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Similar articles for PubMed (Select 9949198)


Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.

Oike Y, Hata A, Mamiya T, Kaname T, Noda Y, Suzuki M, Yasue H, Nabeshima T, Araki K, Yamamura K.

Hum Mol Genet. 1999 Mar;8(3):387-96.


Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

Alarcón JM, Malleret G, Touzani K, Vronskaya S, Ishii S, Kandel ER, Barco A.

Neuron. 2004 Jun 24;42(6):947-59.


A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4.

Bourtchouladze R, Lidge R, Catapano R, Stanley J, Gossweiler S, Romashko D, Scott R, Tully T.

Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10518-22. Epub 2003 Aug 20.


Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.

Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al.

Nature. 1995 Jul 27;376(6538):348-51.


Extensive brain hemorrhage and embryonic lethality in a mouse null mutant of CREB-binding protein.

Tanaka Y, Naruse I, Hongo T, Xu M, Nakahata T, Maekawa T, Ishii S.

Mech Dev. 2000 Jul;95(1-2):133-45.


Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

Murata T, Kurokawa R, Krones A, Tatsumi K, Ishii M, Taki T, Masuno M, Ohashi H, Yanagisawa M, Rosenfeld MG, Glass CK, Hayashi Y.

Hum Mol Genet. 2001 May 1;10(10):1071-6.


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.

Hum Mutat. 2004 Mar;23(3):278-84.


Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, Taine L, Cruaud C, Lacombe D, Arveiler B.

J Med Genet. 2002 Jun;39(6):415-21. No abstract available.


FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F.

Eur J Hum Genet. 1999 Oct-Nov;7(7):748-56.


Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ.

Hum Mol Genet. 2003 Feb 15;12(4):441-50.


Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH.

J Med Genet. 2000 Mar;37(3):168-76.


Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3).

Petrij F, Dorsman JC, Dauwerse HG, Giles RH, Peeters T, Hennekam RC, Breuning MH, Peters DJ.

Am J Med Genet. 2000 May 1;92(1):47-52.


Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.

Hallam TM, Bourtchouladze R.

Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review.


Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.

Taine L, Goizet C, Wen ZQ, Petrij F, Breuning MH, Aymé S, Saura R, Arveiler B, Lacombe D.

Am J Med Genet. 1998 Jul 7;78(3):267-70.


Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

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.

Am J Hum Genet. 2005 Apr;76(4):572-80. Epub 2005 Feb 10.


Administration of BMP2/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice.

Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, Ogawa W, Kasuga M, Noda T, Yang SH, Lee SK, Rebel VI, Glimcher LH.

J Clin Invest. 2012 Jan;122(1):91-106. doi: 10.1172/JCI59466. Epub 2011 Dec 1. Erratum in: J Clin Invest. 2012 May 1;122(5):1948.


Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH.

Am J Med Genet. 2000 Jan 3;90(1):29-34.


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.

J Neurosci. 2011 Feb 2;31(5):1652-63. doi: 10.1523/JNEUROSCI.4737-10.2011.


Generation of a conditional allele of the CBP gene in mouse.

Zhang Z, Hofmann C, Casanova E, Schütz G, Lutz B.

Genesis. 2004 Oct;40(2):82-9.


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.

Neurobiol Dis. 2010 Jan;37(1):186-94. doi: 10.1016/j.nbd.2009.10.001. Epub 2009 Oct 12.

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