{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:11:42Z","timestamp":1787238702299,"version":"build-2736575974"},"reference-count":37,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T00:00:00Z","timestamp":1524614400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"DOI":"10.3389\/fendo.2018.00200","type":"journal-article","created":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T08:57:04Z","timestamp":1524646624000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia"],"prefix":"10.3389","volume":"9","author":[{"given":"Anne Qvist","family":"Rasmussen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niklas Rye","family":"J\u00f8rgensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Schwarz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,4,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1210\/jcem-56-3-572","article-title":"Four-parameter model of the sigmoidal relationship between parathyroid hormone release and extracellular calcium concentration in normal and abnormal parathyroid tissue","volume":"56","author":"Brown","year":"1983","journal-title":"J Clin Endocrinol Metab"},{"key":"B2","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/j.beem.2013.02.006","article-title":"Role of the calcium-sensing receptor in extracellular calcium homeostasis","volume":"27","author":"Brown","year":"2013","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"B3","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1152\/physiol.00019.2007","article-title":"Extracellular calcium and cAMP: second messengers as \u201cthird messengers\u201d?","volume":"22","author":"Hofer","year":"2007","journal-title":"Physiology (Bethesda)"},{"key":"B4","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/jceca.2003.10.017","article-title":"Calcium receptor-mediated intracellular signalling","volume":"35","author":"Ward","year":"2004","journal-title":"Cell Calcium"},{"key":"B5","doi-asserted-by":"publisher","first-page":"H1165","DOI":"10.1152\/ajpheart.00821.2005","article-title":"Calcium receptor is functionally expressed in rat neonatal ventricular cardiomyocytes","volume":"290","author":"Tfelt-Hansen","year":"2006","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/978-94-007-5561-1_5","article-title":"Intracellular calcium homeostasis and signaling","volume":"12","author":"Brini","year":"2013","journal-title":"Met Ions Life Sci"},{"key":"B7","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/nrneph.2016.59","article-title":"Localization and function of the renal calcium-sensing receptor","volume":"12","author":"Riccardi","year":"2016","journal-title":"Nat Rev Nephrol"},{"key":"B8","first-page":"G350","article-title":"Kinetic characteristics of calcium absorption and secretion by rat colon","volume":"240","author":"Favus","year":"1981","journal-title":"Am J Physiol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/jceca.2003.10.015","article-title":"Functions and roles of the extracellular Ca2+-sensing receptor in the gastrointestinal tract","volume":"35","author":"Hebert","year":"2004","journal-title":"Cell Calcium"},{"key":"B10","doi-asserted-by":"publisher","first-page":"2935","DOI":"10.1002\/jbmr.520","article-title":"Osteoblast extracellular Ca2+-sensing receptor regulates bone development, mineralization, and turnover","volume":"26","author":"Dvorak-Ewell","year":"2011","journal-title":"J Bone Miner Res"},{"key":"B11","first-page":"E195","article-title":"Regulation of acute parathyroid hormone release in normal humans: combined calcium and citrate clamp study","volume":"263","author":"Schwarz","year":"1992","journal-title":"Am J Physiol"},{"key":"B12","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1111\/j.1365-2362.1994.tb01106.x","article-title":"Inter-relations between the calcium set-points of Parfitt and Brown in primary hyperparathyroidism: a sequential citrate and calcium clamp study","volume":"24","author":"Schwarz","year":"1994","journal-title":"Eur J Clin Invest"},{"key":"B13","doi-asserted-by":"publisher","first-page":"s377","DOI":"10.274\/1068","article-title":"The calcium-sensing receptor in human disease","volume":"8","author":"Tfelt-Hansen","year":"2003","journal-title":"Front Biosci"},{"key":"B14","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1210\/jc.2013-2500","article-title":"Left-shifted relation between calcium and parathyroid hormone in Graves\u2019 disease","volume":"99","author":"Annerbo","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"key":"B15","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1046\/j.1365-2265.1998.00414.x","article-title":"Evidence for a role of intracellular stored parathyroid hormone in producing hysteresis of the PTH-calcium relationship in normal humans","volume":"48","author":"Schwarz","year":"1998","journal-title":"Clin Endocrinol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"e13662","DOI":"10.7554\/eLife.13662","article-title":"Structural mechanism of ligand activation in human calcium-sensing receptor","volume":"5","author":"Geng","year":"2016","journal-title":"Elife"},{"key":"B17","doi-asserted-by":"publisher","first-page":"38151","DOI":"10.1074\/jbc.M406373200","article-title":"L-amino acids regulate parathyroid hormone secretion","volume":"279","author":"Conigrave","year":"2004","journal-title":"J Biol Chem"},{"key":"B18","doi-asserted-by":"publisher","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":"B19","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":"B20","doi-asserted-by":"crossref","first-page":"8097","DOI":"10.1073\/pnas.89.17.8097","article-title":"Sequences