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Epigenetics in human disease and prospects for epigenetic therapy

Data up to Jan 2025

Published2004
Citations3,142
References95

Total Citations Per Year

Abstract

References (95)

The language of covalent histone modifications

2000 • 8,260 citations

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A gene hypermethylation profile of human cancer.

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Regulation of Heterochromatic Silencing and Histone H3 Lysine-9 Methylation by RNAi

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Synergy of demethylation and histone deacetylase inhibition in the re-expression of genes silenced in cancer

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Cellular differentiation, cytidine analogs and DNA methylation

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Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.

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DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation

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X inactivation, differentiation, and DNA methylation

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Control of CpNpG DNA methylation by the KRYPTONITE histone H3 methyltransferase

2002 • 1,213 citations

Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2

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Suv39h-Mediated Histone H3 Lysine 9 Methylation Directs DNA Methylation to Major Satellite Repeats at Pericentric Heterochromatin

2003 • 1,199 citations

ARGONAUTE4 Control of Locus-Specific siRNA Accumulation and DNA and Histone Methylation

2003 • 1,041 citations

Tea polyphenol (-)-epigallocatechin-3-gallate inhibits DNA methyltransferase and reactivates methylation-silenced genes in cancer cell lines.

2003 • 1,035 citations

Fusion proteins of the retinoic acid receptor-α recruit histone deacetylase in promyelocytic leukaemia

1998 • 1,021 citations

A histone H3 methyltransferase controls DNA methylation in Neurospora crassa

2001 • 997 citations

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

2003 • 960 citations

DNA methyltransferase Dnmt1 associates with histone deacetylase activity

2000 • 960 citations

Establishment and Maintenance of a Heterochromatin Domain

2002 • 895 citations

A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer

2002 • 864 citations

The many faces of histone lysine methylation

2002 • 819 citations

Phase 1 study of low-dose prolonged exposure schedules of the hypomethylating agent 5-aza-2′-deoxycytidine (decitabine) in hematopoietic malignancies

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Loss of IGF2 Imprinting: A Potential Marker of Colorectal Cancer Risk

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Suppression of intestinal neoplasia by DNA hypomethylation

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Reactivation of an Inactive Human X Chromosome: Evidence for X Inactivation by DNA Methylation

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Loss of genomic methylation causes p53-dependent apoptosis and epigenetic deregulation

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Toxicity of 5-aza-2'-deoxycytidine to mammalian cells is mediated primarily by covalent trapping of DNA methyltransferase rather than DNA demethylation.

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DNA Methylation Decreases in Aging But Not in Immortal Cells

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Binary switches and modification cassettes in histone biology and beyond

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The SWI/SNF complex — chromatin and cancer

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Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease

2003 • 541 citations

Inhibition of DNA Methylation and Reactivation of Silenced Genes by Zebularine

2003 • 523 citations

DNA methylation controls histone H3 lysine 9 methylation and heterochromatin assembly in Arabidopsis

2002 • 489 citations

Reversal of drug resistance in human tumor xenografts by 2'-deoxy-5-azacytidine-induced demethylation of the hMLH1 gene promoter.

2000 • 487 citations

Interplay between Two Epigenetic Marks

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Germline epimutation of MLH1 in individuals with multiple cancers

2004 • 470 citations

Imprinting in Prader–Willi and Angelman syndromes

1998 • 451 citations

Histone modifications and silencing prior to DNA methylation of a tumor suppressor gene

2003 • 420 citations

Linking the epigenetic ‘language’ of covalent histone modifications to cancer

2004 • 385 citations

Histone H3-lysine 9 methylation is associated with aberrant gene silencing in cancer cells and is rapidly reversed by 5-aza-2'-deoxycytidine.

2002 • 383 citations

Prader-Willi syndrome: advances in genetics, pathophysiology and treatment

2003 • 383 citations

Zebularine: A Novel DNA Methylation Inhibitor that Forms a Covalent Complex with DNA Methyltransferases

2002 • 343 citations

Pharmacologic unmasking of epigenetically silenced tumor suppressor genes in esophageal squamous cell carcinoma

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Functional striated muscle cells from non-myoblast precursors following 5-azacytidine treatment

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Histone deacetylases

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Frequent hypomethylation of multiple genes overexpressed in pancreatic ductal adenocarcinoma.

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CpG-Island Methylation in Aging and Cancer

2000 • 302 citations

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

2000 • 299 citations

An Arabidopsis SET domain protein required for maintenance but not establishment of DNA methylation

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Erasure of CpG methylation in Arabidopsis alters patterns of histone H3 methylation in heterochromatin

2003 • 297 citations

Psammaplins from the Sponge Pseudoceratina purpurea: Inhibition of Both Histone Deacetylase and DNA Methyltransferase

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Expression of the MAGE-1 tumor antigen is up-regulated by the demethylating agent 5-aza-2'-deoxycytidine.

