{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:17Z","timestamp":1789179437319,"version":"build-2803163510"},"reference-count":14,"publisher":"Japan Endocrine Society","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2007]]},"DOI":"10.1507\/endocrj.k06-204","type":"journal-article","created":{"date-parts":[[2008,2,26]],"date-time":"2008-02-26T01:48:17Z","timestamp":1203990497000},"page":"1003-1007","source":"Crossref","is-referenced-by-count":31,"title":["Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1"],"prefix":"10.1507","volume":"54","author":[{"given":"Masanori","family":"ADACHI","sequence":"first","affiliation":[{"name":"Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumi","family":"ASAKURA","sequence":"additional","affiliation":[{"name":"Department of Endocrinology & Metabolism, Clinical Research Institute, Kanagawa Children's Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiaki","family":"SATO","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Kanagawa Children's Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"TAJIMA","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hokkaido University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeo","family":"NAKAJIMA","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Sapporo City General Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"YAMAMOTO","sequence":"additional","affiliation":[{"name":"International Research and Educational Institute for Integrated Medical Science, Tokyo Women's Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"FUJIEDA","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Asahikawa Medical College"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"386","reference":[{"key":"1","unstructured":"1. Landau D (2004) Potassium handling in health and disease: lessons from inherited tubulopathies. Pediatr Endocrinol Rev 2: 203-208."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Kleta R, Bockenhauer D (2006) Bartter syndromes and other salt-losing tubulopathies. Nephron Physiol 104: 73-80.","DOI":"10.1159\/000094001"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-183"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschenes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C (1998) Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet 62: 1332-1340.","DOI":"10.1086\/301872"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Tajima T, Nakae J, Fujieda K (2003) Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol 18: 1280-1282.","DOI":"10.1007\/s00467-003-1304-0"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-152"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/35107099"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Kurtz CL, Karolyi L, Seyberth HW, Koch MC, Vagas R, Feldmann D, Vollmer M, Knoers NV, Madrigal G, Guay-Woodford LM (1997) A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. J Am Soc Nephrol 8: 1706-1711.","DOI":"10.1681\/ASN.V8111706"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1007\/PL00013418"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Pressler CA, Heinzinger J, Jeck N, Waldegger P, Pechmann U, Reinalter S, Konrad M, Beetz R, Seyberth HW, Waldegger S (2006) Late-onset manifestation of antenatal bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. J Am Soc Nephrol 17: 2136-2142.","DOI":"10.1681\/ASN.2005101071"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Xu JC, Lytle C, Zhu TT, Payne JA, Benz E Jr, Forbush B 3rd (1994) Molecular cloning and functional expression of the bumetanide-sensitive Na-K-Cl cotransporter. Proc Natl Acad Sci USA 91: 2201-2205.","DOI":"10.1073\/pnas.91.6.2201"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Hirakawa M, Tanaka T, Hashimoto Y, Kuroda M, Takagi T, Nakamura Y (2002) JSNP: a database of common gene variations in the Japanese population. Nucleic Acids Res 30: 158-162.","DOI":"10.1093\/nar\/30.1.158"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Shaer AJ (2001) Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci 322: 316-332.","DOI":"10.1097\/00000441-200112000-00004"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00163.x"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/54\/6\/54_K06-204\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T19:08:43Z","timestamp":1630782523000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.jstage.jst.go.jp\/article\/endocrj\/54\/6\/54_K06-204\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.k06-204","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}