{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:15:47Z","timestamp":1791900947740,"version":"4.3.4"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1996,1,1]],"date-time":"1996-01-01T00:00:00Z","timestamp":820454400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1996,1]]},"DOI":"10.1038\/ng0196-24","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:06:39Z","timestamp":1092859599000},"page":"24-30","source":"Crossref","is-referenced-by-count":1007,"title":["Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na\u2013Cl cotransporter"],"prefix":"10.1038","volume":"12","author":[{"given":"David B.","family":"Simon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Johnson Bia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Ellison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona E.","family":"Karet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Morey Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivar","family":"Vaara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fujihiko","family":"Iwata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard M.","family":"Cushner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Koolen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco J.","family":"Gainza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hillel J.","family":"Gitelman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng019624_CR1","doi-asserted-by":"publisher","first-page":"8545","DOI":"10.1073\/pnas.92.19.8545","volume":"92","author":"RR Lifton","year":"1995","unstructured":"Lifton, R.R. Genetic determinants of human hypertension. Proc. Natl. Acad. Sci. USA. 92, 8545\u20138551 (1995).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng019624_CR2","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1016\/0002-9343(62)90214-0","volume":"33","author":"FC Bartter","year":"1962","unstructured":"Bartter, F.C., Pronove, P., Gill, J.R. & MacCardle, R.C. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am. J. Med. 33, 811\u2013828 (1962).","journal-title":"Am. J. Med."},{"key":"BFng019624_CR3","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1056\/NEJM196912252812601","volume":"281","author":"AD Goodman","year":"1969","unstructured":"Goodman, A.D., Vagnucci, A.M. & Hartroft, P.M. Pathogenesis of Bartter's syndrome. N. Eng. J. Med. 281, 1435\u20131439 (1969).","journal-title":"N. Eng. J. Med."},{"key":"BFng019624_CR4","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1038\/ki.1981.12","volume":"19","author":"MJ Dunn","year":"1981","unstructured":"Dunn, M.J. Prostaglandins and Bartter's syndrome. Kid. Int. 19, 86\u2013102 (1981).","journal-title":"Kid. Int."},{"key":"BFng019624_CR5","first-page":"738","volume":"74","author":"M Imai","year":"1969","unstructured":"Imai, M. et al. A case of Bartter's syndrome with abnormal renin response to salt load. J. Fed. 74, 738\u2013749 (1969).","journal-title":"J. Fed."},{"key":"BFng019624_CR6","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1161\/01.HYP.8.6.549","volume":"8","author":"RM Graham","year":"1986","unstructured":"Graham, R.M., Bloch, K.D., Delaney, V.B., Bourke, E. & Seidman, J.G. Bartter's syndrome and the atrial natriuretic factor gene. Hypertension. 8, 549\u2013551 (1986).","journal-title":"Hypertension."},{"key":"BFng019624_CR7","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1002\/ajmg.1320150110","volume":"15","author":"R Rodrigues Pereira","year":"1983","unstructured":"Rodrigues Pereira, R. & Van Wersch, J. Inheritance of Bartter's syndrome. Am. J. Med. Gen. 15, 79\u201384 (1983).","journal-title":"Am. J. Med. Gen."},{"key":"BFng019624_CR8","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/0002-9343(78)90050-5","volume":"64","author":"AB Silverberg","year":"1978","unstructured":"Silverberg, A.B., Mennes, P.A. & Cryer, R.E. Resistance to endogenous norepinephrine in Bartter's syndrome. Reversion during indomethacin administration. Am. J. Med. 64, 231\u2013235 (1978).","journal-title":"Am. J. Med."},{"key":"BFng019624_CR9","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/S0022-3476(05)80594-3","volume":"120","author":"A Bettinelli","year":"1992","unstructured":"Bettinelli, A. et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J. Pediatr. 120, 38\u201343 (1992).","journal-title":"J. Pediatr."},{"key":"BFng019624_CR10","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1111\/j.1442-200X.1993.tb03047.x","volume":"35","author":"R Iwata","year":"1993","unstructured":"Iwata, R, Hanawa, Y. & Takashima, H. Chronic hypomagnesemia and hypokalemia due to renal wasting in siblings. Acta Paed. Japonica. 