SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder

Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells

(2023) Tsukasa Sanosaka et al.   Scientific Reports

MLL3/MLL4 methyltransferase activities control early embryonic development and embryonic stem cell differentiation in a lineage-selective manner

(2023) Guojia Xie et al.   NATURE GENETICS

KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells

(2023) Sofija Vlasevska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

KDM6A-Mediated Regulation of Cranial Frontal Bone Suture Fusion in Mice Is Sex Dependent

(2023) Clara Pribadi et al.   STEM CELLS AND DEVELOPMENT

Histone editing elucidates the functional roles of H3K27 methylation and acetylation in mammals

(2022) Aditya Sankar et al.   NATURE GENETICS

From Genotype to Phenotype—A Review of Kabuki Syndrome

(2022) Kelly K. Barry et al.   Genes

Interplay of BAF and MLL4 promotes cell type-specific enhancer activation

(2021) Young-Kwon Park et al.   Nature Communications

Genome folding through loop extrusion by SMC complexes

(2021) Iain F. Davidson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

CHARGE syndrome and related disorders: a mechanistic link

(2021) Roser Ufartes et al.   HUMAN MOLECULAR GENETICS

Histone H3K27 demethylase, Utx, regulates osteoblast-to-osteocyte differentiation

(2021) Yuhan Xia et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

BRD4 orchestrates genome folding to promote neural crest differentiation

(2021) Ricardo Linares-Saldana et al.   NATURE GENETICS

MLL4 is required after implantation whereas MLL3 becomes essential during late gestation

(2020) Deepthi Ashokkumar et al.   DEVELOPMENT

The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology

(2020) Karl B. Shpargel et al.   DEVELOPMENT

Histone methyltransferase MLL4 controls myofiber identity and muscle performance through MEF2 interaction

(2020) Lin Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

A small UTX stabilization domain of Trr is conserved within mammalian MLL3-4/COMPASS and is sufficient to rescue loss of viability in null animals

(2020) Ryan Rickels et al.   GENES & DEVELOPMENT

Cohesin occupancy and composition at enhancers and promoters are linked to DNA replication origin proximity in Drosophila

(2019) Michelle Pherson et al.   GENOME RESEARCH

Selective binding of the PHD6 finger of MLL4 to histone H4K16ac links MLL4 and MOF

(2019) Yi Zhang et al.   Nature Communications

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome

(2019) Maria de los Angeles Serrano et al.   PLOS BIOLOGY

The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration

(2019) Janina Schwenty-Lara et al.   HUMAN MOLECULAR GENETICS

Histone H3 lysine 4 monomethylation modulates long-range chromatin interactions at enhancers

(2018) Jian Yan et al.   CELL RESEARCH

Dissecting KMT2D missense mutations in Kabuki syndrome patients

(2018) Dario Cocciadiferro et al.   HUMAN MOLECULAR GENETICS

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs

(2018) Thantrira Porntaveetus et al.   International Journal of Biological Sciences

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

(2018) Gabrielle Olley et al.   NATURE GENETICS

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

(2018) I-Chun Tsai et al.   Scientific Reports

Kabuki syndrome: international consensus diagnostic criteria

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

Mll3 and Mll4 Facilitate Enhancer RNA Synthesis and Transcription from Promoters Independently of H3K4 Monomethylation

(2017) Kristel M. Dorighi et al.   MOLECULAR CELL

A UTX-MLL4-p300 Transcriptional Regulatory Network Coordinately Shapes Active Enhancer Landscapes for Eliciting Transcription

(2017) Shu-Ping Wang et al.   MOLECULAR CELL

Histone H3K4 monomethylation catalyzed by Trr and mammalian COMPASS-like proteins at enhancers is dispensable for development and viability

(2017) Ryan Rickels et al.   NATURE GENETICS

MLL3/MLL4 are required for CBP/p300 binding on enhancers and super-enhancer formation in brown adipogenesis

(2017) Binbin Lai et al.   NUCLEIC ACIDS RESEARCH

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

Brd4 binds to active enhancers to control cell identity gene induction in adipogenesis and myogenesis