1994 • 292 citations

Inhibition of DNA methylation and histone deacetylation prevents murine lung cancer.

2003 • 283 citations

Effects of 5-aza-2′-deoxycytidine on fetal hemoglobin levels, red cell adhesion, and hematopoietic differentiation in patients with sickle cell disease

2003 • 273 citations

Reactivating the expression of methylation silenced genes in human cancer

2002 • 265 citations

5-Azacytidine, a new, highly effective cancerostatic

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A hereditary nonpolyposis colorectal carcinoma case associated with hypermethylation of the MLH1 gene in normal tissue and loss of heterozygosity of the unmethylated allele in the resulting microsatellite instability-high tumor.

2002 • 244 citations

Altered chromatin structure associated with methylation-induced gene silencing in cancer cells: correlation of accessibility, methylation, MeCP2 binding and acetylation

2001 • 236 citations

Cytogenetic responses in high-risk myelodysplastic syndrome following low-dose treatment with the DNA methylation inhibitor 5-aza-2'-deoxycytidine

2001 • 227 citations

RNA and the Epigenetic Regulation of X Chromosome Inactivation

1998 • 227 citations

Molecular-clinical spectrum of the ATR-X syndrome

2000 • 225 citations

Analysis of gene induction in human fibroblasts and bladder cancer cells exposed to the methylation inhibitor 5-aza-2'-deoxycytidine.

2002 • 208 citations

Epigenetic targets in hematopoietic malignancies

2003 • 207 citations

Mutagenicity of 5-aza-2′-deoxycytidine is mediated by the mammalian DNA methyltransferase

1997 • 207 citations

Role of DNA Methylation in the Regulation of Cell Function: Autoimmunity, Aging and Cancer

2002 • 203 citations

The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease

2003 • 191 citations

Reversal of GSTP1 CpG island hypermethylation and reactivation of pi-class glutathione S-transferase (GSTP1) expression in human prostate cancer cells by treatment with procainamide.

2001 • 180 citations

Activation of the p53 DNA Damage Response Pathway after Inhibition of DNA Methyltransferase by 5-Aza-2′-deoxycytidine

2001 • 174 citations

Studies of X chromosome DNA methylation in normal human cells

1982 • 157 citations

DNA Methylation and Histone Deacetylation in the Control of Gene Expression: Basic Biochemistry to Human Development and Disease

2001 • 150 citations

Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate.

1984 • 146 citations

Both Sp1 and Sp3 are responsible for p21waf1 promoter activity induced by histone deacetylase inhibitor in NIH3T3 cells

1999 • 132 citations

Specific Inhibition of DNMT1 by Antisense Oligonucleotides Induces Re-expression of Estrogen Receptor a (ER) in ER-negative Human Breast Cancer Cell Lines

2003 • 92 citations

p53-mediated repression of DNA methyltransferase 1 expression by specific DNA binding.

2003 • 89 citations

Syndromes of disordered chromatin remodeling

2003 • 89 citations

Antisense RNA in imprinting: spreading silence through Air

2002 • 86 citations

DiFferential Nuclear Protein Binding to 5-Azacytosine-Containing DNA as a Potential Mechanism for 5-Aza-2′-Deoxycytidine Resistance

1987 • 75 citations

Comment on "Chromosomal Instability and Tumors Promoted by DNA Hypomethylation" and "Induction of Tumors in Mice by Genomic Hypomethylation"

2003 • 74 citations

A Rheostat Model for a Rapid and Reversible Form of Imprinting-Dependent Evolution

2002 • 70 citations

Activation of an imprinted Igf 2 gene in mouse somatic cell cultures.

1993 • 61 citations

Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer

2004 • 56 citations

Carcinogenicity and haemoglobin synthesis induction by cytidine analogues

1988 • 53 citations

Differential nuclear protein binding to 5-azacytosine-containing DNA as a potential mechanism for 5-aza-2'-deoxycytidine resistance.

1987 • 49 citations

Chromatin Modification, Leukaemia and Implications for Therapy

2002 • 47 citations

β-adrenergic receptor induction in HeLa cells: Synergistic effect of 5-azacytidine and butyrate

1982 • 33 citations

The X chromosome and fragile X mental retardation

2002 • 23 citations

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Epigenetics in human disease and prospects for epigenetic therapy (2004) – Nature | Metascience Observatory Explorer