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。Postnatal expression of the lysine methyltransferase SETD1B is essential for learning and the regulation of neuron-enriched genes
Alexandra Michurina et al.
EMBO JOURNAL (2022)
ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder
Yuze Yan et al.
NEURON (2022)
De novo variant of SETD1A causes neurodevelopmental disorder with dysmorphic facies: A case report
Jia Zhang et al.
PSYCHIATRY AND CLINICAL NEUROSCIENCES (2022)
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Francesca Di Candia et al.
EUROPEAN JOURNAL OF PEDIATRICS (2022)
Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience
Elmas Muhsin et al.
JOURNAL OF MOLECULAR NEUROSCIENCE (2022)
Counteracting epigenetic mechanisms regulate the structural development of neuronal circuitry in human neurons
Seonhye Cheon et al.
MOLECULAR PSYCHIATRY (2022)
Rare coding variants in ten genes confer substantial risk for schizophrenia
Tarjinder Singh et al.
NATURE (2022)
Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through the cAMP/PKA pathway
Shan Wang et al.
CELL REPORTS (2022)
Neural Hyperactivity Is a Core Pathophysiological Change Induced by Deletion of a High Autism Risk Gene Ash1L in the Mouse Brain
Yuen Gao et al.
FRONTIERS IN BEHAVIORAL NEUROSCIENCE (2022)
KMT2A: Umbrella Gene for Multiple Diseases
Silvia Castiglioni et al.
GENES (2022)
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype
Esra Usluer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature
Luisa Cortellazzo Wiel et al.
ITALIAN JOURNAL OF PEDIATRICS (2022)
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling et al.
MOLECULAR PSYCHIATRY (2021)
SETD1B-associated neurodevelopmental disorder
Alexandra Roston et al.
JOURNAL OF MEDICAL GENETICS (2021)
JARID2haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome
Eline A. Verberne et al.
GENETICS IN MEDICINE (2021)
Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors
Yuen Gao et al.
COMMUNICATIONS BIOLOGY (2021)
Histone H3K4 Methyltransferases as Targets for Drug-Resistant Cancers
Liu Yang et al.
BIOLOGY-BASEL (2021)
Role of Ash1l in Tourette syndrome and other neurodevelopmental disorders
Cheng Zhang et al.
DEVELOPMENTAL NEUROBIOLOGY (2021)
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation
Fabiola Quintero-Rivera et al.
HUMAN GENETICS (2021)
JARID2 and AEBP2 regulate PRC2 in the presence of H2AK119ub1 and other histone modifications
Vignesh Kasinath et al.
SCIENCE (2021)
Abnormal neocortex arealization and Sotos-like syndrome-associated behavior in Setd2 mutant mice
Lichao Xu et al.
SCIENCE ADVANCES (2021)
Vorinostat, a histone deacetylase inhibitor, ameliorates the sociability and cognitive memory in an Ash1L-deletion-induced ASD/ID mouse model
Yuen Gao et al.
NEUROSCIENCE LETTERS (2021)
NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases
Sangeetha Yoganathan et al.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2021)
Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals
Agatino Battaglia et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Sarah E. Sheppard et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders
Meilin Chen et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2021)
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Paolo Zanoni et al.
GENETICS IN MEDICINE (2021)
UCSC Cell Browser: visualize your single-cell data
Matthew L. Speir et al.
BIOINFORMATICS (2021)
Neuronal SETD2 activity links microtubule methylation to an anxiety-like phenotype in mice
Matthias Koenning et al.
BRAIN (2021)
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Marjolein J. A. Weerts et al.
GENETICS IN MEDICINE (2021)
α-TubK40me3 is required for neuronal polarization and migration by promoting microtubule formation
Xuan Xie et al.
NATURE COMMUNICATIONS (2021)
Seizures in Sotos syndrome: Phenotyping in 49 patients
Olivier Fortin et al.
EPILEPSIA OPEN (2021)
Mutations in ASH1L confer susceptibility to Tourette syndrome
Shiguo Liu et al.
MOLECULAR PSYCHIATRY (2020)
DNMT3A reads and connects histone H3K36me2 to DNA methylation
Wenqi Xu et al.
