{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:29:39Z","timestamp":1791286179242,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":407,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Suomen Akatemia","doi-asserted-by":"publisher","award":["260370, 265124"],"award-info":[{"award-number":["260370, 265124"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006383","name":"Cancer Society of Finland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006383","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004756","name":"Emil Aaltonen Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004756","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100007083","name":"Orion-Farmos Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007083","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Sigrid Juselius Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2014,9]]},"DOI":"10.1002\/humu.22612","type":"journal-article","created":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T11:32:56Z","timestamp":1404214376000},"page":"1136-1141","source":"Crossref","is-referenced-by-count":75,"title":["Mutations in Exon 1 Highlight the Role of<i>MED12<\/i>in Uterine Leiomyomas"],"prefix":"10.1155","volume":"35","author":[{"given":"Kati","family":"K\u00e4mpj\u00e4rvi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics; Genome-Scale Biology Research Program; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min Ju","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine; Institute of Biotechnology; University of Texas Health Science Center at San Antonio; San Antonio Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miika","family":"Mehine","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Genome-Scale Biology Research Program; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine; Institute of Biotechnology; University of Texas Health Science Center at San Antonio; San Antonio Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison D.","family":"Clark","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine; Institute of Biotechnology; University of Texas Health Science Center at San Antonio; San Antonio Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"B\u00fctzow","sequence":"additional","affiliation":[{"name":"Department of Pathology; The Laboratory of Helsinki University Central Hospital (HUSLAB); Helsinki University Central Hospital and Haartman Institute; University of Helsinki; Helsinki Finland"},{"name":"Department of Obstetrics and Gynecology; University of Helsinki and Helsinki University Central Hospital; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"B\u00f6hling","sequence":"additional","affiliation":[{"name":"Department of Pathology; The Laboratory of Helsinki University Central Hospital (HUSLAB); Helsinki University Central Hospital and Haartman Institute; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"B\u00f6hm","sequence":"additional","affiliation":[{"name":"Department of Pathology; Jyv\u00e4skyl\u00e4 Central Hospital; Jyv\u00e4skyl\u00e4 Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jukka-Pekka","family":"Mecklin","sequence":"additional","affiliation":[{"name":"Department of Surgery; Jyv\u00e4skyl\u00e4 Central Hospital and University of Eastern Finland; Jyv\u00e4skyl\u00e4 Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heikki","family":"J\u00e4rvinen","sequence":"additional","affiliation":[{"name":"Department of Surgery; Helsinki University Central Hospital; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian P.M.","family":"Tomlinson","sequence":"additional","affiliation":[{"name":"Wellcome Trust Centre for Human Genetics and NIHR Comprehensive Biomedical Research Centre; Nuffield Department of Clinical Medicine; University of Oxford; Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zephne M.","family":"van der Spuy","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology; Faculty of Health Sciences; University of Cape Town\/Groote Schuur Hospital; Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jari","family":"Sj\u00f6berg","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology; University of Helsinki and Helsinki University Central Hospital; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas G.","family":"Boyer","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine; Institute of Biotechnology; University of Texas Health Science Center at San Antonio; San Antonio Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Vahteristo","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics; Genome-Scale Biology Research Program; University of Helsinki; Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,21]]},"reference":[{"key":"10.1002\/humu.22612-BIB0001|humu22612-cit-0001","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1056\/NEJM199805213382101","article-title":"Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease","volume":"338","author":"Aaltonen","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22612-BIB0002|humu22612-cit-0002","doi-asserted-by":"crossref","first-page":"44202","DOI":"10.1074\/jbc.M207195200","article-title":"A