(Q35177394)

6 August 2017

1 reference

title

Syndromes of disordered chromatin remodeling (English)

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6 August 2017

Ausió J

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6 August 2017

Levin DB

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6 August 2017

De Amorim GV

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6 August 2017

Bakker S

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6 August 2017

Macleod PM

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6 August 2017

publication date

1 August 2003

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6 August 2017

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6 August 2017

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6 August 2017

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6 August 2017

page(s)

83-95

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Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

6 August 2017

cites work

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Patterns of X chromosome inactivation in the Rett syndrome

21 January 2018

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21 January 2018

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7 January 2021

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

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A New Dominant Gene Mental Retardation Syndrome

21 January 2018

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Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.

21 January 2018

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Crystal structure of the nucleosome core particle at 2.8 Å resolution

21 January 2018

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7 January 2021

The language of covalent histone modifications

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7 January 2021

Cellular memory and the histone code

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7 January 2021

Histone acetylation in chromatin structure and transcription

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7 January 2021

Modulation of chromatin folding by histone acetylation

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7 January 2021

Histone variants and histone modifications: a structural perspective

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7 January 2021

Histone deacetylase interacts directly with DNA topoisomerase II

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7 January 2021

Effect of estradiol on histone acetylation dynamics in human breast cancer cells

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7 January 2021

Dynamics of histone acetylation in vivo. A function for acetylation turnover?

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7 January 2021

Chromatin modification and disease

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7 January 2021

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

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7 January 2021

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression

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https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Cell cycle-dependent phosphorylation of the ATRX protein correlates with changes in nuclear matrix and chromatin association

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Molecular-clinical spectrum of the ATR-X syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Expanding phenotype of XNP mutations: mild to moderate mental retardation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Towards a behavioral phenotype for Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett variants: a suggested model for inclusion criteria

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett syndrome: review of biological abnormalities.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett syndrome: review and discussion of current diagnostic criteria

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

MeCP2 and other methyl-CpG binding proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Another model for the inheritance of Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Parental origin of de novo MECP2 mutations in Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

The DNA methyltransferases of mammals

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Methyl CpG binding proteins: coupling chromatin architecture to gene regulation

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7 January 2021

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

1 reference

7 January 2021

Methyl-CpG-binding proteins. Targeting specific gene repression.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Functional consequences of Rett syndrome mutations on human MeCP2.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rett syndrome and MeCP2: linking epigenetics and neuronal function

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Centromeric heterochromatin instability of chromosomes 1, 9, and 16 in variable immunodeficiency syndrome--a virus-induced phenomenon?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

ICF syndrome (immunodeficiency, centromeric instability and facial anomalies): investigation of heterochromatin abnormalities and review of clinical outcome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

DNA hypomethylation, cancer, the immunodeficiency, centromeric region instability, facial anomalies syndrome and chromosomal rearrangements

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Satellite 2 methylation patterns in normal and ICF syndrome cells and association of hypomethylation with advanced replication

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Apparent dominant transmission of the Rubinstein-Taybi syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Dominant inheritance of a syndrome similar to Rubinstein-Taybi

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

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/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Distinct effects of cAMP and mitogenic signals on CREB-binding protein recruitment impart specificity to target gene activation via CREB.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

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/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Histone acetylation and disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Versatile molecular glue. Transcriptional control

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

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/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Acetylation of general transcription factors by histone acetyltransferases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

The Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Coffin-Lowry syndrome: clinical and molecular features

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

Mitogen-regulated RSK2-CBP interaction controls their kinase and acetylase activities

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00124.X

7 January 2021

10.1034/J.1399-0004.2003.00124.X

Identifiers

DOI

1 reference

6 August 2017

1 reference