{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T11:23:47Z","timestamp":1789903427781,"version":"4.0.1"},"reference-count":30,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,7]],"date-time":"2015-12-07T00:00:00Z","timestamp":1449446400000},"content-version":"vor","delay-in-days":3476,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2006,6]]},"DOI":"10.1038\/sj.ki.5000437","type":"journal-article","created":{"date-parts":[[2006,5,10]],"date-time":"2006-05-10T15:25:01Z","timestamp":1147274701000},"page":"2261-2267","source":"Crossref","is-referenced-by-count":95,"title":["NPT2a gene variation in calcium nephrolithiasis with renal phosphate leak"],"prefix":"10.1016","volume":"69","author":[{"given":"J.-Y.","family":"Lapointe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Tessier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Paquette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Wallendorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Coady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Pichette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Bonnardeaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/sj.ki.5000437_bb0010","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1046\/j.1523-1755.2001.0600031141.x","article-title":"A family-based study of metabolic phenotypes in calcium urolithiasis","volume":"60","author":"Tessier","year":"2001","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5000437_bb0015","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/S0002-9343(99)80080-1","article-title":"Ambulatory evaluation of nephrolithiasis: An update of a 1980 protocol","volume":"98","author":"Levy","year":"1995","journal-title":"Am J Med"},{"key":"10.1038\/sj.ki.5000437_bb0020","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1111\/j.1523-1755.2005.00490.x","article-title":"Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene","volume":"68","author":"Loredo-Osti","year":"2005","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5000437_bb0025","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1056\/NEJM197902153000703","article-title":"Familial idiopathic hypercalciuria","volume":"300","author":"Coe","year":"1979","journal-title":"N Engl J Med"},{"key":"10.1038\/sj.ki.5000437_bb0030","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1042\/cs1030259","article-title":"Genetic contribution to renal function and electrolyte balance: A twin study","volume":"103","author":"Hunter","year":"2002","journal-title":"Clin Sci (London)"},{"key":"10.1038\/sj.ki.5000437_bb0035","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/BF02201856","article-title":"Genes in idiopathic calcium oxalate stone disease","volume":"15","author":"Goodman","year":"1997","journal-title":"World J Urol"},{"key":"10.1038\/sj.ki.5000437_bb0040","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":"Prie","year":"2001","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5000437_bb0045","first-page":"473","article-title":"Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance","volume":"87","author":"Wrong","year":"1994","journal-title":"Q J Med"},{"key":"10.1038\/sj.ki.5000437_bb0050","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":"10.1038\/sj.ki.5000437_bb0055","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1152\/physrev.2000.80.4.1373","article-title":"Proximal tubular phosphate reabsorption: molecular mechanisms","volume":"80","author":"Murer","year":"2000","journal-title":"Physiol Rev"},{"key":"10.1038\/sj.ki.5000437_bb0060","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":"Prie","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1038\/sj.ki.5000437_bb0065","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":"10.1038\/sj.ki.5000437_bb0070","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0079-6107(02)00015-9","article-title":"Forging the link between structure and function of electrogenic cotransporters: the renal type IIa Na+\/Pi cotransporter as a case study","volume":"80","author":"Forster","year":"2002","journal-title":"Prog Biophys Mol Biol"},{"key":"10.1038\/sj.ki.5000437_bb0075","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1007\/BF00235797","article-title":"Electrogenic properties of the cloned Na+\/glucose cotransporter: I. Voltage-clamp studies","volume":"125","author":"Parent","year":"1992","journal-title":"J Membr Biol"},{"key":"10.1038\/sj.ki.5000437_bb0080","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/BF00235798","article-title":"Electrogenic properties of the cloned Na+\/glucose cotransporter: II. A transport model under nonrapid equilibrium conditions","volume":"125","author":"Parent","year":"1992","journal-title":"J Membr