35, 252\u2013257 (1993).","journal-title":"Acta Paed. Japonica."},{"key":"BFng019624_CR11","first-page":"33","volume":"42","author":"JE Marco-Franco","year":"1994","unstructured":"Marco-Franco, J.E., Morey, A., Ventura, C., Gasc\u00f3, J.M. & Alarcon, A. Long-term evolution and growth patterns in a family with Bartter's syndrome. Clin. Neph. 42, 33\u201337 (1994).","journal-title":"Clin. Neph."},{"key":"BFng019624_CR12","doi-asserted-by":"publisher","first-page":"340","DOI":"10.1159\/000187070","volume":"62","author":"S Zarraga Larrondo","year":"1992","unstructured":"Zarraga Larrondo, S. et al. Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case. Nephron. 62, 340\u2013344 (1992).","journal-title":"Nephron."},{"key":"BFng019624_CR13","first-page":"1515","volume":"21","author":"TJ Smilde","year":"1994","unstructured":"Smilde, T.J. et al. Familial hypokalemia\/hypomagnesemia and chondrocalcinosis. J. Rheum. 21, 1515\u20131519 (1994).","journal-title":"J. Rheum."},{"key":"BFng019624_CR14","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1159\/000181622","volume":"23","author":"AR Simopoulos","year":"1979","unstructured":"Simopoulos, A.R. Growth characteristics in patients with Bartter's syndrome. Nephron. 23, 130\u2013135 (1979).","journal-title":"Nephron."},{"key":"BFng019624_CR15","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1007\/978-1-4612-4758-6_8","volume-title":"Hormone Resistance and Other Endocrine Paradoxes","author":"MD Okusa","year":"1987","unstructured":"Okusa, M.D. & Bia, M.J. Bartter's syndrome. In Hormone Resistance and Other Endocrine Paradoxes, (eds. Cohen, R and Foa, P.) 231\u2013263 (Springer Verlag, New York, 1987)."},{"key":"BFng019624_CR16","first-page":"221","volume":"79","author":"HJ Gitelman","year":"1996","unstructured":"Gitelman, H.J., Graham, J.B. & Welt, L.G. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Phys. 79, 221\u2013235 (1996).","journal-title":"Trans. Assoc. Am. Phys."},{"key":"BFng019624_CR17","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1080\/00365599.1988.11690381","volume":"22","author":"A Rudin","year":"1988","unstructured":"Rudin, A., Aurrell, M. & Wilske, J. Low urinary calcium excretion in Bartter's syndrome. Scand. J. Urol. Nephrol. 22, 35\u201339 (1988).","journal-title":"Scand. J. Urol. Nephrol."},{"key":"BFng019624_CR18","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1016\/0272-6386(95)90562-6","volume":"25","author":"DM Clive","year":"1995","unstructured":"Clive, D.M. Bartter's syndrome: The unsolved puzzle. Am. J. Kid. Dis. 25, 813\u2013823 (1995).","journal-title":"Am. J. Kid. Dis."},{"key":"BFng019624_CR19","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1038\/ki.1994.431","volume":"46","author":"H Yoshida","year":"1994","unstructured":"Yoshida, H. et al. Angiotensin II type 1 receptor gene abnormality in a patient with Bartter's syndrome. Kid. Int. 46, 1505\u20131509 (1994).","journal-title":"Kid. Int."},{"key":"BFng019624_CR20","doi-asserted-by":"publisher","first-page":"886","DOI":"10.7326\/0003-4819-114-10-886","volume":"114","author":"DH Ellison","year":"1991","unstructured":"Ellison, D.H. The physiologic basis of diuretic synergism: its role in treating diuretic resistance. Ann. Int. Med. 114, 886\u2013894 (1991).","journal-title":"Ann. Int. Med."},{"key":"BFng019624_CR21","doi-asserted-by":"publisher","first-page":"2749","DOI":"10.1073\/pnas.90.7.2749","volume":"90","author":"G Gamba","year":"1993","unstructured":"Gamba, G. et al. Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electro-neutral sodium-chloride cotransporter. Proc. Natl. Acad. Sci. USA. 90, 2749\u20132753 (1993).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng019624_CR22","doi-asserted-by":"crossref","first-page":"17713","DOI":"10.1016\/S0021-9258(17)32499-7","volume":"269","author":"G Gamba","year":"1994","unstructured":"Gamba, G. et al. Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in the kidney. J. Biol. Chem. 269, 17713\u201317722 (1994).","journal-title":"J. Biol. Chem."},{"key":"BFng019624_CR23","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0694supp-246","volume":"7","author":"G Gyapay","year":"1994","unstructured":"Gyapay, G. et al. The 1993-94 G\u00e9n\u00e9thon human genetic linkage map. Nature Genet. 7, 246\u2013339 (1994).","journal-title":"Nature Genet."