SPARQL | HTML5 RDFa and Microdata document
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      • https://identifiers.org/wikipathways/WP5342_r134693
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5342_r134693
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5342_r134693
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    • http://purl.org/dc/terms/isPartOf
      • https://identifiers.org/wikipathways/WP5342_r134693
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    • http://purl.org/dc/terms/isPartOf
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    • http://purl.org/dc/terms/isPartOf
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      • http://vocabularies.wikipathways.org/wp#Pathway
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    • http://purl.org/dc/elements/1.1/identifier
      • https://identifiers.org/wikipathways/WP5342
    • http://purl.org/dc/elements/1.1/source
      • WikiPathways
    • http://purl.org/dc/elements/1.1/title
      • Pathophysiological roles of DUX4 in FSHD1
    • http://purl.org/dc/terms/description
      • The transcription factor DUX4 is normally expressed during the 4-cell stage, activating various pathways leading to cleavage. This pathway shows how the abberrant expression of DUX4 in post-embryonic stages leads to several disturbations in skeletal muscle fibers, leading to adverse outcomes such as inflammation and apoptosis.
      • DUX4 is a transcription factor usually expressed in the 4-cell stage, activating several pathways involved in cleavage. This pathway shows how the aberrant expression of DUX4 in post-embryonic stages leads to several disturbances in skeletal muscle fibers, causing inflammation, apoptosis and other processes contributing to Facioscapulohumeral muscular dystrophy (FSHD).
      • DUX4 downstream signaling in FSHD. Low D4Z4 subunit methylation, which is caused either by low amount of D4Z4 subunits combined with a permissive 4q haplotype, or a mutation in genes involved with D4Z4 methylation, results in the expression of DUX4. Normally, DUX4 is only expressed during embryogenesis, after which it is silenced. Abnormal activation of DUX4 after silencing results in the muscle disease known as facioscapulohumeral muscular dystrophy, or FSHD.
    • http://purl.org/dc/terms/identifier
      • WP5342
    • http://purl.org/spar/cito/cites
      • https://identifiers.org/pubmed/28935672
      • https://identifiers.org/pubmed/24589735
      • https://identifiers.org/pubmed/28263188
      • https://doi.org/10.1124/jpet.119.259663
      • https://identifiers.org/pubmed/23821646
      • https://identifiers.org/pubmed/33712050
      • https://identifiers.org/pubmed/26138914
      • https://identifiers.org/pubmed/31722199
      • https://identifiers.org/pubmed/31979100
      • https://identifiers.org/pubmed/25551153
      • https://identifiers.org/pubmed/18288196
      • https://identifiers.org/pubmed/29655530
      • https://identifiers.org/pubmed/22622014
    • http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
      • http://purl.obolibrary.org/obo/DOID_11727
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      • http://rdf.wikipathways.org/Pathway/WP5342_r134693
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      • http://purl.obolibrary.org/obo/PW_0000013
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      • http://purl.obolibrary.org/obo/DOID_11727
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      • http://purl.obolibrary.org/obo/NCBITaxon_9606
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      • Homo sapiens
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      • http://purl.obolibrary.org/obo/PW_0000013
      • http://purl.obolibrary.org/obo/PW_0000004
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