Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
暂无分享,去创建一个
Johan T den Dunnen | Martijn H Breuning | Dorien J M Peters | R. Hennekam | J. D. den Dunnen | G. V. van Ommen | S. White | C. Bacino | M. Breuning | D. Peters | D. Bartholdi | D. Niedrist | Stefan J White | Deborah Bartholdi | Gert-Jan B van Ommen | J. Roelfsema | Carlos A Bacino | Yavuz Ariyürek | F. Papadia | Raoul C Hennekam | Jeroen H Roelfsema | Yavuz Ariyürek | Dunja Niedrist | Francesco Papadia
[1] E. Seemanová,et al. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP , 2002, Journal of medical genetics.
[2] H. Masuya,et al. Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[3] Michael R. Green,et al. Nuclear protein CBP is a coactivator for the transcription factor CREB , 1994, Nature.
[4] H. Saal,et al. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome. , 2000, American journal of medical genetics.
[5] E. Kandel,et al. Chromatin Acetylation, Memory, and LTP Are Impaired in CBP+/− Mice A Model for the Cognitive Deficit in Rubinstein-Taybi Syndrome and Its Amelioration , 2004, Neuron.
[6] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.
[7] Jonas Wittwer,et al. Differential role of p300 and CBP acetyltransferase during myogenesis: p300 acts upstream of MyoD and Myf5 , 2003, The EMBO journal.
[8] C. Cruaud,et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome , 2002, Journal of medical genetics.
[9] J. Opitz,et al. Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome , 2003, Human Genetics.
[10] H. Ugai,et al. The coactivators p300 and CBP have different functions during the differentiation of F9 cells , 1999, Journal of Molecular Medicine.
[11] M. Mayford,et al. CBP Histone Acetyltransferase Activity Is a Critical Component of Memory Consolidation , 2004, Neuron.
[12] Wei Gu,et al. Activation of p53 Sequence-Specific DNA Binding by Acetylation of the p53 C-Terminal Domain , 1997, Cell.
[13] C. Glass,et al. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. , 2001, Human molecular genetics.
[14] R. Goodman,et al. Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP , 1995, Nature.
[15] S. Antonarakis,et al. Nomenclature for the description of human sequence variations , 2001, Human Genetics.
[16] R. Goodman,et al. CBP/p300 in cell growth, transformation, and development. , 2000, Genes & development.
[17] R. W. Miller,et al. Tumors in Rubinstein-Taybi syndrome. , 1995, American journal of medical genetics.
[18] C. Hui,et al. Developmentally regulated expression of the transcriptional cofactors/histone acetyltransferases CBP and p300 during mouse embryogenesis. , 1999, The International journal of developmental biology.
[19] J. Schouten,et al. Two‐color multiplex ligation‐dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses , 2004, Human mutation.
[20] David Newsome,et al. Gene Dosage–Dependent Embryonic Development and Proliferation Defects in Mice Lacking the Transcriptional Integrator p300 , 1998, Cell.
[21] L. Deaven,et al. Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. , 1997, Genomics.
[22] D. Livingston,et al. Distinct roles of the co-activators p300 and CBP in retinoic-acid-induced F9-cell differentiation , 1998, Nature.
[23] R. Hennekam,et al. Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. , 2003, Human molecular genetics.
[24] Andrew J. Bannister,et al. The CBP co-activator is a histone acetyltransferase , 1996, Nature.
[25] S. Balcı,et al. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy , 1999, European Journal of Human Genetics.
[26] Raoul C. M. Hennekam,et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP , 1995, Nature.
[27] R. Hennekam,et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations , 2000, Journal of medical genetics.
[28] E. Kalkhoven,et al. CBP and p300: HATs for different occasions. , 2004, Biochemical pharmacology.