{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:13:51Z","timestamp":1778634831673,"version":"3.51.4"},"reference-count":26,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100011913","name":"Kaohsiung Veterans General Hospital","doi-asserted-by":"publisher","award":["VGHKS110-137"],"award-info":[{"award-number":["VGHKS110-137"]}],"id":[{"id":"10.13039\/501100011913","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Experimental Cell Research"],"published-print":{"date-parts":[[2022,5]]},"DOI":"10.1016\/j.yexcr.2022.113080","type":"journal-article","created":{"date-parts":[[2022,2,19]],"date-time":"2022-02-19T10:09:14Z","timestamp":1645265354000},"page":"113080","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A new missense mutation of calcium sensing receptor with isoleucine replaced by serine at codon 857 leading to type V Bartter syndrome"],"prefix":"10.1016","volume":"414","author":[{"given":"Kang-Ju","family":"Chou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Yang","family":"Hsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien-Wei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hsin-Jao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Hsiang","family":"Ou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9508-8396","authenticated-orcid":false,"given":"Chien-Liang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Po-Tsang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua-Chang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.yexcr.2022.113080_bib1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/ng0696-183","article-title":"Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2","volume":"13","author":"Simon","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2022.113080_bib2","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/ng1096-152","article-title":"Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK","volume":"14","author":"Simon","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2022.113080_bib3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1038\/ng1097-171","article-title":"Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III","volume":"17","author":"Simon","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2022.113080_bib4","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng752","article-title":"Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure","volume":"29","author":"Birkenh\u00e4ger","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.yexcr.2022.113080_bib5","doi-asserted-by":"crossref","first-page":"2259","DOI":"10.1097\/01.ASN.0000025781.16723.68","article-title":"Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome","volume":"13","author":"Vargas-Poussou","year":"2002","journal-title":"J. Am. Soc. Nephrol."},{"key":"10.1016\/j.yexcr.2022.113080_bib6","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/S0140-6736(02)09842-2","article-title":"Association between activating mutations of calcium-sensing receptor and Bartter's syndrome","volume":"360","author":"Watanabe","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.yexcr.2022.113080_bib7","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1093\/joneph\/19.4.525","article-title":"Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome","volume":"19","author":"Vezzoli","year":"2006","journal-title":"J. Nephrol."},{"key":"10.1016\/j.yexcr.2022.113080_bib8","doi-asserted-by":"crossref","first-page":"C1412","DOI":"10.1152\/ajpcell.2001.280.6.C1412","article-title":"Calcium-sensing receptor activation induces intracellular calcium oscillations","volume":"280","author":"Breitwieser","year":"2001","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.yexcr.2022.113080_bib9","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1016\/j.juro.2008.07.023","article-title":"Urine derived cells are a potential source for urological tissue reconstruction","volume":"180","author":"Zhang","year":"2008","journal-title":"J. Urol."},{"key":"10.1016\/j.yexcr.2022.113080_bib10","doi-asserted-by":"crossref","first-page":"1840","DOI":"10.1002\/stem.1424","article-title":"Multipotential differentiation of human urine-derived stem cells: potential for therapeutic applications in urology","volume":"31","author":"Bharadwaj","year":"2013","journal-title":"Stem Cell."},{"key":"10.1016\/j.yexcr.2022.113080_bib11","doi-asserted-by":"crossref","first-page":"3440","DOI":"10.1016\/S0021-9258(19)83641-4","article-title":"A new generation of Ca2+ indicators with greatly improved fluorescence properties","volume":"260","author":"Grynkiewicz","year":"1985","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2022.113080_bib12","doi-asserted-by":"crossref","first-page":"R127","DOI":"10.1530\/JME-16-0124","article-title":"Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis","volume":"57","author":"Hannan","year":"2016","journal-title":"J. Mol. Endocrinol."},{"key":"10.1016\/j.yexcr.2022.113080_bib13","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.beem.2013.04.007","article-title":"Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism","volume":"27","author":"Hannan","year":"2013","journal-title":"Best Pract. Res. Clin. Endocrinol. Metabol."},{"key":"10.1016\/j.yexcr.2022.113080_bib14","doi-asserted-by":"crossref","first-page":"E363","DOI":"10.1210\/jc.2013-3430","article-title":"Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia","volume":"99","author":"Kinoshita","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.yexcr.2022.113080_bib15","doi-asserted-by":"crossref","first-page":"C103","DOI":"10.1152\/ajpcell.1996.271.1.C103","article-title":"Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL","volume":"271","author":"Wang","year":"1996","journal-title":"Am. J. Physiol."},{"key":"10.1016\/j.yexcr.2022.113080_bib16","doi-asserted-by":"crossref","first-page":"F553","DOI":"10.1152\/ajprenal.00577.2014","article-title":"Regulation of calcium reabsorption along the rat nephron: a modeling study","volume":"308","author":"Edwards","year":"2015","journal-title":"Am. J. Physiol. Ren. Physiol."},{"key":"10.1016\/j.yexcr.2022.113080_bib17","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/366575a0","article-title":"Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid","volume":"366","author":"Brown","year":"1993","journal-title":"Nature"},{"key":"10.1016\/j.yexcr.2022.113080_bib18","doi-asserted-by":"crossref","first-page":"23605","DOI":"10.1074\/jbc.273.36.23605","article-title":"Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of CaR-transfected HEK293 cells","volume":"273","author":"Bai","year":"1998","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2022.113080_bib19","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.beem.2013.02.009","article-title":"The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites","volume":"27","author":"Hendy","year":"2013","journal-title":"Best Pract. Res. Clin. Endocrinol. Metabol."},{"key":"10.1016\/j.yexcr.2022.113080_bib20","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abg1483","article-title":"Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor","volume":"7","author":"Wen","year":"2021","journal-title":"Sci. Adv."},{"key":"10.1016\/j.yexcr.2022.113080_bib21","doi-asserted-by":"crossref","first-page":"29547","DOI":"10.1074\/jbc.M910023199","article-title":"Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor","volume":"275","author":"Jensen","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2022.113080_bib22","doi-asserted-by":"crossref","first-page":"5113","DOI":"10.1074\/jbc.M413403200","article-title":"A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+","volume":"280","author":"Hu","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.yexcr.2022.113080_bib23","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/nature13396","article-title":"Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain","volume":"511","author":"Dor\u00e9","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.yexcr.2022.113080_bib24","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/s41586-021-03691-0","article-title":"Asymmetric activation of the calcium-sensing receptor homodimer","volume":"595","author":"Gao","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.yexcr.2022.113080_bib25","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.yexcr.2022.113080_bib26","doi-asserted-by":"crossref","first-page":"2476","DOI":"10.1056\/NEJMoa1300253","article-title":"Mutations affecting G-protein subunit \u03b111 in hypercalcemia and hypocalcemia","volume":"368","author":"Nesbit","year":"2013","journal-title":"N. Engl. J. Med."}],"container-title":["Experimental Cell Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482722000738?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0014482722000738?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:48:41Z","timestamp":1778633321000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0014482722000738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["S0014482722000738"],"URL":"https:\/\/doi.org\/10.1016\/j.yexcr.2022.113080","relation":{},"ISSN":["0014-4827"],"issn-type":[{"value":"0014-4827","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A new missense mutation of calcium sensing receptor with isoleucine replaced by serine at codon 857 leading to type V Bartter syndrome","name":"articletitle","label":"Article Title"},{"value":"Experimental Cell Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yexcr.2022.113080","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"113080"}}