4.7 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Anatomy & Morphology

Extracellular Matrix in Secondary Palate Development

Shaun M Logan et al.

ANATOMICAL RECORD-ADVANCES IN INTEGRATIVE ANATOMY AND EVOLUTIONARY BIOLOGY (2020)

Article Biochemistry & Molecular Biology

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

Janina Schwenty-Lara et al.

HUMAN MOLECULAR GENETICS (2020)

Review Developmental Biology

A tale of two cities: The genetic mechanisms governing calvarial bone development

James W. Ferguson et al.

GENESIS (2019)

Article Genetics & Heredity

Kabuki syndrome: international consensus diagnostic criteria

Margaret P. Adam et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Biochemistry & Molecular Biology

H3.3K4M destabilizes enhancer H3K4 methyltransferases MLL3/MLL4 and impairs adipose tissue development

Younghoon Jang et al.

NUCLEIC ACIDS RESEARCH (2019)

Article Medicine, Research & Experimental

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome

Giovanni A. Carosso et al.

JCI INSIGHT (2019)

Article Medicine, Research & Experimental

Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice

Jill A. Fahrner et al.

JCI INSIGHT (2019)

Article Biochemistry & Molecular Biology

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro et al.

HUMAN MOLECULAR GENETICS (2018)

Article Biochemistry & Molecular Biology

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

Thantrira Porntaveetus et al.

INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES (2018)

Article Anthropology

Basicranium and face: Assessing the impact of morphological integration on primate evolution

Dimitri Neaux et al.

JOURNAL OF HUMAN EVOLUTION (2018)

Review Genetics & Heredity

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes

C. Lintas et al.

CLINICAL GENETICS (2018)

Article Dentistry, Oral Surgery & Medicine

Identification of Osr2 Transcriptional Target Genes in Palate Development

X. Fu et al.

JOURNAL OF DENTAL RESEARCH (2017)

Article Biochemistry & Molecular Biology

Systematic Analysis of Known and Candidate Lysine Demethylases in the Regulation of Myoblast Differentiation

Yoichi Munehira et al.

JOURNAL OF MOLECULAR BIOLOGY (2017)

Article Multidisciplinary Sciences

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

Karl B. Shpargel et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)

Article Multidisciplinary Sciences

Gene bivalency at Polycomb domains regulates cranial neural crest positional identity

Maryline Minoux et al.

SCIENCE (2017)

Article Developmental Biology

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

Ronald L. Chandler et al.

DEVELOPMENTAL BIOLOGY (2016)

Article Multidisciplinary Sciences

Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition

Chaochen Wang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Article Biochemistry & Molecular Biology

Loss of lysyl oxidase-like 3 causes cleft palate and spinal deformity in mice

Jian Zhang et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development

Peter M. Van Laarhoven et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biochemistry & Molecular Biology

Epigenetic Control of the Bone-master Runx2 Gene during Osteoblast-lineage Commitment by the Histone Demethylase JARID1B/KDM5B

Adriana Rojas et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2015)

Article Medicine, Research & Experimental

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Nina Boegershausen et al.

JOURNAL OF CLINICAL INVESTIGATION (2015)

Article Cell Biology

JMJD3 promotes chondrocyte proliferation and hypertrophy during endochondral bone formation in mice

Feng Zhang et al.

JOURNAL OF MOLECULAR CELL BIOLOGY (2015)

Article Biochemical Research Methods

HTSeq-a Python framework to work with high-throughput sequencing data

Simon Anders et al.

BIOINFORMATICS (2015)

Article Genetics & Heredity

A Three Generation X-Linked Family With Kabuki Syndrome Phenotype and a Frameshift Mutation in KDM6A

Damien Lederer et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Review Developmental Biology

Epigenetic regulation in neural crest development

Na Hu et al.

DEVELOPMENTAL BIOLOGY (2014)

Article Genetics & Heredity

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

Judith M. A. Verhagen et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)

Article Biochemistry & Molecular Biology

CHARGE and Kabuki syndromes: a phenotypic and molecular link

Yvonne Schulz et al.

HUMAN MOLECULAR GENETICS (2014)

Article Endocrinology & Metabolism

Runx2 Regulates Endochondral Ossification Through Control of Chondrocyte Proliferation and Differentiation

Haiyan Chen et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2014)

Article Genetics & Heredity

MLL2 and KDM6A Mutations in Patients With Kabuki Syndrome

Noriko Miyake et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)

Article Genetics & Heredity

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

P. Makrythanasis et al.

CLINICAL GENETICS (2013)

Review Genetics & Heredity

Genetic syndromes caused by mutations in epigenetic genes

Maria Berdasco et al.

HUMAN GENETICS (2013)

Article Biochemistry & Molecular Biology

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

Deqing Hu et al.

MOLECULAR AND CELLULAR BIOLOGY (2013)

Article Multidisciplinary Sciences

Brg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell development

Wei Li et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Cell Biology

Signals and Switches in Mammalian Neural Crest Cell Differentiation

Shachi Bhatt et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2013)

Article Biotechnology & Applied Microbiology

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

Daehwan Kim et al.

