{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T20:35:00Z","timestamp":1782506100207,"version":"3.54.5"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2022,8,17]],"date-time":"2022-08-17T00:00:00Z","timestamp":1660694400000},"content-version":"vor","delay-in-days":624,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["JRF\/SRF fellowship (JRF-2013HRD-77)"],"award-info":[{"award-number":["JRF\/SRF fellowship (JRF-2013HRD-77)"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016724","name":"Postgraduate Institute of Medical Education and Research, Chandigarh","doi-asserted-by":"publisher","award":["Intramural Research Grant - (71\/8-Edu-15\/969)"],"award-info":[{"award-number":["Intramural Research Grant - (71\/8-Edu-15\/969)"]}],"id":[{"id":"10.13039\/100016724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["JRF\/SRF fellowship (JRF\u20102013HRD\u201077)"],"award-info":[{"award-number":["JRF\/SRF fellowship (JRF\u20102013HRD\u201077)"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100016724","name":"Postgraduate Institute of Medical Education and Research, Chandigarh","doi-asserted-by":"publisher","award":["Intramural Research Grant \u2010 (71\/8\u2010Edu\u201015\/969)"],"award-info":[{"award-number":["Intramural Research Grant \u2010 (71\/8\u2010Edu\u201015\/969)"]}],"id":[{"id":"10.13039\/100016724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Primary hyperparathyroidism (PHPT) is third most common endocrine disorder characterized by hypercalcemia with elevated or nonsuppressed parathyroid hormone levels by parathyroid tumors. Familial PHPT, as part of multiple endocrine type-1, occurs due to the germline mutation in the MEN1 gene. The involvement and the role of germline MEN1 variations in sporadic PHPT of Indian PHPT patients are unknown. Precise classifications of different types of MEN1 variations are fundamental for determining clinical relevance and diagnostic role. This prospective cohort study was performed on 82 patients with PHPT (with no clinical or history of MEN1) who underwent screening for MEN1 variations through Sanger sequencing. Multilevel computational analysis was performed to determine the structure\u2013function relationship of synonymous, nonsynonymous, and variants of uncertain significance (VUS). Of the 82 PHPT patients, 42 (51%) had 26 germline MEN1 variants, including eight nonsynonymous, seven synonymous, nine VUS, one splice site, and one regulatory variation. Five most common germline variations (c.1838A&amp;gt;G, c.1817C&amp;gt;T, c.1525C&amp;gt;A, c.-35A&amp;gt;T, and c.250T&amp;gt;C) were observed in this study. c.-35A&amp;gt;T (5\u2032 untranslated region [UTR]) was associated with recurrence of PHPT (odds ratio [OR]\u00a0=\u00a05.4; p\u00a0=\u00a00.04) and subsequent detection of other endocrine tumors (OR\u00a0=\u00a013.6, p\u00a0=\u00a00.035). c.1525C&amp;gt;A was associated with multi glandular parathyroid tumor (OR\u00a0=\u00a013.6, p\u00a0=\u00a00.035). Align\u2013Grantham variation and Grantham deviation (Align-GVGD), functional analysis through hidden Markov MODEL (FATHMM), and MutationTaster analysis reported the disease-specific potential of VUS and synonymous variations. Significant linkage disequilibrium was observed in c.1785G&amp;gt;A and c.1817C&amp;gt;T (r2\u00a0=\u00a00.3859, p\u00a0=\u00a00.0001), c.1475C&amp;gt;G and c.1525C&amp;gt;A (r2\u00a0=\u00a00.385, p\u00a0=\u00a00.0004), and c.1569T&amp;gt;C and c.1838A&amp;gt;G (r2\u00a0=\u00a00.488, p\u00a0=\u00a00.0001). The detection of MEN1 variations, especially those with disease-specific potential, can prompt early screening for other MEN1-related tumors and disease recurrence. \u00a9 2022 American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4653","type":"journal-article","created":{"date-parts":[[2022,7,20]],"date-time":"2022-07-20T04:44:10Z","timestamp":1658292250000},"page":"1860-1875","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Multilevel Annotation of Germline MEN1 Variants of Synonymous, Nonsynonymous, and Uncertain Significance in Indian Patients With Sporadic Primary Hyperparathyroidism"],"prefix":"10.1093","volume":"37","author":[{"given":"Gurjeet","family":"Kaur","sequence":"first","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0410-8778","authenticated-orcid":false,"given":"Sanjay Kumar","family":"Bhadada","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mithun","family":"Santra","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rimesh","family":"Pal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phulen","family":"Sarma","sequence":"additional","affiliation":[{"name":"Department of Pharmacology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naresh","family":"Sachdeva","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Dhiman","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Divya","family":"Dahiya","sequence":"additional","affiliation":[{"name":"Department of General Surgery Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma