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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.


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.


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.


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.


Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice.

Zheng F, Kasper LH, Bedford DC, Lerach S, Teubner BJ, Brindle PK.

PLoS One. 2016 Jan 5;11(1):e0146366. doi: 10.1371/journal.pone.0146366. eCollection 2016.


Cyclic AMP Response Element-binding Protein H (CREBH) Mediates the Inhibitory Actions of Tumor Necrosis Factor α in Osteoblast Differentiation by Stimulating Smad1 Degradation.

Jang WG, Jeong BC, Kim EJ, Choi H, Oh SH, Kim DK, Koo SH, Choi HS, Koh JT.

J Biol Chem. 2015 May 22;290(21):13556-66. doi: 10.1074/jbc.M114.587923. Epub 2015 Apr 14.


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.


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.


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.


Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.

Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, Schepis C, Romano V, Romano C.

Genet Mol Res. 2013 Jan 7;12(3):2809-15. doi: 10.4238/2013.January.7.2.


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.


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.


Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome.

Tanaka Y, Naruse I, Maekawa T, Masuya H, Shiroishi T, Ishii S.

Proc Natl Acad Sci U S A. 1997 Sep 16;94(19):10215-20.


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.


Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H.

Neuromolecular Med. 2014 Mar;16(1):16-24. doi: 10.1007/s12017-013-8285-3. Epub 2014 Jan 1.


Transcriptional regulation of BMP2 expression by the PTH-CREB signaling pathway in osteoblasts.

Zhang R, Edwards JR, Ko SY, Dong S, Liu H, Oyajobi BO, Papasian C, Deng HW, Zhao M.

PLoS One. 2011;6(6):e20780. doi: 10.1371/journal.pone.0020780. Epub 2011 Jun 9.


BMP2 protein regulates osteocalcin expression via Runx2-mediated Atf6 gene transcription.

Jang WG, Kim EJ, Kim DK, Ryoo HM, Lee KB, Kim SH, Choi HS, Koh JT.

J Biol Chem. 2012 Jan 6;287(2):905-15. doi: 10.1074/jbc.M111.253187. Epub 2011 Nov 18.


MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.

Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH.

J Clin Invest. 2011 Nov;121(11):4383-92. doi: 10.1172/JCI59041. Epub 2011 Oct 3.


CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain.

Wang J, Weaver IC, Gauthier-Fisher A, Wang H, He L, Yeomans J, Wondisford F, Kaplan DR, Miller FD.

Dev Cell. 2010 Jan 19;18(1):114-25. doi: 10.1016/j.devcel.2009.10.023.


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.


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