Human diseases with underlying defects in chromatin structure and modification

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

Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

1992 • 3,907 citations

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

1998 • 3,363 citations

The Transcriptional Coactivators p300 and CBP Are Histone Acetyltransferases

1996 • 2,873 citations

Regulation of chromatin structure by site-specific histone H3 methyltransferases

2000 • 2,709 citations

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

1998 • 2,686 citations

Methylation-Induced Repression— Belts, Braces, and Chromatin

1999 • 1,823 citations

The CBP co-activator is a histone acetyltransferase

1996 • 1,773 citations

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

2001 • 1,502 citations

Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer

1998 • 1,472 citations

Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA

1992 • 1,331 citations

Identification and Characterization of a Family of Mammalian Methyl-CpG Binding Proteins

1998 • 1,317 citations

MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin

1997 • 1,258 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

Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells

1988 • 891 citations

The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors

1999 • 830 citations

Association of Transcriptionally Silent Genes with Ikaros Complexes at Centromeric Heterochromatin

1997 • 792 citations

The Dermatomyositis-Specific Autoantigen Mi2 Is a Component of a Complex Containing Histone Deacetylase and Nucleosome Remodeling Activities

1998 • 791 citations

Synergistic Coupling of Histone H3 Phosphorylation and Acetylation in Response to Epidermal Growth Factor Stimulation

2000 • 782 citations

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

1999 • 714 citations

Reduced DNA methylation in Arabidopsis thaliana results in abnormal plant development.

1996 • 705 citations

Maintenance of genomic methylation requires a SWI2/SNF2-like protein

1999 • 689 citations

The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells

2001 • 673 citations

Mobilization of transposons by a mutation abolishing full DNA methylation in Arabidopsis

2001 • 626 citations

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

1995 • 604 citations

Synergistic activation of transcription by CBP and p53

1997 • 599 citations

Acetylation of general transcription factors by histone acetyltransferases

1997 • 588 citations

Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription

2001 • 540 citations

How does DNA methylation repress transcription?

1997 • 532 citations

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

1999 • 502 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

The nucleosomal response associated with immediate-early gene induction is mediated via alternative MAP kinase cascades: MSK1 as a potential histone H3/HMG-14 kinase

1999 • 441 citations

Dnmt3a and Dnmt3b Are Transcriptional Repressors That Exhibit Unique Localization Properties to Heterochromatin

2001 • 440 citations

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

1999 • 428 citations

A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase

1998 • 426 citations

Phosphoacetylation of histone H3 on c-fos- and c-jun-associated nucleosomes upon gene activation

2000 • 415 citations

Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice

2000 • 413 citations

Cloning, expression and chromosome locations of the human DNMT3 gene family

1999 • 412 citations

Conjunction dysfunction: CBP/p300 in human disease

1998 • 406 citations

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

1996 • 398 citations

Diagnostic criteria for rett syndrome

1988 • 394 citations

PIE-1 is a bifunctional protein that regulates maternal and zygotic gene expression in the embryonic germ line of Caenorhabditis elegans

2001 • 360 citations

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

2000 • 334 citations

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

1997 • 289 citations

Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling

1997 • 283 citations

Tumors in Rubinstein‐Taybi syndrome

1995 • 283 citations

An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome

1993 • 281 citations

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

2001 • 274 citations

MECP2 is highly mutated in X-linked mental retardation

2001 • 273 citations

Active Repression of Methylated Genes by the Chromosomal Protein MBD1

2000 • 254 citations

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

1999 • 252 citations

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

1996 • 250 citations

MECP2 mutation in male patients with non‐specific X‐linked mental retardation

2000 • 233 citations

MeCP2 mutations in children with and without the phenotype of Rett syndrome

2001 • 228 citations

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

2000 • 228 citations

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

2001 • 212 citations

Histone deacetylases: a common molecular target for differentiation treatment of acute myeloid leukemias?

2001 • 204 citations

Methyl CpG binding proteins: coupling chromatin architecture to gene regulation

2001 • 194 citations

Two affected boys in a Rett syndrome family

2000 • 192 citations

Transient depletion of xDnmt1 leads to premature gene activation in Xenopus embryos

2000 • 191 citations

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2

2000 • 165 citations

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

2001 • 162 citations

EGF induced SOS phosphorylation in PC12 cells involves P90 RSK-2

1997 • 157 citations

Promoter-Region Hypermethylation and Gene Silencing in Human Cancer

2000 • 154 citations

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

1998 • 151 citations

Functional consequences of Rett syndrome mutations on human MeCP2

2000 • 148 citations

Transcription therapy for cancer

2001 • 147 citations

Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant

2000 • 142 citations

Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients

1994 • 141 citations

The major dermatomyositis‐specific mi‐2 autoantigen is a presumed helicase involved in transcriptional activation

1995 • 140 citations

The MeCP1 complex represses transcription through preferential binding, remodeling, and deacetylating methylated nucleosomes

2001 • 136 citations

Patterns of X chromosome inactivation in the rett syndrome

1990 • 126 citations

Parental origin of de novo MECP2 mutations in Rett syndrome

2001 • 124 citations

Rett's syndrome in the west of Scotland.

1985 • 122 citations

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

1992 • 116 citations

5-Azacytidine-induced undercondensations in human chromosomes

1984 • 114 citations

ICF syndrome: a new case and review of the literature

1994 • 111 citations

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

2000 • 107 citations

DNA Recognition by the Methyl-CpG Binding Domain of MeCP2

2001 • 106 citations

Mammalian Methyltransferases and Methyl-CpG-Binding Domains: Proteins Involved in DNA Methylation

2000 • 101 citations

Neonatal Encephalopathy in Two Boys in Families With Recurrent Rett Syndrome

1998 • 93 citations

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

2001 • 90 citations

A synaptobrevin–like gene in the Xq28 pseudoautosomal region undergoes X inactivation

1996 • 87 citations

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

2000 • 84 citations

The Neuropathology of Rett Syndrome - Overview 1994

1995 • 81 citations

Occurrence of Rett Syndrome in Boys

2001 • 78 citations

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

2001 • 77 citations

A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy

2000 • 72 citations

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

1994 • 67 citations

Cognitive impairment in Coffin–Lowry syndrome correlates with reduced RSK2 activation

2001 • 64 citations

Reduced DNA methylation in Arabidopsis thaliana results in abnormal plant development

1996 • 62 citations

Localization of the ICF Syndrome to Chromosome 20 by Homozygosity Mapping

1998 • 57 citations

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

2000 • 53 citations

Inhibition of herpes simplex thymidine kinase gene expression by DNA methylation is an indirect effect

1985 • 45 citations

FISH analysis on spontaneously arising micronuclei in the ICF syndrome.

1995 • 30 citations

Human genetics: Methylation moves into medicine

2000 • 22 citations

Rethinking the fate of males with mutations in the gene that causes Rett syndrome

2001 • 22 citations

Genetic variation in ICF syndrome: Evidence for genetic heterogeneity

2000 • 19 citations

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

2001 • 9 citations

A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy

2000 • 9 citations

Occurrence of Rett Syndrome in Boys

2001 • 7 citations

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

2000 • 4 citations