Nahar","family":"Saikia","sequence":"additional","affiliation":[{"name":"Department of Histopathology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuradha","family":"Chakraborty","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine and Biotechnology Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwani","family":"Sood","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arunanshu","family":"Behera","sequence":"additional","affiliation":[{"name":"Department of General Surgery Postgraduate Institute of Medical Education and Research (PGIMER) Chandigarh India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2200-1800","authenticated-orcid":false,"given":"Sudhaker D.","family":"Rao","sequence":"additional","affiliation":[{"name":"Bone and Mineral Research Laboratory Henry Ford Hospital Detroit MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,7,20]]},"reference":[{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0001","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"},{"issue":"8","key":"2024012714050701800_jbmr4653-bib-0002","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s00268-002-6621-0","article-title":"Primary hyperparathyroidism revisited in menopausal women with serum calcium in the upper normal range at population-based screening 8\u2009years ago","volume":"26","author":"Lundgren","year":"2002","journal-title":"World J Surg"},{"issue":"9","key":"2024012714050701800_jbmr4653-bib-0003","doi-asserted-by":"crossref","first-page":"2990","DOI":"10.1210\/jc.2012-1230","article-title":"Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1)","volume":"97","author":"Thakker","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0004","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1055\/s-2005-870139","article-title":"Menin molecular interactions: insights into normal functions and tumorigenesis","volume":"37","author":"Agarwal","year":"2005","journal-title":"Horm Metab Res"},{"issue":"5311","key":"2024012714050701800_jbmr4653-bib-0005","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"},{"issue":"8","key":"2024012714050701800_jbmr4653-bib-0006","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.tibs.2013.05.005","article-title":"Menin: a scaffold protein that controls gene expression and cell signaling","volume":"38","author":"Matkar","year":"2013","journal-title":"Trends Biochem Sci"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0007","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":"2024012714050701800_jbmr4653-bib-0008","doi-asserted-by":"crossref","first-page":"F1000","DOI":"10.12688\/f1000research.7230.1","article-title":"Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old","volume":"6","author":"Falchetti","year":"2017","journal-title":"F1000Res"},{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0009","doi-asserted-by":"crossref","first-page":"R56","DOI":"10.1530\/EC-17-0283","article-title":"Diagnosis, management, histology and genetics of sporadic primary hyperparathyroidism: old knowledge with new tricks","volume":"7","author":"Mizamtsidi","year":"2018","journal-title":"Endocr Connect"},{"issue":"12","key":"2024012714050701800_jbmr4653-bib-0010","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.4158\/EP-2018-0268","article-title":"Primary hyperparathyroidism in the young: comparison with adult primary hyperparathyroidism","volume":"24","author":"Mukherjee","year":"2018","journal-title":"Endocr Pract"},{"key":"2024012714050701800_jbmr4653-bib-0011","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.jss.2019.08.007","article-title":"Persistent\/recurrent primary hyperparathyroidism: does the number of abnormal glands play a role?","volume":"246","author":"Mazotas","year":"2020","journal-title":"J Surg Res"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0012","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/ng1695","article-title":"Common deletions and SNPs are in linkage disequilibrium in the human genome","volume":"38","author":"Hinds","year":"2006","journal-title":"Nat Genet"},{"issue":"5","key":"2024012714050701800_jbmr4653-bib-0013","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"},{"issue":"11","key":"2024012714050701800_jbmr4653-bib-0014","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: the human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"issue":"16","key":"2024012714050701800_jbmr4653-bib-0015","doi-asserted-by":"crossref","first-page":"2745","DOI":"10.1093\/bioinformatics\/btv195","article-title":"PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels","volume":"31","author":"Choi","year":"2015","journal-title":"Bioinformatics"},{"key":"2024012714050701800_jbmr4653-bib-0016","first-page":"7.20.1","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"76","author":"Adzhubei","year":"2013","journal-title":"Curr Protoc Hum Genet"},{"issue":"4","key":"2024012714050701800_jbmr4653-bib-0017","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/humu.21458","article-title":"Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6","volume":"32","author":"Raponi","year":"2011","journal-title":"Hum