Rubinstein-Taybi syndrome: clinical and molecular overview (Q36973859)

17 August 2017

1 reference

title

Rubinstein-Taybi syndrome: clinical and molecular overview (English)

1 reference

Rubinstein-Taybi syndrome

17 August 2017

1 reference

Jeroen H Roelfsema

1

1 reference

PubMed ID

17942008

17 August 2017

Dorien J M Peters

series ordinal

2

1 reference

17 August 2017

20 August 2007

1 reference

Expert Reviews in Molecular Medicine

17 August 2017

1 reference

17 August 2017

9

1 reference

17 August 2017

1-16

1 reference

17 August 2017

23

1 reference

Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome

17 August 2017

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Mutation analysis of CBP and PCAF reveals rare inactivating mutations in cancer cell lines but not in primary tumours

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

A transcription factor-binding domain of the coactivator CBP is essential for long-term memory and the expression of specific target genes

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

What's right with my mouse model? New insights into the molecular and cellular basis of cognition from mouse models of Rubinstein-Taybi Syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

CREB phosphorylation and dephosphorylation: a Ca(2+)- and stimulus duration-dependent switch for hippocampal gene expression

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Transgenic mice expressing a truncated form of CREB-binding protein (CBP) exhibit deficits in hippocampal synaptic plasticity and memory storage.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Histone acetyltransferases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

CBP histone acetyltransferase activity is a critical component of memory consolidation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Tumors in Rubinstein-Taybi syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome. Report of an unusual case

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

CBP and p300: HATs for different occasions

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

The CBP co-activator is a histone acetyltransferase

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome in a mother and son.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

The MAPK cascade is required for mammalian associative learning.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Phosphorylated CREB binds specifically to the nuclear protein CBP

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Cardiac abnormalities in the Rubinstein-Taybi syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein‐Taybi syndrome medical guidelines

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome and spontaneous keloids

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

The transcriptional coactivators p300 and CBP are histone acetyltransferases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Exploring the sequence space for tetracycline-dependent transcriptional activators: novel mutations yield expanded range and sensitivity

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

MOZ fusion proteins in acute myeloid leukaemia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome and pheochromocytoma

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Plant orthologs of p300/CBP: conservation of a core domain in metazoan p300/CBP acetyltransferase-related proteins

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Genetic demonstration of a role for PKA in the late phase of LTP and in hippocampus-based long-term memory

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Distribution of co-activators CBP and p300 during mouse oocyte and embryo development.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome and acute leukemia

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Adenoviral ElA-associated protein p300 as a functional homologue of the transcriptional co-activator CBP

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Activation of p53 sequence-specific DNA binding by acetylation of the p53 C-terminal domain

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Mutations truncating the EP300 acetylase in human cancers

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Nuclear protein CBP is a coactivator for the transcription factor CREB

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

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/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Apparent dominant transmission of the Rubinstein-Taybi syndrome.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Conjunction dysfunction: CBP/p300 in human disease.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

A CBP/p300 homolog specifies multiple differentiation pathways in Caenorhabditis elegans.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

Rubinstein-Taybi syndrome and nasopharyngeal rhabdomyosarcoma

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000415

7 January 2021

10.1017/S1462399407000415

Identifiers

DOI

0 references

PubMed ID

17942008

1 reference

PubMed ID

17942008