PROTEIN & CELL (2020)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
Neuronal Excitability in Epileptogenic Zones Regulated by the Wnt/B-Catenin Pathway
Carmen Rubio et al.
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS (2020)
Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1
Sabrina Oishi et al.
GENES BRAIN AND BEHAVIOR (2020)
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
Monica Frega et al.
CELL REPORTS (2020)
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Shan Tang et al.
EPILEPSIA (2020)
Genotype-phenotype correlation at codon 1740 ofSETD2
Rachel Rabin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Overexpression ofH3K36methyltransferaseNSDin glial cells affects brain development inDrosophila
Taejoon Kim et al.
GLIA (2020)
A Multiplex Human Pluripotent Stem Cell Platform Defines Molecular and Functional Subclasses of Autism-Related Genes
Gustav Y. Cederquist et al.
CELL STEM CELL (2020)
SETD5Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
Milena Crippa et al.
FRONTIERS IN NEUROLOGY (2020)
Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation
Christina N. Vallianatos et al.
COMMUNICATIONS BIOLOGY (2020)
High-throughput single-cell functional elucidation of neurodevelopmental disease-associated genes reveals convergent mechanisms altering neuronal differentiation
Matthew A. Lalli et al.
GENOME RESEARCH (2020)
NSD1-deposited H3K36me2 directs de novo methylation in the mouse male germline and counteracts Polycomb-associated silencing
Kenjiro Shirane et al.
NATURE GENETICS (2020)
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Tianyun Wang et al.
NATURE COMMUNICATIONS (2020)
Setd1a Insufficiency in Mice Attenuates Excitatory Synaptic Function and Recapitulates Schizophrenia-Related Behavioral Abnormalities
Kenichiro Nagahama et al.
CELL REPORTS (2020)
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Francesca Jean et al.
FRONTIERS IN NEUROLOGY (2020)
The Huntingtin-interacting protein SETD2/HYPB is an actin lysine methyltransferase
Riyad N. H. Seervai et al.
SCIENCE ADVANCES (2020)
Cross-talk between CDK4/6 and SMYD2 regulates gene transcription, tubulin methylation, and ciliogenesis
Linda Xiaoyan Li et al.
SCIENCE ADVANCES (2020)
Histone Variants and Histone Modifications in Neurogenesis
Mengtian Zhang et al.
TRENDS IN CELL BIOLOGY (2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Laura Cif et al.
BRAIN (2020)
The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression
Tadashi Nakagawa et al.
ISCIENCE (2020)
De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder
Wei Shen et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
A novel de novo frameshift variant in SETD1B causes epilepsy
Kouhei Den et al.
JOURNAL OF HUMAN GENETICS (2019)
Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants
Ada J. S. Chan et al.
NPJ GENOMIC MEDICINE (2019)
Roles and regulation of histone methylation in animal development
Ashwini Jambhekar et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2019)
De Novo and Inherited SETD1A Variants in Early-onset Epilepsy
Xiuya Yu et al.
NEUROSCIENCE BULLETIN (2019)
H3K36 Methylation and the Chromodomain Protein Eaf3 Are Required for Proper Cotranscriptional Spliceosome Assembly
Calvin S. Leung et al.
CELL REPORTS (2019)
PRC2 functions in development and congenital disorders
Orla Deevy et al.
DEVELOPMENT (2019)
New insights into the development of the human cerebral cortex
Zoltan Molnar et al.
JOURNAL OF ANATOMY (2019)
Human cerebral cortex development
Zoltan Molnar et al.
JOURNAL OF ANATOMY (2019)
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
Daniel N. Weinberg et al.
NATURE (2019)
SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring
Alessandro Sessa et al.
NEURON (2019)
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
Pauline Marzin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes
Sharri Cyrus et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants
F. Kyle Satterstrom et al.
NATURE NEUROSCIENCE (2019)
Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice
Jun Mukai et al.
NEURON (2019)
Regulation of temporal properties of neural stem cells and transition timing of neurogenesis and gliogenesis during mammalian neocortical development
Toshiyuki Ohtsuka et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2019)
Histone H3 lysine K4 methylation and its role in learning and memory
Bridget E. Collins et al.
EPIGENETICS & CHROMATIN (2019)
Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice
Spencer M. Moore et al.
