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Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. <i>Trans Assoc Am Physicians <\/i>79: 221-235."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, et al. (1996) Gitelman&rsquo;s variant of Bartter&rsquo;s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. <i>Nat Genet<\/i> 12: 24-30.","DOI":"10.1038\/ng0196-24"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Knoers NV, Levtchenko EN (2008) Gitelman syndrome. <i>Orphanet J Rare Dis<\/i> 3: 22.","DOI":"10.1186\/1750-1172-3-22"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, et al. (1994) Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. <i>J Biol Chem <\/i>269: 17713-17722.","DOI":"10.1016\/S0021-9258(17)32499-7"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, et al. (2002) Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman&rsquo;s syndrome. <i>J Am Soc Nephrol<\/i> 13: 1442-1448.","DOI":"10.1097\/01.ASN.0000017904.77985.03"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Zhao Z, Pei Y, Huang X, Liu Y, Yang W, et al. (2013) Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia. <i>Am J Nephrol<\/i> 37: 541-548.","DOI":"10.1159\/000350886"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Groenestege WM, Th&eacute;bault S, van der Wijst J, van den Berg D, Janssen R, et al. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. <i>J Clin Invest <\/i>117: 2260-2267.","DOI":"10.1172\/JCI31680"},{"key":"8","unstructured":"8. Bianchetti MG, Bettinelli A, Casez JP, Basilico E, Metta MG, et al. (1995) Evidence for disturbed regulation of calciotropic hormone metabolism in gitelman syndrome. <i>J Clin Endocrinol Metab <\/i>80: 224-228."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Bettinelli A, Basilico E, Metta MG, Borella P, Jaeger P, et al. (1999) Magnesium supplementation in Gitelman syndrome. <i>Pediatr Nephrol <\/i>13: 311-314.","DOI":"10.1007\/s004670050615"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Graziani G, Fedeli C, Moroni L, Cosmai L, Badalamenti S, et al. (2010) Gitelman syndrome: pathophysiological and clinical aspects. <i>QJM <\/i>103: 741-748.","DOI":"10.1093\/qjmed\/hcq123"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Lin SH, Shiang JC, Huang CC, Yang SS, Hsu YJ, et al. (2005) Phenotype and genotype analysis in Chinese patients with Gitelman&rsquo;s syndrome. <i>J Clin Endocrinol Metab <\/i>90: 2500-2507.","DOI":"10.1210\/jc.2004-1905"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Verlander JW, Tran TM, Zhang L, Kaplan MR, Hebert SC (1998) Estradiol enhances thiazide-sensitive NaCl cotransporter density in the apical plasma membrane of the distal convoluted tubule in ovariectomized rats. <i>J Clin Invest<\/i> 101: 1661-1669.","DOI":"10.1172\/JCI601"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB (2001) Gitelman&rsquo;s syndrome revisited: an evaluation of symptoms and health-related quality of life. <i>Kidney Int <\/i>59: 710-717.","DOI":"10.1046\/j.1523-1755.2001.059002710.x"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Cheng NL, Kao MC, Hsu YD, Lin SH (2003) Novel thiazide-sensitive Na-Cl cotransporter mutation in a Chinese patient with Gitelman&rsquo;s syndrome presenting as hypokalaemic paralysis. <i>Nephrol Dial Transplant <\/i>18: 1005-1008.","DOI":"10.1093\/ndt\/gfg073"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, et al. (2002) Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. <i>Endocr<\/i> J 49: 91-96.","DOI":"10.1507\/endocrj.49.91"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Lin SH, Cheng NL, Hsu YJ, Halperin ML (2004) Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium\/chloride cotransporter. <i>Am J Kidney Dis<\/i> 43: 304-312.","DOI":"10.1053\/j.ajkd.2003.10.018"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, et al. (2011) Spectrum of mutations in Gitelman syndrome. <i>J Am Soc Nephrol<\/i> 22: 693-703.","DOI":"10.1681\/ASN.2010090907"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Tago N, Kokubo Y, Inamoto N, Naraba H, Tomoike H, et al. (2004) A high prevalence of Gitelman&rsquo;s syndrome mutations in Japanese. <i>Hypertens Res<\/i> 27: 327-331.","DOI":"10.1291\/hypres.27.327"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Reissinger A, Ludwig M, Utsch B, Pr&ouml;mse A, Baulmann J, et al. (2002) Novel NCCT gene mutations as a cause of Gitelman&rsquo;s syndrome and a systematic review of mutant and polymorphic NCCT alleles. <i>Kidney Blood Press Res<\/i> 25: 354-362.","DOI":"10.1159\/000068695"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Shao L, Ren H, Wang W, Zhang W, Feng X, et al. (2008) Novel SLC12A3 mutations in Chinese patients with Gitelman&rsquo;s syndrome. <i>Nephron Physiol<\/i> 108: p29-36.","DOI":"10.1159\/000117815"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Keszei AP, Tisl&eacute;r A, Backx PH, Andrulis IL, Bull SB, et al. (2007) Molecular variants of the thiazide-sensitive Na<sup>+<\/sup>-Cl<sup>-<\/sup> cotransporter in hypertensive families. <i>J Hypertens <\/i>25: 2074-2081.","DOI":"10.1097\/HJH.0b013e3282a9be1b"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Yang CL, Angell J, Mitchell R, Ellison DH (2003) WNK kinases regulate thiazide-sensitive Na-Cl cotransport<i>. J Clin Invest <\/i>111: 1039-1045.","DOI":"10.1172\/JCI17443"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Wilson FH, Kahle KT, Sabath E, Lalioti MD, Rapson AK, et al. (2003) Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. <i>Proc Natl Acad Sci USA <\/i>100: 680-684.","DOI":"10.1073\/pnas.242735399"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Yang SS, Lo YF, Yu IS, Lin SW, Chang TH, et al. (2010) Generation and analysis of the thiazide-sensitive Na+ -Cl- cotransporter (Ncc\/Slc12a3) Ser707X knockin mouse as a model of Gitelman syndrome. <i>Hum Mutat <\/i>31: 1304-1315.","DOI":"10.1002\/humu.21364"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Lemmink HH, Knoers NV, K&aacute;rolyi L, van Dijk H, Niaudet P, et al. (1998) Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. <i>Kidney Int <\/i>54: 720-730.","DOI":"10.1046\/j.1523-1755.1998.00070.x"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","deposited":{"date-parts":[[2022,4,18]],"date-time":"2022-04-18T17:14:19Z","timestamp":1650302059000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/62\/1\/62_EJ14-0289\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej14-0289","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}