|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
The DUX4-fl pathogenic transcript was detected in FSHD biopsies but also in controls.
|
23777630 |
2013 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our work provides a framework for understanding the endogenous function of DUX4 and its role in FSHD and cancer.
|
30540931 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Aberrant expression of the D4Z4 ORF called DUX4 is associated with the pathogenesis of Facioscapulohumeral muscular dystrophy (FSHD).
|
28173143 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
FSHD is associated with partial chromatin relaxation of the D4Z4 repeat array on chromosome 4 and the somatic expression of the D4Z4 encoded DUX4 gene.
|
25782668 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
In vitro experiments demonstrate that clinically advanced p38 inhibitors suppress <i>DUX4</i> expression in FSHD type 1 and 2 myoblasts and differentiating myocytes in vitro with exquisite potency.
|
31189728 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
PosttranslationalModification
|
disease |
BEFREE |
Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.
|
26113644 |
2015 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Loss of silencing of the DUX4 gene on chromosome 4 causes facioscapulohumeral muscular dystrophy.
|
30446688 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Electroporation of FM10 into FSHD patient muscle xenografts in mice also down-regulated DUX4 and DUX4 targets.
|
27378237 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
FSHD is generally associated with the contraction of D4Z4 macrosatellite repeats on 4q35 chromosome or mutations in SMCHD1, which are responsible of the toxic expression of DUX4 in muscle tissue.
|
30911870 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
DUX4, the primary candidate for FSHD pathogenesis, is upregulated over ten-fold in FSHD myoblasts and myotubes with short telomeres, and its expression is inversely proportional to telomere length.
|
23644600 |
2013 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease.
|
17984056 |
2007 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Although strategies are being devised to inhibit DUX4 activity in FSHD, there is little known about the normal function of this protein.
|
23560660 |
2013 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
How DUX4 misexpression contributes to FSHD muscle pathology is a major focus of current investigation.
|
28915324 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy, known in genetic forms FSHD1 and FSHD2, is associated with D4Z4 repeat array chromatin relaxation and somatic derepression of DUX4 located in D4Z4.
|
30281091 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Although DUX4 silencing normalizes the FSHD atrophic myotube phenotype, this is not the case for the disorganized phenotype.
|
29329560 |
2018 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We mainly focus on DUX4 isoform expression because the expression of DUX4 has been confirmed in both FSHD cells and biopsies by several laboratories.
|
23966205 |
2014 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
A unifying pathogenic model for FSHD emerged with the recognition that the FSHD-permissive 4qA haplotype corresponds to a polyadenylation signal that stabilizes the DUX4 mRNA, allowing the toxic protein DUX4 to be expressed.
|
27816329 |
2016 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 expression.
|
30462217 |
2019 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
This data supports a model for DUX4 and PITX1 in FSHD only as pro-apoptotic factors if their expression in FSHD is confined to cells within the myogenic pathway; neither could account for the vascular pathology prevalent in FSHD.
|
20490329 |
2010 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The main FSHD form is linked to a reduced copy number of the D4Z4 macrosatellite repeat on 4q35, causing loss of silencing and aberrant expression of the D4Z4-embedded DUX4 gene leading to disease.
|
28040729 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We screened an aggregated chemical library enriched for compounds with epigenetic activities and the Pharmakon 1600 library composed of compounds that have reached clinical testing to identify molecules that decrease DUX4 expression as monitored by the levels of DUX4 target genes in FSHD patient-derived skeletal muscle cell cultures.
|
28870238 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our findings are consistent with the hypothesis that muscle damage in FSHD is due to DUX4-mediated toxicity causing destruction of terminally differentiated myofibers.
|
28637492 |
2017 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Recent studies have provided a plausible disease mechanism for FSHD in which FSHD results from inappropriate expression of the germline transcription factor DUX4.
|
22892954 |
2012 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Our model could explain why DUX4's inappropriate expression was barely detectable in myoblasts and myotubes but nonetheless linked to FSHD.
|
21951698 |
2011 |
|
Muscular Dystrophy, Facioscapulohumeral
|
0.600 |
Biomarker
|
disease |
BEFREE |
Double homeobox 4 (DUX4), the major actor in FSHD pathology induced DNA damage accumulation when overexpressed in normal human myoblasts, and RNAi-mediated DUX4 inhibition reduced the level of DNA damage in FSHD myoblasts.
|
27519269 |
2016 |