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。The methyltransferase SETD2 couples transcription and splicing by engaging mRNA processing factors through its SHI domain
Saikat Bhattacharya et al.
NATURE COMMUNICATIONS (2021)
Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development
Shaun Hurley et al.
MOLECULAR AUTISM (2021)
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A. Gillentine et al.
GENOME MEDICINE (2021)
Chd8 regulates X chromosome inactivation in mouse through fine-tuning control of Xist expression
Andrea Cerase et al.
COMMUNICATIONS BIOLOGY (2021)
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom et al.
CELL (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation
Sabina Sood et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Guide for protein fold change and p-value calculation for non-experts in proteomics
Jennifer T. Aguilan et al.
MOLECULAR OMICS (2020)
Mediator complex interaction partners organize the transcriptional network that defines neural stem cells
Marti Quevedo et al.
NATURE COMMUNICATIONS (2019)
SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring
Alessandro Sessa et al.
NEURON (2019)
A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Heba Yasin et al.
JOURNAL OF HUMAN GENETICS (2019)
The PRIDE database and related tools and resources in 2019: improving support for quantification data
Yasset Perez-Riverol et al.
NUCLEIC ACIDS RESEARCH (2019)
GENCODE reference annotation for the human and mouse genomes
Adam Frankish et al.
NUCLEIC ACIDS RESEARCH (2019)
Common CHD8 Genomic Targets Contrast With Model-Specific Transcriptional Impacts of CHD8 Haploinsufficiency
A. Ayanna Wade et al.
FRONTIERS IN MOLECULAR NEUROSCIENCE (2019)
MyoD induced enhancer RNA interacts with hnRNPL to activate target gene transcription during myogenic differentiation
Yu Zhao et al.
NATURE COMMUNICATIONS (2019)
The Encyclopedia of DNA elements (ENCODE): data portal update
Carrie A. Davis et al.
NUCLEIC ACIDS RESEARCH (2018)
Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice
Philipp Suetterlin et al.
CEREBRAL CORTEX (2018)
Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair
Chuntao Zhao et al.
DEVELOPMENTAL CELL (2018)
HnRNP L represses cryptic exons
Sean P. McClory et al.
RNA (2018)
ggsashimi: Sashimi plot revised for browser- and annotation-independent splicing visualization
Diego Garrido-Martin et al.
PLOS COMPUTATIONAL BIOLOGY (2018)
SUPPA2: fast, accurate, and uncertainty-aware differential splicing analysis across multiple conditions
Juan L. Trincado et al.
GENOME BIOLOGY (2018)
Germline Chd8 haploinsufficiency alters brain development in mouse
Andrea L. Gompers et al.
NATURE NEUROSCIENCE (2017)
The ATP-dependent chromatin remodeler Chd1 is recruited by transcription elongation factors and maintains H3K4me3/H3K36me3 domains at actively transcribed and spliced genes
Yaelim Lee et al.
NUCLEIC ACIDS RESEARCH (2017)
Intersectin 1 is a component of the Reelin pathway to regulate neuronal migration and synaptic plasticity in the hippocampus
Burkhard Jakob et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia
Lettie E. Rawlins et al.
CLINICAL DYSMORPHOLOGY (2017)
The hnRNP family: insights into their role in health and disease
Thomas Geuens et al.
HUMAN GENETICS (2016)
Coupling of RNA Polymerase II Transcription Elongation with Pre-mRNA Splicing
Tassa Saldi et al.
JOURNAL OF MOLECULAR BIOLOGY (2016)
CHD8 haploinsufficiency results in autistic-like phenotypes in mice
Yuta Katayama et al.
NATURE (2016)
Near-optimal probabilistic RNA-seq quantification
Nicolas L. Bray et al.
NATURE BIOTECHNOLOGY (2016)
Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling
Omer Durak et al.
NATURE NEUROSCIENCE (2016)
deepTools2: a next generation web server for deep-sequencing data analysis
Fidel Ramirez et al.
NUCLEIC ACIDS RESEARCH (2016)
Regulation of Alternative Splicing Through Coupling with Transcription and Chromatin Structure
Shiran Naftelberg et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
Mechanisms and Regulation of Alternative Pre-mRNA Splicing
Yeon Lee et al.
ANNUAL REVIEW OF BIOCHEMISTRY, VOL 84 (2015)
Histone exchange, chromatin structure and the regulation of transcription
Swaminathan Venkatesh et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2015)
Identification and characterization of essential genes in the human genome
Tim Wang et al.
SCIENCE (2015)
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
Justin Cotney et al.
NATURE COMMUNICATIONS (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)
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Raphael Bernier et al.
CELL (2014)
Variation in chromatin accessibility in human kidney cancer links H3K36 methyltransferase loss with widespread RNA processing defects
Jeremy M. Simon et al.
GENOME RESEARCH (2014)
Mutations in SETD2 cause a novel overgrowth condition
Armelle Luscan et al.
JOURNAL OF MEDICAL GENETICS (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)
Analysis of nuclear RNA interference in human cells by subcellular fractionation and Argonaute loading
Keith T. Gagnon et al.
NATURE PROTOCOLS (2014)
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
Aarathi Sugathan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data
Shihao Shen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Crosslinking-immunoprecipitation (iCLIP) analysis reveals global regulatory roles of hnRNP L
Oliver Rossbach et al.
