{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T21:56:36Z","timestamp":1772142996668,"version":"3.50.1"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T00:00:00Z","timestamp":1554076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Key Project for Tianjin Health Industry, China","award":["15KG139"],"award-info":[{"award-number":["15KG139"]}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Archives of Oral Biology"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1016\/j.archoralbio.2019.02.005","type":"journal-article","created":{"date-parts":[[2019,2,15]],"date-time":"2019-02-15T16:05:57Z","timestamp":1550246757000},"page":"49-56","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"special_numbering":"C","title":["Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia"],"prefix":"10.1016","volume":"100","author":[{"given":"Tingting","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoxue","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4125-3819","authenticated-orcid":false,"given":"Feifei","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tengfei","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangyu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.archoralbio.2019.02.005_bib0005","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1111\/jop.12198","article-title":"Novel complex disease allele mutations in cleidocranial dysplasia patients","volume":"43","author":"Anthonappa","year":"2014","journal-title":"Journal of Oral Pathology & Medicine: Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology"},{"issue":"2","key":"10.1016\/j.archoralbio.2019.02.005_bib0010","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/bdra.20231","article-title":"Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations","volume":"76","author":"Cunningham","year":"2006","journal-title":"Birth Defects Research Part A, Clinical and Molecular Teratology"},{"issue":"3","key":"10.1016\/j.archoralbio.2019.02.005_bib0015","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ejmg.2016.12.007","article-title":"Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families","volume":"60","author":"Dincsoy Bir","year":"2017","journal-title":"European Journal of Medical Genetics"},{"issue":"4","key":"10.1016\/j.archoralbio.2019.02.005_bib0020","doi-asserted-by":"crossref","first-page":"3539","DOI":"10.4238\/2011.December.14.5","article-title":"A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia","volume":"10","author":"Fang","year":"2011","journal-title":"Genetics and Molecular Research"},{"issue":"3","key":"10.1016\/j.archoralbio.2019.02.005_bib0025","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1016\/j.ajoms.2016.10.009","article-title":"Novel RUNX2\/CBFA1 mutation in the runt domain in a Japanese patient with cleidocranial dysplasia","volume":"29","author":"Goto","year":"2017","journal-title":"Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0030","first-page":"1057","article-title":"Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia","volume":"8","author":"Guo","year":"2015","journal-title":"International Journal of Clinical and Experimental Pathology"},{"issue":"5","key":"10.1016\/j.archoralbio.2019.02.005_bib0035","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1159\/000477307","article-title":"Novel mutation of the RUNX2 gene in patients with cleidocranial dysplasia","volume":"8","author":"Hordyjewska","year":"2017","journal-title":"Molecular Syndromology"},{"issue":"4","key":"10.1016\/j.archoralbio.2019.02.005_bib0040","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1016\/j.ijom.2010.09.025","article-title":"A novel mutation in the C-terminal region of RUNX2\/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia","volume":"40","author":"Kamamoto","year":"2011","journal-title":"International Journal of Oral and Maxillofacial Surgery"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0045","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s40902-015-0042-0","article-title":"Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation","volume":"37","author":"Lee","year":"2015","journal-title":"Maxillofacial Plastic and Reconstructive Surgery"},{"issue":"14","key":"10.1016\/j.archoralbio.2019.02.005_bib0050","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"},{"issue":"16","key":"10.1016\/j.archoralbio.2019.02.005_bib0055","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"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0060","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1083\/jcb.200105052","article-title":"Overexpression of Cbfa1 in osteoblasts inhibits osteoblast maturation and causes osteopenia with multiple fractures","volume":"155","author":"Liu","year":"2001","journal-title":"The Journal of Cell Biology"},{"issue":"2","key":"10.1016\/j.archoralbio.2019.02.005_bib0065","first-page":"115","article-title":"A novel mutation of gene CBFA1\/RUNX2 in cleidocranial dysplasia","volume":"37","author":"Lo Muzio","year":"2007","journal-title":"Annals of Clinical Laboratory Science"},{"key":"10.1016\/j.archoralbio.2019.02.005_bib0070","first-page":"71","article-title":"Different