Syndromes of disordered chromatin remodeling

Crystal structure of the nucleosome core particle at 2.8 Å resolution

1997 • 8,906 citations

The language of covalent histone modifications

2000 • 8,260 citations

DNA Methyltransferases Dnmt3a and Dnmt3b Are Essential for De Novo Methylation and Mammalian Development

1999 • 5,748 citations

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

1999 • 4,776 citations

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

1998 • 3,363 citations

Histone acetylation in chromatin structure and transcription

1997 • 2,834 citations

Activation of p53 Sequence-Specific DNA Binding by Acetylation of the p53 C-Terminal Domain

1997 • 2,510 citations

The DNA methyltransferases of mammals

2000 • 1,981 citations

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

2001 • 1,502 citations

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

1983 • 1,481 citations

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

2001 • 1,241 citations

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

1995 • 1,197 citations

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

1999 • 1,168 citations

Cellular Memory and the Histone Code

2002 • 1,137 citations

The Methyl-CpG-binding Protein MeCP2 Links DNA Methylation to Histone Methylation

2003 • 960 citations

Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3

2002 • 754 citations

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

1999 • 714 citations

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

1995 • 604 citations

Acetylation of general transcription factors by histone acetyltransferases

1997 • 588 citations

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

2002 • 511 citations

Broad Thumbs and Toes and Facial Abnormalities

1963 • 501 citations

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

2000 • 494 citations

Requirement of Rsk-2 for Epidermal Growth Factor-Activated Phosphorylation of Histone H3

1999 • 478 citations

Methylation matters

2001 • 420 citations

Methyl‐CpG‐binding proteins

2001 • 405 citations

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

1996 • 398 citations

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

2002 • 341 citations

Histone acetylation and disease

2001 • 331 citations

Modulation of Chromatin Folding by Histone Acetylation

1995 • 311 citations

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

1998 • 302 citations

MECP2 Mutations in Sporadic Cases of Rett Syndrome Are Almost Exclusively of Paternal Origin

2001 • 274 citations

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

1999 • 252 citations

Transcriptional control: Versatile molecular glue

1996 • 231 citations

Molecular-clinical spectrum of the ATR-X syndrome

2000 • 225 citations

Rett variants: A suggested model for inclusion criteria

1994 • 216 citations

Rett Syndrome and MeCP2: Linking Epigenetics and Neuronal Function

2002 • 200 citations

Methyl CpG binding proteins: coupling chromatin architecture to gene regulation

2001 • 194 citations

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

2000 • 192 citations

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

2001 • 189 citations

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

2001 • 162 citations

Effects of Rett Syndrome Mutations of the Methyl-CpG Binding Domain of the Transcriptional Repressor MeCP2 on Selectivity for Association with Methylated DNA

2000 • 161 citations

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

2000 • 154 citations

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

1998 • 151 citations

Hemoglobin H Disease and Mental Retardation

1981 • 151 citations

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

2002 • 149 citations

Functional consequences of Rett syndrome mutations on human MeCP2

2000 • 148 citations

Coffin-Lowry syndrome: clinical and molecular features

2002 • 145 citations

Histone deacetylase interacts directly with DNA topoisomerase II

2000 • 140 citations

DNA Hypomethylation, Cancer, the Immunodeficiency, Centromeric Region Instability, Facial Anomalies Syndrome and Chromosomal Rearrangements

2002 • 139 citations

Mitogen-Regulated RSK2-CBP Interaction Controls Their Kinase and Acetylase Activities

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Mental Retardation With Osteocartilaginous Anomalies

1966 • 133 citations

Patterns of X chromosome inactivation in the rett syndrome

1990 • 126 citations

Rett syndrome—Clinical studies and pathophysiological consideration

1984 • 125 citations

Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)

1995 • 125 citations

Parental origin of de novo MECP2 mutations in Rett syndrome

2001 • 124 citations

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

1992 • 116 citations

A New Dominant Gene Mental Retardation Syndrome

1971 • 115 citations

The versatile functions of the transcriptional coactivators p300 and CBP and their roles in disease.

2002 • 114 citations

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

2001 • 114 citations

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

2000 • 102 citations

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

1999 • 92 citations

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

2001 • 90 citations

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

2001 • 77 citations

MeCP2 and other methyl‐cpg binding proteins

2002 • 75 citations

Selective Somatic Pairing and Fragility at 1q12 in a Boy with Common Variable Immuno Deficiency

1978 • 74 citations

The Coffin-Lowry syndrome.

1988 • 73 citations

Effect of Estradiol on Histone Acetylation Dynamics in Human Breast Cancer Cells

2001 • 65 citations

The phenotypic consequences of MECP2 mutations extend beyond rett syndrome

2002 • 60 citations

Histone variants and histone modifications: A structural perspective

2001 • 60 citations

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

2001 • 58 citations

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

1995 • 57 citations

Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

1998 • 57 citations

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

2001 • 57 citations

Rett Syndrome: Review of Biological Abnormalities

2001 • 54 citations

Towards a Behavioral Phenotype for Rett Syndrome*

2003 • 48 citations

Expanding phenotype of XNP mutations: Mild to moderate mental retardation

2002 • 48 citations

HP1 Complexes and Heterochromatin Assembly

2003 • 46 citations

X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression

1995 • 46 citations

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

1994 • 43 citations

Rubinstein-Taybi syndrome.

1987 • 41 citations

Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome

2002 • 39 citations

Dominant inheritance of a syndrome similar to Rubinstein-Taybi

1987 • 38 citations

Apparent dominant transmission of the Rubinstein‐Taybi syndrome

1993 • 37 citations

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

1998 • 36 citations

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

2002 • 32 citations

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

1985 • 32 citations

Another model for the inheritance of Rett syndrome

1990 • 32 citations

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

1992 • 29 citations

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1)

2002 • 26 citations

Rett Syndrome: Review and Discussion of Current Diagnostic Criteria

1988 • 18 citations

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

2001 • 18 citations

Chromatin modification and disease

2000 • 17 citations

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

1990 • 16 citations

Histone variants and histone modifications: A structural perspective

2001 • 8 citations

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

2001 • 8 citations