Genetic syndromes caused by mutations in epigenetic genes

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

(2012) Rebecca L. Hood et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

(2012) Michael A. Simpson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

(2012) Philippe M. Campeau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dose dependent expression ofHDAC4causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome

(2012) Benjamin Morris et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Mutation in Chd7 Causes Misexpression of Bmp4 and Developmental Defects in Telencephalic Midline

(2012) Xuan Jiang et al.   AMERICAN JOURNAL OF PATHOLOGY

The role of oxidative stress in Rett syndrome: an overview

(2012) Claudio De Felice et al.   Annals of the New York Academy of Sciences

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

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

(2012) Katrin Õunap et al.   European Journal of Medical Genetics

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

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

TheKAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

(2012) Philippe M. Campeau et al.   HUMAN MUTATION

EHMT1 Protein Binds to Nuclear Factor-κB p50 and Represses Gene Expression

(2012) Chee-Kwee Ea et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DiGeorge Syndrome Critical Region 8 (DGCR8) Protein-mediated microRNA Biogenesis Is Essential for Vascular Smooth Muscle Cell Development in Mice

(2012) Zixuan Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

(2012) Sonia Mayo et al.   JOURNAL OF HUMAN GENETICS

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

(2012) Yuriko Yoneda et al.   JOURNAL OF HUMAN GENETICS

MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain

(2012) M. V. C. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

DNA methylation profiling in the clinic: applications and challenges

(2012) Holger Heyn et al.   NATURE REVIEWS GENETICS

Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation

(2012) Brian R. Berquist et al.   NUCLEIC ACIDS RESEARCH

Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability

(2012) Nicole L. Batenburg et al.   NUCLEIC ACIDS RESEARCH

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The chromatin remodeling complex NuRD establishes the poised state of rRNA genes characterized by bivalent histone modifications and altered nucleosome positions

(2012) W. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure-Based Mechanistic Insights into DNMT1-Mediated Maintenance DNA Methylation

(2012) J. Song et al.   SCIENCE

Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons

(2012) Morteza Yazdani et al.   STEM CELLS

Gene Reactivation by 5-Aza-2′-Deoxycytidine–Induced Demethylation Requires SRCAP–Mediated H2A.Z Insertion to Establish Nucleosome Depleted Regions

(2012) Xiaojing Yang et al.   PLoS Genetics

Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research

(2012) Robby Mathew Zachariah et al.   NEURAL PLASTICITY

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

(2011) Jill Clayton-Smith et al.   AMERICAN JOURNAL OF HUMAN 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

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

(2011) Mark C. Hannibal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Double null cells reveal that CBP and p300 are dispensable for p53 targetsp21andMdm2but variably required for target genes of other signaling pathways

(2011) Lawryn H. Kasper et al.   CELL CYCLE

Regulation of chromatin by histone modifications

(2011) Andrew J Bannister et al.   CELL RESEARCH

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

Ezh2 regulates anteroposterior axis specification and proximodistal axis elongation in the developing limb

(2011) L. A. Wyngaarden et al.   DEVELOPMENT

Dgcr8 controls neural crest cells survival in cardiovascular development

(2011) Elik Chapnik et al.   DEVELOPMENTAL BIOLOGY

Chromatin remodelling in mammalian cells by ISWI-type complexes - where, when and why?

(2011) Fabian Erdel et al.   FEBS Journal

Mechanisms for ATP-dependent chromatin remodelling: the means to the end

(2011) Andrew Flaus et al.   FEBS Journal

Polycomb EZH2 controls self-renewal and safeguards the transcriptional identity of skeletal muscle stem cells