complex of the Srb8, -9, -10, and -11 transcriptional regulatory proteins from yeast","volume":"277","author":"Borggrefe","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22612-BIB0003|humu22612-cit-0003","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/nature11252","article-title":"Comprehensive molecular characterization of human colon and rectal cancer","volume":"487","author":"Cancer Genome Atlas Network","year":"2012","journal-title":"Nature"},{"key":"10.1002\/humu.22612-BIB0004|humu22612-cit-0004","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1067\/mob.2003.99","article-title":"High cumulative incidence of uterine leiomyoma in black and white women: ultrasound evidence","volume":"188","author":"Day Baird","year":"2003","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/humu.22612-BIB0005|humu22612-cit-0005","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1016\/j.humpath.2013.01.006","article-title":"Mediator complex subunit 12 exon 2 mutation analysis in different subtypes of smooth muscle tumors confirms genetic heterogeneity","volume":"44","author":"Graaff","year":"2013","journal-title":"Hum Pathol"},{"key":"10.1002\/humu.22612-BIB0006|humu22612-cit-0006","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.ajog.2006.02.020","article-title":"Health care resource use for uterine fibroid tumors in the United States","volume":"195","author":"Flynn","year":"2006","journal-title":"Am J Obstet Gynecol"},{"key":"10.1002\/humu.22612-BIB0007|humu22612-cit-0007","doi-asserted-by":"crossref","first-page":"D652","DOI":"10.1093\/nar\/gkp995","article-title":"COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer","volume":"38","author":"Forbes","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22612-BIB0008|humu22612-cit-0008","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1097\/AOG.0b013e3181b9d222","article-title":"Nationwide use of laparoscopic hysterectomy compared with abdominal and vaginal approaches","volume":"114","author":"Jacoby","year":"2009","journal-title":"Obstet Gynecol"},{"key":"10.1002\/humu.22612-BIB0009|humu22612-cit-0009","doi-asserted-by":"crossref","first-page":"E1044","DOI":"10.1002\/ijc.27610","article-title":"Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors","volume":"2012","author":"Je","year":"2012","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.22612-BIB0010|humu22612-cit-0010","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1038\/bjc.2012.428","article-title":"Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer","volume":"107","author":"K\u00e4mpj\u00e4rvi","year":"2012","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.22612-BIB0011|humu22612-cit-0011","doi-asserted-by":"crossref","first-page":"14066","DOI":"10.1074\/jbc.M602696200","article-title":"Mediator is a transducer of Wnt\/beta-catenin signaling","volume":"281","author":"Kim","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22612-BIB0012|humu22612-cit-0012","first-page":"4554","article-title":"Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families","volume":"62","author":"Kiuru","year":"2002","journal-title":"Cancer Res"},{"key":"10.1002\/humu.22612-BIB0013|humu22612-cit-0013","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1126\/science.1208930","article-title":"MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas","volume":"334","author":"M\u00e4kinen","year":"2011a","journal-title":"Science"},{"key":"10.1002\/humu.22612-BIB0014|humu22612-cit-0014","doi-asserted-by":"crossref","first-page":"966","DOI":"10.18632\/oncotarget.370","article-title":"MED12 exon 2 mutations are common in uterine leiomyomas from South African patients","volume":"2","author":"M\u00e4kinen","year":"2011b","journal-title":"Oncotarget"},{"key":"10.1002\/humu.22612-BIB0015|humu22612-cit-0015","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1038\/ejhg.2013.33","article-title":"MED12 exon 2 mutations in histopathological uterine leiomyoma variants","volume":"21","author":"M\u00e4kinen","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22612-BIB0016|humu22612-cit-0016","doi-asserted-by":"crossref","first-page":"1528","DOI":"10.1002\/ijc.27424","article-title":"MED12 mutations in uterine fibroids-their relationship to cytogenetic subgroups","volume":"131","author":"Markowski","year":"2012a","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.22612-BIB0017|humu22612-cit-0017","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/gcc.22029","article-title":"MED12 mutations occurring in benign and malignant mammalian smooth muscle