TRANSLATIONAL PSYCHIATRY (2019)
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome
Sara Griffiths et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome
Giovanni A. Carosso et al.
JCI INSIGHT (2019)
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences
Takuya Hiraide et al.
EPILEPSIA OPEN (2019)
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome
Elizabeth S. Barrie et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2019)
Perspectives on Neuroscience and Behavior
[Anonymous]
NEUROSCIENTIST (2018)
Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder
Tianjin Shen et al.
NUCLEIC ACIDS RESEARCH (2018)
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Victor Faundes et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome
Maartje C. van Rij et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Z. Powis et al.
CLINICAL GENETICS (2018)
Novel SUZ12 mutations in Weaver-like syndrome
Eri Imagawa et al.
CLINICAL GENETICS (2018)
Genetic variations on SETD5 underlying autistic conditions
Isabella R. Fernandes et al.
DEVELOPMENTAL NEUROBIOLOGY (2018)
The H3K36me2 Methyltransferase Nsd1 Demarcates PRC2-Mediated H3K27me2 and H3K27me3 Domains in Embryonic Stem Cells
Gundula Streubel et al.
MOLECULAR CELL (2018)
Histone Methylation by SETD1A Protects Nascent DNA through the Nucleosome Chaperone Activity of FANCD2
Martin R. Higgs et al.
MOLECULAR CELL (2018)
Methylation of Aurora kinase A by MMSET reduces p53 stability and regulates cell proliferation and apoptosis
Jin Woo Park et al.
ONCOGENE (2018)
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease
Toshitaka Kawarai et al.
PARKINSONISM & RELATED DISORDERS (2018)
Depletion of Nsd2-mediated histone H3K36 methylation impairs adipose tissue development and function
Lenan Zhuang et al.
NATURE COMMUNICATIONS (2018)
Association between H3K4 methylation and cancer prognosis: A meta-analysis
Simin Li et al.
THORACIC CANCER (2018)
Small 4p16.3 deletions: Three additional patients and review of the literature
Laura Bernardini et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)
Nicole J. Boczek et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
Elena Deliu et al.
NATURE NEUROSCIENCE (2018)
KMT2B Is Selectively Required for Neuronal Transdifferentiation, and Its Loss Exposes Dystonia Candidate Genes
Giulia Barbagiovanni et al.
CELL REPORTS (2018)
Polycomb Repressive Complex 2: Emerging Roles in the Central Nervous System
Pei-Pei Liu et al.
NEUROSCIENTIST (2018)
Novel EED mutation in patient with Weaver syndrome
Erin Cooney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
Daniel Trujillano et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer et al.
NATURE GENETICS (2017)
Neural progenitor cells and their role in the development and evolutionary expansion of the neocortex
Takashi Namba et al.
WILEY INTERDISCIPLINARY REVIEWS-DEVELOPMENTAL BIOLOGY (2017)
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
Nara Sobreira et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome
Eri Imagawa et al.
HUMAN MUTATION (2017)
Histone Lysine Methylation and Neurodevelopmental Disorders
Jeong-Hoon Kim et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Histone chaperone HIRA regulates neural progenitor cell proliferation and neurogenesis via β-catenin
Yanxin Li et al.
JOURNAL OF CELL BIOLOGY (2017)
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice
Matthew C. Judson et al.
JOURNAL OF NEUROSCIENCE (2017)
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly A. F. Stessman et al.
NATURE GENETICS (2017)
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen et al.
NATURE NEUROSCIENCE (2017)
Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities
Victor Faundes et al.
REVISTA MEDICA DE CHILE (2017)
Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex
Tomasz J. Nowakowski et al.
SCIENCE (2017)
Histone Marks in the 'Driver's Seat': Functional Roles in Steering the Transcription Cycle
Leah A. Gates et al.
TRENDS IN BIOCHEMICAL SCIENCES (2017)
KMT2A and KMT2B Mediate Memory Function by Affecting Distinct Genomic Regions
Cemil Kerimoglu et al.
CELL REPORTS (2017)
Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development
Elena Campos-Sanchez et al.
CELL REPORTS (2017)
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
Tom S. Koemans et al.
