Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.
about
Facioscapulohumeral dystrophy: the path to consensus on pathophysiologyThe lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylationThe "lnc" between 3D chromatin structure and X chromosome inactivationXist localization and function: new insights from multiple levelsX Inactivation Lessons from Differentiating Mouse Embryonic Stem CellsDosage compensation of the sex chromosomesEpigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomesThe FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.Three-dimensional super-resolution microscopy of the inactive X chromosome territory reveals a collapse of its active nuclear compartment harboring distinct Xist RNA foci.Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouseThe Mbd1-Atf7ip-Setdb1 pathway contributes to the maintenance of X chromosome inactivation.X chromosome regulation: diverse patterns in development, tissues and disease.Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expressionGenomic insights into cancer-associated aberrant CpG island hypermethylationIdentification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.X chromosome reactivation dynamics reveal stages of reprogramming to pluripotencyOntogeny of CpG island methylation and specificity of DNMT3 methyltransferases during embryonic development in the mouse.SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaksDosage compensation in mammals.Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivationIndividual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and diseaseGenetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologsGenome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulationThe Xist RNA-PRC2 complex at 20-nm resolution reveals a low Xist stoichiometry and suggests a hit-and-run mechanism in mouse cells.Impact of flanking chromosomal sequences on localization and silencing by the human non-coding RNA XIST.Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.A high-throughput screen of inactive X chromosome reactivation identifies the enhancement of DNA demethylation by 5-aza-2'-dC upon inhibition of ribonucleotide reductase.Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.Random X-chromosome inactivation dynamics in vivo by single-cell RNA sequencing.Genetic and epigenetic contributors to FSHD.X chromosome reactivation in reprogramming and in developmentSystems genetics implicates cytoskeletal genes in oocyte control of cloned embryo quality.Transcriptional profiling of the epigenetic regulator Smchd1.Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.X-chromosome inactivation and escape.Setdb1-mediated H3K9 methylation is enriched on the inactive X and plays a role in its epigenetic silencing.
P2860
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P2860
Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@ast
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@en
type
label
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@ast
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@en
prefLabel
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@ast
Smchd1-dependent and -independ ...... on the inactive X chromosome.
@en
P2093
P2860
P50
P1433
P1476
Smchd1-dependent and -independ ...... n on the inactive X chromosome
@en
P2093
Anwyn Apedaile
Ausma Termanis
Derek Huntley
Edith Heard
Giovanni Montana
Heather Coker
Ilona Zvetkova
Jonathan Godwin
Steven Taylor
P2860
P304
P356
10.1016/J.DEVCEL.2012.06.011
P407
P577
2012-07-26T00:00:00Z