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Volumn 49, Issue 1, 2012, Pages 66-74

Histone acetylation deficits in lymphoblastoid cell lines from patients with rubinstein-Taybi syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; HISTONE DEACETYLASE INHIBITOR; HISTONE H2A; HISTONE H2B;

EID: 84856011661     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100354     Document Type: Article
Times cited : (57)

References (50)
  • 1
    • 73649208151 scopus 로고
    • Broad thumbs and toes and facial abnormalities A possible mental retardation syndrome
    • Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 1963;105:588-608.
    • (1963) Am J Dis Child , vol.105 , pp. 588-608
    • Rubinstein, J.H.1    Taybi, H.2
  • 2
  • 5
    • 33747772028 scopus 로고    scopus 로고
    • Rubinstein-Taybi syndrome
    • Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet 2006;14:981-5.
    • (2006) Eur J Hum Genet , vol.14 , pp. 981-985
    • Hennekam, R.C.1
  • 8
    • 77950389851 scopus 로고    scopus 로고
    • Rubinstein-Taybi syndrome in first cousins with different de novo mutations
    • Balci S, Ali Ergun M, Lechno S, Bartsch O. Rubinstein-Taybi syndrome in first cousins with different de novo mutations. Am J Med Genet A 2010;152A:1036-8.
    • (2010) Am J Med Genet A , vol.152 A , pp. 1036-1038
    • Balci, S.1    Ali Ergun, M.2    Lechno, S.3    Bartsch, O.4
  • 10
    • 0036071347 scopus 로고    scopus 로고
    • 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. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet 2002;39:496-501.
    • (2002) J Med Genet , vol.39 , pp. 496-501
    • Bartsch, O.1    Locher, K.2    Meinecke, P.3    Kress, W.4    Seemanová, E.5    Wagner, A.6    Ostermann, K.7    Rödel, G.8
  • 11
    • 24144501159 scopus 로고    scopus 로고
    • 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. 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;117:485-93.
    • (2005) Hum Genet , vol.117 , pp. 485-493
    • Bartsch, O.1    Schmidt, S.2    Richter, M.3    Morlot, S.4    Seemanová, E.5    Wiebe, G.6    Rasi, S.7
  • 13
    • 1542409983 scopus 로고    scopus 로고
    • Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real time quantitative PCR
    • 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;23:278-84.
    • (2004) Hum Mutat , vol.23 , pp. 278-284
    • Coupry, I.1    Monnet, L.2    Attia, A.A.3    Taine, L.4    Lacombe, D.5    Arveiler, B.6
  • 16
    • 78049250010 scopus 로고    scopus 로고
    • A novel mutation c 4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features
    • Li C, Szybowska M. A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features. Am J Med Genet A 2010;152A:2939-41.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2939-2941
    • Li, C.1    Szybowska, M.2
  • 23
    • 0026649483 scopus 로고
    • Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13 3
    • Lacombe D, Saura R, Taine L, Battin J. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Am J Med Genet 1992;44:126-8.
    • (1992) Am J Med Genet , vol.44 , pp. 126-128
    • Lacombe, D.1    Saura, R.2    Taine, L.3    Battin, J.4
  • 24
    • 0026658524 scopus 로고
    • Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16) (q34;p13 3)
    • Tommerup N, van der Hagen CB, Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16) (q34;p13.3). Am J Med Genet 1992;44:237-41.
    • (1992) Am J Med Genet , vol.44 , pp. 237-241
    • Tommerup, N.1    van der Hagen, C.B.2    Heiberg, A.3
  • 27
    • 34547169962 scopus 로고    scopus 로고
    • Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome
    • Zimmermann N, Acosta AM, Kohlhase J, Bartsch O. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet 2007;15:837-42.
    • (2007) Eur J Hum Genet , vol.15 , pp. 837-842
    • Zimmermann, N.1    Acosta, A.M.2    Kohlhase, J.3    Bartsch, O.4
  • 28
    • 66849111902 scopus 로고    scopus 로고
    • Further case of Rubinstein-Taybi syndrome due to a deletion in EP300
    • Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A 2009;149A:997-1000.
    • (2009) Am J Med Genet A , vol.149 A , pp. 997-1000
    • Foley, P.1    Bunyan, D.2    Stratton, J.3    Dillon, M.4    Lynch, S.A.5
  • 30
    • 0030606239 scopus 로고    scopus 로고
    • The transcriptional coactivators p300 and CBP are histone acetyltransferases
    • Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y. The transcriptional coactivators p300 and CBP are histone acetyltransferases. Cell 1996;87:953-9.
    • (1996) Cell , vol.87 , pp. 953-959
    • Ogryzko, V.V.1    Schiltz, R.L.2    Russanova, V.3    Howard, B.H.4    Nakatani, Y.5
  • 32
    • 0032829090 scopus 로고    scopus 로고
    • Avantaggiati ML. p300 and CBP: partners for life and death
    • Giordano A, Avantaggiati ML. p300 and CBP: partners for life and death. J Cell Physiol 1999;181:218-30.
