{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T12:40:23Z","timestamp":1787920823925,"version":"build-2784847793"},"reference-count":48,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,9,1]]},"DOI":"10.1210\/jc.2012-1743","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T23:54:37Z","timestamp":1340841277000},"page":"E1774-E1781","source":"Crossref","is-referenced-by-count":130,"title":["Identification of Somatic Mutations in Parathyroid Tumors Using Whole-Exome Sequencing"],"prefix":"10.1210","volume":"97","author":[{"given":"M. Kyle","family":"Cromer","sequence":"first","affiliation":[{"name":"Departments of Genetics (M.K.C., M.C., C.N.-W., R.P.L.), New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee F.","family":"Starker","sequence":"additional","affiliation":[{"name":"Surgery (L.F.S., R.U., T.C.), New Haven, Connecticut 06520"},{"name":"Department of Surgical Sciences (L.F.S.), Uppsala University, SE-751 85 Uppsala, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murim","family":"Choi","sequence":"additional","affiliation":[{"name":"Departments of Genetics (M.K.C., M.C., C.N.-W., R.P.L.), New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Udelsman","sequence":"additional","affiliation":[{"name":"Surgery (L.F.S., R.U., T.C.), New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[{"name":"Departments of Genetics (M.K.C., M.C., C.N.-W., R.P.L.), New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[{"name":"Departments of Genetics (M.K.C., M.C., C.N.-W., R.P.L.), New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Carling","sequence":"additional","affiliation":[{"name":"Surgery (L.F.S., R.U., T.C.), New Haven, Connecticut 06520"},{"name":"Yale Endocrine Neoplasia Laboratory (L.F.S., T.C.), New Haven, Connecticut 06520"},{"name":"Cancer Genetics and Genomics Program (T.C.), Yale Cancer Center, Yale University School of Medicine, New Haven, Connecticut 06520"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113214345900_B1","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/S0039-6060(97)90357-3","article-title":"Population-based screening for primary hyperparathyroidism with serum calcium and parathyroid hormone values in menopausal women.","volume":"121","author":"Lundgren","year":"1997","journal-title":"Surgery"},{"key":"key\n\t\t\t\t2019041113214345900_B2","first-page":"523","article-title":"Parathyroid \u201cdouble adenomas\u201d: fact or fiction?","volume":"90","author":"Verdonk","year":"1981","journal-title":"Surgery"},{"key":"key\n\t\t\t\t2019041113214345900_B3","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1002\/cncr.22599","article-title":"Trends in the incidence and treatment of parathyroid cancer in the United States.","volume":"109","author":"Lee","year":"2007","journal-title":"Cancer"},{"key":"key\n\t\t\t\t2019041113214345900_B4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S1043-2760(00)00345-3","article-title":"Molecular pathology of parathyroid tumors.","volume":"12","author":"Carling","year":"2001","journal-title":"Trends Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113214345900_B5","first-page":"1766","article-title":"Novel chromosomal abnormalities identified by comparative genomic hybridization in parathyroid adenomas.","volume":"83","author":"Palanisamy","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113214345900_B6","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1056\/NEJMoa031237","article-title":"Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma.","volume":"349","author":"Shattuck","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113214345900_B7","first-page":"N30","article-title":"Molecular pathogenesis of primary hyperparathyroidism.","volume":"17","author":"Arnold","year":"2002","journal-title":"J Bone Miner Res"},{"key":"key\n\t\t\t\t2019041113214345900_B8","first-page":"1320","article-title":"p53 abnormalities in human parathyroid carcinoma.","volume":"78","author":"Cryns","year":"1994","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113214345900_B9","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1056\/NEJM199403173301105","article-title":"Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma.","volume":"330","author":"Cryns","year":"1994","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113214345900_B10","doi-asserted-by":"crossref","first-page":"4119","DOI":"10.1210\/jc.2007-2633","article-title":"Selective loss of MEG3 expression and intergenic differentially methylated region hypermethylation in the MEG3\/DLK1 locus in human clinically nonfunctioning pituitary adenomas.","volume":"93","author":"Gejman","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113214345900_B11","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/S0039-6060(03)00422-7","article-title":"Intragenic allelic loss and promoter hypermethylation of the RIZ1 tumor suppressor gene in parathyroid tumors and pheochromocytomas.","volume":"134","author":"Carling","year":"2003","journal-title":"Surgery"},{"key":"key\n\t\t\t\t2019041113214345900_B12","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1002\/gcc.20895","article-title":"The DNA methylome