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Zhou, V. CREBBP Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5279 (accessed on 21 September 2026).
Zhou V. CREBBP Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5279. Accessed September 21, 2026.
Zhou, Vicky. "CREBBP Gene" Encyclopedia, https://encyclopedia.pub/entry/5279 (accessed September 21, 2026).
Zhou, V. (2020, December 24). CREBBP Gene. In Encyclopedia. https://encyclopedia.pub/entry/5279
Zhou, Vicky. "CREBBP Gene." Encyclopedia. Web. 24 December, 2020.
CREBBP Gene
Edit

CREB binding protein

genes

References

  1. Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E,Skraban C, Cuddapah VA, Clayton-Smith J. Genotype-phenotype specificity inMenke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131.
  2. Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanová E, Volleth M,Haaf T, Kalscheuer VM. Evidence for a new contiguous gene syndrome, thechromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006 Sep;120(2):179-86.
  3. Bartsch O, Schmidt S, Richter M, Morlot S, Seemanová E, Wiebe G, Rasi S. DNAsequencing of CREBBP demonstrates mutations in 56% of patients withRubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. HumGenet. 2005 Sep;117(5):485-93.
  4. 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 ofCREBBP mutations in Italian patients. BMC Med Genet. 2006 Oct 19;7:77.
  5. 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-timequantitative PCR. Hum Mutat. 2004 Mar;23(3):278-84.
  6. 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.
  7. Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, anddevelopment. Genes Dev. 2000 Jul 1;14(13):1553-77. Review.
  8. Hallam TM, Bourtchouladze R. Rubinstein-Taybi syndrome: molecular findings andtherapeutic approaches to improve cognitive dysfunction. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review.
  9. Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A,Breuning MH, Hennekam RC, Peters DJ. Loss of CBP acetyltransferase activity byPHD finger mutations in Rubinstein-Taybi syndrome. Hum Mol Genet. 2003 Feb15;12(4):441-50.
  10. McManus KJ, Hendzel MJ. CBP, a transcriptional coactivator andacetyltransferase. Biochem Cell Biol. 2001;79(3):253-66. Review.
  11. Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, HufnagelSB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S,Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Further delineation of anentity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybisyndrome. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626.
  12. Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, BacinoCA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ. Geneticheterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300genes cause disease. Am J Hum Genet. 2005 Apr;76(4):572-80.
  13. 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 ChromosomesCancer. 2004 Jun;40(2):140-5.
  14. Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C,Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, FerreroGB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A,Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletionsunderlying Rubinstein-Taybi syndrome: an update of the CREBBP deletionrepertoire. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9.
  15. Stevens CA. Rubinstein-Taybi Syndrome. 2002 Aug 30 [updated 2019 Aug 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1526/
  16. Thienpont B, Béna F, Breckpot J, Philip N, Menten B, Van Esch H, Scalais E,Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, MorrisMM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K. Duplications of the critical Rubinstein-Taybideletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010 Mar;47(3):155-61. doi: 10.1136/jmg.2009.070573.
  17. Ward R, Johnson M, Shridhar V, van Deursen J, Couch FJ. CBP truncatingmutations in ovarian cancer. J Med Genet. 2005 Jun;42(6):514-8.
  18. Zhang J, Vlasevska S, Wells VA, Nataraj S, Holmes AB, Duval R, Meyer SN, Mo T,Basso K, Brindle PK, Hussein S, Dalla-Favera R, Pasqualucci L. The CREBBPAcetyltransferase Is a Haploinsufficient Tumor Suppressor in B-cell Lymphoma.Cancer Discov. 2017 Mar;7(3):322-337. doi: 10.1158/2159-8290.CD-16-1417.
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