{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:15:51Z","timestamp":1789758951711,"version":"4.0.1"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,7,2]],"date-time":"2015-07-02T00:00:00Z","timestamp":1435795200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s12882-015-0079-4","type":"journal-article","created":{"date-parts":[[2015,7,1]],"date-time":"2015-07-01T09:21:42Z","timestamp":1435742502000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report"],"prefix":"10.1186","volume":"16","author":[{"given":"Paulo Marcio","family":"Yamaguti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pollyanna Almeida Costa","family":"dos Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno Sakamoto","family":"Leal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviane Brand\u00e3o Bandeira de Mello","family":"Santana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana Forte","family":"Mazzeu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina","family":"Acevedo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco de Assis Rocha","family":"Neves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,7,2]]},"reference":[{"issue":"6","key":"79_CR1","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/sj.ejhg.5200475","volume":"8","author":"S Weber","year":"2000","unstructured":"Weber S, Hoffmann K, Jeck N, Saar K, Boeswald M, Kuwertz-Broeking E, et al. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Eur J Hum Genet. 2000;8(6):414\u201322. doi:10.1038\/sj.ejhg.5200475.","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"79_CR2","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1086\/508617","volume":"79","author":"M Konrad","year":"2006","unstructured":"Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet. 2006;79(5):949\u201357. doi:10.1086\/508617.","journal-title":"Am J Hum Genet"},{"issue":"5424","key":"79_CR3","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1126\/science.285.5424.103","volume":"285","author":"DB Simon","year":"1999","unstructured":"Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science. 1999;285(5424):103\u20136.","journal-title":"Science"},{"issue":"3","key":"79_CR4","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1083\/jcb.200501154","volume":"169","author":"T Miyamoto","year":"2005","unstructured":"Miyamoto T, Morita K, Takemoto D, Takeuchi K, Kitano Y, Miyakawa T, et al. Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice. J Cell Biol. 2005;169(3):527\u201338. doi:10.1083\/jcb.200501154.","journal-title":"J Cell Biol"},{"issue":"2","key":"79_CR5","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1172\/JCI33970","volume":"118","author":"J Hou","year":"2008","unstructured":"Hou J, Renigunta A, Konrad M, Gomes AS, Schneeberger EE, Paul DL, et al. Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex. J Clin Invest. 2008;118(2):619\u201328. doi:10.1172\/JCI33970.","journal-title":"J Clin Invest"},{"issue":"36","key":"79_CR6","doi-asserted-by":"publisher","first-page":"15350","DOI":"10.1073\/pnas.0907724106","volume":"106","author":"J Hou","year":"2009","unstructured":"Hou J, Renigunta A, Gomes AS, Hou M, Paul DL, Waldegger S, et al. Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. Proc Natl Acad Sci U S A. 2009;106(36):15350\u20135. doi:10.1073\/pnas.0907724106.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"Pt 21","key":"79_CR7","doi-asserted-by":"publisher","first-page":"5109","DOI":"10.1242\/jcs.02631","volume":"118","author":"J Hou","year":"2005","unstructured":"Hou J, Paul DL, Goodenough DA. Paracellin-1 and the modulation of ion selectivity of tight junctions. J Cell Sci. 2005;118(Pt 21):5109\u201318. doi:10.1242\/jcs.02631.","journal-title":"J Cell Sci"},{"issue":"1","key":"79_CR8","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1007\/s00424-008-0589-z","volume":"458","author":"D Gunzel","year":"2009","unstructured":"Gunzel D, Yu AS. Function and regulation of claudins in the thick ascending limb of Henle. Pflugers Arch. 2009;458(1):77\u201388. doi:10.1007\/s00424-008-0589-z.","journal-title":"Pflugers Arch"},{"issue":"5","key":"79_CR9","doi-asserted-by":"publisher","first-page":"F1152","DOI":"10.1152\/ajprenal.00499.2009","volume":"298","author":"C Will","year":"2010","unstructured":"Will C, Breiderhoff T, Thumfart J, Stuiver M, Kopplin K, Sommer K, et al. Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting. Am J Physiol Renal Physiol. 