The role of genetics in the establishment and maintenance of the epigenome
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Title
The role of genetics in the establishment and maintenance of the epigenome
Authors
Keywords
Epigenetics, Mutation, Disease
Journal
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 70, Issue 9, Pages 1543-1573
Publisher
Springer Nature
Online
2013-03-09
DOI
10.1007/s00018-013-1296-2
References
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Note: Only part of the references are listed.- A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
- (2012) Daphne S. Cabianca et al. CELL
- Specificity of Dnmt1 for Methylation of Hemimethylated CpG Sites Resides in Its Catalytic Domain
- (2012) Pavel Bashtrykov et al. CHEMISTRY & BIOLOGY
- The chromatin remodeling and mRNA splicing functions of the Brahma (SWI/SNF) complex are mediated by the SNR1/SNF5 regulatory subunit
- (2012) Claudia B. Zraly et al. NUCLEIC ACIDS RESEARCH
- Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions
- (2012) Kim Debacker et al. PLOS BIOLOGY
- ATRX has a critical and conserved role in mammalian sexual differentiation
- (2011) Kim Huyhn et al. BMC DEVELOPMENTAL BIOLOGY
- The protocadherins, PCDHB1 and PCDH7, are regulated by MeCP2 in neuronal cells and brain tissues: implication for pathogenesis of Rett syndrome
- (2011) Kunio Miyake et al. BMC NEUROSCIENCE
- Aurora A Is a Repressed Effector Target of the Chromatin Remodeling Protein INI1/hSNF5 Required for Rhabdoid Tumor Cell Survival
- (2011) S. Lee et al. CANCER RESEARCH
- TERRA, CpG methylation, and telomere heterochromatin: Lessons from ICF syndrome cells
- (2011) Zhong Deng et al. CELL CYCLE
- The epigenetics of autoimmunity
- (2011) Francesca Meda et al. Cellular & Molecular Immunology
- CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin
- (2011) S Pauli et al. CLINICAL GENETICS
- Facioscapulohumeral muscular dystrophy
- (2011) Jeffrey M. Statland et al. CURRENT OPINION IN NEUROLOGY
- Methionine adenosyltransferase 1A gene deletion disrupts hepatic very low-density lipoprotein assembly in mice
- (2011) Ainara Cano et al. HEPATOLOGY
- The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9
- (2011) Arunkumar Dhayalan et al. HUMAN MOLECULAR GENETICS
- Genetic variation in the promoter of DNMT3B is associated with the risk of colorectal cancer
- (2011) Qian Bao et al. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
- CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
- (2011) J. E. H. Bergman et al. JOURNAL OF MEDICAL GENETICS
- ICF Syndrome Mutations Cause a Broad Spectrum of Biochemical Defects in DNMT3B-Mediated De Novo DNA Methylation
- (2011) Amir H. Moarefi et al. JOURNAL OF MOLECULAR BIOLOGY
- Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein
- (2011) Chia-Yun Jessica Sun et al. JOURNAL OF MOLECULAR BIOLOGY
- Fragile X-associated disorders: a clinical overview
- (2011) Anne Gallagher et al. JOURNAL OF NEUROLOGY
- RNA Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1)
- (2011) Lindsay M Wallace et al. MOLECULAR THERAPY
- Epigenetics, spermatogenesis and male infertility
- (2011) Singh Rajender et al. MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma
- (2011) Ryan D. Morin et al. NATURE
- ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome
- (2011) Shigeki Iwase et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Small Changes, Big Impact
- (2011) Dagmar E. Ehrnhoefer et al. NEUROSCIENTIST
- RFX1 regulates CD70 and CD11a expression in lupus T cells by recruiting the histone methyltransferase SUV39H1
- (2011) Ming Zhao et al. ARTHRITIS RESEARCH & THERAPY
- TheMECP2duplication syndrome
- (2010) Melissa B. Ramocki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome
- (2010) Gabriel E. Zentner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Forced Expression of Methionine Adenosyltransferase 1A in Human Hepatoma Cells Suppresses in Vivo Tumorigenicity in Mice
- (2010) Jiaping Li et al. AMERICAN JOURNAL OF PATHOLOGY
- Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome
- (2010) Dilja D. Krueger et al. Annual Review of Medicine
- Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain
- (2010) Joanne H Gibson et al. BMC NEUROSCIENCE
- Reexpression of hSNF5 in Malignant Rhabdoid Tumor Cell Lines Causes Cell Cycle Arrest through a p21CIP1/WAF1-Dependent Mechanism
- (2010) Y. Kuwahara et al. CANCER RESEARCH
- Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome
- (2010) P. J. Howard et al. CLINICAL GENETICS
- Selective Somatic Pairing and Fragility at 1q12 in a Boy with Common Variable Immuno Deficiency
- (2010) Maj Hulten CLINICAL GENETICS
