301 related articles for article (PubMed ID: 24381114)
1. 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. PubMed ID: 24381114
[TBL] [Abstract][Full Text] [Related]
2. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
Korzus E
Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
[TBL] [Abstract][Full Text] [Related]
3. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
Lopez-Atalaya JP; Gervasini C; Mottadelli F; Spena S; Piccione M; Scarano G; Selicorni A; Barco A; Larizza L
J Med Genet; 2012 Jan; 49(1):66-74. PubMed ID: 21984751
[TBL] [Abstract][Full Text] [Related]
4. 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; 11(1):e0146366. PubMed ID: 26730956
[TBL] [Abstract][Full Text] [Related]
5. Small molecule modulators in epigenetics: implications in gene expression and therapeutics.
Swaminathan V; Reddy BA; Ruthrotha Selvi B; Sukanya MS; Kundu TK
Subcell Biochem; 2007; 41():397-428. PubMed ID: 17484138
[TBL] [Abstract][Full Text] [Related]
6. 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; 18(1):114-25. PubMed ID: 20152182
[TBL] [Abstract][Full Text] [Related]
7. Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.
Di Fede E; Ottaviano E; Grazioli P; Ceccarani C; Galeone A; Parodi C; Colombo EA; Bassanini G; Fazio G; Severgnini M; Milani D; Verduci E; Vaccari T; Massa V; Borghi E; Gervasini C
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33807238
[TBL] [Abstract][Full Text] [Related]
8. Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.
Çaksen H; Bartsch O; Okur M; Temel H; Açikgoz M; Yilmaz C
Genet Couns; 2009; 20(3):255-60. PubMed ID: 19852432
[TBL] [Abstract][Full Text] [Related]
9. 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; 10(10):1071-6. PubMed ID: 11331617
[TBL] [Abstract][Full Text] [Related]
10. Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
Huh R; Cho SY; Kim J; Ki CS; Jin DK
Ann Clin Lab Sci; 2015; 45(4):458-61. PubMed ID: 26275701
[TBL] [Abstract][Full Text] [Related]
11. 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; 12(4):441-50. PubMed ID: 12566391
[TBL] [Abstract][Full Text] [Related]
12. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Hamilton MJ; Newbury-Ecob R; Holder-Espinasse M; Yau S; Lillis S; Hurst JA; Clement E; Reardon W; Joss S; Hobson E; Blyth M; Al-Shehhi M; Lynch SA; Suri M;
Clin Dysmorphol; 2016 Oct; 25(4):135-45. PubMed ID: 27465822
[TBL] [Abstract][Full Text] [Related]
13. Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.
Kim SR; Kim HJ; Kim YJ; Kwon JY; Kim JW; Kim SH
Ann Clin Lab Sci; 2013; 43(4):450-6. PubMed ID: 24247805
[TBL] [Abstract][Full Text] [Related]
14. A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.
Caglayan AO; Lechno S; Gumus H; Bartsch O; Fryns JP
Genet Couns; 2011; 22(4):341-6. PubMed ID: 22303793
[TBL] [Abstract][Full Text] [Related]
15. 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; 12(3):2809-15. PubMed ID: 23315884
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 10699051
[TBL] [Abstract][Full Text] [Related]
17. Aberrant forms of histone acetyltransferases in human disease.
Van Beekum O; Kalkhoven E
Subcell Biochem; 2007; 41():233-62. PubMed ID: 17484131
[TBL] [Abstract][Full Text] [Related]
18. Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E; Duncan-Flavell PJ; Howarth RJ; Hobbs JI; Thomas NS; Bunyan DJ
Am J Med Genet A; 2020 Nov; 182(11):2508-2520. PubMed ID: 32827181
[TBL] [Abstract][Full Text] [Related]
19. [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].
Zhang J; Wang C; Li M; Qiu Z
Zhonghua Er Ke Za Zhi; 2014 Sep; 52(9):673-7. PubMed ID: 25476429
[TBL] [Abstract][Full Text] [Related]
20. Rubinstein-Taybi syndrome.
Kosaki R
Nihon Rinsho; 2017 Mar; 75(3):498-503. PubMed ID: 30566799
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
