{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:55:25Z","timestamp":1782212125839,"version":"3.54.5"},"reference-count":16,"publisher":"The Endocrine Society","issue":"6","funder":[{"DOI":"10.13039\/100005709","name":"Endocrine Society","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100005709","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Murray-Heilig Fund in Molecular Medicine","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"DOI":"10.1210\/jc.2018-02517","type":"journal-article","created":{"date-parts":[[2019,1,9]],"date-time":"2019-01-09T13:17:55Z","timestamp":1547039875000},"page":"1948-1952","source":"Crossref","is-referenced-by-count":30,"title":["Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas"],"prefix":"10.1210","volume":"104","author":[{"given":"Aaliyah","family":"Riccardi","sequence":"first","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tori","family":"Aspir","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilia","family":"Shen","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Ling","family":"Kuo","sequence":"additional","affiliation":[{"name":"Biostatistics Center, Connecticut Institute for Clinical and Translational Science, University of Connecticut, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taylor C","family":"Brown","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reju","family":"Korah","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy D","family":"Murtha","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin","family":"Bellizzi","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kourosh","family":"Parham","sequence":"additional","affiliation":[{"name":"Division of Otolaryngology\u2013Head and Neck Surgery, Department of Surgery, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Carling","sequence":"additional","affiliation":[{"name":"Yale Endocrine Neoplasia Laboratory, Department of Surgery, Yale School of Medicine, New Haven, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6437-1693","authenticated-orcid":false,"given":"Jessica","family":"Costa-Guda","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"},{"name":"Center for Regenerative Medicine and Skeletal Development, University of Connecticut School of Dental Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Arnold","sequence":"additional","affiliation":[{"name":"Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut"},{"name":"Division of Endocrinology and Metabolism, University of Connecticut School of Medicine, Farmington, Connecticut"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,1,8]]},"reference":[{"issue":"1-2","key":"2019041614024617500_B1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/j.0954-6820.1976.tb08208.x","article-title":"Prevalence of hypercalcaemia in a health screening in Stockholm","volume":"200","author":"Christensson","year":"1976","journal-title":"Acta Med Scand"},{"issue":"3","key":"2019041614024617500_B2","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1210\/jc.2012-4022","article-title":"Incidence and prevalence of primary hyperparathyroidism in a racially mixed population","volume":"98","author":"Yeh","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"2019041614024617500_B3","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1530\/ERC-18-0304","article-title":"Molecular genetic insights into sporadic primary hyperparathyroidism","volume":"26","author":"Brewer","year":"2019","journal-title":"Endocr Relat Cancer"},{"issue":"1-2","key":"2019041614024617500_B4","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s12672-011-0100-8","article-title":"Frequent germ-line mutations of the MEN1, CASR, and HRPT2\/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism","volume":"3","author":"Starker","year":"2012","journal-title":"Horm Cancer"},{"issue":"5","key":"2019041614024617500_B5","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s12672-013-0147-9","article-title":"Germline and somatic mutations in cyclin-dependent kinase inhibitor genes CDKN1A, CDKN2B, and CDKN2C in sporadic parathyroid adenomas","volume":"4","author":"Costa-Guda","year":"2013","journal-title":"Horm Cancer"},{"issue":"4","key":"2019041614024617500_B6","doi-asserted-by":"crossref","first-page":"E701","DOI":"10.1210\/jc.2010-1338","article-title":"Somatic mutation and germline sequence abnormalities in CDKN1B, encoding p27Kip1, in sporadic parathyroid adenomas","volume":"96","author":"Costa-Guda","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"issue":"5","key":"2019041614024617500_B7","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.ajhg.2016.08.018","article-title":"GCM2-activating mutations in familial isolated hyperparathyroidism","volume":"99","author":"Guan","year":"2016","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2019041614024617500_B8","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1210\/js.2017-00043","article-title":"Ethnicity of patients with germline GCM2-activating variants and primary hyperparathyroidism","volume":"1","author":"Guan","year":"2017","journal-title":"J Endocr Soc"},{"issue":"12","key":"2019041614024617500_B9","doi-asserted-by":"crossref","first-page":"E2794","DOI":"10.1210\/jc.2014-2857","article-title":"Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts","volume":"99","author":"D\u2019Agruma","year":"2014","journal-title":"J Clin Endocrinol Metab"},{"issue":"8","key":"2019041614024617500_B10","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1172\/JCI200113180","article-title":"Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB","volume":"108","author":"Ding","year":"2001","journal-title":"J Clin Invest"},{"issue":"6792","key":"2019041614024617500_B11","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/35018111","article-title":"Genetic ablation of parathyroid glands reveals another source of parathyroid hormone","volume":"406","author":"G\u00fcnther","year":"2000","journal-title":"Nature"},{"issue":"6","key":"2019041614024617500_B12","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1016\/j.surg.2004.06.056","article-title":"GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism","volume":"136","author":"Kebebew","year":"2004","journal-title":"Surgery"},{"issue":"2","key":"2019041614024617500_B13","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1530\/JOE-10-0247","article-title":"Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism","volume":"210","author":"Mannstadt","year":"2011","journal-title":"J Endocrinol"},{"key":"2019041614024617500_B14","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.biopha.2017.05.028","article-title":"Specifying the molecular pattern of sporadic parathyroid tumorigenesis-The Y282D variant of the GCM2 gene","volume":"92","author":"Marchiori","year":"2017","journal-title":"Biomed Pharmacother"},{"issue":"7616","key":"2019041614024617500_B15","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"2019041614024617500_B16","unstructured":"gnomAD . Available at: gnomad.broadinstitute.org\/gene\/ENSG00000124827. Accessed 21 November 2018."}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/104\/6\/1948\/28462644\/jc.2018-02517.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,12]],"date-time":"2023-09-12T20:21:31Z","timestamp":1694550091000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/104\/6\/1948\/5273784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,8]]},"references-count":16,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2019,1,8]]},"published-print":{"date-parts":[[2019,6,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2018-02517","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,6]]},"published":{"date-parts":[[2019,1,8]]}}}