methylation patterns of RUNX2, OSX, DLX5 and BSP in osteoblastic differentiation of mesenchymal stem cells","volume":"17","author":"Majid Farshdousti","year":"2014","journal-title":"Cell Journal (Yakhteh)"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0075","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1159\/000370337","article-title":"A glutamine repeat variant of the RUNX2 gene causes cleidocranial dysplasia","volume":"6","author":"Mastushita","year":"2015","journal-title":"Molecular Syndromology"},{"issue":"8","key":"10.1016\/j.archoralbio.2019.02.005_bib0080","doi-asserted-by":"crossref","first-page":"E1587","DOI":"10.1002\/humu.21298","article-title":"Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia","volume":"31","author":"Ott","year":"2010","journal-title":"Human Mutation"},{"issue":"6","key":"10.1016\/j.archoralbio.2019.02.005_bib0085","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.jbspin.2007.10.013","article-title":"Cleidocranial dysplasia in a mother and her two children","volume":"75","author":"Pamuk","year":"2008","journal-title":"Joint, Bone, Spine: revue du rhumatisme"},{"issue":"4","key":"10.1016\/j.archoralbio.2019.02.005_bib0090","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.jds.2017.07.002","article-title":"Craniofacial features of cleidocranial dysplasia","volume":"12","author":"Pan","year":"2017","journal-title":"Journal of Dental Sciences"},{"issue":"5","key":"10.1016\/j.archoralbio.2019.02.005_bib0095","first-page":"772","article-title":"A novel gene mutation of Runx2 in cleidocranial dysplasia","volume":"37","author":"Peng","year":"2017","journal-title":"Journal of Huazhong University of Science and Technology Medical Sciences"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0100","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1601-0825.2009.01623.x","article-title":"RUNX2 mutations in cleidocranial dysplasia patients","volume":"16","author":"Ryoo","year":"2010","journal-title":"Oral Diseases"},{"issue":"08","key":"10.1016\/j.archoralbio.2019.02.005_bib0105","doi-asserted-by":"crossref","first-page":"402","DOI":"10.4236\/ojst.2013.38068","article-title":"Cleidocranial dysplasia with a rare mutation: Study of a family with review of literature","volume":"03","author":"Sekerci","year":"2013","journal-title":"Open Journal of Stomatology"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0110","first-page":"61","article-title":"Characterisation of novel RUNX2 mutation with alanine tract expansion from Japanese cleidocranial dysplasia patient","volume":"31","author":"Shibata","year":"2016","journal-title":"Mutagenesis"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0115","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/jcp.21472","article-title":"Haploinsufficiency of Runx2 results in bone formation decrease and different BSP expression pattern changes in two transgenic mouse models","volume":"217","author":"Tu","year":"2008","journal-title":"Journal of Cellular Physiology"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0120","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.4238\/2014.February.27.3","article-title":"Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: A rare presentation and an analysis of the RUNX2 protein structure","volume":"13","author":"Wu","year":"2014","journal-title":"Genetics and Molecular Research"},{"issue":"1","key":"10.1016\/j.archoralbio.2019.02.005_bib0125","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s12881-017-0375-x","article-title":"A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia","volume":"18","author":"Xu","year":"2017","journal-title":"BMC Medical Genetics"},{"key":"10.1016\/j.archoralbio.2019.02.005_bib0130","article-title":"A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia","author":"Zeng","year":"2017","journal-title":"Archives of Oral Biology"},{"issue":"9","key":"10.1016\/j.archoralbio.2019.02.005_bib0135","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1177\/0022034509342083","article-title":"Novel RUNX2 mutations in Chinese individuals with cleidocranial dysplasia","volume":"88","author":"Zhang","year":"2009","journal-title":"Journal of Dental Research"}],"container-title":["Archives of Oral Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003996918307003?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0003996918307003?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,9,11]],"date-time":"2022-09-11T23:08:24Z","timestamp":1662937704000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0003996918307003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":27,"alternative-id":["S0003996918307003"],"URL":"https:\/\/doi.org\/10.1016\/j.archoralbio.2019.02.005","relation":{},"ISSN":["0003-9969"],"issn-type":[{"value":"0003-9969","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole-exome sequencing identification of a novel splicing mutation of RUNX2 in a Chinese family with cleidocranial dysplasia","name":"articletitle","label":"Article Title"},{"value":"Archives of Oral Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.archoralbio.2019.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}