RNA BIOLOGY (2014)
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)
STAR: ultrafast universal RNA-seq aligner
Alexander Dobin et al.
BIOINFORMATICS (2013)
Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
Neelroop N. Parikshak et al.
CELL (2013)
Vertebrate Intersectin1 Is Repurposed to Facilitate Cortical Midline Connectivity and Higher Order Cognition
Ameet S. Sengar et al.
JOURNAL OF NEUROSCIENCE (2013)
A compendium of RNA-binding motifs for decoding gene regulation
Debashish Ray et al.
NATURE (2013)
Kdm2b maintains murine embryonic stem cell status by recruiting PRC1 complex to CpG islands of developmental genes
Jin He et al.
NATURE CELL BIOLOGY (2013)
Exon and intron definition in pre-mRNA splicing
Laura De Conti et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2013)
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
Brett S. Abrahams et al.
MOLECULAR AUTISM (2013)
Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
Eric T. Wang et al.
CELL (2012)
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Michael E. Talkowski et al.
CELL (2012)
Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt-beta-Catenin Signaling Pathway
Masaaki Nishiyama et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Mediator Complex Regulates Alternative mRNA Processing via the MED23 Subunit
Yan Huang et al.
MOLECULAR CELL (2012)
Differential oestrogen receptor binding is associated with clinical outcome in breast cancer
Caryn S. Ross-Innes et al.
NATURE (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
ChromHMM: automating chromatin-state discovery and characterization
Jason Ernst et al.
NATURE METHODS (2012)
Understanding the language of Lys36 methylation at histone H3
Eric J. Wagner et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2012)
Chromatin remodelers Isw1 and Chd1 maintain chromatin structure during transcription by preventing histone exchange
Michaela Smolle et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2012)
clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters
Guangchuang Yu et al.
OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Normalization, bias correction, and peak calling for ChIP-seq
Aaron Diaz et al.
STATISTICAL APPLICATIONS IN GENETICS AND MOLECULAR BIOLOGY (2012)
A Key Role for Chd1 in Histone H3 Dynamics at the 3′ Ends of Long Genes in Yeast
Marta Radman-Livaja et al.
PLOS GENETICS (2012)
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
Jennifer C. Darnell et al.
CELL (2011)
More than a splicing code: integrating the role of RNA, chromatin and non-coding RNA in alternative splicing regulation
Reini F. Luco et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Global impact of RNA polymerase II elongation inhibition on alternative splicing regulation
Joanna Y. Ip et al.
GENOME RESEARCH (2011)
Integrative genomics viewer
James T. Robinson et al.
NATURE BIOTECHNOLOGY (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36
Sergio Fernandes de Almeida et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)
Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome
Steven D. Sheridan et al.
PLOS ONE (2011)
Pre-mRNA splicing is a determinant of histone H3K36 methylation
Soojin Kim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Understanding splicing regulation through RNA splicing maps
Joshua T. Witten et al.
TRENDS IN GENETICS (2011)
Functional diversity of the hnRNPs: past, present and perspectives
Siew Ping Han et al.
BIOCHEMICAL JOURNAL (2010)
Intersectin 1: a versatile actor in the synaptic vesicle cycle
Arndt Pechstein et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2010)
BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
Tserendulam Batsukh et al.
HUMAN MOLECULAR GENETICS (2010)
Expansion of the eukaryotic proteome by alternative splicing
Timothy W. Nilsen et al.
NATURE (2010)
HnRNP L-mediated regulation of mammalian alternative splicing by interference with splice site recognition
Monika Heiner et al.
RNA BIOLOGY (2010)
Regulation of Alternative Splicing by Histone Modifications
Reini F. Luco et al.
SCIENCE (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Biopython: freely available Python tools for computational molecular biology and bioinformatics
Peter J. A. Cock et al.
BIOINFORMATICS (2009)
BioMart - biological queries made easy
Damian Smedley et al.
BMC GENOMICS (2009)
Heterogeneous Nuclear Ribonucleoprotein L Is a Subunit of Human KMT3a/Set2 Complex Required for H3 Lys-36 Trimethylation Activity in Vivo
Wen Yuan et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
Masaaki Nishiyama et al.
NATURE CELL BIOLOGY (2009)
Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt
Steffen Durinck et al.
NATURE PROTOCOLS (2009)
When chromatin meets splicing
Alberto R. Kornblihtt et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene
M. Rodriguez-Paredes et al.
NUCLEIC ACIDS RESEARCH (2009)
CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes
Brandi A. Thompson et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Model-based Analysis of ChIP-Seq (MACS)
Yong Zhang et al.
GENOME BIOLOGY (2008)
Combinatorial control of signal-induced Exon repression by hnRNP l and PSF
Alexis A. Melton et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
A bivalent chromatin structure marks key developmental genes in embryonic stem cells
BE Bernstein et al.
CELL (2006)
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)
Dap160/intersectin acts as a stabilizing scaffold required for synaptic development and vesicle endocytosis
TW Koh et al.
NEURON (2004)
Early embryonic death in mice lacking the β-catenin-binding protein duplin
M Nishiyama et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
Methylation of histone H3 by Set2 in Saccharomyces cerevisiae is linked to transcriptional elongation by RNA polymerase II
NJ Krogan et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
MP Cuajungco et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A novel β-catenin-binding protein inhibits β-catenin-dependent Tcf activation and axis formation
I Sakamoto et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)