{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:24:33Z","timestamp":1792157073165,"version":"4.4.0"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1681\/asn.2014101025","type":"journal-article","created":{"date-parts":[[2015,6,5]],"date-time":"2015-06-05T23:06:34Z","timestamp":1433545594000},"page":"604-614","source":"Crossref","is-referenced-by-count":257,"title":["Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia"],"prefix":"10.1681","volume":"27","author":[{"given":"Karl P.","family":"Schlingmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Ruminska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kaufmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Dursun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Patti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitta","family":"Kranz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Pronicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elzbieta","family":"Ciara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teoman","family":"Akcay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derya","family":"Bulus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth A.M.","family":"Cornelissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aneta","family":"Gawlik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Przemys\u0142aw","family":"Sikora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwig","family":"Patzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Galiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veselin","family":"Boyadzhiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miroslav","family":"Dumic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asaf","family":"Vivante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Kleta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Dekel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9 J.","family":"Bindels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Rust","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian C.","family":"Forster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nati","family":"Hernando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenville","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten A.","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-30-20230208","first-page":"73","article-title":"Molecular genetics of vitamin D-dependent hereditary rickets.","volume":"57","author":"Kato","year":"2002","journal-title":"Horm Res"},{"key":"R2-30-20230208","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1056\/NEJMoa1103864","article-title":"Mutations in CYP24A1 and idiopathic infantile hypercalcemia.","volume":"365","author":"Schlingmann","year":"2011","journal-title":"N Engl J Med"},{"key":"R3-30-20230208","first-page":"908","article-title":"[Chronic disorders of calcium and phosphate metabolism in children]","volume":"81","author":"Fanconi","year":"1951","journal-title":"Schweiz Med Wochenschr"},{"key":"R4-30-20230208","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0140-6736(53)90187-1","article-title":"Idiopathic hypercalcaemia in infants.","volume":"265","author":"Lightwood","year":"1953","journal-title":"Lancet"},{"key":"R5-30-20230208","doi-asserted-by":"crossref","first-page":"649","DOI":"10.2215\/CJN.05360512","article-title":"1,25-(OH)2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis.","volume":"8","author":"Nesterova","year":"2013","journal-title":"Clin J Am Soc Nephrol"},{"key":"R6-30-20230208","doi-asserted-by":"crossref","first-page":"2261","DOI":"10.1038\/sj.ki.5000437","article-title":"NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak.","volume":"69","author":"Lapointe","year":"2006","journal-title":"Kidney Int"},{"key":"R7-30-20230208","doi-asserted-by":"crossref","first-page":"3504","DOI":"10.1093\/ndt\/gfq221","article-title":"Involvement of claudin 3 and claudin 4 in idiopathic infantile hypercalcaemia: a novel hypothesis?","volume":"25","author":"Lameris","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"R8-30-20230208","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1007\/s00232-005-0796-x","article-title":"Functionally important residues in the predicted 3(rd) transmembrane domain of the type IIa sodium-phosphate co-transporter (NaPi-IIa).","volume":"206","author":"Virkki","year":"2005","journal-title":"J Membr Biol"},{"key":"R9-30-20230208","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s00424-013-1418-6","article-title":"The SLC34 family of sodium-dependent phosphate transporters.","volume":"466","author":"Wagner","year":"2014","journal-title":"Pflugers Arch"},{"key":"R10-30-20230208","doi-asserted-by":"crossref","first-page":"5372","DOI":"10.1073\/pnas.95.9.5372","article-title":"Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.","volume":"95","author":"Beck","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R11-30-20230208","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1681\/ASN.2008020177","article-title":"Type IIc sodium-dependent phosphate transporter regulates calcium metabolism.","volume":"20","author":"Segawa","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R12-30-20230208","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1086\/499409","article-title":"SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.","volume":"78","author":"Bergwitz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R13-30-20230208","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/499410","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.","volume":"78","author":"Lorenz-Depiereux","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R14-30-20230208","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1016\/j.bone.2012.02.015","article-title":"Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.","volume":"50","author":"Yu","year":"2012","journal-title":"Bone"},{"key":"R15-30-20230208","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1681\/ASN.2013101085","article-title":"Mutations in SLC34A3\/NPT2c are associated with kidney stones and nephrocalcinosis.","volume":"25","author":"Dasgupta","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"R16-30-20230208","doi-asserted-by":"crossref","first-page":"5358","DOI":"10.1210\/en.2005-0777","article-title":"Dietary