PLOS GENETICS (2017)
The Histone H3K27 Demethylase UTX Regulates Synaptic Plasticity and Cognitive Behaviors in Mice
Gang-Bin Tang et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2017)
MiR-203 Interplays with Polycomb Repressive Complexes to Regulate the Proliferation of Neural Stem/Progenitor Cells
Pei-Pei Liu et al.
STEM CELL REPORTS (2017)
Wolf- Hirschhorn Syndrome Candidate 1 (whsc1) Functions as a Tumor Suppressor by Governing Cell Differentiation
Chuan Yu et al.
NEOPLASIA (2017)
Genome Regulation by Polycomb and Trithorax: 70 Years and Counting
Bernd Schuettengruber et al.
CELL (2017)
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations
N. Lehman et al.
CLINICAL GENETICS (2017)
Novel MCA/ID syndrome with ASH1L mutation
Nobuhiko Okamoto et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia
Lettie E. Rawlins et al.
CLINICAL DYSMORPHOLOGY (2017)
Characteristics of Autism Spectrum Disorder in Sotos Syndrome
Chloe Lane et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2017)
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Michael Zech et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
SETD5 Loss-of-Function Mutation as a Likely Cause of a Familial Syndromic Intellectual Disability with Variable Phenotypic Expression
Krzysztof Szczaluba et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Dual Chromatin and Cytoskeletal Remodeling by SETD2
In Young Park et al.
CELL (2016)
Cellular and molecular mechanisms regulating neuronal growth by brain-derived neurotrophic factor
Andres Gonzalez et al.
CYTOSKELETON (2016)
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
Jonathan D. J. Labonne et al.
HUMAN GENETICS (2016)
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh et al.
NATURE NEUROSCIENCE (2016)
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
Stefan H. Lelieveld et al.
NATURE NEUROSCIENCE (2016)
Transformation of the Radial Glia Scaffold Demarcates Two Stages of Human Cerebral Cortex Development
Tomasz J. Nowakowski et al.
NEURON (2016)
Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population
Jun Li et al.
NEUROSCIENCE LETTERS (2016)
MRG15 is required for pre-mRNA splicing and spermatogenesis
Naoki Iwamori et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
Epigenetic balance of gene expression by Polycomb and COMPASS families
Andrea Piunti et al.
SCIENCE (2016)
De novo genic mutations among a Chinese autism spectrum disorder cohort
Tianyun Wang et al.
NATURE COMMUNICATIONS (2016)
A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces
Gareth Baynam et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Glia in mammalian development and disease
J. Bradley Zuchero et al.
DEVELOPMENT (2015)
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
Kristiina Tammimies et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
Neuronal Kmt2a/Mll1 Histone Methyltransferase Is Essential for Prefrontal Synaptic Plasticity and Working Memory
Mira Jakovcevski et al.
JOURNAL OF NEUROSCIENCE (2015)
Low load for disruptive mutations in autism genes and their biased transmission
Ivan Iossifov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis
Roberto Sacco et al.
PSYCHIATRY RESEARCH-NEUROIMAGING (2015)
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Jason Homsy et al.
SCIENCE (2015)
Megalencephaly and Macrocephaly
Kellen D. Winden et al.
SEMINARS IN NEUROLOGY (2015)
Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders
Christina N. Vallianatos et al.
EPIGENOMICS (2015)
Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features
Mariam Almuriekhi et al.
CELL REPORTS (2015)
Microdeletion of 12q24.31: Report of a Girl With Intellectual Disability, Stereotypies, Seizures and Facial Dysmorphisms
Orazio Palumbo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
The roles and regulation of Polycomb complexes in neural development
Matthew Corley et al.
CELL AND TISSUE RESEARCH (2015)
The Epigenetic Factor Kmt2a/Mll1 Regulates Neural Progenitor Proliferation and Neuronal and Glial Differentiation
Yin-Cheng Huang et al.
DEVELOPMENTAL NEUROBIOLOGY (2015)
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Alma Kuechler et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Large-scale discovery of novel genetic causes of developmental disorders
T. W. Fitzgerald et al.
NATURE (2015)
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy
Heidi S. Lumish et al.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2015)
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
Detelina Grozeva et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Genetic disorders associated with postnatal microcephaly
Laurie E. Seltzer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)
Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology
Ghayda M. Mirzaa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2014)
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P. Strom et al.
