The role of genetics in the establishment and maintenance of the epigenome

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

Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome

(2010) Sole Gatto et al.   Epigenetics

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

(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

Transgenerational epigenetic inheritance: More questions than answers

(2010) L. Daxinger et al.   GENOME RESEARCH

Fatty liver and fibrosis in glycine N-methyltransferase knockout mice is prevented by nicotinamide

(2010) Marta Varela-Rey et al.   HEPATOLOGY

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome

(2010) Tahir Mehmood et al.   HUMAN GENETICS

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

(2010) Gabriel E. Zentner et al.   HUMAN MOLECULAR GENETICS

CHARGE: An association or a syndrome?

(2010) Arzu Pampal   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Binding of the Rett syndrome protein, MeCP2, to methylated and unmethylated DNA and chromatin

(2010) Jeffrey C. Hansen et al.   IUBMB LIFE

FSHD: copy number variations on the theme of muscular dystrophy

(2010) Daphne Selvaggia Cabianca et al.   JOURNAL OF CELL BIOLOGY

p90 ribosomal S6 kinase 2 promotes invasion and metastasis of human head and neck squamous cell carcinoma cells

(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

UV-Induced Association of the CSB Remodeling Protein with Chromatin Requires ATP-Dependent Relief of N-Terminal Autorepression

(2010) Robert J. Lake et al.   MOLECULAR CELL

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Epigenetics as a unifying principle in the aetiology of complex traits and diseases

(2010) Arturas Petronis   NATURE

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway

(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

SMARCB1/INI1 Protein Expression in Round Cell Soft Tissue Sarcomas Associated With Chromosomal Translocations Involving EWS: A Special Reference to SMARCB1/INI1 Negative Variant Extraskeletal Myxoid Chondrosarcoma

(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

DNMT3B Promoter Polymorphism and Risk of Gastric Cancer

(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+/−;p53+/−mice

(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

The agouti mouse model: an epigenetic biosensor for nutritional and environmental alterations on the fetal epigenome

(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

An Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome

(2008) John C. Newman et al.   PLoS Genetics

Chromosomal profiles of gene expression in Huntington's disease

(2007) A. N. Anderson et al.   BRAIN