- Sotos syndrome - autosomal dominant inheritance substantiated
- (2010) Ingrid M. Winship CLINICAL GENETICS
- Coffin–Lowry syndrome: A role for RSK2 in mammalian neurogenesis
- (2010) Chandrasagar B. Dugani et al. DEVELOPMENTAL BIOLOGY
- ATRX Partners with Cohesin and MeCP2 and Contributes to Developmental Silencing of Imprinted Genes in the Brain
- (2010) Kristin D. Kernohan et al. DEVELOPMENTAL CELL
- Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein
- (2010) Meredith L. Hanel et al. DIFFERENTIATION
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- (2010) Sole Gatto et al. Epigenetics
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- (2010) Cristina Gervasini et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex
- (2010) Katsuyoshi Horibata et al. GENES TO CELLS
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- (2010) L. Daxinger et al. GENOME RESEARCH
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- (2010) Marta Varela-Rey et al. HEPATOLOGY
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- (2010) Tahir Mehmood et al. HUMAN GENETICS
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- (2010) Arzu Pampal INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
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- (2010) Jeffrey C. Hansen et al. IUBMB LIFE
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- (2010) Daphne Selvaggia Cabianca et al. JOURNAL OF CELL BIOLOGY
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- (2010) Sumin Kang et al. JOURNAL OF CLINICAL INVESTIGATION
- MeCP2 Binds Cooperatively to Its Substrate and Competes with Histone H1 for Chromatin Binding Sites
- (2010) R. P. Ghosh et al. MOLECULAR AND CELLULAR BIOLOGY
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- (2010) Robert J. Lake et al. MOLECULAR CELL
- L1 retrotransposition in neurons is modulated by MeCP2
- (2010) Alysson R. Muotri et al. NATURE
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- (2010) Arturas Petronis NATURE
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- (2010) Ruchi Bajpai et al. NATURE
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- (2010) Zainab Jagani et al. NATURE MEDICINE
- Altered Intra-Nuclear Organisation of Heterochromatin and Genes in ICF Syndrome
- (2010) Andrew Jefferson et al. PLoS One
- Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function
- (2010) A. K. Lucio-Eterovic et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Deficiency of glycineN-methyltransferase results in deterioration of cellular defense to stress in mouse liver
- (2010) Yi-Jen Liao et al. Proteomics Clinical Applications
- A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
- (2010) R. J. L. F. Lemmers et al. SCIENCE
- Structure of DNMT1-DNA Complex Reveals a Role for Autoinhibition in Maintenance DNA Methylation
- (2010) J. Song et al. SCIENCE
- The Genetic Landscape of the Childhood Cancer Medulloblastoma
- (2010) D. W. Parsons et al. SCIENCE
- Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
- (2010) Lauren Snider et al. PLoS Genetics
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- (2009) Kenichi Kohashi et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- The Coffin-Lowry Syndrome-associated Protein RSK2 Controls Neuroendocrine Secretion through the Regulation of Phospholipase D1 at the Exocytotic Sites
- (2009) Maria Zeniou-Meyer et al. Annals of the New York Academy of Sciences
- Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation
- (2009) Beatrice Bodega et al. BMC BIOLOGY
- Two-stage case–control study of DNMT-1 and DNMT-3B gene variants and breast cancer risk
- (2009) Chuanzhong Ye et al. BREAST CANCER RESEARCH AND TREATMENT
- A Regulatory Mechanism for RSK2 NH2-Terminal Kinase Activity
- (2009) Y.-Y. Cho et al. CANCER RESEARCH
- Loss of SNF5 Expression Correlates with Poor Patient Survival in Melanoma
- (2009) H. Lin et al. CLINICAL CANCER RESEARCH
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- (2009) Jiabo Hu et al. DIGESTIVE DISEASES AND SCIENCES
- Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns
- (2009) M. P. Schnetz et al. GENOME RESEARCH
- Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus
- (2009) B. M. Javierre et al. GENOME RESEARCH
- Phenotypic differences between two Gnmt−/− mouse models for hepatocellular carcinoma
- (2009) Yi-Ming Arthur Chen et al. HEPATOLOGY
- Impaired liver regeneration in mice lacking glycine N-methyltransferase
- (2009) Marta Varela-Rey et al. HEPATOLOGY
- A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation
- (2009) Osman El-Maarri et al. HUMAN MOLECULAR GENETICS
- Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