and serum phosphorus regulate fibroblast growth factor 23 expression and 1,25-dihydroxyvitamin D metabolism in mice.","volume":"146","author":"Perwad","year":"2005","journal-title":"Endocrinology"},{"key":"R17-30-20230208","doi-asserted-by":"crossref","first-page":"3144","DOI":"10.1210\/jc.2006-0021","article-title":"Dietary phosphorus regulates serum fibroblast growth factor-23 concentrations in healthy men.","volume":"91","author":"Antoniucci","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"R18-30-20230208","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1146\/annurev.nutr.25.050304.092642","article-title":"Regulation of phosphorus homeostasis by the type iia na\/phosphate cotransporter.","volume":"25","author":"Tenenhouse","year":"2005","journal-title":"Annu Rev Nutr"},{"key":"R19-30-20230208","doi-asserted-by":"crossref","first-page":"F675","DOI":"10.1152\/ajprenal.00362.2003","article-title":"1alpha-Hydroxylase gene ablation and Pi supplementation inhibit renal calcification in mice homozygous for the disrupted Npt2a gene.","volume":"286","author":"Tenenhouse","year":"2004","journal-title":"Am J Physiol Renal Physiol"},{"key":"R20-30-20230208","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1056\/NEJM198809293191307","article-title":"Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi\u2019s syndrome.","volume":"319","author":"Tieder","year":"1988","journal-title":"N Engl J Med"},{"key":"R21-30-20230208","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1056\/NEJMoa0905647","article-title":"A loss-of-function mutation in NaPi-IIa and renal Fanconi\u2019s syndrome.","volume":"362","author":"Magen","year":"2010","journal-title":"N Engl J Med"},{"key":"R22-30-20230208","doi-asserted-by":"crossref","first-page":"E2451","DOI":"10.1210\/jc.2014-1517","article-title":"Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.","volume":"99","author":"Rajagopal","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"R23-30-20230208","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1681\/ASN.2014040388","article-title":"Fourteen monogenic genes account for 15% of nephrolithiasis\/nephrocalcinosis.","volume":"26","author":"Halbritter","year":"2015","journal-title":"J Am Soc Nephrol"},{"key":"R24-30-20230208","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1056\/NEJMoa020028","article-title":"Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.","volume":"347","author":"Pri\u00e9","year":"2002","journal-title":"N Engl J Med"},{"key":"R25-30-20230208","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1359\/jbmr.2003.18.12.2135","article-title":"Functional characterization of two naturally occurring mutations in the human sodium-phosphate cotransporter type IIa.","volume":"18","author":"Virkki","year":"2003","journal-title":"J Bone Miner Res"},{"key":"R26-30-20230208","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1007\/s00467-011-1884-z","article-title":"Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.","volume":"26","author":"Kenny","year":"2011","journal-title":"Pediatr Nephrol"},{"key":"R27-30-20230208","first-page":"163","article-title":"Postnatal development of tubular phosphate reabsorption.","volume":"17","author":"Brodehl","year":"1982","journal-title":"Clin Nephrol"},{"key":"R28-30-20230208","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000184216","article-title":"Direct measurement of TP\/GFR: a simple and reliable parameter of renal phosphate handling.","volume":"44","author":"Stark","year":"1986","journal-title":"Nephron"},{"key":"R29-30-20230208","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees.","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat Genet"},{"key":"R30-30-20230208","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1007\/s00424-013-1261-9","article-title":"Conferring electrogenicity to the electroneutral phosphate cotransporter NaPi-IIc (SLC34A3) reveals an internal cation release step.","volume":"465","author":"Patti","year":"2013","journal-title":"Pflugers Arch"},{"key":"R31-30-20230208","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1007\/BF00382689","article-title":"Functional asymmetry of phosphate transport and its regulation in opossum kidney cells: phosphate transport.","volume":"416","author":"Reshkin","year":"1990","journal-title":"Pflugers Arch"},{"key":"R32-30-20230208","doi-asserted-by":"crossref","first-page":"20125","DOI":"10.1074\/jbc.272.32.20125","article-title":"Parathyroid hormone-dependent degradation of type II Na+\/Pi cotransporters.","volume":"272","author":"Pfister","year":"1997","journal-title":"J Biol Chem"},{"key":"R33-30-20230208","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1007\/s00424-008-0530-5","article-title":"Renal phosphaturia during metabolic acidosis revisited: molecular mechanisms for decreased renal phosphate reabsorption.","volume":"457","author":"Nowik","year":"2008","journal-title":"Pflugers Arch"},{"key":"R34-30-20230208","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1210\/jc.2013-4388","article-title":"Clinical utility of simultaneous quantitation of 25-hydroxyvitamin D and 24,25-dihydroxyvitamin D by LC-MS\/MS involving derivatization with DMEQ-TAD.","volume":"99","author":"Kaufmann","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"R35-30-20230208","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1016\/j.bpj.2014.01.043","article-title":"Structural fold and binding sites of the human Na+-phosphate cotransporter NaPi-II.","volume":"106","author":"Fenollar-Ferrer","year":"2014","journal-title":"Biophys J"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201602000-00030","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:26:34Z","timestamp":1786130794000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201602000-00030"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2014101025","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.725538175.793508153","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.725538175.793507221","asserted-by":"object"}]},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2]]}}}