2010;298(5):F1152\u201361. doi:10.1152\/ajprenal.00499.2009.","journal-title":"Am J Physiol Renal Physiol"},{"key":"79_CR10","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1111\/j.1749-6632.2009.04041.x","volume":"1165","author":"Q Shan","year":"2009","unstructured":"Shan Q, Himmerkus N, Hou J, Goodenough DA, Bleich M. Insights into driving forces and paracellular permeability from claudin-16 knockdown mouse. Ann N Y Acad Sci. 2009;1165:148\u201351. doi:10.1111\/j.1749-6632.2009.04041.x.","journal-title":"Ann N Y Acad Sci"},{"issue":"9","key":"79_CR11","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1681\/ASN.V1291872","volume":"12","author":"S Weber","year":"2001","unstructured":"Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2001;12(9):1872\u201381.","journal-title":"J Am Soc Nephrol"},{"issue":"5","key":"79_CR12","doi-asserted-by":"publisher","first-page":"801","DOI":"10.2215\/CJN.12841211","volume":"7","author":"A Godron","year":"2012","unstructured":"Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. Clin J Am Soc Nephrol. 2012;7(5):801\u20139. doi:10.2215\/CJN.12841211.","journal-title":"Clin J Am Soc Nephrol"},{"issue":"2","key":"79_CR13","doi-asserted-by":"publisher","first-page":"355","DOI":"10.2215\/CJN.02870310","volume":"6","author":"S Faguer","year":"2011","unstructured":"Faguer S, Chauveau D, Cintas P, Tack I, Cointault O, Rostaing L, et al. Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations. Clin J Am Soc Nephrol. 2011;6(2):355\u201360. doi:10.2215\/CJN.02870310.","journal-title":"Clin J Am Soc Nephrol"},{"issue":"1","key":"79_CR14","doi-asserted-by":"publisher","first-page":"e53151","DOI":"10.1371\/journal.pone.0053151","volume":"8","author":"F Claverie-Martin","year":"2013","unstructured":"Claverie-Martin F, Garcia-Nieto V, Loris C, Ariceta G, Nadal I, Espinosa L, et al. Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. PLoS One. 2013;8(1):e53151. doi:10.1371\/journal.pone.0053151.","journal-title":"PLoS One"},{"issue":"1","key":"79_CR15","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1681\/ASN.2007060709","volume":"19","author":"M Konrad","year":"2008","unstructured":"Konrad M, Hou J, Weber S, Dotsch J, Kari JA, Seeman T, et al. CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2008;19(1):171\u201381. doi:10.1681\/ASN.2007060709.","journal-title":"J Am Soc Nephrol"},{"issue":"8","key":"79_CR16","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1007\/s00467-002-0884-4","volume":"17","author":"MT Wolf","year":"2002","unstructured":"Wolf MT, Dotsch J, Konrad M, Boswald M, Rascher W. Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene. Pediatr Nephrol. 2002;17(8):602\u20138. doi:10.1007\/s00467-002-0884-4.","journal-title":"Pediatr Nephrol"},{"issue":"2","key":"79_CR17","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/s12519-011-0295-3","volume":"8","author":"HH Seeley","year":"2012","unstructured":"Seeley HH, Loomba-Albrecht LA, Nagel M, Butani L, Bremer AA. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations. World J Pediatr. 2012;8(2):177\u201380. doi:10.1007\/s12519-011-0295-3.","journal-title":"World J Pediatr"},{"issue":"3","key":"79_CR18","doi-asserted-by":"crossref","first-page":"399","DOI":"10.2144\/04373ST04","volume":"37","author":"RF Stern","year":"2004","unstructured":"Stern RF, Roberts RG, Mann K, Yau SC, Berg J, Ogilvie CM. Multiplex ligation-dependent probe amplification using a completely synthetic probe set. Biotechniques. 2004;37(3):399\u2013405.","journal-title":"Biotechniques"},{"key":"79_CR19","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1111\/j.1749-6632.2000.tb05235.x","volume":"915","author":"S Tsukita","year":"2000","unstructured":"Tsukita S, Furuse M. The structure and function of claudins, cell adhesion molecules at tight junctions. Ann N Y Acad Sci. 2000;915:129\u201335.","journal-title":"Ann N Y Acad Sci"},{"issue":"8","key":"79_CR20","doi-asserted-by":"publisher","first-page":"3076","DOI":"10.1210\/jc.2006-0200","volume":"91","author":"D Muller","year":"2006","unstructured":"Muller D, Kausalya PJ, Bockenhauer D, Thumfart J, Meij IC, Dillon MJ, et al. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. J Clin Endocrinol Metab. 2006;91(8):3076\u20139. doi:10.1210\/jc.2006-0200.","journal-title":"J Clin Endocrinol Metab"},{"issue":"23","key":"79_CR21","doi-asserted-by":"publisher","first-page":"17114","DOI":"10.1074\/jbc.M700632200","volume":"282","author":"J Hou","year":"2007","unstructured":"Hou J, Shan Q, Wang T, Gomes AS, Yan Q, Paul DL, et al. Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium. J Biol Chem. 2007;282(23):17114\u201322. doi:10.1074\/jbc.M700632200.","journal-title":"J Biol Chem"},{"issue":"5","key":"79_CR22","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1093\/ndt\/15.5.605","volume":"15","author":"V Benigno","year":"2000","unstructured":"Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG. Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review. Nephrol Dial Transplant. 2000;15(5):605\u201310.","journal-title":"Nephrol Dial Transplant"},{"issue":"6","key":"79_CR23","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1007\/s00467-003-1139-8","volume":"18","author":"JA Kari","year":"2003","unstructured":"Kari JA, Farouq M, Alshaya HO. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Pediatr Nephrol. 2003;18(6):506\u201310. doi:10.1007\/s00467-003-1139-8.","journal-title":"Pediatr Nephrol"},{"key":"79_CR24","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1146\/annurev-physiol-030212-183705","volume":"75","author":"J Hou","year":"2013","unstructured":"Hou J, Rajagopal M, Yu AS. Claudins and the kidney. Annu Rev Physiol. 2013;75:479\u2013501. doi:10.1146\/annurev-physiol-030212-183705.","journal-title":"Annu Rev Physiol"},{"key":"79_CR25","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1111\/j.1749-6632.2012.06529.x","volume":"1258","author":"J Hou","year":"2012","unstructured":"Hou J. The yin and yang of claudin-14 function in human diseases. Ann N Y Acad Sci. 2012;1258:185\u201390. doi:10.1111\/j.1749-6632.2012.06529.x.","journal-title":"Ann N Y Acad Sci"},{"issue":"5","key":"79_CR26","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1097\/MNH.0b013e32833b7125","volume":"19","author":"J Hou","year":"2010","unstructured":"Hou J, Goodenough DA. Claudin-16 and claudin-19 function in the thick ascending limb. Curr Opin Nephrol Hypertens. 2010;19(5):483\u20138. doi:10.1097\/MNH.0b013e32833b7125.","journal-title":"Curr Opin Nephrol Hypertens"},{"issue":"11","key":"79_CR27","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1007\/s00467-006-0247-7","volume":"21","author":"M Turkmen","year":"2006","unstructured":"Turkmen M, Kasap B, Soylu A, Bober E, Konrad M, Kavukcu S. Paracellin-1 gene mutation with multiple congenital abnormalities. Pediatr Nephrol. 2006;21(11):1776\u20138. doi:10.1007\/s00467-006-0247-7.","journal-title":"Pediatr Nephrol"},{"issue":"4","key":"79_CR28","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1159\/000094253","volume":"66","author":"F Kutluturk","year":"2006","unstructured":"Kutluturk F, Temel B, Uslu B, Aral F, Azezli A, Orhan Y, et al. An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics Horm Res. 2006;66(4):175\u201381. doi:10.1159\/000094253.","journal-title":"An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics Horm Res"},{"issue":"4","key":"79_CR29","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1007\/s10157-008-0126-6","volume":"13","author":"M Al-Haggar","year":"2009","unstructured":"Al-Haggar M, Bakr A, Tajima T, Fujieda K, Hammad A, Soliman O, et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. Clin Exp Nephrol. 2009;13(4):288\u201394. doi:10.1007\/s10157-008-0126-6.","journal-title":"Clin Exp Nephrol"},{"issue":"9911","key":"79_CR30","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/S0140-6736(13)62673-2","volume":"383","author":"L Nadarajah","year":"2014","unstructured":"Nadarajah L, Khosravi M, Dumitriu S, Klootwijk E, Kleta R, Yaqoob MM, et al. A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis. Lancet. 2014;383(9911):98. doi:10.1016\/S0140-6736(13)62673-2.","journal-title":"Lancet"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12882-015-0079-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-015-0079-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-015-0079-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-015-0079-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T17:11:31Z","timestamp":1630602691000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-015-0079-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,2]]},"references-count":30,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["79"],"URL":"https:\/\/doi.org\/10.1186\/s12882-015-0079-4","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,2]]},"assertion":[{"value":"5 February 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2015","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2015","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"92"}}