tumors","volume":"52","author":"Markowski","year":"2012b","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.22612-BIB0018|humu22612-cit-0018","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1111\/his.12039","article-title":"Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours","volume":"62","author":"Matsubara","year":"2012","journal-title":"Histopathology"},{"key":"10.1002\/humu.22612-BIB0019|humu22612-cit-0019","doi-asserted-by":"crossref","first-page":"e33251","DOI":"10.1371\/journal.pone.0033251","article-title":"Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas","volume":"7","author":"McGuire","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.22612-BIB0020|humu22612-cit-0020","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1056\/NEJMoa1302736","article-title":"Characterization of uterine leiomyomas by whole-genome sequencing","volume":"369","author":"Mehine","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.22612-BIB0021|humu22612-cit-0021","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.fertnstert.2007.01.093","article-title":"Etiology, symptomatology, and diagnosis of uterine myomas","volume":"87","author":"Parker","year":"2007","journal-title":"Fertil Steril"},{"key":"10.1002\/humu.22612-BIB0022|humu22612-cit-0022","doi-asserted-by":"crossref","first-page":"e40015","DOI":"10.1371\/journal.pone.0040015","article-title":"MED12 alterations in both human benign and malignant uterine soft tissue tumors","volume":"7","author":"Perot","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.22612-BIB0023|humu22612-cit-0023","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/modpathol.2012.203","article-title":"MED12 mutations in leiomyosarcoma and extrauterine leiomyoma","volume":"26","author":"Ravegnini","year":"2012","journal-title":"Mod Pathol"},{"key":"10.1002\/humu.22612-BIB0024|humu22612-cit-0024","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1097\/PAT.0b013e328360bf97","article-title":"Mutation status of the mediator complex subunit 12 (MED12) in uterine leiomyomas and concurrent\/metachronous multifocal peritoneal smooth muscle nodules (leiomyomatosis peritonealis disseminata)","volume":"45","author":"Rieker","year":"2013","journal-title":"Pathology"},{"key":"10.1002\/humu.22612-BIB0025|humu22612-cit-0025","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1200\/JCO.2000.18.11.2193","article-title":"Population-based molecular detection of hereditary nonpolyposis colorectal cancer","volume":"18","author":"Salovaara","year":"2000","journal-title":"J Clin Oncol"},{"key":"10.1002\/humu.22612-BIB0026|humu22612-cit-0026","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1038\/ng0895-436","article-title":"Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours","volume":"10","author":"Schoenmakers","year":"1995","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22612-BIB0027|humu22612-cit-0027","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.humpath.2013.08.005","article-title":"MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors","volume":"45","author":"Schwetye","year":"2014","journal-title":"Hum Pathol"},{"key":"10.1002\/humu.22612-BIB0028|humu22612-cit-0028","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1093\/humupd\/dmt058","article-title":"Proceedings from the third national institutes of health international congress on advances in uterine leiomyoma research: comprehensive review, conference summary and future recommendations","volume":"20","author":"Segars","year":"2014","journal-title":"Hum Reprod Update"},{"key":"10.1002\/humu.22612-BIB0029|humu22612-cit-0029","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.tibs.2010.02.004","article-title":"The human mediator complex: a versatile, genome-wide regulator of transcription","volume":"35","author":"Taatjes","year":"2010","journal-title":"Trends Biochem Sci"},{"key":"10.1002\/humu.22612-BIB0030|humu22612-cit-0030","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/ng849","article-title":"Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer","volume":"30","author":"Tomlinson","year":"2002","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22612-BIB0031|humu22612-cit-0031","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1016\/j.celrep.2014.03.047","article-title":"Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity","volume":"7","author":"Turunen","year":"2014","journal-title":"Cell Rep"},{"key":"10.1002\/humu.22612-BIB0032|humu22612-cit-0032","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ijc.21798","article-title":"Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients","volume":"119","author":"Ylisaukko-oja","year":"2006","journal-title":"Int J Cancer"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22612","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22612","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:42Z","timestamp":1672332942000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22612"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,21]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22612","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2014,7,21]]}}}