(2011) A. H. Juan et al.   GENES & DEVELOPMENT

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network

(2011) Yoko Nakamura et al.   HUMAN MOLECULAR GENETICS

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model

(2011) Yi Chun Chen et al.   HUMAN MOLECULAR GENETICS

DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors

(2011) Thomas Rio Frio   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

(2011) Michael Kraft et al.   JOURNAL OF CLINICAL INVESTIGATION

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

(2011) J P Lopez-Atalaya et al.   JOURNAL OF MEDICAL GENETICS

A role for glia in the progression of Rett’s syndrome

(2011) Daniel T. Lioy et al.   NATURE

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

(2011) Christopher J Klein et al.   NATURE GENETICS

Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory

(2011) Hongda Li et al.   NATURE NEUROSCIENCE

Non-coding RNAs in human disease

(2011) Manel Esteller   NATURE REVIEWS GENETICS

The involvement of epigenetic defects in mental retardation

(2011) Tamara B. Franklin et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

CTCF Regulates Ataxin-7 Expression through Promotion of a Convergently Transcribed, Antisense Noncoding RNA

(2011) Bryce L. Sopher et al.   NEURON

Epigenetic Treatments for Cognitive Impairments

(2011) Jeremy J Day et al.   NEUROPSYCHOPHARMACOLOGY

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

(2011) Cíntia B. Santos-Rebouças et al.   NEUROSCIENCE LETTERS

Heterochromatic Genes Undergo Epigenetic Changes and Escape Silencing in Immunodeficiency, Centromeric Instability, Facial Anomalies (ICF) Syndrome

(2011) Marie-Elisabeth Brun et al.   PLoS One

DNA methylation in stem cell renewal and multipotency

(2011) María Berdasco et al.   Stem Cell Research & Therapy

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

(2011) Jamie M. Kramer et al.   PLOS BIOLOGY

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Acute lymphoblastic leukemia in Weaver syndrome

(2010) Lina Basel-Vanagaite   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions

(2010) Aaron D. Goldberg et al.   CELL

ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner

(2010) Martin J. Law et al.   CELL

Structural insights into a novel histone demethylase PHF8

(2010) Lin Yu et al.   CELL RESEARCH

The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear

(2010) E. A. Hurd et al.   DEVELOPMENT

CBP Histone Acetyltransferase Activity Regulates Embryonic Neural Differentiation in the Normal and Rubinstein-Taybi Syndrome Brain

(2010) Jing Wang et al.   DEVELOPMENTAL CELL

Aberrant Epigenetic Landscape in Cancer: How Cellular Identity Goes Awry

(2010) María Berdasco et al.   DEVELOPMENTAL CELL

UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis

(2010) Shayesta Seenundun et al.   EMBO JOURNAL

Distinct roles of GCN5/PCAF-mediated H3K9ac and CBP/p300-mediated H3K18/27ac in nuclear receptor transactivation

(2010) Qihuang Jin et al.   EMBO JOURNAL

Regulating a master regulator

(2010) Arif Aziz et al.   Epigenetics

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells

(2010) L. H. Wong et al.   GENOME RESEARCH

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome

(2010) Martina P. Pasillas et al.   HUMAN MUTATION

The chromatin remodeling factor SRCAP modulates expression of prostate specific antigen and cellular proliferation in prostate cancer cells

(2010) Artur Slupianek et al.   JOURNAL OF CELLULAR PHYSIOLOGY

A Ubiquitin-Binding Domain in Cockayne Syndrome B Required for Transcription-Coupled Nucleotide Excision Repair

(2010) Roy Anindya et al.   MOLECULAR CELL

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

(2010) Daniela Kleine-Kohlbrecher et al.   MOLECULAR CELL

PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression

(2010) Wen Liu et al.   NATURE

Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development

(2010) Hank H. Qi et al.   NATURE

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Chromatin remodelling during development

(2010) Lena Ho et al.   NATURE

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

Epigenetic modifications and human disease

(2010) Anna Portela et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons

(2010) Jian Feng et al.   NATURE NEUROSCIENCE

Regulation of Synaptic Structure and Function by FMRP-Associated MicroRNAs miR-125b and miR-132

(2010) Dieter Edbauer et al.   NEURON

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres

(2010) P. W. Lewis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

(2009) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Autism-associated familial microdeletion of Xp11.22