},{"key":"BFng019624_CR24","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1006\/geno.1994.1346","volume":"22","author":"YS Shen","year":"1994","unstructured":"Shen, Y.S. et al. A PCR-based genetic linkage map of human chromosome 16. Genomics. 22, 68\u201376 (1994).","journal-title":"Genomics."},{"key":"BFng019624_CR25","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1111\/j.0954-6820.1988.tb16755.x","volume":"224","author":"A Rudin","year":"1988","unstructured":"Rudin, A. Bartter's syndrome. A review of 28 patients followed for 10 years. Acta Med. Scand. 224, 165\u2013171 (1988).","journal-title":"Acta Med. Scand."},{"key":"BFng019624_CR26","first-page":"81","volume-title":"Hypertension: Pathophysiology, Diagnosis and Management","author":"R Ward","year":"1990","unstructured":"Ward, R. Familial aggregation and genetic epidemiology of blood pressure. In Hypertension: Pathophysiology, Diagnosis and Management, (eds Laragh, J.H. & Brenner, B.M.) 81\u2013100 (Raven Press, New York, 1990)."},{"key":"BFng019624_CR27","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/S0272-6386(12)80067-9","volume":"16","author":"HM Cushner","year":"1990","unstructured":"Cushner, H.M., Peller, T.R., Fried, T. & Delea, C.S. Does magnesium play a role in the hypokalemia of Bartter's syndrome? Am. J. Kid. Dis. 16, 495\u2013500 (1990).","journal-title":"Am. J. Kid. Dis."},{"key":"BFng019624_CR28","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1093\/ndt\/5.5.388","volume":"5","author":"JE Scoble","year":"1990","unstructured":"Scoble, J.E., Screaton, G.R. & Havard, C.W. Renal magnesium wasting in Bartter's syndrome. Neph. Dial. Transp. 5, 388\u2013390 (1990).","journal-title":"Neph. Dial. Transp."},{"key":"BFng019624_CR29","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1111\/j.1365-2362.1993.tb00744.x","volume":"23","author":"MMS Stahl","year":"1993","unstructured":"Stahl, M.M.S., Vaara, I., Hedner, P. & Ekman, R. Vasoactive peptides in Bartter's syndrome. Eur. J. Clin. Invest. 23, 80\u201383 (1993).","journal-title":"Eur. J. Clin. Invest."},{"key":"BFng019624_CR30","first-page":"43","volume":"18","author":"RAL Sutton","year":"1992","unstructured":"Sutton, R.A.L., Mavichak, V., Halabe, A. & Wilkins, G.E. Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner. Elect. Metab. 18, 43\u201351 (1992).","journal-title":"Miner. Elect. Metab."},{"key":"BFng019624_CR31","doi-asserted-by":"publisher","first-page":"5759","DOI":"10.1073\/pnas.78.9.5759","volume":"78","author":"G Bell","year":"1981","unstructured":"Bell, G., Karam, J. & Rutter, W. Polymorphic DNA region adjacent to the 5\u2032 end of the human insulin gene. Proc. Natl. Acad. Sci. USA 78, 5759\u20135763 (1981).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng019624_CR32","unstructured":"Oberm\u00fcller, N. et al.. Expression of the thiazide-sensitive cotransporter in rat and human kidney. Am. J. Physiol. (in the press)."},{"key":"BFng019624_CR33","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","volume":"132","author":"AR Feinberg","year":"1983","unstructured":"Feinberg, A.R. and Vogelstein, B.A. Techniques for radiolabeling DNA to high specific activity. Ann. Biochem. 132, 6\u201313 (1983).","journal-title":"Ann. Biochem."},{"key":"BFng019624_CR34","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/0092-8674(94)90250-X","volume":"79","author":"RA Shimkets","year":"1994","unstructured":"Shimkets, R.A. et al. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79, 407\u2013414 (1994).","journal-title":"Cell"},{"key":"BFng019624_CR35","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443\u20133446 (1984).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng019624_CR36","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"M Orita","year":"1989","unstructured":"Orita, M., Iwahana, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA. 86, 2766\u20132770 (1989).","journal-title":"Proc. Natl. Acad. Sci. USA."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0196-24","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0196-24.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0196-24.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:18:01Z","timestamp":1684441081000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0196-24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,1]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,1]]}},"alternative-id":["BFng019624"],"URL":"https:\/\/doi.org\/10.1038\/ng0196-24","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,1]]}}}