BMC MEDICAL GENETICS (2014)
UTX and MLL4 Coordinately Regulate Transcriptional Programs for Cell Proliferation and Invasiveness in Breast Cancer Cells
Jae-Hwan Kim et al.
CANCER RESEARCH (2014)
Chromatin dynamics: H3K4 methylation and H3 variant replacement during development and in cancer
Moonmoon Deb et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
Mll2 is required for H3K4 trimethylation on bivalent promoters in embryonic stem cells, whereas Mll1 is redundant
Sergei Denissov et al.
DEVELOPMENT (2014)
The H3K4 methyltransferase Setd1a is first required at the epiblast stage, whereas Setd1b becomes essential after gastrulation
Anita S. Bledau et al.
DEVELOPMENT (2014)
Trithorax monomethylates histone H3K4 and interacts directly with CBP to promote H3K27 acetylation and antagonize Polycomb silencing
Feng Tie et al.
DEVELOPMENT (2014)
Coordinated Regulation of Dendrite Arborization by Epigenetic Factors CDYL and EZH2
Cai Qi et al.
JOURNAL OF NEUROSCIENCE (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome
Hans T. Bjornsson et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
An RNA polymerase II-coupled function for histone H3K36 methylation in checkpoint activation and DSB repair
Deepak Kumar Jha et al.
NATURE COMMUNICATIONS (2014)
SETD2-Dependent Histone H3K36 Trimethylation Is Required for Homologous Recombination Repair and Genome Stability
Sophia X. Pfister et al.
CELL REPORTS (2014)
The Phenotypic Spectrum of Duplication 5q35.2-q35.3 Encompassing NSD1: Is It Really a Reversed Sotos Syndrome?
Nicola Dikow et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Deletion of 3p25.3 in a Patient With Intellectual Disability and Dysmorphic Features With Further Definition of a Critical Region
Gregory Kellogg et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype
Katrina Tatton-Brown et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Genome-wide Chromatin State Transitions Associated with Developmental and Environmental Cues
Jiang Zhu et al.
CELL (2013)
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
A. Jeremy Willsey et al.
CELL (2013)
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)
Histone H3K27 Trimethylation Inhibits H3 Binding and Function of SET1-Like H3K4 Methyltransferase Complexes
Dae-Hwan Kim et al.
MOLECULAR AND CELLULAR BIOLOGY (2013)
An H3K36 Methylation-Engaging Tudor Motif of Polycomb-like Proteins Mediates PRC2 Complex Targeting
Ling Cai et al.
MOLECULAR CELL (2013)
Phenomenology and classification of dystonia: A consensus update
Alberto Albanese et al.
MOVEMENT DISORDERS (2013)
Transcriptional regulation by Polycomb group proteins
Luciano Di Croce et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
Christianson Syndrome Protein NHE6 Modulates TrkB Endosomal Signaling Required for Neuronal Circuit Development
Qing Ouyang et al.
NEURON (2013)
Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder
Eriko Koshimizu et al.
PLOS ONE (2013)
Ezh2 Orchestrates Topographic Migration and Connectivity of Mouse Precerebellar Neurons
Thomas Di Meglio et al.
SCIENCE (2013)
H3K4 mono- and di-methyltransferase MLL4 is required for enhancer activation during cell differentiation
Ji-Eun Lee et al.
ELIFE (2013)
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Wendy D. Jones et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Tjitske Kleefstra et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Recruitment and Biological Consequences of Histone Modification of H3K27me3 and H3K9me3
Joomyeong Kim et al.
ILAR JOURNAL (2012)
Directional Neuronal Migration Is Impaired in Mice Lacking Adenomatous Polyposis Coli 2
Takafumi Shintani et al.
JOURNAL OF NEUROSCIENCE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
Understanding the language of Lys36 methylation at histone H3
Eric J. Wagner et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Martin Breuss et al.
CELL REPORTS (2012)
REST-Mediated Recruitment of Polycomb Repressor Complexes in Mammalian Cells
Nikolaj Dietrich et al.
PLOS GENETICS (2012)
Psip1/Ledgf p52 Binds Methylated Histone H3K36 and Splicing Factors and Contributes to the Regulation of Alternative Splicing
Madapura M. Pradeepa et al.
