{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T05:42:51Z","timestamp":1793684571076,"version":"4.5.1"},"reference-count":84,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20jk0210009"],"award-info":[{"award-number":["20jk0210009"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["P01NS069539"],"award-info":[{"award-number":["P01NS069539"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01AR071287"],"award-info":[{"award-number":["R01AR071287"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["iScience"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1016\/j.isci.2024.109357","type":"journal-article","created":{"date-parts":[[2024,2,29]],"date-time":"2024-02-29T11:54:39Z","timestamp":1709207679000},"page":"109357","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation"],"prefix":"10.1016","volume":"27","author":[{"given":"Xiangduo","family":"Kong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nam Viet","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumeng","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmine Shaaban","family":"Sakr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Sharifi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Chau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altay","family":"Bayrakci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiya","family":"Mizuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Kiyono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabi","family":"Tawil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Mortazavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2785-4589","authenticated-orcid":false,"given":"Kyoko","family":"Yokomori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.isci.2024.109357_bib1","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","article-title":"Population-based incidence and prevalence of facioscapulohumeral dystrophy","volume":"83","author":"Deenen","year":"2014","journal-title":"Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.3233\/JND-200554","article-title":"Current therapeutic approaches in FSHD","volume":"8","author":"Wang","year":"2021","journal-title":"J.\u00a0Neuromuscul. Dis."},{"key":"10.1016\/j.isci.2024.109357_bib3","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1086\/428361","article-title":"The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy","volume":"76","author":"van der Maarel","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib4","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/j.molmed.2011.01.001","article-title":"Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence","volume":"17","author":"van der Maarel","year":"2011","journal-title":"Trends Mol. Med."},{"key":"10.1016\/j.isci.2024.109357_bib5","doi-asserted-by":"crossref","first-page":"4419","DOI":"10.1093\/hmg\/dds284","article-title":"Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis","volume":"21","author":"Jones","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib6","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"Lemmers","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib7","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2013.08.004","article-title":"The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1","volume":"93","author":"Sacconi","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib8","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1038\/ejhg.2014.191","article-title":"Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1","volume":"23","author":"Larsen","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib9","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1038\/ng.3765","article-title":"De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development","volume":"49","author":"Gordon","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib10","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/ng.3743","article-title":"SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome","volume":"49","author":"Shaw","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib11","doi-asserted-by":"crossref","first-page":"e562","DOI":"10.1212\/WNL.0000000000005958","article-title":"FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation","volume":"91","author":"Mul","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.isci.2024.109357_bib12","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/S0378-1119(99)00267-X","article-title":"Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element","volume":"236","author":"Gabri\u00ebls","year":"1999","journal-title":"Gene"},{"key":"10.1016\/j.isci.2024.109357_bib13","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.devcel.2011.11.013","article-title":"DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy","volume":"22","author":"Geng","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.isci.2024.109357_bib14","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1001181","article-title":"Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene","volume":"6","author":"Snider","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.isci.2024.109357_bib15","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/ng.3844","article-title":"Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL\/HERVL retrotransposons","volume":"49","author":"Hendrickson","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib16","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1038\/ng.3846","article-title":"Conservation and innovation in the DUX4-family gene network","volume":"49","author":"Whiddon","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib17","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.isci.2024.109357_bib18","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1089\/ars.2014.6090","article-title":"Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease","volume":"22","author":"Himeda","year":"2015","journal-title":"Antioxidants Redox Signal."},{"key":"10.1016\/j.isci.2024.109357_bib19","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1755-8794-4-67","article-title":"Gene expression during normal and FSHD myogenesis","volume":"4","author":"Tsumagari","year":"2011","journal-title":"BMC Med. Genom."},{"key":"10.1016\/j.isci.2024.109357_bib20","doi-asserted-by":"crossref","first-page":"4206","DOI":"10.1093\/hmg\/ddt272","article-title":"Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy","volume":"22","author":"Broucqsault","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib21","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1093\/hmg\/ddt409","article-title":"DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles","volume":"23","author":"Ferreboeuf","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib22","doi-asserted-by":"crossref","first-page":"16234","DOI":"10.1073\/pnas.1209508109","article-title":"Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers","volume":"109","author":"Rahimov","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.isci.2024.109357_bib23","doi-asserted-by":"crossref","first-page":"5901","DOI":"10.1093\/hmg\/ddv315","article-title":"Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways","volume":"24","author":"Rickard","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib24","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/ng1262","article-title":"Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy","volume":"35","author":"van Overveld","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib25","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1212\/01.wnl.0000271391.44352.fe","article-title":"Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD","volume":"69","author":"de