1. Mundlos, S S and 13 more authors.. (1997) Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.. Cell, (30): [PMID:9182765] |
2. Lee, B B and 8 more authors.. (1997) Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.. Nature genetics, [PMID:9207800] |
3. Zhang, Y W YW, Bae, S C SC, Takahashi, E E and Ito, Y Y.. (1997) The cDNA cloning of the transcripts of human PEBP2alphaA/CBFA1 mapped to 6p12.3-p21.1, the locus for cleidocranial dysplasia.. Oncogene, (17): [PMID:9233771] |
4. Geoffroy, V V, Corral, D A DA, Zhou, L L, Lee, B B and Karsenty, G G.. (1998) Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function.. Mammalian genome : official journal of the International Mammalian Genome Society, [PMID:9434946] |
5. Xiao, Z S ZS, Thomas, R R, Hinson, T K TK and Quarles, L D LD.. (1998) Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor.. Gene, (3): [PMID:9651525] |
6. Quack, I I and 12 more authors.. (1999) Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.. American journal of human genetics, [PMID:10521292] |
7. Zhou, G G and 11 more authors.. (1999) CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.. Human molecular genetics, [PMID:10545612] |
8. Zhang, Y W YW and 13 more authors.. (2000) PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients.. Gene, (22): [PMID:10689183] |
9. Giannotti, A A and 7 more authors.. (2000) A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.. Human mutation, [PMID:10980549] |
10. Otto, Florian F, Kanegane, Hirokazu H and Mundlos, Stefan S.. (2002) Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.. Human mutation, [PMID:11857736] |
11. Pelletier, Nadine N, Champagne, Nathalie N, Stifani, Stefano S and Yang, Xiang-Jiao XJ.. (2002) MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2.. Oncogene, (18): [PMID:11965546] |
12. Machuca-Tzili, L L, Monroy-Jaramillo, N N, González-del Angel, A A and Kofman-Alfaro, S S.. (2002) New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.. Clinical genetics, [PMID:12081718] |
13. Willis, David M DM and 5 more authors.. (2002) Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex.. The Journal of biological chemistry, (4): [PMID:12145306] |
14. Yoshida, Taketoshi T and 6 more authors.. (2002) Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.. American journal of human genetics, [PMID:12196916] |
15. Morava, Eva E and 5 more authors.. (2002) Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.. European journal of pediatrics, [PMID:12424590] |
16. Kim, Hyo-Jin HJ and 14 more authors.. (2006) Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.. Journal of cellular physiology, [PMID:16270353] |
17. Qiao, Meng M and 5 more authors.. (2006) Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation.. The Journal of biological chemistry, (17): [PMID:16407259] |
18. Ono, Masahiro M and 8 more authors.. (2007) Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1.. Nature, (5): [PMID:17377532] |
19. Ryoo, H-M HM, Kang, H-Y HY, Lee, S-K SK, Lee, K-E KE and Kim, J-W JW.. (2010) RUNX2 mutations in cleidocranial dysplasia patients.. Oral diseases, [PMID:19744171] |
20. Wang, G X GX, Sun, R P RP and Song, F L FL.. (2010) A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.. Genetics and molecular research : GMR, (12): [PMID:20082269] |
21. Ott, Claus E CE and 18 more authors.. (2010) Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.. Human mutation, [PMID:20648631] |
22. Moffatt, Pierre P and 14 more authors.. (2013) Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.. American journal of human genetics, (7): [PMID:23290074] |
23. Callea, Michele M and 7 more authors.. (2014) A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.. Oral health and dental management, [PMID:24984680] |
24. Zeng, Li L and 8 more authors.. (2017) Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.. Mutagenesis, (1): [PMID:28505335] |
25. Jung, Yu-Jin YJ, Bae, Han-Sol HS, Ryoo, Hyun-Mo HM and Baek, Seung-Hak SH.. (2018) A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.. Journal of cellular biochemistry, [PMID:28703881] |
26. Zhang, Xianli X and 5 more authors.. (2017) Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.. PloS one, [PMID:28738062] |