- (2009) Jessica C. de Greef et al. HUMAN MUTATION
- Single nucleotide polymorphism in DNMT3B promoter and its association with hepatocellular carcinoma in a Moroccan population
- (2009) Sayeh Ezzikouri et al. INFECTION GENETICS AND EVOLUTION
- Many paths to one goal? The proteins that recognize methylated DNA in eukaryotes
- (2009) Nobuhiro Sasai et al. INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
- The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate
- (2009) Yan Li et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Inherited disorders in the conversion of methionine to homocysteine
- (2009) Ivo Barić JOURNAL OF INHERITED METABOLIC DISEASE
- Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies
- (2009) Rocio G Urdinguio et al. LANCET NEUROLOGY
- P90 Ribosomal s6 kinase 2 negatively regulates axon growth in motoneurons
- (2009) Matthias Fischer et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma
- (2009) Xiaoqing Guo et al. MOLECULAR BIOLOGY REPORTS
- Epigenetics in cancer: Targeting chromatin modifications
- (2009) L. Ellis et al. MOLECULAR CANCER THERAPEUTICS
- Inactivation of SNF5 cooperates with p53 loss to accelerate tumor formation inSnf5+/â;p53+/âmice
- (2009) Jessica DelBove et al. MOLECULAR CARCINOGENESIS
- TERRA RNA Binding to TRF2 Facilitates Heterochromatin Formation and ORC Recruitment at Telomeres
- (2009) Zhong Deng et al. MOLECULAR CELL
- Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma
- (2009) Paul A Northcott et al. NATURE GENETICS
- In Brief
- (2009) NATURE REVIEWS NEUROSCIENCE
- Regulation of NF- B by NSD1/FBXL11-dependent reversible lysine methylation of p65
- (2009) T. Lu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genome-scale approaches to the epigenetics of common human disease
- (2009) Andrew P. Feinberg VIRCHOWS ARCHIV
- Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
- (2009) Weihua Zeng et al. PLoS Genetics
- Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
- (2008) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene-dose effect from the X chromosome
- (2008) R. Hal Scofield et al. ARTHRITIS AND RHEUMATISM
- ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation
- (2008) Melanie Ehrlich et al. AUTOIMMUNITY
- Polymorphisms of the DNMT3B gene and risk of squamous cell carcinoma of the head and neck: A case–control study
- (2008) Zhensheng Liu et al. CANCER LETTERS
- RhoA-Dependent Regulation of Cell Migration by the Tumor Suppressor hSNF5/INI1
- (2008) J. Caramel et al. CANCER RESEARCH
- Transgenerational epigenetic inheritance in health and disease
- (2008) Nadia C Whitelaw et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington’s disease
- (2008) Judit Pallos et al. HUMAN MOLECULAR GENETICS
- Mutations in the chromatin-associated protein ATRX
- (2008) Richard J. Gibbons et al. HUMAN MUTATION
- Characterization of a glycine N-methyltransferase gene knockout mouse model for hepatocellular carcinoma: Implications of the gender disparity in liver cancer susceptibility
- (2008) Yi-Jen Liao et al. INTERNATIONAL JOURNAL OF CANCER
- Intra-individual Change Over Time in DNA Methylation With Familial Clustering
- (2008) Hans T. Bjornsson JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Rett Syndrome-causing Mutations in Human MeCP2 Result in Diverse Structural Changes That Impact Folding and DNA Interactions
- (2008) Rajarshi P. Ghosh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Promoter polymorphisms of DNMT3B and the risk of colorectal cancer in Chinese: a case-control study
- (2008) Hong Fan et al. JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
- Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme
- (2008) M. L. Couce et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas
- (2008) Portia A Kreiger et al. MODERN PATHOLOGY
- Loss of the Epigenetic Tumor Suppressor SNF5 Leads to Cancer without Genomic Instability
- (2008) E. S. McKenna et al. MOLECULAR AND CELLULAR BIOLOGY
- Epigenetics in Cancer
- (2008) Manel Esteller NEW ENGLAND JOURNAL OF MEDICINE
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- (2008) Dana C Dolinoy NUTRITION REVIEWS
- Common Variants within MECP2 Confer Risk of Systemic Lupus Erythematosus
- (2008) Amr H. Sawalha et al. PLoS One
- The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice
- (2008) E. A. Thomas et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
- (2008) M. Chahrour et al. SCIENCE
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- (2008) John C. Newman et al. PLoS Genetics
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- (2007) A. N. Anderson et al. BRAIN
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