DUX4, double homeobox 4, 100288687

N. diseases: 79; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 FSHD xenografts express DUX4 and DUX4 downstream targets, retain the 4q35 epigenetic signature of their original donors, and express a novel protein biomarker of FSHD, SLC34A2. 31306642 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 Biomarker disease BEFREE When misexpressed in FSHD skeletal muscle, the DUX4 program leads to accumulated muscle pathology. 31018108 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE We find that FSHD and BAMS patient's cells carrying SMCHD1 mutations are both permissive for DUX4 expression, a transcription factor whose regulation has been proposed as the main trigger for FSHD. 30698748 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE We describe the activity of a new spirocyclic EP300/CBP inhibitor, iP300w, which inhibits the cytotoxicity of the DUX4 protein and reverses the overexpression of most DUX4 target genes, in engineered cell lines and FSHD myoblasts, as well as in an FSHD animal model. 31535023 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 Biomarker disease BEFREE Importantly, PAX7 target gene repression is a significant biomarker in the majority of FSHD cells that are DUX4 target gene negative, and on which the DUX4 biomarker is indiscriminate. 31067297 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE We furthermore generated an FSHD cellular progression model, reflecting both the early burst-like DUX4 expression as well as the downstream activation of various FSHD-associated pathways, which allowed us to correlate DUX4 expression signature dynamics with that of regulatory complexes, thereby facilitating the prioritization of epigenetic targets for DUX4 silencing. 30445587 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 Biomarker disease BEFREE Our results provide a resource for the FSHD community and illustrate the importance of post-transcriptional processes in DUX4-induced pathology. 30644821 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE These results support the use of MRI to identify FSHD muscles most likely to have active disease and higher levels of DUX4 target gene expression and might be useful in early phase therapeutic trials to demonstrate target engagement in therapies aiming to suppress DUX4 expression. 30312408 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE In this study, we expand upon our previously established injection model of DUX4 misexpression in zebrafish and describe a DUX4-inducible transgenic zebrafish model that better recapitulates the expression pattern and late onset phenotype characteristic of FSHD patients. 30307508 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 GeneticVariation disease BEFREE Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. 31506080 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE Mis-expression of DUX4 in skeletal muscle, however, is toxic and causes facioscapulohumeral muscular dystrophy (FSHD). 31630170 2019
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE Critically, 4-methylumbelliferone does not disrupt DUX4-C1QBP binding and has only a limited effect on DUX4 transcriptional activity, establishing that HA signaling has a central function in pathology and is a target for FSHD therapeutics. 31844661 2019
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 Loss of silencing of the DUX4 gene on chromosome 4 causes facioscapulohumeral muscular dystrophy. 30446688 2018
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 GeneticVariation disease BEFREE Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the presence of DUX4 protein in sporadic muscle nuclei. 29281018 2018
Muscular Dystrophy, Facioscapulohumeral
0.600 Biomarker disease BEFREE Reasoning that DUX4-fl activators might represent useful targets for small molecule inhibition, we performed a highly targeted, candidate-based screen of epigenetic regulators in primary FSHD myocytes. 29759937 2018
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE FSHD is caused by expression of DUX4, a retrogene located on the D4Z4 macrosatellite repeat array on chromosome 4q35, a gene expressed in the germline but typically repressed in somatic tissue. 30361930 2018
Muscular Dystrophy, Facioscapulohumeral
0.600 Biomarker disease BEFREE Functional domains of the FSHD-associated DUX4 protein. 29618456 2018
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE Together, these findings identify NuRD and CAF-1 as mediators of DUX4 chromatin repression and suggest a mechanism for the amplification of DUX4 expression in FSHD muscle cells. 29533181 2018
Muscular Dystrophy, Facioscapulohumeral
0.600 AlteredExpression disease BEFREE Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2). 29162933 2018