Biol"},{"key":"10.1038\/sj.ki.5000437_bb0085","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1085\/jgp.117.6.533","article-title":"Cysteine mutagenesis reveals novel structure\u2013function features within the predicted third extracellular loop of the type IIa Na(+)\/P(i) cotransporter","volume":"117","author":"Lambert","year":"2001","journal-title":"J Gen Physiol"},{"key":"10.1038\/sj.ki.5000437_bb0090","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/ng1285","article-title":"Complete sequencing and characterization of 21, 243 full-length human cDNAs","volume":"36","author":"Ota","year":"2004","journal-title":"Nat Genet"},{"key":"10.1038\/sj.ki.5000437_bb0095","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0092-8674(82)90148-9","article-title":"On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions","volume":"29","author":"Albertini","year":"1982","journal-title":"Cell"},{"key":"10.1038\/sj.ki.5000437_bb0100","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1146\/annurev.ge.24.120190.001201","article-title":"Frameshift mutation: determinants of specificity","volume":"24","author":"Ripley","year":"1990","journal-title":"Annu Rev Genet"},{"key":"10.1038\/sj.ki.5000437_bb0105","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 [in process citation]","volume":"95","author":"Beck","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/sj.ki.5000437_bb0110","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1681\/ASN.V123507","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na\/Pi cotransporter NPT2 gene","volume":"12","author":"Jones","year":"2001","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5000437_bb0115","doi-asserted-by":"crossref","first-page":"11470","DOI":"10.1073\/pnas.162232699","article-title":"Targeted disruption of the mouse NHERF-1 gene promotes internalization of proximal tubule sodium-phosphate cotransporter type IIa and renal phosphate wasting","volume":"99","author":"Shenolikar","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/sj.ki.5000437_bb0120","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1007\/s00240-003-0353-y","article-title":"Renal phosphate leak in patients with idiopathic hypercalciuria and calcium nephrolithiasis","volume":"31","author":"Negri","year":"2003","journal-title":"Urol Res"},{"key":"10.1038\/sj.ki.5000437_bb0125","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1681\/ASN.V93425","article-title":"The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families","volume":"9","author":"Scott","year":"1998","journal-title":"J Am Soc Nephrol"},{"key":"10.1038\/sj.ki.5000437_bb0130","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1016\/S0022-5347(05)65816-8","article-title":"Exclusion mapping of major crystallization inhibitors in idiopathic calcium urolithiasis","volume":"166","author":"Cailhier","year":"2001","journal-title":"J Urol"},{"key":"10.1038\/sj.ki.5000437_bb0135","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1046\/j.1523-1755.2000.00138.x","article-title":"Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis","volume":"58","author":"Petrucci","year":"2000","journal-title":"Kidney Int"},{"key":"10.1038\/sj.ki.5000437_bb0140","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/nature02168","volume":"426","author":"The International HapMap Project","year":"2003","journal-title":"Nature"},{"key":"10.1038\/sj.ki.5000437_bb0145","doi-asserted-by":"crossref","first-page":"35219","DOI":"10.1074\/jbc.M204321200","article-title":"Identification of a novel Na+\/myo-inositol cotransporter","volume":"277","author":"Coady","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1038\/sj.ki.5000437_bb0150","doi-asserted-by":"crossref","first-page":"3796","DOI":"10.1073\/pnas.071245198","article-title":"Local osmotic gradients drive the water flux associated with Na(+)\/glucose cotransport","volume":"98","author":"Duquette","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1038\/sj.ki.5000437_bb0155","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1111\/j.1469-7793.1999.00359.x","article-title":"Functional expression of tagged human Na+-glucose cotransporter in Xenopus laevis oocytes","volume":"520","author":"Bissonnette","year":"1999","journal-title":"J Physiol"}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815514452?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253815514452?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T02:18:14Z","timestamp":1627352294000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253815514452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["S0085253815514452"],"URL":"https:\/\/doi.org\/10.1038\/sj.ki.5000437","relation":{},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}