    • (1999) J Cell Physiol , vol.181 , pp. 218-230
    • Giordano, A.1
  • 33
    • 4143098311 scopus 로고    scopus 로고
    • CBP and p300: HATs for different occasions
    • Kalkhoven E. CBP and p300: HATs for different occasions. Biochem Pharmacol 2004;68:1145-55.
    • (2004) Biochem Pharmacol , vol.68 , pp. 1145-1155
    • Kalkhoven, E.1
  • 34
    • 34248340376 scopus 로고    scopus 로고
    • The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse
    • Barco A. The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse. Genes Brain Behav 2007;6(Suppl 1):32-9.
    • (2007) Genes Brain Behav , vol.6 , Issue.SUPPL 1 , pp. 32-39
    • Barco, A.1
  • 36
    • 2942705826 scopus 로고    scopus 로고
    • Chromatin acetylation, memory, and LTP are impaired in CBP+/ mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration
    • Alarcon JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A. Chromatin acetylation, memory, and LTP are impaired in CBP+/ mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron 2004;42:947-59.
    • (2004) Neuron , vol.42 , pp. 947-959
    • Alarcon, J.M.1    Malleret, G.2    Touzani, K.3    Vronskaya, S.4    Ishii, S.5    Kandel, E.R.6    Barco, A.7
  • 37
    • 2942731425 scopus 로고    scopus 로고
    • CBP histone acetyltransferase activity is a critical component of memory consolidation
    • Korzus E, Rosenfeld MG, Mayford M. CBP histone acetyltransferase activity is a critical component of memory consolidation. Neuron 2004;42: 961-72.
    • (2004) Neuron , vol.42 , pp. 961-972
    • Korzus, E.1    Rosenfeld, M.G.2    Mayford, M.3
  • 38
    • 17144374869 scopus 로고    scopus 로고
    • Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage
    • Wood MA, Kaplan MP, Park A, Blanchard EJ, Oliveira AM, Lombardi TL, Abel T. Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage. Learn Mem 2005;12:111-19.
    • (2005) Learn Mem , vol.12 , pp. 111-119
    • Wood, M.A.1    Kaplan, M.P.2    Park, A.3    Blanchard, E.J.4    Oliveira, A.M.5    Lombardi, T.L.6    Abel, T.7
  • 39
    • 77957343182 scopus 로고    scopus 로고
    • CREB binding protein is required for both short-term and long-term memory formation
    • Chen G, Zou X, Watanabe H, van Deursen JM, Shen J. CREB binding protein is required for both short-term and long-term memory formation. J Neurosci 2010;30:13066-77.
    • (2010) J Neurosci , vol.30 , pp. 13066-13077
    • Chen, G.1    Zou, X.2    Watanabe, H.3    van Deursen, J.M.4    Shen, J.5
  • 40
    • 79551508983 scopus 로고    scopus 로고
    • Ablation of CBP in forebrain principal neurons causes modest memory and transcriptional defects and a dramatic reduction of histone acetylation, but does not affect cell viability
    • Valor LM, Pulopulos MM, Jimenez-Minchan M, Olivares R, Lutz B, Barco A. Ablation of CBP in forebrain principal neurons causes modest memory and transcriptional defects and a dramatic reduction of histone acetylation, but does not affect cell viability. J Neurosci 2011;31:1652-63.
    • (2011) J Neurosci , vol.31 , pp. 1652-1663
    • Valor, L.M.1    Pulopulos, M.M.2    Jimenez-Minchan, M.3    Olivares, R.4    Lutz, B.5    Barco, A.6
  • 42
    • 70449533656 scopus 로고    scopus 로고
    • Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology
    • Viosca J, Lopez-Atalaya JP, Olivares R, Eckner R, Barco A. Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology. Neurobiol Dis 2010;37:186-94.
    • (2010) Neurobiol Dis , vol.37 , pp. 186-194
    • Viosca, J.1    Lopez-Atalaya, J.P.2    Olivares, R.3    Eckner, R.4    Barco, A.5
  • 43
    • 70449530489 scopus 로고    scopus 로고
    • Selective boosting of transcriptional and behavioral responses to drugs of abuse by histone deacetylase inhibition
    • Sanchis-Segura C, Lopez-Atalaya JP, Barco A. Selective boosting of transcriptional and behavioral responses to drugs of abuse by histone deacetylase inhibition. Neuropsychopharmacology 2009;34:2642-54.
    • (2009) Neuropsychopharmacology , vol.34 , pp. 2642-2654
    • Sanchis-Segura, C.1    Lopez-Atalaya, J.P.2    Barco, A.3
  • 48
    • 77956649731 scopus 로고    scopus 로고
    • Joining the dots: from chromatin remodeling to neuronal plasticity
    • Zocchi L, Sassone-Corsi P. Joining the dots: from chromatin remodeling to neuronal plasticity. Curr Opin Neurobiol 2010;20:432-40.
    • (2010) Curr Opin Neurobiol , vol.20 , pp. 432-440
    • Zocchi, L.1    Sassone-Corsi, P.2
  • 50
    • 53249130741 scopus 로고    scopus 로고
    • Therapeutic application of histone deacetylase inhibitors for central nervous system disorders
    • Kazantsev AG, Thompson LM. Therapeutic application of histone deacetylase inhibitors for central nervous system disorders. Nat Rev Drug Discov 2008;7:854-68.
    • (2008) Nat Rev Drug Discov , vol.7 , pp. 854-868
    • Kazantsev, A.G.1    Thompson, L.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.