{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:27:17Z","timestamp":1787005637897,"version":"build-2736575974"},"reference-count":16,"publisher":"National Academy of Sciences","issue":"23","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2014,6,10]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Cleidocranial dysplasia (CCD) is a hereditary human skeletal disease. Mutations in\n                    <jats:italic>Runt-related transcription factor 2<\/jats:italic>\n                    , which functions as a heterodimer with core binding factor \u03b2 (Cbf\u03b2), are found in most individuals with CCD. It has been suspected that Cbf\u03b2 may be responsible for other CCD cases. The pathogenesis of CCD and the role of Cbf\u03b2 in postnatal skeletogenesis remain unclear. There has been no animal model to study this disease. We demonstrate that ablation of Cbf\u03b2 in various skeletal cells results in severe craniofacial and skeletal dysplasia with the phenotype recapitulating clinical features of CCD. The findings from this study of Cbf\u03b2 in the skeleton provide insight into the role of Cbf\u03b2 in postnatal skeletogenesis and pathogenesis of CCD, which may assist in developing new therapies for CCD and osteoporosis.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1310617111","type":"journal-article","created":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T02:20:02Z","timestamp":1400725202000},"page":"8482-8487","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":64,"title":["Cbf\u03b2 deletion in mice recapitulates cleidocranial dysplasia and reveals multiple functions of Cbf\u03b2 required for skeletal development"],"prefix":"10.1073","volume":"111","author":[{"given":"Wei","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqing","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"},{"name":"College of Stomatology, Nanjing Medical University, Nanjing 210029, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guochun","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel","family":"Jules","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengrui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"},{"name":"Institute of Genetics, Life Science College, Zhejiang University, Hangzhou, Zhejiang 310058, People\u2019s Republic of China; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"McConnell","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie","family":"Paulson","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuedong","family":"Zhou","sequence":"additional","affiliation":[{"name":"The State Key Laboratory of Oral Diseases, West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, People\u2019s Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"College of Stomatology, Nanjing Medical University, Nanjing 210029, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Ping","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2014,5,21]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80259-7"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-307"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2004.00043.x"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31479"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2006.03.039"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.22.12359"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80258-5"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1015"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1050"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1049"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02480"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509342873"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10100"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(04)00344-7"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.13.2911"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1310617111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,12]],"date-time":"2022-04-12T21:50:54Z","timestamp":1649800254000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1310617111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,21]]},"references-count":16,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2014,6,10]]}},"alternative-id":["10.1073\/pnas.1310617111"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1310617111","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,21]]},"assertion":[{"value":"2014-05-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}