{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:23:31Z","timestamp":1789903411188,"version":"4.0.1"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1681\/asn.2013101085","type":"journal-article","created":{"date-parts":[[2014,4,4]],"date-time":"2014-04-04T01:39:07Z","timestamp":1396575547000},"page":"2366-2375","source":"Crossref","is-referenced-by-count":151,"title":["Mutations in SLC34A3\/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis"],"prefix":"10.1681","volume":"25","author":[{"given":"Debayan","family":"Dasgupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Wee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Reyes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuwen","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Simm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amita","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl-Peter","family":"Schlingmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Janner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Biggin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Lazier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Gessner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dionisios","family":"Chrysis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamir","family":"Tuchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Jorge","family":"Baluarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Levine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dov","family":"Tiosano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Insogna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Hanley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas O.","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Hoppe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Konrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"S\u00e4vendahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig F.","family":"Munns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"J\u00fcppner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Bergwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-26-20230208","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":"R2-26-20230208","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":"R3-26-20230208","doi-asserted-by":"crossref","first-page":"4022","DOI":"10.1210\/jc.2005-2840","article-title":"Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.","volume":"91","author":"Ichikawa","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"R4-26-20230208","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJM198503073121003","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria.","volume":"312","author":"Tieder","year":"1985","journal-title":"N Engl J Med"},{"key":"R5-26-20230208","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1056\/NEJM198701153160302","article-title":"\u201cIdiopathic\u201d hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.","volume":"316","author":"Tieder","year":"1987","journal-title":"N Engl J Med"},{"key":"R6-26-20230208","doi-asserted-by":"crossref","first-page":"869","DOI":"10.4158\/EP.14.7.869","article-title":"A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: Report of a novel mutation in SLC34A3.","volume":"14","author":"Page","year":"2008","journal-title":"Endocr Pract"},{"key":"R7-26-20230208","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1055\/s-2008-1076716","article-title":"Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3\/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.","volume":"117","author":"Kremke","year":"2009","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"R8-26-20230208","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1002\/ajmg.a.33832","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3\/NaPi-IIc mutation.","volume":"155A","author":"Phulwani","year":"2011","journal-title":"Am J Med Genet A"},{"key":"R9-26-20230208","doi-asserted-by":"crossref","first-page":"F371","DOI":"10.1152\/ajprenal.00090.2008","article-title":"A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.","volume":"295","author":"Jaureguiberry","year":"2008","journal-title":"Am J Physiol Renal Physiol"},{"key":"R10-26-20230208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-5-1","article-title":"Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: A case report.","volume":"5","author":"Mejia-Gaviria","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"R11-26-20230208","doi-asserted-by":"crossref","first-page":"4433","DOI":"10.1210\/jc.2009-1535","article-title":"Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3\/type IIc sodium-phosphate cotransporter: Presentation as hypercalciuria and nephrolithiasis.","volume":"94","author":"Tencza","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"R12-26-20230208","first-page":"e86","article-title":"Kidney stones: A global picture of prevalence, incidence, and associated risk factors.","volume":"12","author":"Romero","year":"2010","journal-title":"Rev Urol"},{"key":"R13-26-20230208","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1097\/PEC.0b013e3182228f10","article-title":"Renal stones: Evolving epidemiology and management.","volume":"27","author":"Schissel","year":"2011","journal-title":"Pediatr Emerg Care"},{"key":"R14-26-20230208","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":"R17-26-20230208","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ng1905","article-title":"Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.","volume":"38","author":"Feng","year":"2006","journal-title":"Nat Genet"},{"key":"R18-26-20230208","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1038\/ng1868","article-title":"DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.","volume":"38","author":"Lorenz-Depiereux","year":"2006","journal-title":"Nat Genet"},{"key":"R19-26-20230208","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2010.01.006","article-title":"Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.","volume":"86","author":"Lorenz-Depiereux","year":"2010","journal-title":"Am J Hum Genet"},{"key":"R20-26-20230208","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000349989","article-title":"Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.","volume":"122","author":"Jaureguiberry","year":"2012","journal-title":"Nephron, Physiol"},{"key":"R21-26-20230208","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.cbpb.2011.04.003","article-title":"Characterization of sarcoplasmic calcium binding protein (SCP) variants from freshwater crayfish Procambarus clarkii.","volume":"160","author":"White","year":"2011","journal-title":"Comp Biochem Physiol B Biochem Mol Biol"},{"key":"R22-26-20230208","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":"R23-26-20230208","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing.","volume":"467","author":"Abecasis","year":"2010","journal-title":"Nature"},{"key":"R24-26-20230208","doi-asserted-by":"crossref","first-page":"D173","DOI":"10.1093\/nar\/gkj158","article-title":"Database