(2009) Y Qiao et al.   CLINICAL GENETICS

Polycomb protein Ezh2 regulates pancreatic  -cell Ink4a/Arf expression and regeneration in diabetes mellitus

(2009) H. Chen et al.   GENES & DEVELOPMENT

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

(2009) M. P. Schnetz et al.   GENOME RESEARCH

Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome

(2009) W.S. Layman et al.   HUMAN MOLECULAR GENETICS

Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

(2009) V. Laugel et al.   HUMAN MUTATION

Cutting Edge: TCR Stimulation Is Sufficient for Induction of Foxp3 Expression in the Absence of DNA Methyltransferase 1

(2009) S. Z. Josefowicz et al.   JOURNAL OF IMMUNOLOGY

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

(2009) Rocio G Urdinguio et al.   LANCET NEUROLOGY

CBP/p300-mediated acetylation of histone H3 on lysine 56

(2009) Chandrima Das et al.   NATURE

Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

(2009) Nurit Ballas et al.   NATURE NEUROSCIENCE

Causes and consequences of microRNA dysregulation in cancer

(2009) Carlo M. Croce   NATURE REVIEWS GENETICS

Chromatin remodelling beyond transcription: the INO80 and SWR1 complexes

(2009) Ashby J Morrison et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein–Taybi syndrome etiology

(2009) Jose Viosca et al.   NEUROBIOLOGY OF DISEASE

Inhibitors of Class 1 Histone Deacetylases Reverse Contextual Memory Deficits in a Mouse Model of Alzheimer's Disease

(2009) Mark Kilgore et al.   NEUROPSYCHOPHARMACOLOGY

The SWI/SNF complex and cancer

(2009) D Reisman et al.   ONCOGENE

Loss of the Putative Catalytic Domain of HDAC4 Leads to Reduced Thermal Nociception and Seizures while Allowing Normal Bone Development

(2009) Indrani Rajan et al.   PLoS One

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

(2009) M. Berdasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function

(2009) J. Tao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An embryonic stem cell chromatin remodeling complex, esBAF, is an essential component of the core pluripotency transcriptional network

(2009) L. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

HDAC4 Regulates Neuronal Survival in Normal and Diseased Retinas

(2009) B. Chen et al.   SCIENCE

DICER1 Mutations in Familial Pleuropulmonary Blastoma

(2009) D. A. Hill et al.   SCIENCE

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

The novel histone deacetylase inhibitor, LBH589, induces expression of DNA damage response genes and apoptosis in Ph- acute lymphoblastic leukemia cells

(2008) A. Scuto et al.   BLOOD

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

(2008) Gwenn A. Garden et al.   CEREBELLUM

Cotreatment with Vorinostat Enhances Activity of MK-0457 (VX-680) against Acute and Chronic Myelogenous Leukemia Cells

(2008) W. Fiskus et al.   CLINICAL CANCER RESEARCH

MeCP2 preferentially binds to methylated linker DNA in the absence of the terminal tail of histone H3 and independently of histone acetylation

(2008) Toyotaka Ishibashi et al.   FEBS LETTERS

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

Genetic and epigenetic defects in mental retardation

(2008) Jamie M. Kramer et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

Therapeutic application of histone deacetylase inhibitors for central nervous system disorders

(2008) Aleksey G. Kazantsev et al.   NATURE REVIEWS DRUG DISCOVERY

Epigenetics in Cancer

(2008) Manel Esteller   NEW ENGLAND JOURNAL OF MEDICINE

Sex-Specific Expression of the X-Linked Histone Demethylase Gene Jarid1c in Brain

(2008) Jun Xu et al.   PLoS One

Mecp2-Null Mice Provide New Neuronal Targets for Rett Syndrome

(2008) Rocio G. Urdinguio et al.   PLoS One

Targeted deletion of Dicer in the heart leads to dilated cardiomyopathy and heart failure

(2008) J.-F. Chen 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

DNA methylation impacts on learning and memory in aging

(2007) Liang Liu et al.   NEUROBIOLOGY OF AGING