PLOS GENETICS (2012)
Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder
Paula S. Ramos et al.
MOLECULAR AUTISM (2012)
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
J. A. Rosenfeld et al.
MOLECULAR SYNDROMOLOGY (2012)
Development and Evolution of the Human Neocortex
Jan H. Lui et al.
CELL (2011)
The Wnt/beta-catenin signaling pathway in the adult neurogenesis
Lin Zhang et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2011)
H3K36 Methylation Antagonizes PRC2-mediated H3K27 Methylation
Wen Yuan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Deletion of 14-3-3ε and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy
Jeffrey R. Tenney et al.
JOURNAL OF CHILD NEUROLOGY (2011)
Oblique Radial Glial Divisions in the Developing Mouse Neocortex Induce Self-Renewing Progenitors outside the Germinal Zone That Resemble Primate Outer Subventricular Zone Progenitors
Atsunori Shitamukai et al.
JOURNAL OF NEUROSCIENCE (2011)
Dual Function of Histone H3 Lysine 36 Methyltransferase ASH1 in Regulation of Hox Gene Expression
Yujiro Tanaka et al.
PLOS ONE (2011)
Functional characterization of the zebrafish WHSC1-related gene, a homolog of human NSD2
Toshiko Yamada-Okabe et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
Luis M. Franco et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Renewed focus on the developing human neocortex
Gavin Clowry et al.
JOURNAL OF ANATOMY (2010)
Changes in Prefrontal Axons May Disrupt the Network in Autism
Basilis Zikopoulos et al.
JOURNAL OF NEUROSCIENCE (2010)
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Timothy W. Yu et al.
NATURE GENETICS (2010)
A common mechanism for microcephaly
Bernd Wollnik
NATURE GENETICS (2010)
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
Agda Karina Lucio-Eterovic et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex
Joao D. Pereira et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Epigenetic control of inducible gene expression in the immune system
Pek Siew Lim et al.
EPIGENOMICS (2010)
Role of H3K4 demethylases in complex neurodevelopmental diseases
Christopher Wynder et al.
EPIGENOMICS (2010)
A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
E. Baple et al.
MOLECULAR SYNDROMOLOGY (2010)
The Target of the NSD Family of Histone Lysine Methyltransferases Depends on the Nature of the Substrate
Yan Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Widespread Changes in Dendritic and Axonal Morphology in Mecp2-Mutant Mouse Models of Rett Syndrome: Evidence for Disruption of Neuronal Networks
Pavel V. Belichenko et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2009)
APC2 Plays an Essential Role in Axonal Projections through the Regulation of Microtubule Stability
Takafumi Shintani et al.
JOURNAL OF NEUROSCIENCE (2009)
Global Analysis of H3K4 Methylation Defines MLL Family Member Targets and Points to a Role for MLL1-Mediated H3K4 Methylation in the Regulation of Transcriptional Initiation by RNA Polymerase II
Pengfei Wang et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Chromatin remodelling factor Mll1 is essential for neurogenesis from postnatal neural stem cells
Daniel A. Lim et al.
NATURE (2009)
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss et al.
NATURE (2009)
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome
Keisuke Nimura et al.
NATURE (2009)
Evolution of the neocortex: a perspective from developmental biology
Pasko Rakic
NATURE REVIEWS NEUROSCIENCE (2009)
Polycomb Limits the Neurogenic Competence of Neural Precursor Cells to Promote Astrogenic Fate Transition
Yusuke Hirabayashi et al.
NEURON (2009)
Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis
Matthew B. Johnson et al.
NEURON (2009)
Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation
Ali Shilatifard
CURRENT OPINION IN CELL BIOLOGY (2008)
Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation
John W. Edmunds et al.
EMBO JOURNAL (2008)
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology
Scott V. Dindot et al.
HUMAN MOLECULAR GENETICS (2008)
Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes
Jeong-Heon Lee et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Mammalian ASH1L is a histone methyl transferase that occupies the transcribed region of active genes
Gregory D. Gregory et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Joseph D. Buxbaum et al.
BMC MEDICAL GENETICS (2007)
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome
Pascale Saugier-Veber et al.
