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“A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia”, vol. 10, pp. 3539-3544, 2011.
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Cooper SC, Flaitz CM, Johnston DA, Lee B, et al. (2001). A natural history of cleidocranial dysplasia. Am. J. Med. Genet. 104: 1-6.
http://dx.doi.org/10.1002/ajmg.10024
PMid:11746020
Gelb BD, Cooper E, Shevell M and Desnick RJ (1995). Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am. J. Med. Genet. 58: 200-205.
http://dx.doi.org/10.1002/ajmg.1320580222
PMid:8533817
Golan I, Baumert U, Hrala BP and Mussig D (2003). Dentomaxillofacial variability of cleidocranial dysplasia: clinicoradiological presentation and systematic review. Dentomaxillofac. Radiol. 32: 347-354.
http://dx.doi.org/10.1259/dmfr/63490079
PMid:15070835
Golan I, Baumert U, Hrala BP and Mussig D (2004). Early craniofacial signs of cleidocranial dysplasia. Int. J. Paediatr. Dent. 14: 49-53.
http://dx.doi.org/10.1111/j.1365-263X.2004.00501.x
PMid:14706028
Gutierrez S, Javed A, Tennant DK, van RM, et al. (2002). CCAAT/enhancer-binding proteins (C/EBP) beta and delta activate osteocalcin gene transcription and synergize with Runx2 at the C/EBP element to regulate bone-specific expression. J. Biol. Chem. 277: 1316-1323.
http://dx.doi.org/10.1074/jbc.M106611200
PMid:11668178
Komori T, Yagi H, Nomura S, Yamaguchi A, et al. (1997). Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89: 755-764.
http://dx.doi.org/10.1016/S0092-8674(00)80258-5
Li Y, Pan W, Xu W, He N, et al. (2009). RUNX2 mutations in Chinese patients with cleidocranial dysplasia. Mutagenesis 24: 425-431.
http://dx.doi.org/10.1093/mutage/gep025
PMid:19515746 PMCid:2734498
Li YL and Xiao ZS (2007). Advances in Runx2 regulation and its isoforms. Med. Hypotheses 68: 169-175.
http://dx.doi.org/10.1016/j.mehy.2006.06.006
PMid:16901655
Lou Y, Javed A, Hussain S, Colby J, et al. (2009). A Runx2 threshold for the cleidocranial dysplasia phenotype. Hum. Mol. Genet. 18: 556-568.
http://dx.doi.org/10.1093/hmg/ddn383
PMid:19028669 PMCid:2638795
McNamara CM, O'Riordan BC, Blake M and Sandy JR (1999). Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. Dentomaxillofac. Radiol. 28: 89-97.
http://dx.doi.org/10.1038/sj.dmfr.4600417
PMid:10522197
Mundlos S, Otto F, Mundlos C, Mulliken JB, et al. (1997). Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89: 773-779.
http://dx.doi.org/10.1016/S0092-8674(00)80260-3
Otto F, Thornell AP, Crompton T, Denzel A, et al. (1997). Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89: 765-771.
http://dx.doi.org/10.1016/S0092-8674(00)80259-7
Otto F, Kanegane H and Mundlos S (2002). Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum. Mutat. 19: 209-216.
http://dx.doi.org/10.1002/humu.10043
PMid:11857736
Shen Z, Zou CC, Yang RW and Zhao ZY (2009). Cleidocranial dysplasia: report of 3 cases and literature review. Clin. Pediatr. 48: 194-198.
http://dx.doi.org/10.1177/0009922808323107
PMid:18832541
Thirunavukkarasu K, Mahajan M, McLarren KW, Stifani S, et al. (1998). Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta. Mol. Cell Biol. 18: 4197-4208.
PMid:9632804 PMCid:109004
Wang GX, Sun RP and Song FL (2010). A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia. Genet. Mol. Res. 9: 41-47.
http://dx.doi.org/10.4238/vol9-1gmr685
PMid:20082269
Zhang C, Zheng S, Wang Y, Zhao Y, et al. (2010). Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. Mutagenesis 25: 594.
http://dx.doi.org/10.1093/mutage/geq044
PMid:20702542
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, et al. (1999). CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum. Mol. Genet. 8: 2311-2316.
http://dx.doi.org/10.1093/hmg/8.12.2311
PMid:10545612