(2017) Ji-Eun Lee et al.   Nature Communications

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

(2017) Tom S. Koemans et al.   PLoS Genetics

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

(2017) Sonoko Sakata et al.   Frontiers in Genetics

KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation

(2016) Siang-Yun Ang et al.   DEVELOPMENT

The SWI/SNF BAF-A complex is essential for neural crest development

(2016) Ronald L. Chandler et al.   DEVELOPMENTAL BIOLOGY

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2

(2016) Nina Bögershausen et al.   HUMAN MUTATION

Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition

(2016) Chaochen Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

(2015) Nina Bögershausen et al.   JOURNAL OF CLINICAL INVESTIGATION

Evolving Catalytic Properties of the MLL Family SET Domain

(2015) Ying Zhang et al.   STRUCTURE

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

(2014) S. Banka et al.   CLINICAL GENETICS

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development

(2014) Ethan D. Sperry et al.   DEVELOPMENTAL DYNAMICS

An unusual presentation of Kabuki syndrome: Clinical overlap with CHARGE syndrome

(2014) Judith M.A. Verhagen et al.   European Journal of Medical Genetics

Neural crest cell-specific inactivation ofNipblorMau2during mouse development results in a late onset of craniofacial defects

(2014) Terence Gordon Smith et al.   GENESIS

CHARGE and Kabuki syndromes: a phenotypic and molecular link

(2014) Yvonne Schulz et al.   HUMAN MOLECULAR GENETICS

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

Mutations in MED12 Cause X-Linked Ohdo Syndrome

(2013) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MLL2 and KDM6A mutations in patients with Kabuki syndrome

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

MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

(2013) P Makrythanasis et al.   CLINICAL GENETICS

The histone chaperone Spt6 coordinates histone H3K27 demethylation and myogenesis

(2013) A Hongjun Wang et al.   EMBO JOURNAL

H3.3 actively marks enhancers and primes gene transcription via opening higher-ordered chromatin

(2013) P. Chen et al.   GENES & DEVELOPMENT

Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

(2013) Linda Mannini et al.   HUMAN MUTATION

The MLL3/MLL4 Branches of the COMPASS Family Function as Major Histone H3K4 Monomethylases at Enhancers

(2013) D. Hu et al.   MOLECULAR AND CELLULAR BIOLOGY

Modification of Enhancer Chromatin: What, How, and Why?

(2013) Eliezer Calo et al.   MOLECULAR CELL

EZH2andKDM6AAct as an Epigenetic Switch to Regulate Mesenchymal Stem Cell Lineage Specification

(2013) Sarah Hemming et al.   STEM CELLS

H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation

(2013) Ji-Eun Lee et al.   eLife

The COMPASS Family of Histone H3K4 Methylases: Mechanisms of Regulation in Development and Disease Pathogenesis

(2012) Ali Shilatifard   Annual Review of Biochemistry

Unmasking Kabuki syndrome

(2012) N Bögershausen et al.   CLINICAL GENETICS

Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4

(2012) S. S. Dhar et al.   GENES & DEVELOPMENT

Enhancer-associated H3K4 monomethylation by Trithorax-related, the Drosophila homolog of mammalian Mll3/Mll4

(2012) H.-M. Herz et al.   GENES & DEVELOPMENT

Histone Demethylase UTX and Chromatin Remodeler BRM Bind Directly to CBP and Modulate Acetylation of Histone H3 Lysine 27

(2012) F. Tie et al.   MOLECULAR AND CELLULAR BIOLOGY

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

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

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

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

UTX regulates mesoderm differentiation of embryonic stem cells independent of H3K27 demethylase activity

(2012) C. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner

(2012) G. G. Welstead et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C. elegans H3K27 Demethylase UTX-1 Is Essential for Normal Development, Independent of Its Enzymatic Activity

(2012) Julien Vandamme et al.   PLoS Genetics

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

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

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

(2011) Lucia Micale et al.   Orphanet Journal of Rare Diseases

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

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

A unique chromatin signature uncovers early developmental enhancers in humans

(2010) Alvaro Rada-Iglesias et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Histone H3K27ac separates active from poised enhancers and predicts developmental state

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

Dental Evaluation of Kabuki Syndrome Patients

(2009) Camila Santos Teixeira et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

New directions in craniofacial morphogenesis

(2009) Heather L. Szabo-Rogers et al.   DEVELOPMENTAL BIOLOGY

Development and tissue origins of the mammalian cranial base

(2008) B. McBratney-Owen et al.   DEVELOPMENTAL BIOLOGY