of benign and malignant parathyroid tumors.","volume":"50","author":"Starker","year":"2011","journal-title":"Genes Chromosomes Cancer"},{"key":"key\n\t\t\t\t2019041113214345900_B13","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1073\/pnas.0408836102","article-title":"Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors.","volume":"102","author":"Milne","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113214345900_B14","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1126\/science.1198785","article-title":"K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.","volume":"331","author":"Choi","year":"2011","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113214345900_B15","doi-asserted-by":"crossref","first-page":"19096","DOI":"10.1073\/pnas.0910672106","article-title":"Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.","volume":"106","author":"Choi","year":"2009","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113214345900_B16","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1101\/gr.078212.108","article-title":"Mapping short DNA sequencing reads and calling variants using mapping quality scores.","volume":"18","author":"Li","year":"2008","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t2019041113214345900_B17","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform.","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t2019041113214345900_B18","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools.","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t2019041113214345900_B19","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1038\/ng.518","article-title":"Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin.","volume":"42","author":"Morin","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B20","doi-asserted-by":"crossref","first-page":"e328","DOI":"10.1371\/journal.pmed.0040328","article-title":"An LRP5 receptor with internal deletion in hyperparathyroid tumors with implications for deregulated WNT\/\u03b2-catenin signaling.","volume":"4","author":"Bj\u00f6rklund","year":"2007","journal-title":"PLoS Med"},{"key":"key\n\t\t\t\t2019041113214345900_B21","article-title":"Evidence of a stabilizing mutation \u03b2-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas","author":"Starker","year":"2012","journal-title":"Endocrine"},{"key":"key\n\t\t\t\t2019041113214345900_B22","doi-asserted-by":"crossref","first-page":"1678","DOI":"10.1038\/sj.leu.2403882","article-title":"Mutation in RAP1 is a rare event in myelodysplastic syndromes.","volume":"19","author":"Gyan","year":"2005","journal-title":"Leukemia"},{"key":"key\n\t\t\t\t2019041113214345900_B23","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20605","article-title":"Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.","volume":"29","author":"Lemos","year":"2008","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113214345900_B24","first-page":"2960","article-title":"Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.","volume":"83","author":"Carling","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113214345900_B25","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1038\/ng0897-375","article-title":"Somatic mutation of the MEN1 gene in parathyroid tumours.","volume":"16","author":"Heppner","year":"1997","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B26","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1038\/ng.620","article-title":"Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.","volume":"42","author":"Nikoloski","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B27","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1038\/ng.621","article-title":"Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.","volume":"42","author":"Ernst","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B28","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/301729","article-title":"Characterization of mutations in patients with multiple endocrine neoplasia type 1.","volume":"62","author":"Bassett","year":"1998","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B29","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1073\/pnas.95.4.1630","article-title":"Menin, the product of the MEN1 gene, is a nuclear protein.","volume":"95","author":"Guru","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113214345900_B30","doi-asserted-by":"crossref","first-page":"2485","DOI":"10.1038\/sj.onc.1202164","article-title":"Characterization of the mouse Men1 gene and its expression during development.","volume":"17","author":"Stewart","year":"1998","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t2019041113214345900_B31","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/S0378-1119(00)00562-X","article-title":"Characterization of a MEN1 ortholog from Drosophila melanogaster.","volume":"263","author":"Guru","year":"2001","journal-title":"Gene"},{"key":"key\n\t\t\t\t2019041113214345900_B32","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1126\/science.276.5311.404","article-title":"Positional cloning of the gene for multiple endocrine neoplasia-type 