Mutat"},{"issue":"8","key":"2024012714050701800_jbmr4653-bib-0018","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0019","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s12020-017-1234-4","article-title":"Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database","volume":"58","author":"Giusti","year":"2017","journal-title":"Endocrine"},{"issue":"24","key":"2024012714050701800_jbmr4653-bib-0020","first-page":"6804","article-title":"Allelic loss from chromosome 11 in parathyroid tumors","volume":"52","author":"Friedman","year":"1992","journal-title":"Cancer Res"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0021","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1677\/joe.0.1660001","article-title":"Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region","volume":"166","author":"Karges","year":"2000","journal-title":"J Endocrinol"},{"issue":"3","key":"2024012714050701800_jbmr4653-bib-0022","first-page":"599","article-title":"Genomic localization of novel candidate tumor suppressor gene loci in human parathyroid adenomas","volume":"56","author":"Tahara","year":"1996","journal-title":"Cancer Res"},{"issue":"10","key":"2024012714050701800_jbmr4653-bib-0023","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1001\/jamasurg.2016.2310","article-title":"The American Association of Endocrine Surgeons guidelines for definitive management of primary hyperparathyroidism","volume":"151","author":"Wilhelm","year":"2016","journal-title":"JAMA Surg"},{"key":"2024012714050701800_jbmr4653-bib-0024","first-page":"N37","article-title":"Hyperparathyroidism in hereditary syndromes: special expressions and special managements","volume":"17","author":"Marx","year":"2002","journal-title":"J Bone Miner Res"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0025","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1097\/SLA.0b013e31811f4467","article-title":"Is total parathyroidectomy the treatment of choice for hyperparathyroidism in multiple endocrine neoplasia type 1?","volume":"246","author":"Tonelli","year":"2007","journal-title":"Ann Surg"},{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0026","doi-asserted-by":"crossref","first-page":"79","DOI":"10.4103\/0022-3859.65279","article-title":"Clinical profile of primary hyperparathyroidism from western India: a single center experience","volume":"56","author":"Gopal","year":"2010","journal-title":"J Postgrad Med"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0027","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/joim.12523","article-title":"Genetics of parathyroid tumours","volume":"280","author":"Thakker","year":"2016","journal-title":"J Intern Med"},{"issue":"1-2","key":"2024012714050701800_jbmr4653-bib-0028","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s12672-011-0100-8","article-title":"Frequent germline 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":"19","key":"2024012714050701800_jbmr4653-bib-0029","first-page":"5553","article-title":"Screening of the Men1 gene and discovery of germline and somatic mutations in apparently sporadic parathyroid tumors","volume":"60","author":"Uchino","year":"2000","journal-title":"Cancer Res"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0030","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1097\/01.cco.0000148567.29850.31","article-title":"Multiple endocrine neoplasia syndrome: genetic basis for clinical management","volume":"17","author":"Carling","year":"2005","journal-title":"Curr Opin Oncol"},{"key":"2024012714050701800_jbmr4653-bib-0031","first-page":"503","article-title":"Symptomatic primary hyperparathyroidism: a retrospective analysis of fifty one cases from a single centre","volume":"56","author":"Muthukrishnan","year":"2008","journal-title":"J Assoc Physicians India"},{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0032","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1007\/s00774-017-0833-8","article-title":"Primary hyperparathyroidism: insights from the Indian PHPT registry","volume":"36","author":"Bhadada","year":"2018","journal-title":"J Bone Miner Metab"},{"issue":"10","key":"2024012714050701800_jbmr4653-bib-0033","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.ciresp.2018.06.014","article-title":"Primary hyperparathyroidism associated with MEN 1: experience in 71 cases. Hiperparatiroidismoprimarioasociado a neoplasia endocrinam\u00faltipletipo 1 (MEN 1): Experience in 71 cases","volume":"96","author":"Balsalobre Salmeron","year":"2018","journal-title":"Cir Esp (Engl Ed)"},{"issue":"11","key":"2024012714050701800_jbmr4653-bib-0034","doi-asserted-by":"crossref","first-page":"2382","DOI":"10.1002\/jbmr.125","article-title":"Early-onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1\u2013associated primary hyperparathyroidism","volume":"25","author":"Louren\u00e7o","year":"2010","journal-title":"J Bone Miner Res"},{"issue":"8","key":"2024012714050701800_jbmr4653-bib-0035","doi-asserted-by":"crossref","first-page":"1404","DOI":"10.1359\/jbmr.090304","article-title":"Sporadic