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References

These sources were used to develop the Genetics Home Reference gene summary on the CREBBP gene.

Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005 Sep;117(5):485-93. Epub 2005 Jul 14. PubMed citation
Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77. PubMed citation
Coupry I, Monnet L, Attia AA, Taine L, Lacombe D, Arveiler B. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84. PubMed citation
Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002 Jun;39(6):415-21. PubMed citation
Entrez Gene
Gene Review: Rubinstein-Taybi Syndrome
Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, and development. Genes Dev. 2000 Jul 1;14(13):1553-77. Review. PubMed citation
Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review. PubMed citation
Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003 Feb 15;12(4):441-50. PubMed citation
McManus KJ, Hendzel MJ. CBP, a transcriptional coactivator and acetyltransferase. Biochem Cell Biol. 2001;79(3):253-66. Review. PubMed citation
Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80. Epub 2005 Feb 10. PubMed citation
Rozman M, Camós M, Colomer D, Villamor N, Esteve J, Costa D, Carrió A, Aymerich M, Aguilar JL, Domingo A, Solé F, Gomis F, Florensa L, Montserrat E, Campo E. Type I MOZ/CBP (MYST3/CREBBP) is the most common chimeric transcript in acute myeloid leukemia with t(8;16)(p11;p13) translocation. Genes Chromosomes Cancer. 2004 Jun;40(2):140-5. PubMed citation
Ward R, Johnson M, Shridhar V, van Deursen J, Couch FJ. CBP truncating mutations in ovarian cancer. J Med Genet. 2005 Jun;42(6):514-8. PubMed citation


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