(Q33480945)

English

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD).

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scholarly article

1 reference

Europe PubMed Central

27 July 2017

Specific loss of histone H3 lysine 9 trimethylation and HP1gamma/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD). (English)

1 reference

Europe PubMed Central

27 July 2017

Keith D. Robertson

object named as

Keith D Robertson

9

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Silvère M van der Maarel

object named as

Silvère M van der Maarel

17

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13

object named as

Rune R Frants

1 reference

Europe PubMed Central

27 July 2017

author name string

Weihua Zeng

1

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Europe PubMed Central

27 July 2017

Jessica C de Greef

2

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Europe PubMed Central

27 July 2017

Yen-Yun Chen

3

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Europe PubMed Central

27 July 2017

Richard Chien

4

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Europe PubMed Central

27 July 2017

Xiangduo Kong

5

1 reference

Europe PubMed Central

27 July 2017

Heather C Gregson

6

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Europe PubMed Central

27 July 2017

Sara T Winokur

7

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Europe PubMed Central

27 July 2017

April Pyle

8

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Europe PubMed Central

27 July 2017

John A Schmiesing

10

1 reference

Europe PubMed Central

27 July 2017

Virginia E Kimonis

11

1 reference

Europe PubMed Central

27 July 2017

Judit Balog

12

1 reference

Europe PubMed Central

27 July 2017

Alexander R Ball

14

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Europe PubMed Central

27 July 2017

Leslie F Lock

15

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27 July 2017

Peter J Donovan

16

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Europe PubMed Central

27 July 2017

Kyoko Yokomori

18

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Europe PubMed Central

27 July 2017

publication date

10 July 2009

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Europe PubMed Central

27 July 2017

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Europe PubMed Central

27 July 2017

5

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Europe PubMed Central

27 July 2017

e1000559

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Europe PubMed Central

27 July 2017

7

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Europe PubMed Central

27 July 2017

copyright license

Creative Commons Attribution 4.0 International

10 July 2009

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April 2022 Public Data File from Crossref

copyright status

0 references

Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Diverse roles of HP1 proteins in heterochromatin assembly and functions in fission yeast.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Architectural roles of multiple chromatin insulators at the human apolipoprotein gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

DXZ4 chromatin adopts an opposing conformation to that of the surrounding chromosome and acquires a novel inactive X-specific role involving CTCF and antisense transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Cohesins functionally associate with CTCF on mammalian chromosome arms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Cohesin mediates transcriptional insulation by CCCTC-binding factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

The epigenomics of cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Interchromosomal interactions and olfactory receptor choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

CTCF binding at the H19 imprinting control region mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to Igf2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Condensin I interacts with the PARP-1-XRCC1 complex and functions in DNA single-strand break repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Histone H3 lysine 9 methyltransferase G9a is a transcriptional coactivator for nuclear receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Histone H3 lysine 9 methylation and HP1gamma are associated with transcription elongation through mammalian chromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Chromosome-wide and promoter-specific analyses identify sites of differential DNA methylation in normal and transformed human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Interchromosomal associations between alternatively expressed loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Genomic maps and comparative analysis of histone modifications in human and mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Activating the PARP-1 sensor component of the groucho/ TLE1 corepressor complex mediates a CaMKinase IIdelta-dependent neurogenic gene activation pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Methyl-CpG binding protein MBD1 couples histone H3 methylation at lysine 9 by SETDB1 to DNA replication and chromatin assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

A Suv39h-dependent mechanism for silencing S-phase genes in differentiating but not in cycling cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Histone methyltransferases direct different degrees of methylation to define distinct chromatin domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Partitioning and plasticity of repressive histone methylation states in mammalian chromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Chromosomal cohesin forms a ring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Looping and interaction between hypersensitive sites in the active beta-globin locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Transvection effects in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Chromatin modification and epigenetic reprogramming in mammalian development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

A chromatin remodelling complex that loads cohesin onto human chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Inappropriate Gene Activation in FSHD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

The many faces of histone lysine methylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Recruitment of cohesin to heterochromatic regions by Swi6/HP1 in fission yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Requirement of heterochromatin for cohesion at centromeres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

A potential role for human cohesin in mitotic spindle aster assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Activation of beta-major globin gene transcription is associated with recruitment of NF-E2 to the beta-globin LCR and gene promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2700282

21 June 2018

Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Evidence for the existence of an HP1-mediated subcode within the histone code.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Evidence that homologous X-chromosome pairing requires transcription and Ctcf protein.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Effects of tethering HP1 to euchromatic regions of the Drosophila genome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Dynamic assembly of silent chromatin during thymocyte maturation

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Neurotrophins mediate human embryonic stem cell survival.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000559

21 January 2018

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19593370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

1 reference

https://pubmed.ncbi.nlm.nih.gov/19593370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19593370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19593370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19593370

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1000559

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

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