(Q51906902)

17 April 2018

title

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. (English)

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17 April 2018

Rubinstein-Taybi syndrome

main subject

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Nicole Zimmermann

1

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17 April 2018

Ana Maria Bravo Ferrer Acosta

series ordinal

2

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17 April 2018

Jürgen Kohlhase

series ordinal

3

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17 April 2018

Oliver Bartsch

series ordinal

4

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17 April 2018

publication date

14 February 2007

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17 April 2018

European Journal of Human Genetics

published in

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17 April 2018

volume

15

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17 April 2018

issue

8

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17 April 2018

page(s)

837-842

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17 April 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201791

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Conjunction dysfunction: CBP/p300 in human disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Gene dosage-dependent embryonic development and proliferation defects in mice lacking the transcriptional integrator p300

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Differential role of p300 and CBP acetyltransferase during myogenesis: p300 acts upstream of MyoD and Myf5

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

CBP and p300: HATs for different occasions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

The coactivators p300 and CBP have different functions during the differentiation of F9 cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Rubinstein-Taybi syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Distinct roles of the co-activators p300 and CBP in retinoic-acid-induced F9-cell differentiation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201791

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201791

1 reference

17 April 2018

PubMed ID

17299436

1 reference

17 April 2018