DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome

Regulation of transposable elements by DNA modifications

(2019) Özgen Deniz et al.   NATURE REVIEWS GENETICS

The chromatin remodeling protein Lsh alters nucleosome occupancy at putative enhancers and modulates binding of lineage specific transcription factors

(2019) Jianke Ren et al.   Epigenetics

Structural basis of specific DNA binding by the transcription factor ZBTB24

(2019) Ren Ren et al.   NUCLEIC ACIDS RESEARCH

The diverse roles of DNA methylation in mammalian development and disease

(2019) Maxim V. C. Greenberg et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

OUP accepted manuscript

(2018)   NUCLEIC ACIDS RESEARCH

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

Heterochromatin: Guardian of the Genome

(2018) Aniek Janssen et al.   Annual Review of Cell and Developmental Biology

Parallels between Mammalian Mechanisms of Monoallelic Gene Expression

(2018) Ahmed Amine Khamlichi et al.   TRENDS IN GENETICS

Genetics meets DNA methylation in rare diseases

(2018) Guillaume Velasco et al.   CLINICAL GENETICS

Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

(2018) Hamza A. Alghamdi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome

(2018) Motoko Unoki et al.   JOURNAL OF CLINICAL INVESTIGATION

Stella safeguards the oocyte methylome by preventing de novo methylation mediated by DNMT1

(2018) Yingfeng Li et al.   NATURE

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

(2018) Patricia Heyn et al.   NATURE GENETICS

DNMT3L facilitates DNA methylation partly by maintaining DNMT3A stability in mouse embryonic stem cells

(2018) Nicolas Veland et al.   NUCLEIC ACIDS RESEARCH

Pericentromeric hypomethylation elicits an interferon response in an animal model of ICF syndrome

(2018) Srivarsha Rajshekar et al.   eLife

Intragenic DNA methylation prevents spurious transcription initiation

(2017) Francesco Neri et al.   NATURE

The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain

(2017) Yan Jiang et al.   NATURE GENETICS

The DNA methyltransferase family: a versatile toolkit for epigenetic regulation

(2017) Frank Lyko   NATURE REVIEWS GENETICS

TET-mediated active DNA demethylation: mechanism, function and beyond

(2017) Xiaoji Wu et al.   NATURE REVIEWS GENETICS

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

(2017) Sole Gatto et al.   NUCLEIC ACIDS RESEARCH

Regulation of clustered protocadherin genes in individual neurons

(2017) Teruyoshi Hirayama et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

DNA methylation and DNA methyltransferases

(2017) John R. Edwards et al.   Epigenetics & Chromatin

Role of UHRF1 in de novo DNA methylation in oocytes and maintenance methylation in preimplantation embryos

(2017) Shoji Maenohara et al.   PLoS Genetics

Converging disease genes in ICF syndrome:ZBTB24controls expression ofCDCA7in mammals

(2016) Haoyu Wu et al.   HUMAN MOLECULAR GENETICS

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

Chromatin at the nuclear periphery and the regulation of genome functions

(2015) Charlene Lemaître et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Function and information content of DNA methylation

(2015) Dirk Schübeler   NATURE

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

(2015) Tuncay Baubec et al.   NATURE

Targeted disruption of DNMT1, DNMT3A and DNMT3B in human embryonic stem cells

(2015) Jing Liao et al.   NATURE GENETICS

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

HP1 Is Involved in Regulating the Global Impact of DNA Methylation on Alternative Splicing

(2015) Ahuvi Yearim et al.   Cell Reports

Lsh Is Essential for Maintaining Global DNA Methylation Levels in Amphibia and Fish and Interacts Directly with Dnmt1

(2015) Donncha S. Dunican et al.   Biomed Research International

In vivo targeting of de novo DNA methylation by histone modifications in yeast and mouse

(2015) Marco Morselli et al.   eLife

Genome-wide DNA methylation patterns in LSH mutant reveals de-repression of repeat elements and redundant epigenetic silencing pathways

(2014) Weishi Yu et al.   GENOME RESEARCH

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome

(2014) Shira Sagie et al.   HUMAN MOLECULAR GENETICS

Structural insight into autoinhibition and histone H3-induced activation of DNMT3A

(2014) Xue Guo et al.   NATURE

Developmental Epigenetic Modification Regulates Stochastic Expression of Clustered Protocadherin Genes, Generating Single Neuron Diversity

(2014) Shunsuke Toyoda et al.   NEURON

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

Expanding the Epigenetic Landscape: Novel Modifications of Cytosine in Genomic DNA

(2014) S. Kriaucionis et al.   Cold Spring Harbor Perspectives in Biology

DNA Methylation in Mammals

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

Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition

(2013) Alika K Maunakea et al.   CELL RESEARCH

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

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

H1 linker histone promotes epigenetic silencing by regulating both DNA methylation and histone H3 methylation

(2013) S.-M. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Replication-coupled passive DNA demethylation for the erasure of genome imprints in mice

(2012) Saya Kagiwada et al.   EMBO JOURNAL

Maintenance of DNA methylation: Dnmt3b joins the dance

(2012) Emma L. Walton et al.   Epigenetics

Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient

(2012) Holger Heyn et al.   Epigenetics

Functions of DNA methylation: islands, start sites, gene bodies and beyond

(2012) Peter A. Jones   NATURE REVIEWS GENETICS

DNA methylation dynamics during the mammalian life cycle

(2012) J. A. Hackett et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers

(2012) S. Seisenberger et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

TERRA, CpG methylation, and telomere heterochromatin: Lessons from ICF syndrome cells

(2011) Zhong Deng et al.   CELL CYCLE

Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome

(2011) Juan Sandoval et al.   Epigenetics

CTCF-promoted RNA polymerase II pausing links DNA methylation to splicing

(2011) Sanjeev Shukla et al.   NATURE

DNA methyltransferase 3b preferentially associates with condensed chromatin

(2011) Katsunobu Kashiwagi et al.   NUCLEIC ACIDS RESEARCH

Nucleosomes protect DNA from DNA methylation in vivo and in vitro

(2011) Max Felle et al.   NUCLEIC ACIDS RESEARCH

Selective Somatic Pairing and Fragility at 1q12 in a Boy with Common Variable Immuno Deficiency

(2010) Maj Hulten   CLINICAL GENETICS

LSH and G9a/GLP complex are required for developmentally programmed DNA methylation

(2010) K. Myant et al.   GENOME RESEARCH

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

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

Targets and dynamics of promoter DNA methylation during early mouse development

(2010) Julie Borgel et al.   NATURE GENETICS

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

Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX–DNMT3–DNMT3L domain

(2009) Junji Otani et al.   EMBO REPORTS

DNMT3B interacts with constitutive centromere protein CENP-C to modulate DNA methylation and the histone code at centromeric regions

(2009) Suhasni Gopalakrishnan et al.   HUMAN MOLECULAR GENETICS

Developmental programming of CpG island methylation profiles in the human genome

(2009) Ravid Straussman et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1

(2009) M. Tahiliani et al.   SCIENCE

ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation

(2008) Melanie Ehrlich et al.   AUTOIMMUNITY

Maternal and zygotic Dnmt1 are necessary and sufficient for the maintenance of DNA methylation imprints during preimplantation development

(2008) R. Hirasawa et al.   GENES & DEVELOPMENT

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