and MEN1-related primary hyperparathyroidism: differences in clinical expression and severity","volume":"24","author":"Eller-Vainicher","year":"2009","journal-title":"J Bone Miner Res"},{"issue":"11","key":"2024012714050701800_jbmr4653-bib-0036","doi-asserted-by":"crossref","first-page":"2382","DOI":"10.1002\/jbmr.125","article-title":"Early-onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1\u2013associated primary hyperparathyroidism","volume":"25","author":"","year":"2010","journal-title":"J Bone Miner Res"},{"issue":"10","key":"2024012714050701800_jbmr4653-bib-0037","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1001\/archsurg.134.10.1119","article-title":"Osteoporosis in multiple endocrine neoplasia type 1: severity, clinical significance, relationship to primary hyperparathyroidism, and response to parathyroidectomy","volume":"134","author":"Burgess","year":"1999","journal-title":"Arch Surg"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0038","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/1750-1172-8-50","article-title":"Differences between sporadic and MEN related primary hyperparathyroidism; clinical expression, preoperative workup, operative strategy and follow-up","volume":"8","author":"Twigt","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0039","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/humu.10092","article-title":"Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein","volume":"20","author":"Wautot","year":"2002","journal-title":"Hum Mutat"},{"key":"2024012714050701800_jbmr4653-bib-0040","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/978-1-4419-1664-8_6","volume-title":"SuperMEN1","author":"Kaji","year":"2009"},{"key":"2024012714050701800_jbmr4653-bib-0041","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 U S A"},{"key":"2024012714050701800_jbmr4653-bib-0042","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"issue":"11","key":"2024012714050701800_jbmr4653-bib-0043","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1002\/humu.20896","article-title":"Classification of rare missense substitutions, using risk surfaces, with genetic-and molecular-epidemiology applications","volume":"29","author":"Tavtigian","year":"2008","journal-title":"Hum Mutat"},{"issue":"7748","key":"2024012714050701800_jbmr4653-bib-0044","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/s41586-019-1016-7","article-title":"Histone H3 trimethylation at lysine 36 guides m 6 a RNA modification co-transcriptionally","volume":"567","author":"Huang","year":"2019","journal-title":"Nature"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0045","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1128\/MCB.23.1.206-215.2003","article-title":"Critical role of histone methylation in tumor suppressor gene silencing in colorectal cancer","volume":"23","author":"Kondo","year":"2003","journal-title":"Mol Cell Biol"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0046","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ccr.2008.05.003","article-title":"Menin critically links MLL proteins with LEDGF on cancer-associated target genes","volume":"14","author":"Yokoyama","year":"2008","journal-title":"Cancer Cell"},{"issue":"10","key":"2024012714050701800_jbmr4653-bib-0047","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1038\/nrg3051","article-title":"Understanding the contribution of synonymous mutations to human disease","volume":"12","author":"Sauna","year":"2011","journal-title":"Nat Rev Genet"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0048","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-019-10489-2","article-title":"A pan-cancer analysis of synonymous mutations","volume":"10","author":"Sharma","year":"2019","journal-title":"Nat Commun"},{"issue":"2","key":"2024012714050701800_jbmr4653-bib-0049","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"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0050","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"},{"issue":"3","key":"2024012714050701800_jbmr4653-bib-0051","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/jcp.10070","article-title":"Cdc7 kinase complex: a key regulator in the initiation of DNA replication","volume":"190","author":"Masai","year":"2002","journal-title":"J Cell Physiol"},{"issue":"18","key":"2024012714050701800_jbmr4653-bib-0052","doi-asserted-by":"crossref","first-page":"6791","DOI":"10.1158\/0008-5472.CAN-04-0724","article-title":"Functional interaction between tumor suppressor menin and activator of S-phase kinase","volume":"64","author":"Schnepp","year":"2004","journal-title":"Cancer Res"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0053","doi-asserted-by":"crossref","first-page":"3037","DOI":"10.1128\/MCB.17.6.3037","article-title":"Reconstitution of a MEC1-independent checkpoint in yeast by expression of a novel human fork head cDNA","volume":"17","author":"Pati","year":"1997","journal-title":"Mol Cell