Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC,Schinzel A, Peters DJ. Genetic heterogeneity in Rubinstein-Taybi syndrome:delineation of the phenotype of the first patients carrying mutations in EP300. JMed Genet. 2007 May;44(5):327-33.
Chaffanet M, Gressin L, Preudhomme C, Soenen-Cornu V, Birnbaum D, Pébusque MJ.MOZ is fused to p300 in an acute monocytic leukemia with t(8;22). GenesChromosomes Cancer. 2000 Jun;28(2):138-44.
Debes JD, Sebo TJ, Lohse CM, Murphy LM, Haugen DA, Tindall DJ. p300 inprostate cancer proliferation and progression. Cancer Res. 2003 Nov15;63(22):7638-40.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E,Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S,Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D,Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J,Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A,Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-DelormeC, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300mutations. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi:10.1002/ajmg.a.37940.
Gayther SA, Batley SJ, Linger L, Bannister A, Thorpe K, Chin SF, Daigo Y,Russell P, Wilson A, Sowter HM, Delhanty JD, Ponder BA, Kouzarides T, Caldas C.Mutations truncating the EP300 acetylase in human cancers. Nat Genet. 2000Mar;24(3):300-3.
Goodman RH, Smolik S. CBP/p300 in cell growth, transformation, anddevelopment. Genes Dev. 2000 Jul 1;14(13):1553-77. Review.
Ida K, Kitabayashi I, Taki T, Taniwaki M, Noro K, Yamamoto M, Ohki M, Hayashi Y. Adenoviral E1A-associated protein p300 is involved in acute myeloid leukemiawith t(11;22)(q23;q13). Blood. 1997 Dec 15;90(12):4699-704.
Iyer NG, Ozdag H, Caldas C. p300/CBP and cancer. Oncogene. 2004 May24;23(24):4225-31. Review.
Janknecht R. The versatile functions of the transcriptional coactivators p300 and CBP and their roles in disease. Histol Histopathol. 2002 Apr;17(2):657-68.doi: 10.14670/HH-17.657. Review.
Kalkhoven E. CBP and p300: HATs for different occasions. Biochem Pharmacol.2004 Sep 15;68(6):1145-55. Review.
Kitabayashi I, Aikawa Y, Yokoyama A, Hosoda F, Nagai M, Kakazu N, Abe T, Ohki M. Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8;22)(p11;q13) chromosome translocation. Leukemia. 2001 Jan;15(1):89-94.
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.
Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT,Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C. From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the MutationalSpectrum and Peculiar Clinical Hallmarks. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922.
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.
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