SPARQL | HTML5 RDFa and Microdata document
https://identifiers.org/chebi/CHEBI:17489
https://identifiers.org/wikipathways/WP1047
https://identifiers.org/wikipathways/WP400
https://identifiers.org/wikipathways/WP428
https://identifiers.org/ncbigene/1026
https://identifiers.org/ncbigene/10891
https://identifiers.org/ncbigene/2033
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https://identifiers.org/ncbigene/5979
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https://identifiers.org/ensembl/ENSG00000009709
https://identifiers.org/ensembl/ENSG00000268799
https://identifiers.org/ensembl/ENSG00000269466
https://identifiers.org/ncbigene/100288687
https://identifiers.org/ncbigene/4617
https://identifiers.org/wikipathways/WP211
https://identifiers.org/wikipathways/WP2902
https://identifiers.org/wikipathways/WP5342
https://identifiers.org/ncbigene/5976
https://identifiers.org/chebi/CHEBI:23965
https://identifiers.org/ncbigene/154
https://identifiers.org/ncbigene/114907
https://identifiers.org/ncbigene/84676
https://identifiers.org/ncbigene/4654
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https://identifiers.org/wikipathways/WP5342_r134693
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https://identifiers.org/wikipathways/WP5342
http://purl.org/dc/elements/1.1/source
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
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
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http://rdf.wikipathways.org/Pathway/WP5342_r134693
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http://purl.obolibrary.org/obo/PW_0000013
http://purl.obolibrary.org/obo/PW_0000004
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http://purl.obolibrary.org/obo/DOID_11727
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