{"doi":"10.1016/j.molmed.2011.01.001","title":"Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence","abstract":null,"journal":"Trends in Molecular Medicine","year":2011,"id":669964,"datarank":0.7525919755222388,"base_score":5.017279836814924,"endowment":5.017279836814924,"self_citation_contribution":0.7525919755222388,"citation_network_contribution":0.0,"self_endowment_contribution":0.7525919755222388,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":150,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":294721,"name":"Rabi Tawil","orcid":"0000-0003-1394-1494","position":1,"is_corresponding":false},{"id":294722,"name":"Stephen J. Tapscott","orcid":"0000-0002-0319-0968","position":2,"is_corresponding":false},{"id":294720,"name":"Silvère M. van der Maarel","orcid":"0000-0001-8103-711X","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence","abstract":"Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then epigenetically silenced in somatic tissues. In FSHD, the combination of inefficient chromatin silencing of the D4Z4 repeat and polymorphisms on the FSHD-permissive alleles that stabilize the DUX4 mRNAs emanating from the repeat result in inappropriate DUX4 protein expression in muscle cells. FSHD is thereby the first example of a human disease caused by the inefficient repression of a retrogene in a macrosatellite repeat array.","is_dataset_classified":null,"base_score":0.0,"endowment":0.0,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"21288772","pmcid":"PMC3092836","openalex_id":null,"authors":[],"funders":[{"funder_name":"NIAMS NIH HHS","grant_id":"R21 AR059966","title":null},{"funder_name":"NIAMS NIH HHS","grant_id":"R01 AR045203","title":null},{"funder_name":"NINDS NIH HHS","grant_id":"P01 NS069539","title":null},{"funder_name":"National Institutes of Health","grant_id":"5P01NS069539-09","title":"The pathogenesis of facioscapulohumeral muscular dystrophy"},{"funder_name":"National Institutes of Health","grant_id":"1R21AR059966-01","title":"Clonal isogenic and immortalized FSHD myoblasts with or without D4Z4 contraction"},{"funder_name":"National Institutes of Health","grant_id":"5R01AR045203-24","title":"D4Z4 Coding Transcripts and FSHD"}],"total_grants":6,"fwci":null,"citation_percentile":null,"influential_citations":0,"citation_trend":[],"oa_status":"green","license":"Elsevier TDM","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3092836","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S1471491411000025?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S1471491411000025?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.molmed.2011.01.001","host_type":""},{"url":"https://europepmc.org/articles/pmc3092836?pdf=render","host_type":""},{"url":"https://pubmed.ncbi.nlm.nih.gov/21288772","host_type":""},{"url":"https://dx.doi.org/10.1016/j.molmed.2011.01.001","host_type":""},{"url":"https://hdl.handle.net/1887/108748","host_type":""}],"fields_of_study":["0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":["Chromatin","Humans","Muscular Dystrophy, Facioscapulohumeral","Homeodomain Proteins","Transcription, Genetic","Gene Silencing","Microsatellite Repeats","Models, Genetic","Epigenomics"],"keywords":["Epigenomics","Homeodomain Proteins","Models, Genetic","Transcription, Genetic","Humans","Gene Silencing","Chromatin","Muscular Dystrophy, Facioscapulohumeral","Microsatellite Repeats"],"sdg_mappings":[{"sdg_number":3,"sdg_label":"3. 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