in the human parathyroid hormone gene that bind the 1,25-dihydroxyvitamin D3 receptor and mediate transcriptional repression in response to 1,25-dihydroxyvitamin D3","volume":"89","author":"Demay","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B21","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1681\/asn.2010020186","article-title":"The regulation of parathyroid hormone secretion and synthesis","volume":"22","author":"Kumar","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"B22","doi-asserted-by":"publisher","first-page":"G874","DOI":"10.1152\/ajpgi.00341.2014","article-title":"Calcium-sensing receptor stimulates Cl(-)- and SCFA-dependent but inhibits cAMP-dependent HCO3(-) secretion in colon","volume":"308","author":"Tang","year":"2015","journal-title":"Am J Physiol Gastrointest Liver Physiol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"C221","DOI":"10.1152\/ajpcell.00139.2014","article-title":"Calcium-sensing receptor 20 years later","volume":"307","author":"Alfadda","year":"2014","journal-title":"Am J Physiol Cell Physiol"},{"key":"B24","doi-asserted-by":"publisher","first-page":"E329","DOI":"10.1152\/ajpendo.00489.2002","article-title":"Calcium-sensing receptor stimulates PTHrP release by pathways dependent on PKC, p38 MAPK, JNK, and ERK1\/2 in H-500 cells","volume":"285","author":"Tfelt-Hansen","year":"2003","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"B25","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.ceca.2011.11.009","article-title":"Biased agonism of the calcium-sensing receptor","volume":"51","author":"Thomsen","year":"2012","journal-title":"Cell Calcium"},{"key":"B26","doi-asserted-by":"publisher","first-page":"4304","DOI":"10.1210\/en.2012-1449","article-title":"Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor","volume":"153","author":"Leach","year":"2012","journal-title":"Endocrinology"},{"key":"B27","doi-asserted-by":"publisher","first-page":"3340","DOI":"10.1016\/j.febslet.2014.07.022","article-title":"Roles of intraloops-2 and -3 and the proximal C-terminus in signalling pathway selection from the human calcium-sensing receptor","volume":"588","author":"Goolam","year":"2014","journal-title":"FEBS Lett"},{"key":"B28","doi-asserted-by":"crossref","first-page":"19537","DOI":"10.1074\/jbc.271.32.19537","article-title":"Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor","volume":"271","author":"Bai","year":"1996","journal-title":"J Biol Chem"},{"key":"B29","doi-asserted-by":"publisher","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":"B30","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1007\/978-1-60327-317-6_19","article-title":"FLIPR assays of intracellular calcium in GPCR drug discovery","volume":"552","author":"Hansen","year":"2009","journal-title":"Methods Mol Biol"},{"key":"B31","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1111\/j.1582-4934.2007.00096.x","article-title":"Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators","volume":"11","author":"Hu","year":"2007","journal-title":"J Cell Mol Med"},{"key":"B32","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/S0898-6568(03)00128-1","article-title":"Dimerization of G-protein-coupled receptors: roles in signal transduction","volume":"16","author":"Bai","year":"2004","journal-title":"Cell Signal"},{"key":"B33","doi-asserted-by":"publisher","first-page":"1461","DOI":"10.1359\/jbmr.2002.17.8.1461","article-title":"Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain","volume":"17","author":"Hu","year":"2002","journal-title":"J Bone Miner Res"},{"key":"B34","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1124\/jpet.112.197210","article-title":"Strontium is a biased agonist of the calcium-sensing receptor in rat medullary thyroid carcinoma 6-23 cells","volume":"343","author":"Thomsen","year":"2012","journal-title":"J Pharmacol Exp Ther"},{"key":"B35","doi-asserted-by":"publisher","first-page":"e79113","DOI":"10.1371\/journal.pone.0079113","article-title":"Excessive signal transduction of gain-of-function variants of the calcium-sensing receptor (CaSR) are associated with increased ER to cytosol calcium gradient","volume":"8","author":"Ranieri","year":"2013","journal-title":"PLoS One"},{"key":"B36","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1210\/en.2011-1426","article-title":"Positive and negative allosteric modulators promote biased signaling at the calcium-sensing receptor","volume":"153","author":"Davey","year":"2012","journal-title":"Endocrinology"},{"key":"B37","doi-asserted-by":"publisher","first-page":"1324","DOI":"10.274\/138945012802429642","article-title":"Novel strategies in drug discovery of the calcium-sensing receptor based on biased signaling","volume":"13","author":"Thomsen","year":"2012","journal-title":"Curr Drug Targets"}],"container-title":["Frontiers in Endocrinology"],"original-title":[],"link":[{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fendo.2018.00200\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,4,25]],"date-time":"2018-04-25T08:57:08Z","timestamp":1524646628000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/article\/10.3389\/fendo.2018.00200\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,25]]},"references-count":37,"alternative-id":["10.3389\/fendo.2018.00200"],"URL":"https:\/\/doi.org\/10.3389\/fendo.2018.00200","relation":{},"ISSN":["1664-2392"],"issn-type":[{"value":"1664-2392","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,25]]},"article-number":"200"}}