{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:36:16Z","timestamp":1786653376903,"version":"build-2736575974"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T00:00:00Z","timestamp":1784764800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Telethon Foundation","doi-asserted-by":"publisher","award":["GJC23060"],"award-info":[{"award-number":["GJC23060"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PNRR-M4C2-I1.3"],"award-info":[{"award-number":["PNRR-M4C2-I1.3"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100024370","name":"Ministero dell'Istruzione dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100024370","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Trends in Genetics"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.tig.2026.07.006","type":"journal-article","created":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T12:15:47Z","timestamp":1786536947000},"update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Everything, everywhere: FSHD as a model for complex genetic disease"],"prefix":"10.1016","author":[{"given":"Valentina","family":"Salsi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Losi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3797-1789","authenticated-orcid":false,"given":"Rossella","family":"Tupler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.tig.2026.07.006_bb0005","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"10.1016\/j.tig.2026.07.006_bb0010","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1007\/s00415-016-8123-2","article-title":"A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes","volume":"263","author":"Ricci","year":"2016","journal-title":"J. Neurol."},{"key":"10.1016\/j.tig.2026.07.006_bb0015","doi-asserted-by":"crossref","first-page":"2464","DOI":"10.1101\/gad.251041.114","article-title":"Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances","volume":"28","author":"Robin","year":"2014","journal-title":"Genes Dev."},{"key":"10.1016\/j.tig.2026.07.006_bb0020","doi-asserted-by":"crossref","first-page":"10327","DOI":"10.1038\/s41598-019-46861-x","article-title":"Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy","volume":"9","author":"Gaillard","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.tig.2026.07.006_bb0025","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000394","article-title":"The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy","volume":"5","author":"Ottaviani","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.tig.2026.07.006_bb0030","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1038\/s41431-025-02000-x","article-title":"Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats","volume":"34","author":"Salsi","year":"2026","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.tig.2026.07.006_bb0035","article-title":"Stage-dependent chromatin accessibility remodeling defines an architectural state in facioscapulohumeral muscular dystrophy myoblasts","author":"Losi","year":"2026","journal-title":"bioRxiv"},{"key":"10.1016\/j.tig.2026.07.006_bb0040","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkaf643","article-title":"Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis","volume":"53","author":"Salsi","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.tig.2026.07.006_bb0045","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.cell.2012.03.035","article-title":"A long ncRNA links copy number variation to a polycomb\/trithorax epigenetic switch in FSHD muscular dystrophy","volume":"149","author":"Cabianca","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.tig.2026.07.006_bb0050","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0035532","article-title":"Asymmetric bidirectional transcription from the FSHD-causing D4Z4 array modulates DUX4 production","volume":"7","author":"Block","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.tig.2026.07.006_bb0055","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13148-025-01881-5","article-title":"Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length","volume":"17","author":"Salsi","year":"2025","journal-title":"Clin. Epigenetics"},{"key":"10.1016\/j.tig.2026.07.006_bb0060","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.adt5356","article-title":"DUX4 activates common and context-specific intergenic transcripts and isoforms","volume":"11","author":"Zheng","year":"2025","journal-title":"Sci. Adv."},{"key":"10.1016\/j.tig.2026.07.006_bb0065","doi-asserted-by":"crossref","DOI":"10.1083\/jcb.202501129","article-title":"DUX4-induced HSATII RNA accumulation drives protein aggregation, impacting RNA processing pathways","volume":"225","author":"Arends","year":"2026","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.tig.2026.07.006_bb0070","doi-asserted-by":"crossref","DOI":"10.1016\/j.mcpro.2023.100605","article-title":"Facioscapulohumeral muscular dystrophy is associated with altered myoblast proteome dynamics","volume":"22","author":"Nishimura","year":"2023","journal-title":"Mol. Cell. Proteom."},{"key":"10.1016\/j.tig.2026.07.006_bb0075","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1038\/s41431-024-01770-0","article-title":"Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with facioscapulohumeral muscular dystrophy type I","volume":"33","author":"Puma","year":"2025","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.tig.2026.07.006_bb0080","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1101\/gr.278717.123","article-title":"Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular dystrophy","volume":"34","author":"Chen","year":"2024","journal-title":"Genome Res."}],"container-title":["Trends in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0168952526001757?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0168952526001757?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:36:17Z","timestamp":1786649777000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0168952526001757"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":16,"alternative-id":["S0168952526001757"],"URL":"https:\/\/doi.org\/10.1016\/j.tig.2026.07.006","relation":{},"ISSN":["0168-9525"],"issn-type":[{"value":"0168-9525","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Everything, everywhere: FSHD as a model for complex genetic disease","name":"articletitle","label":"Article Title"},{"value":"Trends in Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.tig.2026.07.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}