","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1002\/humu.9239","volume":"23","author":"M Addis","year":"2004","unstructured":"Addis M, Loi M, Lepiani C, Cau M, Melis MA : OCRL mutation analysis in Italian patients with Lowe syndrome. Hum Mutat 2004; 23: 524\u2013525.","journal-title":"Hum Mutat"},{"key":"BFejhg2012225_CR23","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW : Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229\u20131239.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2012225_CR24","doi-asserted-by":"publisher","first-page":"1967","DOI":"10.1007\/s00467-009-1228-4","volume":"24","author":"E Tosetto","year":"2009","unstructured":"Tosetto E, Addis M, Caridi G et al: Locus heterogeneity of Dent\u2019s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatr Nephrol 2009; 24: 1967\u20131973.","journal-title":"Pediatr Nephrol"},{"key":"BFejhg2012225_CR25","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/ncb0905-851","volume":"7","author":"Y Ghanekar","year":"2005","unstructured":"Ghanekar Y, Lowe M : Signalling for secretion. Nat Cell Biol 2005; 7: 851\u2013853.","journal-title":"Nat Cell Biol"},{"key":"BFejhg2012225_CR26","doi-asserted-by":"publisher","first-page":"3467","DOI":"10.1091\/mbc.e05-02-0120","volume":"16","author":"R Choudhury","year":"2005","unstructured":"Choudhury R, Diao A, Zhang F et al: Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Mol Biol Cell 2005; 16: 3467\u20133479.","journal-title":"Mol Biol Cell"},{"key":"BFejhg2012225_CR27","doi-asserted-by":"publisher","first-page":"40169","DOI":"10.1074\/jbc.M307890200","volume":"278","author":"DH Hryciw","year":"2003","unstructured":"Hryciw DH, Wang Y, Devuyst O, Pollock CA, Poronnik P, Guggino WB : Cofilin interacts with ClC-5 and regulates albumin uptake in proximal tubule cell lines. J Biol Chem 2003; 278: 40169\u201340176.","journal-title":"J Biol Chem"},{"key":"BFejhg2012225_CR28","doi-asserted-by":"publisher","first-page":"13128","DOI":"10.1074\/jbc.M111.315788","volume":"287","author":"A Kuhbacher","year":"2012","unstructured":"Kuhbacher A, Dambournet D, Echard A, Cossart P, Pizarro-Cerda J : The phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein(OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. J Biol Chem 2012; 287: 13128\u201313136.","journal-title":"J Biol Chem"},{"key":"BFejhg2012225_CR29","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1111\/j.1600-0854.2005.00311.x","volume":"6","author":"M Lowe","year":"2005","unstructured":"Lowe M : Structure and function of the Lowe syndrome protein OCRL1. Traffic 2005; 6: 711\u2013719.","journal-title":"Traffic"},{"key":"BFejhg2012225_CR30","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1046\/j.1523-1755.2003.00851.x","volume":"63","author":"P Moulin","year":"2003","unstructured":"Moulin P, Igarashi T, Van der Smissen P et al: Altered polarity and expression of H+ATPase without ultrastructural changes in kidneys of Dent's disease patients. Kidney Int 2003; 63: 1285\u20131295.","journal-title":"Kidney Int"},{"key":"BFejhg2012225_CR31","doi-asserted-by":"publisher","first-page":"e24044","DOI":"10.1371\/journal.pone.0024044","volume":"6","author":"AG Grieve","year":"2011","unstructured":"Grieve AG, Daniels RD, Sanchez-Heras E et al: Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. PLoS One 2011; 6: e24044.","journal-title":"PLoS One"},{"key":"BFejhg2012225_CR32","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1038\/ncb2279","volume":"13","author":"D Dambournet","year":"2011","unstructured":"Dambournet D, Machicoane M, Chesneau L et al: Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis. Nat Cell Biol 2011; 13: 981\u2013988.","journal-title":"Nat Cell Biol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012225.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012225","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2012225.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:06:42Z","timestamp":1684429602000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2012225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,10]]},"references-count":32,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["BFejhg2012225"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.225","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,10]]}}}