HUMAN MUTATION (2007)
UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development
Karl Agger et al.
NATURE (2007)
Trithorax-group protein ASH1 methylates histone H3 lysine 36
Yujro Tanaka et al.
GENE (2007)
NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis
Gang G. Wang et al.
NATURE CELL BIOLOGY (2007)
Increased apoptosis and skewed differentiation in mouse embryonic stem cells lacking the histone methyltransferase Mll2
Sandra Lubitz et al.
MOLECULAR BIOLOGY OF THE CELL (2007)
High-resolution profiling of histone methylations in the human genome
Artern Barski et al.
CELL (2007)
Identification and characterization of the human Set1B histone H3-Lys4 methyltransferase complex
Jeong-Heon Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Mutations in α-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans
David A. Keays et al.
CELL (2007)
What primary microcephaly can tell us about brain growth
James Cox et al.
TRENDS IN MOLECULAR MEDICINE (2006)
Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
Chih-Ping Chen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Pten regulates neuronal arborization and social interaction in mice
Chang-Hyuk Kwon et al.
NEURON (2006)
Control of dendritic arborization by the phosphoinositide-3'-kinase-Akt-mammalian target of rapamycin pathway
J Jaworski et al.
JOURNAL OF NEUROSCIENCE (2005)
ASPM mutations identified in patients with primary microcephaly and seizures
J Shen et al.
JOURNAL OF MEDICAL GENETICS (2005)
NSD1 mutations in Sotos syndrome
F Faravelli
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2005)
Spatial distribution of di- and tri-methyl lysine 36 of histone H3 at active genes
AJ Bannister et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth
M Cecconi et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size
J Bond et al.
NATURE GENETICS (2005)
A novel domain in Set2 mediates RNA polymerase II interaction and couples histone H3K36 methylation with transcript elongation
KO Kizer et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
The etiology of Wolf-Hirschhorn syndrome
AD Bergemann et al.
TRENDS IN GENETICS (2005)
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats
N Kurotaki et al.
HUMAN MOLECULAR GENETICS (2005)
Macrocephaly and the control of brain growth in autistic disorders
P McCaffery et al.
PROGRESS IN NEUROBIOLOGY (2005)
Epilepsy in Wolf-Hirschhorn syndrome (4p-)
K Kagitani-Shimono et al.
EPILEPSIA (2005)
Neurons arise in the basal neuroepithelium of the early mammalian telencephalon: A major site of neurogenesis
W Haubensak et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Brain-derived neurotrophic factor induces mammalian target of rapamycin-dependent local activation of translation machinery and protein synthesis in neuronal dendrites
N Takei et al.
JOURNAL OF NEUROSCIENCE (2004)
The Wnt/β-catenin pathway directs neuronal differentiation of cortical neural precursor cells
Y Hirabayashi et al.
DEVELOPMENT (2004)
Increased brain size and glial cell number in CD81-null mice
EE Geisert et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2002)
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
A Chenn et al.
SCIENCE (2002)
Identification of microcephalin, a protein implicated in determining the size of the human brain
AP Jackson et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Dividing precursor cells of the embryonic cortical ventricular zone have morphological and molecular characteristics of radial glia
SC Noctor et al.
JOURNAL OF NEUROSCIENCE (2002)
Haploinsufficiency of NSD1 causes Sotos syndrome
N Kurotaki et al.
NATURE GENETICS (2002)
Mouse models for the Wolf-Hirschhorn deletion syndrome
D Näf et al.
HUMAN MOLECULAR GENETICS (2001)
Functional interaction between the coactivator Drosophila CREB-binding protein and ASH1, a member of the trithorax group of chromatin modifiers
F Bantignies et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Prediction of the coding sequences of unidentified human genes.: XVII.: The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
T Nagase et al.
DNA RESEARCH (2000)
Adenomatous polyposis coli (APC) protein moves along microtubules and concentrates at their growing ends in epithelial cells
Y Mimori-Kiyosue et al.
JOURNAL OF CELL BIOLOGY (2000)
Macrocephaly - cutis marmorata telangiectatica congenita: report of five patients and a review of the literature
SP Robertson et al.
CLINICAL DYSMORPHOLOGY (2000)
分享论文
