{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T01:37:36Z","timestamp":1789609056809,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T00:00:00Z","timestamp":1503446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002551","name":"Seoul National University","doi-asserted-by":"publisher","award":["04\u20102016\u20100089"],"award-info":[{"award-number":["04\u20102016\u20100089"]}],"id":[{"id":"10.13039\/501100002551","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2014R1A2A2A01004865"],"award-info":[{"award-number":["2014R1A2A2A01004865"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2017R1A2B3011778"],"award-info":[{"award-number":["2017R1A2B3011778"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2014R1A2A2A01004865"],"award-info":[{"award-number":["2014R1A2A2A01004865"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2017R1A2B3011778"],"award-info":[{"award-number":["2017R1A2B3011778"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002551","name":"Seoul National University","doi-asserted-by":"publisher","award":["04\u20102016\u20100089"],"award-info":[{"award-number":["04\u20102016\u20100089"]}],"id":[{"id":"10.13039\/501100002551","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Cellular Biochemistry"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>To identify a novel mutation of Runx2 gene in Cleidocranial Dysplasia (CCD) patients and to characterize the functional consequences of this mutation. The subjects consisted of 12 Korean CCD patients. After oral epithelial cells were collected using a mouthwash technique, genomic DNA was extracted. Screening for <jats:italic>Runx2<\/jats:italic> mutation was performed using direct sequencing of polymerase chain reaction (PCR) products for exons 1\u20108. Restriction fragment length polymorphism (RFLP) analysis was performed to confirm the novel mutation. For functional studies, we performed luciferase assay for Runx2 transacting activity, cyclohexamide chase assay for Runx2 protein stability, real\u2010time PCR for mRNA level of Runx2 downstream bone marker genes, and alkaline phosphatase (ALP) staining assay in mesenchymal stem cells for osteoblast differentiation. Of the 12 patients, seven showed <jats:italic>Runx2<\/jats:italic> mutations reported previously and four showed no mutation. A novel mutation, G462X in exon 8, which was located in the C\u2010terminus of proline\/serine\/threonine\u2010rich (PST) domain, was found in one patient. In the luciferase assay, Runx2 transacting activity was decreased in Runx2\u2010G462X transfected cells. In the cyclohexamide chase assay, Runx2\u2010G462X mutation reduced the stability of Runx2 protein. Expression of the bone marker genes (osteocalcin, ALP, Type I collagen \u03b1I, matrix metalloproteinase\u201013, bone sialoprotein, and osteopontin) decreased in G462X\u2010transfected cells. In the ALP staining assay, osteoblast differentiation was reduced in Runx2<jats:italic>\u2010<\/jats:italic>G462X overexpressed cell. The G462X mutation might reduce the Runx2 transacting activity, lower the protein stability, downgrade the expression of bone marker genes, and eventually diminish osteoblast differentiation in CCD patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcb.26283","type":"journal-article","created":{"date-parts":[[2017,7,13]],"date-time":"2017-07-13T15:05:19Z","timestamp":1499958319000},"page":"1152-1162","source":"Crossref","is-referenced-by-count":20,"title":["A novel <i>RUNX2<\/i> mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia"],"prefix":"10.1002","volume":"119","author":[{"given":"Yu\u2010Jin","family":"Jung","sequence":"first","affiliation":[{"name":"Department of Orthodontics School of Dentistry and Dental Research Institute Seoul National University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han\u2010Sol","family":"Bae","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics School of Dentistry and Dental Research Institute BK21 Program Seoul National University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6769-8341","authenticated-orcid":false,"given":"Hyun\u2010Mo","family":"Ryoo","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics School of Dentistry and Dental Research Institute BK21 Program Seoul National University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung\u2010Hak","family":"Baek","sequence":"additional","affiliation":[{"name":"Department of Orthodontics School of Dentistry and Dental Research Institute Seoul National University Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,23]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"177","article-title":"Cleidocranial dysplasia: clinical and molecular genetics","volume":"36","author":"Mundlos S","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.20552"},{"key":"e_1_2_7_4_1","first-page":"165","article-title":"Novel mutation of cleidocranial dysplasia\u2010related frameshift runt\u2010related transcription factor 2 in a sporadic chinese case","volume":"130","author":"Qin XY","year":"2017","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn383"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-307"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80259-7"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.20715"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e3182636b7e"},{"key":"e_1_2_7_10_1","first-page":"15","article-title":"Mutations in the RUNX2 gene in Chinese patients with cleidocranial dysplasia","volume":"38","author":"Xuan D","year":"2008","journal-title":"Ann Clin Lab Sci"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.4238\/vol9-1gmr685"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/mutage\/geq044"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2010.09.025"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.4238\/2011.December.14.5"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12048"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.4238\/2014.February.27.3"},{"key":"e_1_2_7_17_1","first-page":"2490","article-title":"A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia","volume":"7","author":"Chen T","year":"2014","journal-title":"Int J Clin Exp Pathol"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01623.x"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.4238\/2013.October.15.5"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/bmb.20351"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.20038"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3076"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.12.2311"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/302622"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.114.17.3093"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00404.x"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33021"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.01.009"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20231"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.113.12.2221"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.151236498"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1086\/342717"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2004.01.010"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-009-9934-x"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22875"}],"container-title":["Journal of Cellular Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcb.26283","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcb.26283","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcb.26283","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcb.26283","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,13]],"date-time":"2025-04-13T18:19:25Z","timestamp":1744568365000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcb.26283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,23]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/jcb.26283"],"URL":"https:\/\/doi.org\/10.1002\/jcb.26283","archive":["Portico"],"relation":{},"ISSN":["0730-2312","1097-4644"],"issn-type":[{"value":"0730-2312","type":"print"},{"value":"1097-4644","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,23]]}}}