resources of the National Center for Biotechnology Information.","volume":"34","author":"Wheeler","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"R25-26-20230208","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations.","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"R26-26-20230208","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.bone.2012.12.003","article-title":"Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.","volume":"53","author":"Braithwaite","year":"2013","journal-title":"Bone"},{"key":"R27-26-20230208","first-page":"529","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria: Case report.","volume":"32","author":"Areses-Trapote","year":"2012","journal-title":"Nefrologia"},{"key":"R28-26-20230208","doi-asserted-by":"crossref","first-page":"89","DOI":"10.4274\/jcrpe.601","article-title":"SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.","volume":"4","author":"Hasani-Ranjbar","year":"2012","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"R29-26-20230208","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bone.2013.10.018","article-title":"Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.","volume":"59","author":"Ichikawa","year":"2014","journal-title":"Bone"},{"key":"R30-26-20230208","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00774-007-0776-6","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria: A study for the phosphate transporter gene type IIc and osteoblastic function.","volume":"25","author":"Yamamoto","year":"2007","journal-title":"J Bone Miner Metab"},{"key":"R31-26-20230208","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1007\/s00467-008-0807-0","article-title":"Genetic causes of hypercalciuric nephrolithiasis.","volume":"24","author":"Stechman","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"R32-26-20230208","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician\u2019s guide to X-linked hypophosphatemia.","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res"},{"key":"R33-26-20230208","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1097\/00008480-200404000-00013","article-title":"The molecular basis of kidney stones.","volume":"16","author":"Langman","year":"2004","journal-title":"Curr Opin Pediatr"},{"key":"R34-26-20230208","doi-asserted-by":"crossref","first-page":"e1001039","DOI":"10.1371\/journal.pgen.1001039","article-title":"Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.","volume":"6","author":"Gudbjartsson","year":"2010","journal-title":"PLoS Genet"},{"key":"R35-26-20230208","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":"R36-26-20230208","doi-asserted-by":"crossref","first-page":"e1001281","DOI":"10.1371\/journal.pgen.1001281","article-title":"Application of a new method for GWAS in a related case\/control sample with known pedigree structure: Identification of new loci for nephrolithiasis.","volume":"7","author":"Tore","year":"2011","journal-title":"PLoS Genet"},{"key":"R37-26-20230208","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1681\/ASN.2009111104","article-title":"Common genetic variants associate with serum phosphorus concentration.","volume":"21","author":"Kestenbaum","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"R38-26-20230208","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1046\/j.1523-1755.2001.00796.x","article-title":"Frequency of renal phosphate leak among patients with calcium nephrolithiasis.","volume":"60","author":"Pri\u00e9","year":"2001","journal-title":"Kidney Int"},{"key":"R39-26-20230208","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.matbio.2006.10.003","article-title":"Ablation of vitamin D signaling rescues bone, mineral, and glucose homeostasis in Fgf-23 deficient mice.","volume":"26","author":"Hesse","year":"2007","journal-title":"Matrix Biol"},{"key":"R40-26-20230208","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/36285","article-title":"Mutation of the mouse klotho gene leads to a syndrome resembling ageing.","volume":"390","author":"Kuro-o","year":"1997","journal-title":"Nature"},{"key":"R41-26-20230208","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/jbmr.340","article-title":"A clinician's guide to X-linked hypophosphatemia.","volume":"26","author":"Carpenter","year":"2011","journal-title":"J Bone Miner Res"},{"key":"R42-26-20230208","doi-asserted-by":"crossref","first-page":"101","DOI":"10.5858\/2006-130-101-RFANAW","article-title":"Renal failure and nephrocalcinosis associated with oral sodium phosphate bowel cleansing: clinical patterns and renal biopsy findings.","volume":"130","author":"Gonlusen","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"R43-26-20230208","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0009-8981(77)90059-6","article-title":"A simple slide-rule method for the assessment of renal tubular reaborption of phosphate in man.","volume":"81","author":"Walton","year":"1977","journal-title":"Clin Chim Acta"},{"key":"R44-26-20230208","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/BF00865491","article-title":"Assessment and interpretation of the tubular threshold for phosphate in infants and children.","volume":"8","author":"Alon","year":"1994","journal-title":"Pediatr Nephrol"},{"key":"R45-26-20230208","first-page":"163","article-title":"Postnatal development of tubular phosphate reabsorption.","volume":"17","author":"Brodehl","year":"1982","journal-title":"Clin Nephrol"},{"key":"R46-26-20230208","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/adc.57.3.217","article-title":"Renal threshold phosphate concentration (TmPO4\/GFR).","volume":"57","author":"Kruse","year":"1982","journal-title":"Arch Dis Child"},{"key":"R47-26-20230208","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/MED.0b013e328334f041","article-title":"Regulation of calcium homeostasis and bone metabolism in the fetus and neonate.","volume":"17","author":"Mitchell","year":"2010","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"R48-26-20230208","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/clinchem\/28.8.1735","article-title":"A multi-stage Gaussian transformation algorithm for clinical laboratory data.","volume":"28","author":"Boyd","year":"1982","journal-title":"Clin Chem"},{"key":"R49-26-20230208","first-page":"138","article-title":"The resurgence of the importance of vitamin D in bone health.","volume":"17","author":"Lee","year":"2008","journal-title":"Asia Pac J Clin Nutr"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201410000-00026","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:24:12Z","timestamp":1786130652000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201410000-00026"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":47,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2013101085","relation":{},"ISSN":["1046-6673"],"issn-type":[{"value":"1046-6673","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]}}}