Genetics meets DNA methylation in rare diseases

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

(2018) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparative methylome analysis of ICF patients identifies heterochromatin loci that require ZBTB24, CDCA7 and HELLS for their methylated state

(2018) Guillaume Velasco et al.   HUMAN MOLECULAR GENETICS

Subtelomeric methylation distinguishes between subtypes of Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome

(2018) Shir Toubiana et al.   HUMAN MOLECULAR GENETICS

HELLS and CDCA7 comprise a bipartite nucleosome remodeling complex defective in ICF syndrome

(2018) Christopher Jenness et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

(2017) Nara Sobreira et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNMT1 mutations found in HSANIE patients affect interaction with UHRF1 and neuronal differentiation

(2017) Martha Smets et al.   HUMAN MOLECULAR GENETICS

Intragenic DNA methylation prevents spurious transcription initiation

(2017) Francesco Neri et al.   NATURE

ICF-specific DNMT3B dysfunction interferes with intragenic regulation of mRNA transcription and alternative splicing

(2017) Sole Gatto et al.   NUCLEIC ACIDS RESEARCH

Mechanisms Regulating PRC2 Recruitment and Enzymatic Activity

(2017) Daniel Holoch et al.   TRENDS IN BIOCHEMICAL SCIENCES

Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

(2017) Laila C. Schenkel et al.   Epigenetics & Chromatin

Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids

(2017) Shira Sagie et al.   Nature Communications

Conditional Loss of Hoxa5 Function Early after Birth Impacts on Expression of Genes with Synaptic Function

(2017) Benoit Lizen et al.   Frontiers in Molecular Neuroscience

Tatton-Brown-Rahman syndrome due to 2p23 microdeletion

(2016) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Converging disease genes in ICF syndrome:ZBTB24controls expression ofCDCA7in mammals

(2016) Haoyu Wu et al.   HUMAN MOLECULAR GENETICS

Regulation of hematopoietic development by ZBTB transcription factors

(2016) Takahiro Maeda   INTERNATIONAL JOURNAL OF HEMATOLOGY

SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

(2016) Camille Tlemsani et al.   JOURNAL OF MEDICAL GENETICS

An essential role for UTX in resolution and activation of bivalent promoters

(2016) Shilpa S. Dhar et al.   NUCLEIC ACIDS RESEARCH

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

(2016) Kristin D. Kernohan et al.   Clinical Epigenetics

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

(2015) Jonathan Baets et al.   BRAIN

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

Germline-derived DNA methylation and early embryo epigenetic reprogramming: The selected survival of imprints

(2015) David Monk   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Genomic profiling of DNA methyltransferases reveals a role for DNMT3B in genic methylation

(2015) Tuncay Baubec et al.   NATURE

DNA methylation pathways and their crosstalk with histone methylation

(2015) Jiamu Du et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genome-Wide DNA Methylation Analysis Identifies Novel Hypomethylated Non-Pericentromeric Genes with Potential Clinical Implications in ICF Syndrome

(2015) L. Simo-Riudalbas et al.   PLoS One

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

(2015) Peter E. Thijssen et al.   Nature Communications

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

(2015) Thomas Eggermann et al.   Clinical Epigenetics

Dual Functions of the RFTS Domain of Dnmt1 in Replication-Coupled DNA Methylation and in Protection of the Genome from Aberrant Methylation

(2015) Ronald Garingalao Garvilles et al.   PLoS One

Understanding the relationship between DNA methylation and histone lysine methylation

(2014) Nathan R. Rose et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Genomic patterns and context specific interpretation of DNA methylation

(2014) Tuncay Baubec et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E

(2014) Zhifu Sun et al.   Epigenetics

Emerging Concept in DNA Methylation: Role of Transcription Factors in Shaping DNA Methylation Patterns

(2014) Claire Marchal et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Identification of Cdca7 as a novel Notch transcriptional target involved in hematopoietic stem cell emergence

(2014) Jordi Guiu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations inSETD2cause a novel overgrowth condition

(2014) Armelle Luscan et al.   JOURNAL OF MEDICAL GENETICS

The DNA methylation landscape of human early embryos

(2014) Hongshan Guo et al.   NATURE

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

(2014) Guillaume Velasco et al.   Orphanet Journal of Rare Diseases

DNA Methylation in Mammals

(2014) E. Li et al.   Cold Spring Harbor Perspectives in Biology

The NSD 1 and EZH 2 Overgrowth Genes, Similarities and Differences

(2013) KATRINA TATTON-BROWN et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

(2013) Daria Grafodatskaya et al.   BMC Medical Genomics

Conceptual links between DNA methylation reprogramming in the early embryo and primordial germ cells

(2013) Stefanie Seisenberger et al.   CURRENT OPINION IN CELL BIOLOGY

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

(2013) Corry MR Weemaes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Polycomb-Dependent H3K27me1 and H3K27me2 Regulate Active Transcription and Enhancer Fidelity

(2013) Karin J. Ferrari et al.   MOLECULAR CELL

A Y2H-seq approach defines the human protein methyltransferase interactome

(2013) Mareike Weimann et al.   NATURE METHODS

Inactive DNMT3B Splice Variants Modulate De Novo DNA Methylation

(2013) Catherine A. Gordon et al.   PLoS One

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

(2012) Holger Heyn et al.   Epigenetics

DNA replication is altered in Immunodeficiency Centromeric instability Facial anomalies (ICF) cells carrying DNMT3B mutations

(2012) Erica Lana et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

(2011) Jessica C. de Greef et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epigenetic signatures distinguish multiple classes of enhancers with distinct cellular functions

(2011) Gabriel E. Zentner et al.   GENOME RESEARCH

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

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

Structural insight into maintenance methylation by mouse DNA methyltransferase 1 (Dnmt1)

(2011) K. Takeshita et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation

(2010) Arunkumar Dhayalan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

Disruption of the epigenetic code: An emerging mechanism in mental retardation

(2010) Hans van Bokhoven et al.   NEUROBIOLOGY OF DISEASE

Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues

(2010) G. Velasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions

(2008) Shiran Yehezkel et al.   HUMAN MOLECULAR GENETICS

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

(2008) Deborah J G Mackay et al.   NATURE GENETICS