Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders

KAT3-dependent acetylation of cell type-specific genes maintains neuronal identity in the adult mouse brain

(2020) Michal Lipinski et al.   Nature Communications

NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing

(2020) Kenjiro Shirane et al.   NATURE GENETICS

Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor

(2019) Trang N. Le et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

MOZ directs the distal-less homeobox gene expression program during craniofacial development

(2019) Hannah K. Vanyai et al.   DEVELOPMENT

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

(2018) María López et al.   BMC Medical Genetics

Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?

(2018) F. Lonardo et al.   CLINICAL GENETICS

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

(2018) Giovanni Iacono et al.   NUCLEIC ACIDS RESEARCH

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

(2018) Joanna Kennedy et al.   GENETICS IN MEDICINE

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Kabuki syndrome: international consensus diagnostic criteria

(2018) Margaret P Adam et al.   JOURNAL OF MEDICAL GENETICS

The many lives of KATs — detectors, integrators and modulators of the cellular environment

(2018) Bilal N. Sheikh et al.   NATURE REVIEWS GENETICS

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

(2018) Niu Li et al.   Orphanet Journal of Rare Diseases

Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome

(2017) Nicolas Lebrun et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Histone Lysine Methylation and Neurodevelopmental Disorders

(2017) Jeong-Hoon Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity

(2017) Julian C Lui et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome

(2017) Karl B. Shpargel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic Modulation of Stem Cells in Neurodevelopment: The Role of Methylation and Acetylation

(2017) Martyna Podobinska et al.   Frontiers in Cellular Neuroscience

Wolf–Hirschhorn Syndrome Candidate 1 ( whsc1 ) Functions as a Tumor Suppressor by Governing Cell Differentiation

(2017) Chuan Yu et al.   NEOPLASIA

Whole exome sequencing reveals de novo pathogenic variants inKAT6Aas a cause of a neurodevelopmental disorder

(2016) Francisca Millan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation inKMT2A

(2016) Emilia Stellacci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome

(2016) J. Radvanszky et al.   CLINICAL GENETICS

Role of Intrinsic Protein Disorder in the Function and Interactions of the Transcriptional Coactivators CREB-binding Protein (CBP) and p300

(2016) H. Jane Dyson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of KAT6 Acetyltransferases and Their Roles in Cell Cycle Progression, Stem Cell Maintenance, and Human Disease

(2016) Fu Huang et al.   MOLECULAR AND CELLULAR BIOLOGY

A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation

(2016) Shigeki Iwase et al.   Cell Reports

Is histone acetylation the most important physiological function for CBP and p300?

(2016) David C. Bedford et al.   Aging-US

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

(2015) Emma Tham et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MOZ and MORF acetyltransferases: Molecular interaction, animal development and human disease

(2015) Xiang-Jiao Yang   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

(2015) N. Miyake et al.   CLINICAL GENETICS

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

(2015) Marketa Vlckova et al.   European Journal of Medical Genetics

Kabuki syndrome genesKMT2DandKDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

(2015) Peter M. Van Laarhoven et al.   HUMAN MOLECULAR GENETICS

Rubinstein-Taybi Syndrome

(2015) Douglas T. Hutchinson et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

Neuronal Kmt2a/Mll1 Histone Methyltransferase Is Essential for Prefrontal Synaptic Plasticity and Working Memory

(2015) M. Jakovcevski et al.   JOURNAL OF NEUROSCIENCE

HDAC4 as a potential therapeutic target in neurodegenerative diseases: a summary of recent achievements

(2015) Michal Mielcarek et al.   Frontiers in Cellular Neuroscience

Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

(2015) Mariam Almuriekhi et al.   Cell Reports

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals

(2014) Patricia G. Wheeler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation inKDM6A

(2014) Damien Lederer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

NovelKDM6A(UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)

(2014) S. Banka et al.   CLINICAL GENETICS

Further delineation of the KAT6B molecular and phenotypic spectrum

(2014) Tamsin Gannon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome

(2014) H. T. Bjornsson et al.   Science Translational Medicine

Erasers of Histone Acetylation: The Histone Deacetylase Enzymes

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

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lysine Acetyltransferases CBP and p300 as Therapeutic Targets in Cognitive and Neurodegenerative Disorders

(2013) Luis Valor et al.   CURRENT PHARMACEUTICAL DESIGN

Crosstalk between epigenetic readers regulates the MOZ/MORF HAT complexes

(2013) Brianna J Klein et al.   Epigenetics

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

(2013) Cristina Gervasini et al.   European Journal of Medical Genetics

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

Histone acetylation: molecular mnemonics on the chromatin

(2013) Johannes Gräff et al.   NATURE REVIEWS NEUROSCIENCE

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

(2013) Elizabeth Park et al.   NEUROMOLECULAR MEDICINE

HDAC4 Does Not Act as a Protein Deacetylase in the Postnatal Murine Brain In Vivo

