In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy. (Q37961725)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

17 January 2020

title

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

facioscapulohumeral muscular dystrophy

17 January 2020

main subject

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author

Davide Gabellini

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

17 January 2020

Maria Victoria Neguembor

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Maria V Neguembor

series ordinal

1

1 reference

26 August 2017

publication date

1 April 2010

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

17 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22121874 AND SRC:MED&resulttype=core&format=json

17 January 2020

volume

2

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17 January 2020

issue

2

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17 January 2020

page(s)

271-287

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The relationship between non-protein-coding DNA and eukaryotic complexity

17 January 2020

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Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

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Epigenetic mechanisms of facioscapulohumeral muscular dystrophy

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The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure

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

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Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy.

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Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers.

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

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

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Identification of clustered YY1 binding sites in imprinting control regions

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The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy.

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Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

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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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Nuclear architecture and gene regulation

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The emergence of lineage-specific chromosomal topologies from coordinate gene regulation

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

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

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Laminopathies and the long strange trip from basic cell biology to therapy

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Insulators: exploiting transcriptional and epigenetic mechanisms

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Genetics and epigenetics of the multifunctional protein CTCF.

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Functional organisation of the genome during interphase

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Three-dimensional genome organization in interphase and its relation to genome function

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Comprehensive mapping of long-range interactions reveals folding principles of the human genome

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A nuclear matrix attachment site in the 4q35 locus has an enhancer-blocking activity in vivo: implications for the facio-scapulo-humeral dystrophy

21 January 2018

1 reference

A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy

21 January 2018

1 reference

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

21 January 2018

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DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2

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Muscular dystrophy candidate gene FRG1 is critical for muscle development

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Isolation of an active step I spliceosome and composition of its RNP core

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FRG1P-mediated aggregation of proteins involved in pre-mRNA processing

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The role of RNP biogenesis in spinal muscular atrophy

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Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies

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Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients

21 January 2018

1 reference

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

21 January 2018

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection

21 January 2018

1 reference

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress.

21 January 2018

1 reference

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

21 January 2018

1 reference

Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.

21 January 2018

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21 January 2018

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The role of Pax genes in the development of tissues and organs: Pax3 and Pax7 regulate muscle progenitor cell functions

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation

21 January 2018

1 reference

Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4

21 January 2018

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21 January 2018

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