{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:13:59Z","timestamp":1789758839545,"version":"4.0.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T00:00:00Z","timestamp":1409702400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1038\/ejhg.2014.176","type":"journal-article","created":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T11:22:26Z","timestamp":1409743346000},"page":"889-889","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with\/without severe ocular involvement"],"prefix":"10.1038","volume":"23","author":[{"given":"F\u00e9lix","family":"Claverie-Mart\u00edn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Vargas-Poussou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00edctor","family":"Garc\u00eda-Nieto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,3]]},"reference":[{"key":"BFejhg2014176_CR1","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 et al: Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 1999; 285: 103\u2013106.","journal-title":"Science"},{"key":"BFejhg2014176_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 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: 949\u2013957.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2014176_CR3","first-page":"619","volume":"118","author":"J Hou","year":"2008","unstructured":"Hou J, Renigunta A, Konrad M et al: Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex. J Clin Invest 2008; 118: 619\u2013628.","journal-title":"J Clin Invest"},{"key":"BFejhg2014176_CR4","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 et al: Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001; 12: 1872\u20131881.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2014176_CR5","doi-asserted-by":"publisher","first-page":"2206","DOI":"10.1046\/j.1523-1755.2001.00736.x","volume":"59","author":"A Blanchard","year":"2001","unstructured":"Blanchard A, Jeunemaitre X, Coudol P et al: Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 2001; 59: 2206\u20132215.","journal-title":"Kidney Int"},{"key":"BFejhg2014176_CR6","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1086\/380418","volume":"73","author":"D M\u00fcller","year":"2003","unstructured":"M\u00fcller D, Kausalya PJ, Claverie-Martin F et al: A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 2003; 73: 1293\u20131301.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2014176_CR7","doi-asserted-by":"publisher","first-page":"3076","DOI":"10.1210\/jc.2006-0200","volume":"91","author":"D M\u00fcller","year":"2006","unstructured":"M\u00fcller D, Kausalya PJ, Bockenhauer D et al: Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. J Clin Endocrinol Metab 2006; 91: 3076\u20133079.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFejhg2014176_CR8","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 et al: CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2008; 19: 171\u2013181.","journal-title":"J Am Soc Nephrol"},{"key":"BFejhg2014176_CR9","first-page":"187","volume":"22","author":"CS Kasapkara","year":"2011","unstructured":"Kasapkara CS, Tumer L, Okur I, Hasanoglu A : A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets. Genet Couns 2011; 22: 187\u2013192.","journal-title":"Genet Couns"},{"key":"BFejhg2014176_CR10","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 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: 801\u2013809.","journal-title":"Clin J Am Soc Nephrol"},{"key":"BFejhg2014176_CR11","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1093\/ndt\/gfr300","volume":"27","author":"T Guran","year":"2012","unstructured":"Guran T, Akcay T, Bereket A et al: Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes. Nephrol Dial Transplant 2012; 27: 667\u2013673.","journal-title":"Nephrol Dial Transplant"},{"key":"BFejhg2014176_CR12","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: 177\u2013180.","journal-title":"World J Pediatr"},{"key":"BFejhg2014176_CR13","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1186\/1756-0500-6-527","volume":"6","author":"A Deeb","year":"2013","unstructured":"Deeb A, Abood SA, Simon J, Dastoor H, Pearce SH, Sayer JA : A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis. BMC Res Notes 2013; 6: 527.","journal-title":"BMC Res Notes"},{"key":"BFejhg2014176_CR14","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 et al: A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis. Lancet 2014; 383: 98.","journal-title":"Lancet"},{"key":"BFejhg2014176_CR15","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1159\/000330854","volume":"34","author":"M Naeem","year":"2011","unstructured":"Naeem M, Hussain S, Akhtar N : Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease. Am J Nephrol 2011; 34: 241\u2013248.","journal-title":"Am J Nephrol"},{"key":"BFejhg2014176_CR16","first-page":"168","volume":"54","author":"Z Ekinci","year":"2012","unstructured":"Ekinci Z, Karaba\u015f L, Konrad M : Hypomagnesemia-hypercalciuria-nephrocalcinosis and ocular findings: a new claudin-19 mutation. Turk J Pediatr 2012; 54: 168\u2013170.","journal-title":"Turk J Pediatr"},{"key":"BFejhg2014176_CR17","doi-asserted-by":"publisher","first-page":"e53151","DOI":"10.1371\/journal.pone.0053151","volume":"8","author":"F Claverie-Mart\u00edn","year":"2013","unstructured":"Claverie-Mart\u00edn F, Garc\u00eda-Nieto V, Loris C et al: Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. PLoS One 2013; 8: e53151.","journal-title":"PLoS One"},{"key":"BFejhg2014176_CR18","doi-asserted-by":"publisher","first-page":"338","DOI":"10.4103\/1319-2442.109601","volume":"24","author":"A Al-Shibli","year":"2013","unstructured":"Al-Shibli A, Konrad M, Altay W, Al Masri O, Al-Gazali L, Al Attrach I : Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene. Saudi J Kidney Dis Transpl 2013; 24: 338\u2013344.","journal-title":"Saudi J Kidney Dis Transpl"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014176.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014176","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2014176.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:11:52Z","timestamp":1684429912000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2014176"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,3]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["BFejhg2014176"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2014.176","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,3]]},"assertion":[{"value":"17 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 July 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}