(2013) Michal Mielcarek et al.   PLoS One

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones 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

HDAC4 Governs a Transcriptional Program Essential for Synaptic Plasticity and Memory

(2012) Richard Sando et al.   CELL

MOZ Regulates the Tbx1 Locus, and Moz Mutation Partially Phenocopies DiGeorge Syndrome

(2012) Anne K. Voss et al.   DEVELOPMENTAL CELL

Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

(2012) Pablo Villavicencio-Lorini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

(2012) Camille Leroy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

KDM6A Point Mutations Cause Kabuki Syndrome

(2012) Noriko Miyake et al.   HUMAN MUTATION

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

Querkopf is a key marker of self-renewal and multipotency of adult neural stem cells

(2012) B. N. Sheikh et al.   JOURNAL OF CELL SCIENCE

Directional Neuronal Migration Is Impaired in Mice Lacking Adenomatous Polyposis Coli 2

(2012) T. Shintani et al.   JOURNAL OF NEUROSCIENCE

An Essential Role for Histone Deacetylase 4 in Synaptic Plasticity and Memory Formation

(2012) M.-S. Kim et al.   JOURNAL OF NEUROSCIENCE

Conditional deletion of histone deacetylase-4 in the central nervous system has no major effect on brain architecture or neuronal viability

(2012) Valerie Price et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Generation of the Sotos syndrome deletion in mice

(2012) Anna M. Migdalska et al.   MAMMALIAN GENOME

Histone Lysine Methylation Dynamics: Establishment, Regulation, and Biological Impact

(2012) Joshua C. Black et al.   MOLECULAR CELL

Understanding transgenerational epigenetic inheritance via the gametes in mammals

(2012) Lucia Daxinger et al.   NATURE REVIEWS GENETICS

An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy

(2012) Mark J. Millan   NEUROPHARMACOLOGY

UTX and UTY Demonstrate Histone Demethylase-Independent Function in Mouse Embryonic Development

(2012) Karl B. Shpargel et al.   PLoS 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

Regulation of chromatin by histone modifications

(2011) Andrew J Bannister et al.   CELL RESEARCH

UTX, a Histone H3-Lysine 27 Demethylase, Acts as a Critical Switch to Activate the Cardiac Developmental Program

(2011) Seunghee Lee et al.   DEVELOPMENTAL CELL

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

A mutation screen in patients with Kabuki syndrome

(2011) Yun Li et al.   HUMAN GENETICS

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

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

The Polycomb complex PRC2 and its mark in life

(2011) Raphaël Margueron et al.   NATURE

HDAC3 and the molecular brake pad hypothesis

(2011) Susan C. McQuown et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

Hippocampal Focal Knockout of CBP Affects Specific Histone Modifications, Long-Term Potentiation and Long-Term Memory

(2011) Ruth M Barrett et al.   NEUROPSYCHOPHARMACOLOGY

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

Wiedemann-Steiner syndrome: Three further cases

(2010) Rainer Koenig et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mixed lineage leukemia: a structure-function perspective of the MLL1 protein

(2010) Michael S. Cosgrove et al.   FEBS Journal

The histone demethylase UTX enables RB-dependent cell fate control

(2010) J. K. Wang et al.   GENES & DEVELOPMENT

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

Histone Methylation Regulates Memory Formation

(2010) S. Gupta et al.   JOURNAL OF NEUROSCIENCE

Jmjd3 and UTX Play a Demethylase-Independent Role in Chromatin Remodeling to Regulate T-Box Family Member-Dependent Gene Expression

(2010) Sara A. Miller et al.   MOLECULAR CELL

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

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

Histone modification levels are predictive for gene expression

(2010) R. Karlic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Moz and Retinoic Acid Coordinately Regulate H3K9 Acetylation, Hox Gene Expression, and Segment Identity

(2009) Anne K. Voss et al.   DEVELOPMENTAL CELL

An operational definition of epigenetics

(2009) S. L. Berger et al.   GENES & DEVELOPMENT

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

Histone modifications at human enhancers reflect global cell-type-specific gene expression

(2009) Nathaniel D. Heintzman et al.   NATURE

A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome

(2009) Keisuke Nimura et al.   NATURE

Linking DNA methylation and histone modification: patterns and paradigms

(2009) Howard Cedar et al.   NATURE REVIEWS GENETICS

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

HDAC4 inhibits cell-cycle progression and protects neurons from cell death

(2008) Nazanin Majdzadeh et al.   Developmental Neurobiology

Sex-Specific Differences in Expression of Histone Demethylases Utx and Uty in Mouse Brain and Neurons

(2008) J. Xu et al.   JOURNAL OF NEUROSCIENCE