Biol"},{"issue":"17","key":"2024012714050701800_jbmr4653-bib-0054","doi-asserted-by":"crossref","first-page":"8397","DOI":"10.1158\/0008-5472.CAN-06-0061","article-title":"Multiple endocrine neoplasia type 1 interacts with forkhead transcription factor CHES1 in DNA damage response","volume":"66","author":"Busygina","year":"2006","journal-title":"Cancer Res"},{"issue":"7","key":"2024012714050701800_jbmr4653-bib-0055","doi-asserted-by":"crossref","first-page":"3837","DOI":"10.1073\/pnas.061358098","article-title":"Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type \u03b2 signaling","volume":"98","author":"Kaji","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"9","key":"2024012714050701800_jbmr4653-bib-0056","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/j.eprac.2021.01.014","article-title":"Parathyroid carcinoma: an experience from the Indian primary hyperparathyroidism registry","volume":"27","author":"Mukherjee","year":"2021","journal-title":"Endocr Pract"},{"issue":"9","key":"2024012714050701800_jbmr4653-bib-0057","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1210\/clinem\/dgaa419","article-title":"Reduced calcium sensing receptor (CaSR) expression is epigenetically deregulated in parathyroid adenomas","volume":"105","author":"Singh","year":"2020","journal-title":"J Clin Endocrinol Metabol"},{"key":"2024012714050701800_jbmr4653-bib-0058","author":"Ott","year":"1999"},{"issue":"1","key":"2024012714050701800_jbmr4653-bib-0059","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jmb.2003.08.001","article-title":"Functional characterization of a promoter region in the human MEN1 tumor suppressor gene","volume":"333","author":"Fromaget","year":"2003","journal-title":"J Mol Biol"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0060","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1530\/EJE-18-0430","article-title":"Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing","volume":"179","author":"Carvalho","year":"2018","journal-title":"Eur J Endocrinol"},{"issue":"8","key":"2024012714050701800_jbmr4653-bib-0061","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1590\/S0004-27302010000800016","article-title":"Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1","volume":"54","author":"Fabbri","year":"2010","journal-title":"Arq Bras Endocrinol Metabol"},{"key":"2024012714050701800_jbmr4653-bib-0062","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00439-006-0218-x","article-title":"A systematic analysis of disease-associated variants in the 3\u2032 regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3\u2032 UTR variants","volume":"120","author":"Chen","year":"2006","journal-title":"Hum Genet"},{"issue":"4","key":"2024012714050701800_jbmr4653-bib-0063","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1002\/humu.22273","article-title":"RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs [published correction appears in Hum Mutat. 2013 Jun;34(6):925]","volume":"34","author":"Sabarinathan","year":"2013","journal-title":"Hum Mutat"},{"issue":"Web Server issue","key":"2024012714050701800_jbmr4653-bib-0064","doi-asserted-by":"crossref","first-page":"W429","DOI":"10.1093\/nar\/gkl333","article-title":"RegRNA: an integrated web server for identifying regulatory RNA motifs and elements","volume":"34","author":"Huang","year":"2006","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"2024012714050701800_jbmr4653-bib-0065","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1093\/bioinformatics\/btn007","article-title":"BEN: a novel domain in chromatin factors and DNA viral proteins","volume":"24","author":"Abhiman","year":"2008","journal-title":"Bioinformatics"},{"issue":"6","key":"2024012714050701800_jbmr4653-bib-0066","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1101\/gad.213314.113","article-title":"The BEN domain is a novel sequence-specific DNA-binding domain conserved in neural transcriptional repressors","volume":"27","author":"Dai","year":"2013","journal-title":"Genes Dev"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jbmr.4653","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jbmr.4653","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/10\/1860\/55454722\/jbmr4653.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/37\/10\/1860\/55454722\/jbmr4653.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T10:45:38Z","timestamp":1710326738000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/37\/10\/1860-1875\/7516538"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":66,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,7,20]]},"published-print":{"date-parts":[[2020,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.4653","relation":{"has-review":[{"id-type":"doi","id":"10.1002\/JBMR.4653\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v3\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1002\/JBMR.4653\/v2\/review2","asserted-by":"object"}]},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,12,1]]},"published":{"date-parts":[[2020,12,1]]},"assertion":[{"value":"2022-02-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}