Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
出版年份 2018 全文链接
标题
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions
作者
关键词
-
出版物
NATURE GENETICS
Volume 51, Issue 1, Pages 96-105
出版商
Springer Nature
发表日期
2018-11-23
DOI
10.1038/s41588-018-0274-x
参考文献
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 H3K36me2 Methyltransferase Nsd1 Demarcates PRC2-Mediated H3K27me2 and H3K27me3 Domains in Embryonic Stem Cells
- (2018) Gundula Streubel et al. MOLECULAR CELL
- Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo
- (2018) Mira Jeong et al. Cell Reports
- Chromatin-state discovery and genome annotation with ChromHMM
- (2017) Jason Ernst et al. Nature Protocols
- Tatton-Brown-Rahman syndrome due to 2p23 microdeletion
- (2016) Nobuhiko Okamoto et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A PWWP Domain of Histone-LysineN-Methyltransferase NSD2 Binds to Dimethylated Lys-36 of Histone H3 and Regulates NSD2 Function at Chromatin
- (2016) Saumya M. Sankaran et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort
- (2016) Camille Tlemsani et al. JOURNAL OF MEDICAL GENETICS
- Structural basis for recognition of histone H3K36me3 nucleosome by human de novo DNA methyltransferases 3A and 3B
- (2016) Grégoire Rondelet et al. JOURNAL OF STRUCTURAL BIOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Polycomb enables primitive endoderm lineage priming in embryonic stem cells
- (2016) Robert S Illingworth et al. eLife
- De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
- (2015) Lindsay C. Burrage et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Sambamba: fast processing of NGS alignment formats
- (2015) Artem Tarasov et al. BIOINFORMATICS
- AnXRCC4Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome
- (2015) Christiaan de Bruin et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A novel mutation in EED associated with overgrowth
- (2015) Ana S A Cohen et al. JOURNAL OF HUMAN GENETICS
- Tet1 and Tet2 Protect DNA Methylation Canyons against Hypermethylation
- (2015) Laura Wiehle et al. MOLECULAR AND CELLULAR BIOLOGY
- FBXL10 protects Polycomb-bound genes from hypermethylation
- (2015) Mathieu Boulard et al. NATURE GENETICS
- DNA methylation pathways and their crosstalk with histone methylation
- (2015) Jiamu Du et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
- (2015) Katrina Tatton-Brown et al. Oncotarget
- Application of histone modification-specific interaction domains as an alternative to antibodies
- (2014) Goran Kungulovski et al. GENOME RESEARCH
- Mutations inSETD2cause a novel overgrowth condition
- (2014) Armelle Luscan et al. JOURNAL OF MEDICAL GENETICS
- Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
- (2014) Katrina Tatton-Brown et al. NATURE GENETICS
- Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- (2014) Carol-Anne Martin et al. NATURE GENETICS
- Defining the role of common variation in the genomic and biological architecture of adult human height
- (2014) Andrew R Wood et al. NATURE GENETICS
- Middle-down hybrid chromatography/tandem mass spectrometry workflow for characterization of combinatorial post-translational modifications in histones
- (2014) Simone Sidoli et al. PROTEOMICS
- Structure and function of the nucleosome-binding PWWP domain
- (2014) Su Qin et al. TRENDS IN BIOCHEMICAL SCIENCES
- Quantitative ChIP-Seq Normalization Reveals Global Modulation of the Epigenome
- (2014) David A. Orlando et al. Cell Reports
- featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
- (2013) Y. Liao et al. BIOINFORMATICS
- Epigenomic Analysis of Multilineage Differentiation of Human Embryonic Stem Cells
- (2013) Wei Xie et al. CELL
- A double take on bivalent promoters
- (2013) P. Voigt et al. GENES & DEVELOPMENT
- Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis
- (2013) Salma Awad et al. HUMAN MOLECULAR GENETICS
- Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
- (2013) Jennie E. Murray et al. HUMAN MUTATION
- Large conserved domains of low DNA methylation maintained by Dnmt3a
- (2013) Mira Jeong et al. NATURE GENETICS
- Genome engineering using the CRISPR-Cas9 system
- (2013) F Ann Ran et al. Nature Protocols
- Low-level processing of Illumina Infinium DNA Methylation BeadArrays
- (2013) Timothy J. Triche et al. NUCLEIC ACIDS RESEARCH
- Chromatin Sampling—An Emerging Perspective on Targeting Polycomb Repressor Proteins
- (2013) Robert J. Klose et al. PLoS Genetics
- Epigenetic conservation at gene regulatory elements revealed by non-methylated DNA profiling in seven vertebrates
- (2013) Hannah K Long et al. eLife
- Chromatin measurements reveal contributions of synthesis and decay to steady-state mRNA levels
- (2012) Sylvia C Tippmann et al. Molecular Systems Biology
- ChromHMM: automating chromatin-state discovery and characterization
- (2012) Jason Ernst et al. NATURE METHODS
- Mutations in EZH2 Cause Weaver Syndrome
- (2011) William T. Gibson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Bismark: a flexible aligner and methylation caller for Bisulfite-Seq applications
- (2011) Felix Krueger et al. BIOINFORMATICS
- Mechanisms and pathways of growth failure in primordial dwarfism
- (2011) A. Klingseisen et al. GENES & DEVELOPMENT
- H3K36 Methylation Antagonizes PRC2-mediated H3K27 Methylation
- (2011) Wen Yuan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mapping and analysis of chromatin state dynamics in nine human cell types
- (2011) Jason Ernst et al. NATURE
- Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
- (2011) Duane L Guernsey et al. NATURE GENETICS
- Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
- (2011) Louise S Bicknell et al. NATURE GENETICS
- Mutations in the pre-replication complex cause Meier-Gorlin syndrome
- (2011) Louise S Bicknell et al. NATURE GENETICS
- Dnmt3a is essential for hematopoietic stem cell differentiation
- (2011) Grant A Challen et al. NATURE GENETICS
- De novo DNA methylation: a germ cell perspective
- (2011) Sébastien A. Smallwood et al. TRENDS IN GENETICS
- Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
- (2011) Peter N Robinson GENOME BIOLOGY
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences
- (2010) Christian Rohde et al. BMC BIOINFORMATICS
- Nucleosome-Interacting Proteins Regulated by DNA and Histone Methylation
- (2010) Till Bartke et al. CELL
- The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation
- (2010) Arunkumar Dhayalan et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- CpG Islands Recruit a Histone H3 Lysine 36 Demethylase
- (2010) Neil P. Blackledge et al. MOLECULAR CELL
- Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex
- (2010) J. D. Pereira et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Dnmt3a-Dependent Nonpromoter DNA Methylation Facilitates Transcription of Neurogenic Genes
- (2010) H. Wu et al. SCIENCE
- edgeR: a Bioconductor package for differential expression analysis of digital gene expression data
- (2009) M. D. Robinson et al. BIOINFORMATICS
- Genome-scale DNA methylation maps of pluripotent and differentiated cells
- (2008) Alexander Meissner et al. NATURE
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
- (2008) A. Rauch et al. SCIENCE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started