GENOME BIOLOGY (2013)

Article Genetics & Heredity

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

Damien Lederer et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Cell & Tissue Engineering

Epigenomic Annotation of Enhancers Predicts Transcriptional Regulators of Human Neural Crest

Alvaro Rada-Iglesias et al.

CELL STEM CELL (2012)

Review Developmental Biology

Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development

Jeffrey O. Bush et al.

DEVELOPMENT (2012)

Article Developmental Biology

Temporal control of neural crest lineage generation by Wnt/β-catenin signaling

Lisette Hari et al.

DEVELOPMENT (2012)

Article Anatomy & Morphology

Epigenetic landscape and miRNA involvement during neural crest development

Pablo H. Strobl-Mazzulla et al.

DEVELOPMENTAL DYNAMICS (2012)

Article Genetics & Heredity

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

Gijs W. E. Santen et al.

NATURE GENETICS (2012)

Article Genetics & Heredity

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

Yoshinori Tsurusaki et al.

NATURE GENETICS (2012)

Article Multidisciplinary Sciences

DNA Methyltransferase 3b Is Dispensable for Mouse Neural Crest Development

Bridget T. Jacques-Fricke et al.

PLOS ONE (2012)

Article Genetics & Heredity

Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome

Mark C. Hannibal et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Genetics & Heredity

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale et al.

ORPHANET JOURNAL OF RARE DISEASES (2011)

Article Biochemical Research Methods

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

Mark D. Robinson et al.

BIOINFORMATICS (2010)

Review Developmental Biology

New directions in craniofacial morphogenesis

Heather L. Szabo-Rogers et al.

DEVELOPMENTAL BIOLOGY (2010)

Article Anatomy & Morphology

Mesenchymal Cell Remodeling During Mouse Secondary Palate Reorientation

Jiu-Zhen Jin et al.

DEVELOPMENTAL DYNAMICS (2010)

Article Multidisciplinary Sciences

CHD7 cooperates with PBAF to control multipotent neural crest formation

Ruchi Bajpai et al.

NATURE (2010)

Article Genetics & Heredity

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Sarah B. Ng et al.

NATURE GENETICS (2010)

Article Biotechnology & Applied Microbiology

Differential expression analysis for sequence count data

Simon Anders et al.

GENOME BIOLOGY (2010)

Article Developmental Biology

Development and tissue origins of the mammalian cranial base

B. McBratney-Owen et al.

DEVELOPMENTAL BIOLOGY (2008)

Article Medicine, Research & Experimental

Persistent expression of Pax3 in the neural crest causes cleft palate and defective osteogenesis in mice

Meilin Wu et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

Article Developmental Biology

Cell lineage in mammalian craniofacial mesenchyme

Toshiyuki Yoshida et al.

MECHANISMS OF DEVELOPMENT (2008)

Article Multidisciplinary Sciences

Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases

SunHwa Hong et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Multidisciplinary Sciences

A histone H3 lysine 27 demethylase regulates animal posterior development

Fei Lan et al.

NATURE (2007)

Letter Allergy

Complete DiGeorge syndrome associated with CHD7 mutation

Madhurima Sanka et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)

Article Developmental Biology

Regulation of skeletogenic differentiation in cranial dermal bone

Arhat Abzhanov et al.

DEVELOPMENT (2007)

Article Biochemistry & Molecular Biology

PTIP associates with MLL3-and MLL4-containing histone H3 lysine 4 methyltransferase complex

Young-Wook Cho et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

Bmp2 transcription in osteoblast progenitors is regulated by a distant 3′ enhancer located 156.3 kilobases from the promoter

Ronald L. Chandler et al.

MOLECULAR AND CELLULAR BIOLOGY (2007)

Article Multidisciplinary Sciences

Dominance of SOX9 function over RUNX2 during skeletogenesis

Guang Zhou et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Review Cell Biology

Specification of neural crest cell formation and migration in mouse embryos

PA Trainor

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2005)

Article Multidisciplinary Sciences

Osteo-chondroprogenitor cells are derived from Sox9 expressing precursors

H Akiyama et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Multidisciplinary Sciences

Neural crest origins of the neck and shoulder

T Matsuoka et al.

NATURE (2005)

Article Genetics & Heredity

Genetic heterogeneity in Rubinstein-Taybi syndrome:: Mutations in both the CBP and EP300 genes cause disease

JH Roelfsema et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Genetics & Heredity

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

LELM Vissers et al.

NATURE GENETICS (2004)

Review Neurosciences

Cranial neural crest and the building of the vertebrate head

F Santagati et al.

NATURE REVIEWS NEUROSCIENCE (2003)

Article Developmental Biology

Tissue origins and interactions in the mammalian skull vault

XB Jiang et al.

DEVELOPMENTAL BIOLOGY (2002)

Article Anthropology

Basicranial influence on overall cranial shape

DE Lieberman et al.

JOURNAL OF HUMAN EVOLUTION (2000)