(Q21563357)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

title

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

9

Paul Knopp

Paul

Knopp

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

6

Zizhen Yao

Zizhen

Yao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

10

Peter S Zammit

Peter S

Zammit

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Silvère M van der Maarel

17

object named as

Silvère M van der Maarel

Silvère M

van der Maarel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

7

Lisa

Maves

Lisa Maves

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

14

Rune R

Frants

Rune R Frants

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

13

George W

Padberg

George W Padberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

12

Baziel G M

van Engelen

Baziel G M van Engelen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

15

Rabi

Tawil

Rabi Tawil

1 reference

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28 February 2020

Yvonne D Krom

1

Yvonne D

Krom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Peter E Thijssen

2

Peter E

Thijssen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Janet M Young

3

Janet M

Young

1 reference

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28 February 2020

Bianca den Hamer

4

Bianca

den Hamer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Judit Balog

5

Judit

Balog

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Lauren Snider

8

Lauren

Snider

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Tonnie Rijkers

11

Tonnie

Rijkers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Stephen J Tapscott

16

Stephen J

Tapscott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

4 April 2013

1 reference

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28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

e1003415

1 reference

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Creative Commons Attribution 4.0 International

28 February 2020

copyright license

start time

4 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages

19 March 2017

1 reference

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

19 March 2017

1 reference

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Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

A unifying genetic model for facioscapulohumeral muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Mouse SWAM1 and SWAM2 are antibacterial proteins composed of a single whey acidic protein motif

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

lumi: a pipeline for processing Illumina microarray

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

MethPrimer: designing primers for methylation PCRs

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

28 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Genetic and epigenetic determinants of neurogenesis and myogenesis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Testing the effects of FSHD candidate gene expression in vertebrate muscle development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Genome-wide MyoD binding in skeletal muscle cells: a potential for broad cellular reprogramming.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Biphasic myopathic phenotype of mouse DUX, an ORF within conserved FSHD-related repeats.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

COBRA: combined binary ratio labeling of nucleic-acid probes for multi-color fluorescence in situ hybridization karyotyping

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Protocol for the fast chromatin immunoprecipitation (ChIP) method

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

limmaGUI: a graphical user interface for linear modeling of microarray data

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Quantitative DNA methylation analysis based on four-dye trace data from direct sequencing of PCR amplificates

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

The formation of skeletal muscle: from somite to limb

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Inappropriate Gene Activation in FSHD

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assembly

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

MyoD, myogenin independent differentiation of primordial myoblasts in mouse somites

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Immunodetection of human double homeobox 4.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Isolation and grafting of single muscle fibres.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

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

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003415

The origin of embryonic and fetal myoblasts: a role of Pax3 and Pax7.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003415

Common pathological mechanisms in mouse models for muscular dystrophies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616921

Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD

29 November 2018

1 reference

12 December 2020

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Tongue atrophy in facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

Detecting copy number changes in genomic DNA: MAPH and MLPA

1 reference

12 December 2020

Facioscapulohumeral muscular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1003415

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1371/JOURNAL.PGEN.1003415

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

PubMed publication ID

23593020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23593020%20AND%20SRC:MED&resulttype=core&format=json