{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T07:34:57Z","timestamp":1778571297690,"version":"3.51.4"},"reference-count":20,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,9,23]],"date-time":"2020-09-23T00:00:00Z","timestamp":1600819200000},"content-version":"vor","delay-in-days":450,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.4158\/accr-2018-0236","type":"journal-article","created":{"date-parts":[[2019,3,13]],"date-time":"2019-03-13T15:45:17Z","timestamp":1552491917000},"page":"e226-e229","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man"],"prefix":"10.1016","volume":"5","author":[{"given":"Parvathy","family":"Madhavan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Hong","family":"Van Do","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen","family":"Bale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachin","family":"Majumdar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.4158\/ACCR-2018-0236_bb0010","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13023-017-0570-z","article-title":"Diseases associated with calcium-sensing receptor","volume":"12","author":"Vahe","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.4158\/ACCR-2018-0236_bb0015","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1111\/j.1365-2265.2010.03870.x","article-title":"A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia","volume":"73","author":"Hannan","year":"2010","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.4158\/ACCR-2018-0236_bb0020","doi-asserted-by":"crossref","first-page":"2768","DOI":"10.1093\/hmg\/dds105","article-title":"Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites","volume":"21","author":"Hannan","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"suppl 2","key":"10.4158\/ACCR-2018-0236_bb0025","doi-asserted-by":"crossref","first-page":"S213","DOI":"10.4103\/2230-8210.104041","article-title":"Calcium-sensing receptor: role in health and disease","volume":"16","author":"Thakker","year":"2012","journal-title":"Indian J Endocrinol Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0030","doi-asserted-by":"crossref","first-page":"14177","DOI":"10.1074\/jbc.M408587200","article-title":"Calcium-sensing receptor gene transcription is up-regulated by the proinflammatory cytokine, interleukin-1beta. Role of the NF-kappaB pathway and kappaB elements","volume":"280","author":"Canaff","year":"2005","journal-title":"J Biol Chem"},{"key":"10.4158\/ACCR-2018-0236_bb0035","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1038\/ncpendmet0388","article-title":"Clinical lessons from the calcium-sensing receptor","volume":"3","author":"Brown","year":"2007","journal-title":"Nat Clin Pract Endocrinol Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0040","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":"10.4158\/ACCR-2018-0236_bb0045","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1080\/10408360590886606","article-title":"The calcium-sensing receptor in normal physiology and pathophysiology: a review","volume":"42","author":"Tfelt-Hansen","year":"2005","journal-title":"Crit Rev Clin Lab Sci"},{"key":"10.4158\/ACCR-2018-0236_bb0050","doi-asserted-by":"crossref","first-page":"2174","DOI":"10.1359\/jbmr.2002.17.12.2174","article-title":"Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene","volume":"17","author":"Yamauchi","year":"2002","journal-title":"J Bone Miner Res"},{"key":"10.4158\/ACCR-2018-0236_bb0055","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum Mutat"},{"key":"10.4158\/ACCR-2018-0236_bb0060","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1210\/jc.2015-3442","article-title":"Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences","volume":"101","author":"Vargas-Poussou","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0065","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1097\/00019606-200112000-00006","article-title":"Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia","volume":"10","author":"Fukumoto","year":"2001","journal-title":"Diagn Mol Pathol"},{"key":"10.4158\/ACCR-2018-0236_bb0070","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/ng1295-389","article-title":"A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism","volume":"11","author":"Ho","year":"1995","journal-title":"Nat Genet"},{"key":"10.4158\/ACCR-2018-0236_bb0075","doi-asserted-by":"crossref","first-page":"4455","DOI":"10.1210\/jc.2002-021427","article-title":"Decreased expression of caveolin-1 and altered regulation of mitogen-activated protein kinase in cultured bovine parathyroid cells and human parathyroid adenomas","volume":"88","author":"Kifor","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0080","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/bs.ircmb.2016.05.004","article-title":"The calcium-sensing receptor in health and disease","volume":"327","author":"D\u00edaz-Soto","year":"2016","journal-title":"Int Rev Cell Mol Biol"},{"key":"10.4158\/ACCR-2018-0236_bb0085","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 Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0090","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 Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0095","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1210\/jcem.87.3.8304","article-title":"Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality?","volume":"87","author":"Burski","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4158\/ACCR-2018-0236_bb0100","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2014-206473","article-title":"Parathyroid adenoma in a patient with familial hypocalciuric hypercalcaemia","volume":"2014","author":"Forde","year":"2014","journal-title":"BMJ Case Rep"},{"key":"10.4158\/ACCR-2018-0236_bb0105","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1530\/EJE-09-0257","article-title":"Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager","volume":"161","author":"Brachet","year":"2009","journal-title":"Eur J Endocrinol"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520300894?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520300894?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:11Z","timestamp":1762497071000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2376060520300894"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["S2376060520300894"],"URL":"https:\/\/doi.org\/10.4158\/accr-2018-0236","relation":{},"ISSN":["2376-0605"],"issn-type":[{"value":"2376-0605","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Novel Mutation in Calcium-Sensing Receptor Presenting as Familial Hypocalciuric Hypercalcemia in a Young Man","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/ACCR-2018-0236","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2019 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}