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MeSH Review

Cleidocranial Dysplasia

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Disease relevance of Cleidocranial Dysplasia


High impact information on Cleidocranial Dysplasia


Biological context of Cleidocranial Dysplasia


Anatomical context of Cleidocranial Dysplasia


Gene context of Cleidocranial Dysplasia


  1. Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. Yamachika, E., Tsujigiwa, H., Ishiwari, Y., Mizukawa, N., Nagai, N., Sugahara, T. J. Oral Pathol. Med. (2001) [Pubmed]
  2. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Yoshida, T., Kanegane, H., Osato, M., Yanagida, M., Miyawaki, T., Ito, Y., Shigesada, K. Am. J. Hum. Genet. (2002) [Pubmed]
  3. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. Ramesar, R.S., Greenberg, J., Martin, R., Goliath, R., Bardien, S., Mundlos, S., Beighton, P. J. Med. Genet. (1996) [Pubmed]
  4. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Garcia-Miñaur, S., Mavrogiannis, L.A., Rannan-Eliya, S.V., Hendry, M.A., Liston, W.A., Porteous, M.E., Wilkie, A.O. Eur. J. Hum. Genet. (2003) [Pubmed]
  5. RUNX genes, neoplasia, and cleidocranial dysplasia. Cohen, M.M. Am. J. Med. Genet. (2001) [Pubmed]
  6. Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia. Innis, J.W., Asher, J.H., Liang, Y., Wang, A., Wilke, C.M., Dierick, H.A., Kazen-Gillespie, K., Sheldon, S., Glover, T.W., Friedman, T.B. Am. J. Med. Genet. (1997) [Pubmed]
  7. Expression pattern, regulation, and biological role of runt domain transcription factor, run, in Caenorhabditis elegans. Nam, S., Jin, Y.H., Li, Q.L., Lee, K.Y., Jeong, G.B., Ito, Y., Lee, J., Bae, S.C. Mol. Cell. Biol. (2002) [Pubmed]
  8. Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia. Goseki-Sone, M., Orimo, H., Watanabe, A., Hamatani, R., Yokozeki, M., Ohyama, K., Kuroda, T., Watanabe, H., Miyazaki, H., Shimada, T., Oida, S. J. Bone Miner. Metab. (2001) [Pubmed]
  9. Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia. Puppin, C., Pellizzari, L., Fabbro, D., Fogolari, F., Tell, G., Tessa, A., Santorelli, F.M., Damante, G. J. Hum. Genet. (2005) [Pubmed]
  10. Upstream and downstream targets of RUNX proteins. Otto, F., Lübbert, M., Stock, M. J. Cell. Biochem. (2003) [Pubmed]
  11. Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF. Izumi, K., Yahagi, N., Fujii, Y., Higuchi, M., Kosaki, R., Naito, Y., Nishimura, G., Hosokai, N., Takahashi, T., Kosaki, K. Am. J. Med. Genet. A (2006) [Pubmed]
  12. Somatic development in cleidocranial dysplasia. Jensen, B.L. Am. J. Med. Genet. (1990) [Pubmed]
  13. Cleidocranial dysostosis, unilateral sensorineural hearing loss and gait disturbances: a clear-cut case of diagnostic mimicry? Scherer, A., Messing-Jünger, A.M., Lackmann, G.M. Neuropediatrics. (2001) [Pubmed]
  14. Cleidocranial dysplasia: Part 2--Treatment protocol for the orthodontic and surgical modality. Becker, A., Shteyer, A., Bimstein, E., Lustmann, J. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics. (1997) [Pubmed]
  15. Developmental significance of delayed closure of the mandibular symphysis. Eppley, B.L., Green, P., Bixler, D.P., Sadove, A.M. J. Oral Maxillofac. Surg. (1992) [Pubmed]
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