1.","volume":"276","author":"Chandrasekharappa","year":"1997","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113214345900_B33","first-page":"6135","article-title":"Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex.","volume":"63","author":"Kim","year":"2003","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t2019041113214345900_B34","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1016\/S1097-2765(04)00081-4","article-title":"Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus.","volume":"13","author":"Hughes","year":"2004","journal-title":"Mol Cell"},{"key":"key\n\t\t\t\t2019041113214345900_B35","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0092-8674(00)80967-8","article-title":"Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.","volume":"96","author":"Agarwal","year":"1999","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041113214345900_B36","doi-asserted-by":"crossref","first-page":"3837","DOI":"10.1073\/pnas.061358098","article-title":"Inactivation of menin, a Smad3-interactng protein, blocks transforming growth factor type \u03b2 signaling.","volume":"98","author":"Kaji","year":"2001","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113214345900_B37","doi-asserted-by":"crossref","first-page":"4917","DOI":"10.1038\/sj.onc.1204529","article-title":"The tumor suppressor protein menin interacts with NF-\u03baB proteins and inhibits NF-\u03baB-mediated transactivation.","volume":"20","author":"Heppner","year":"2001","journal-title":"Oncogene"},{"key":"key\n\t\t\t\t2019041113214345900_B38","doi-asserted-by":"crossref","first-page":"24477","DOI":"10.1074\/jbc.M401835200","article-title":"Reduction of menin expression enhances cell proliferation and is tumorigenic in intestinal epithelial cells.","volume":"279","author":"Ratineau","year":"2004","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113214345900_B39","doi-asserted-by":"crossref","first-page":"10685","DOI":"10.1074\/jbc.M308073200","article-title":"Menin induces apoptosis in murine embryonic fibroblasts.","volume":"279","author":"Schnepp","year":"2004","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113214345900_B40","first-page":"4204","article-title":"Menin associates with FANCD2, a protein involved in repair of DNA damage.","volume":"63","author":"Jin","year":"2003","journal-title":"Cancer Res"},{"key":"key\n\t\t\t\t2019041113214345900_B41","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1677\/ERC-09-0082","article-title":"Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia.","volume":"16","author":"Harding","year":"2009","journal-title":"Endocr Relat Cancer"},{"key":"key\n\t\t\t\t2019041113214345900_B42","doi-asserted-by":"crossref","first-page":"6075","DOI":"10.1128\/MCB.23.17.6075-6085.2003","article-title":"Of mice and MEN1: insulinomas in a conditional mouse knockout.","volume":"23","author":"Crabtree","year":"2003","journal-title":"Mol Cell Biol"},{"key":"key\n\t\t\t\t2019041113214345900_B43","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1038\/ng0210-100","article-title":"Deregulation of H3K27 methylation in cancer.","volume":"42","author":"Martinez-Garcia","year":"2010","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B44","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/ng.349","article-title":"Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.","volume":"41","author":"van Haaften","year":"2009","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113214345900_B45","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1038\/nature01075","article-title":"The polycomb group protein EZH2 is involved in progression of prostate cancer.","volume":"419","author":"Varambally","year":"2002","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019041113214345900_B46","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1182\/blood-2010-11-321208","article-title":"Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation.","volume":"117","author":"Yap","year":"2011","journal-title":"Blood"},{"key":"key\n\t\t\t\t2019041113214345900_B47","doi-asserted-by":"crossref","first-page":"805","DOI":"10.2174\/156652408786733702","article-title":"Menin, histone 3 methyltransferases, and regulation of cell proliferation: current knowledge and perspective.","volume":"8","author":"Wu","year":"2008","journal-title":"Curr Mol Med"},{"key":"key\n\t\t\t\t2019041113214345900_B48","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.1172\/JCI114114","article-title":"Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma.","volume":"83","author":"Arnold","year":"1989","journal-title":"J Clin Invest"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/97\/9\/E1774\/9044840\/jcem1774.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,30]],"date-time":"2019-06-30T06:22:57Z","timestamp":1561875777000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/97\/9\/E1774\/2536626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,1]]},"references-count":48,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2012-1743","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717648064.793457944","asserted-by":"object"}]},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,1]]}}}