{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:41:28Z","timestamp":1790613688044,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,6,8]],"date-time":"2018-06-08T00:00:00Z","timestamp":1528416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771053"],"award-info":[{"award-number":["81771053"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2018,10]]},"abstract":"Objectives<\/jats:title>To explore the role of dental follicle cells (DFC<\/jats:styled-content>s) with a novel cleidocranial dysplasia (CCD<\/jats:styled-content>) causative gene RUNX<\/jats:styled-content>2<\/jats:italic> mutation (DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup>) in delayed permanent tooth eruption.<\/jats:p><\/jats:sec>Materials and methods<\/jats:title>A CCD<\/jats:styled-content> patient with typical clinical features was involved in this study. DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup> were cultured and DNA<\/jats:styled-content> was extracted for RUNX<\/jats:styled-content>2<\/jats:italic> mutation screening. Measurements of cell proliferation, alkaline phosphatase (ALP<\/jats:styled-content>) activity, alizarin red staining and osteoblast\u2010specific genes expression were performed to assess osteogenesis of DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup>. Co\u2010culture of DFC<\/jats:styled-content>s and peripheral blood mononuclear cells (PBMC<\/jats:styled-content>s), followed tartrate\u2010resistant acid phosphatase (TRAP<\/jats:styled-content>) staining, real\u2010time PCR<\/jats:styled-content> and western blot were performed to evaluate osteoclast\u2010inductive capacity of DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup>.<\/jats:p><\/jats:sec>Results<\/jats:title>A missense RUNX<\/jats:styled-content>2<\/jats:italic> mutation (c. 557G>C) was found in DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup> from the CCD<\/jats:styled-content> patient. Compared with normal controls, this mutation did not affect the proliferation of DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup>, but down\u2010regulated the expression of osteogenesis\u2010related genes, leading to a decrease in ALP<\/jats:styled-content> activity and mineralisation. Co\u2010culture results showed that DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup> reduced the formation of TRAP<\/jats:styled-content>+<\/jats:sup> multinucleated cells and the expression of osteoclastogenesis\u2010associated genes. Furthermore, the mutation reduced the ratio of RANKL<\/jats:styled-content>\/OPG<\/jats:styled-content> in DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup>.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>DFC<\/jats:styled-content>sRUNX<\/jats:italic><\/jats:sup><\/jats:styled-content>2+\/m<\/jats:italic><\/jats:sup> disturbs bone remodelling activity during tooth eruption through RANK<\/jats:styled-content>\/RANKL<\/jats:styled-content>\/OPG<\/jats:styled-content> signalling pathway and may thus be responsible for impaired permanent tooth eruption in CCD<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12900","type":"journal-article","created":{"date-parts":[[2018,5,22]],"date-time":"2018-05-22T16:56:00Z","timestamp":1527008160000},"page":"1270-1281","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Abnormal bone remodelling activity of dental follicle cells from a cleidocranial dysplasia patient"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2359-6583","authenticated-orcid":false,"given":"Yang","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianli","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"},{"name":"Department of Stomatology Xuanwu Hospital Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangyu","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaozhe","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6717-5196","authenticated-orcid":false,"given":"Shuguo","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Preventive Dentistry Peking University School and Hospital of Stomatology National Engineering Laboratory for Digital and Material Technology of Stomatology Beijing Key Laboratory of Digital Stomatology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,6,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01658"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.22203\/eCM.v028a19"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.110.222547"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2006.00399.x"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.24668"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/ocr.12000"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M302457200"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034515578908"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.11.3349"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22516"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1990.tb00803.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2014.0127"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.04.181"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2005.00245.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-009-9934-x"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00784-009-0260-x"},{"key":"e_1_2_8_18_1","first-page":"177","article-title":"Cleidocranial dysplasia: Clinical and molecular genetics","volume":"36","author":"Mundlos S.","year":"1999","journal-title":"Journal of medical genetics"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2001.4596"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2012.05.005"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-009-9316-6"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2010.159"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2014.06.009"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2184.2010.00670.x"},{"key":"e_1_2_8_26_1","doi-asserted-by":"crossref","first-page":"2862","DOI":"10.1182\/blood.V96.8.2862","article-title":"High incidence of biallelic point mutations in the Runt domain of the AML1\/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21","volume":"96","author":"Preudhomme C.","year":"2000","journal-title":"Blood"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/302622"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9969(97)00072-1"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201512-2380OC"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2010.0027"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/mutage\/gew039"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00271-9"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.2741\/3673"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104319200"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep24225"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2009.01439.x"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2011.00854.x"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910808700509"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.20495"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514566655"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.01.009"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.01.010"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1086\/342717"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008198200"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0181653"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biomaterials.2014.11.007"}],"container-title":["Oral Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fodi.12900","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/odi.12900","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T18:23:36Z","timestamp":1694975016000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/odi.12900"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,8]]},"references-count":45,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["10.1111\/odi.12900"],"URL":"https:\/\/doi.org\/10.1111\/odi.12900","archive":["Portico"],"relation":{},"ISSN":["1354-523X","1601-0825"],"issn-type":[{"value":"1354-523X","type":"print"},{"value":"1601-0825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,8]]},"assertion":[{"value":"2018-04-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}