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MeSH Review

Rubinstein-Taybi Syndrome

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Disease relevance of Rubinstein-Taybi Syndrome


Psychiatry related information on Rubinstein-Taybi Syndrome


High impact information on Rubinstein-Taybi Syndrome


Chemical compound and disease context of Rubinstein-Taybi Syndrome


Biological context of Rubinstein-Taybi Syndrome


Gene context of Rubinstein-Taybi Syndrome


Analytical, diagnostic and therapeutic context of Rubinstein-Taybi Syndrome


  1. Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. Rao, S.K., Fan, D.S., Pang, C.P., Li, W.W., Ng, J.S., Good, W.V., Lam, D.S. Cornea (2002) [Pubmed]
  2. Retinal detachment with high myopia in the Rubinstein-Taybi syndrome. Marcus-Harel, T., Silverstone, B.Z., Seelenfreund, M., Schurr, D., Berson, D. Metabolic, pediatric, and systemic ophthalmology (New York, N.Y. : 1985) (1991) [Pubmed]
  3. Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study. Hellings, J.A., Hossain, S., Martin, J.K., Baratang, R.R. Am. J. Med. Genet. (2002) [Pubmed]
  4. Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis. Partanen, A., Motoyama, J., Hui, C.C. Int. J. Dev. Biol. (1999) [Pubmed]
  5. Drosophila CBP is required for dorsal-dependent twist gene expression. Akimaru, H., Hou, D.X., Ishii, S. Nat. Genet. (1997) [Pubmed]
  6. Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling. Akimaru, H., Chen, Y., Dai, P., Hou, D.X., Nonaka, M., Smolik, S.M., Armstrong, S., Goodman, R.H., Ishii, S. Nature (1997) [Pubmed]
  7. To learn better, keep the HAT on. Martin, K.C., Sun, Y.E. Neuron (2004) [Pubmed]
  8. Integrating maps of chromosome 16. Mulley, J.C., Sutherland, G.R. Curr. Opin. Genet. Dev. (1993) [Pubmed]
  9. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Roelfsema, J.H., White, S.J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C.A., den Dunnen, J.T., van Ommen, G.J., Breuning, M.H., Hennekam, R.C., Peters, D.J. Am. J. Hum. Genet. (2005) [Pubmed]
  10. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. Oike, Y., Hata, A., Mamiya, T., Kaname, T., Noda, Y., Suzuki, M., Yasue, H., Nabeshima, T., Araki, K., Yamamura, K. Hum. Mol. Genet. (1999) [Pubmed]
  11. Succinylcholine in Rubinstein-Taybi syndrome. Stirt, J.A. Anesthesiology (1982) [Pubmed]
  12. Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Alarcón, J.M., Malleret, G., Touzani, K., Vronskaya, S., Ishii, S., Kandel, E.R., Barco, A. Neuron (2004) [Pubmed]
  13. p300/CBP and cancer. Iyer, N.G., Ozdag, H., Caldas, C. Oncogene (2004) [Pubmed]
  14. Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage. Wood, M.A., Kaplan, M.P., Park, A., Blanchard, E.J., Oliveira, A.M., Lombardi, T.L., Abel, T. Learn. Mem. (2005) [Pubmed]
  15. Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome. Masuno, M., Imaizumi, K., Kurosawa, K., Makita, Y., Petrij, F., Dauwerse, H.G., Breuning, M.H., Kuroki, Y. Am. J. Med. Genet. (1994) [Pubmed]
  16. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. Bartsch, O., Locher, K., Meinecke, P., Kress, W., Seemanová, E., Wagner, A., Ostermann, K., Rödel, G. J. Med. Genet. (2002) [Pubmed]
  17. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Bartsch, O., Schmidt, S., Richter, M., Morlot, S., Seemanová, E., Wiebe, G., Rasi, S. Hum. Genet. (2005) [Pubmed]
  18. Extensive brain hemorrhage and embryonic lethality in a mouse null mutant of CREB-binding protein. Tanaka, Y., Naruse, I., Hongo, T., Xu, M., Nakahata, T., Maekawa, T., Ishii, S. Mech. Dev. (2000) [Pubmed]
  19. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. Murata, T., Kurokawa, R., Krones, A., Tatsumi, K., Ishii, M., Taki, T., Masuno, M., Ohashi, H., Yanagisawa, M., Rosenfeld, M.G., Glass, C.K., Hayashi, Y. Hum. Mol. Genet. (2001) [Pubmed]
  20. Expression of the nuclear coactivators CBP and p300 in developing craniofacial tissue. Warner, D.R., Pisano, M.M., Greene, R.M. In Vitro Cell. Dev. Biol. Anim. (2002) [Pubmed]
  21. Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. Udaka, T., Samejima, H., Kosaki, R., Kurosawa, K., Okamoto, N., Mizuno, S., Makita, Y., Numabe, H., Toral, J.F., Takahashi, T., Kosaki, K. Congenital anomalies. (2005) [Pubmed]
  22. Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia. Muneuchi, G., Kogure, T., Sano, N., Hamamoto, Y., Kishikawa, Y., Tamai, M., Igawa, H.H. Congenital anomalies. (2005) [Pubmed]
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