Greef","year":"2007","journal-title":"Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib26","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1002\/humu.21091","article-title":"Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD","volume":"30","author":"de Greef","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.isci.2024.109357_bib27","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000559","article-title":"Specific loss of histone H3 lysine 9 trimethylation and HP1\u03b3\/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)","volume":"5","author":"Zeng","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.isci.2024.109357_bib28","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1002\/humu.22593","article-title":"Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q\/10q D4Z4 Homologs","volume":"35","author":"Zeng","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.isci.2024.109357_bib29","series-title":"Epigenomics: From Chromatin Biology to Therapeutics","first-page":"347","article-title":"The epigenetics of facioscapulohumeral muscular dystrophy","author":"Zeng","year":"2012"},{"key":"10.1016\/j.isci.2024.109357_bib30","doi-asserted-by":"crossref","first-page":"R182","DOI":"10.1186\/gb-2008-9-12-r182","article-title":"A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development","volume":"9","author":"Ashe","year":"2008","journal-title":"Genome Biol."},{"key":"10.1016\/j.isci.2024.109357_bib31","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/ng.142","article-title":"SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation","volume":"40","author":"Blewitt","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib32","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/j.devcel.2012.06.011","article-title":"Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome","volume":"23","author":"Gendrel","year":"2012","journal-title":"Dev. Cell"},{"key":"10.1016\/j.isci.2024.109357_bib33","doi-asserted-by":"crossref","first-page":"3150","DOI":"10.1128\/MCB.00145-13","article-title":"Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes","volume":"33","author":"Gendrel","year":"2013","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.isci.2024.109357_bib34","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1038\/emboj.2008.201","article-title":"An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies","volume":"27","author":"Bosnakovski","year":"2008","journal-title":"EMBO J."},{"key":"10.1016\/j.isci.2024.109357_bib35","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0026820","article-title":"The FSHD atrophic myotube phenotype is caused by DUX4 expression","volume":"6","author":"Vanderplanck","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.isci.2024.109357_bib36","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.04996","article-title":"A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy","volume":"4","author":"Feng","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.isci.2024.109357_bib37","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006658","article-title":"DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy","volume":"13","author":"Shadle","year":"2017","journal-title":"PLoS Genet."},{"key":"10.1016\/j.isci.2024.109357_bib38","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.41740","article-title":"Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy","volume":"8","author":"Jagannathan","year":"2019","journal-title":"Elife"},{"key":"10.1016\/j.isci.2024.109357_bib39","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aay0271","article-title":"Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy","volume":"12","author":"Lek","year":"2020","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.isci.2024.109357_bib40","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1002\/humu.24171","article-title":"Relationship of DUX4 and target gene expression in FSHD myocytes","volume":"42","author":"Chau","year":"2021","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.isci.2024.109357_bib41","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008754","article-title":"Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei","volume":"16","author":"Jiang","year":"2020","journal-title":"PLoS Genet."},{"key":"10.1016\/j.isci.2024.109357_bib42","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1002\/acn3.158","article-title":"Expression of FSHD-related DUX4-FL alters proteostasis and induces TDP-43 aggregation","volume":"2","author":"Homma","year":"2015","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib43","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1038\/s41467-017-00730-1","article-title":"Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model","volume":"8","author":"Bosnakovski","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.isci.2024.109357_bib44","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0192657","article-title":"A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy","volume":"13","author":"Jones","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.isci.2024.109357_bib45","doi-asserted-by":"crossref","first-page":"5342","DOI":"10.1093\/hmg\/ddu251","article-title":"DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle","volume":"23","author":"Yao","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib46","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1016\/j.ajpath.2012.07.007","article-title":"Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD","volume":"181","author":"Krom","year":"2012","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.isci.2024.109357_bib47","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1093\/nar\/gkz005","article-title":"SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite","volume":"47","author":"Dion","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.isci.2024.109357_bib48","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/ana.25326","article-title":"Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study","volume":"84","author":"Goselink","year":"2018","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib49","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1007676","article-title":"Striated myocyte structural integrity: Automated analysis of sarcomeric z-discs","volume":"16","author":"Morris","year":"2020","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.isci.2024.109357_bib50","first-page":"4419","article-title":"Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells","volume":"25","author":"Jagannathan","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib51","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1093\/hmg\/ddg327","article-title":"Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation","volume":"12","author":"Winokur","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib52","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13395-020-00227-4","article-title":"Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity","volume":"10","author":"Jones","year":"2020","journal-title":"Skeletal Muscle"},{"key":"10.1016\/j.isci.2024.109357_bib53","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1093\/hmg\/ddy364","article-title":"MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD","volume":"28","author":"Wang","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib54","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.gde.2015.08.007","article-title":"Genetic and epigenetic contributors to FSHD","volume":"33","author":"Daxinger","year":"2015","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.isci.2024.109357_bib55","doi-asserted-by":"crossref","first-page":"3459","DOI":"10.1242\/dev.134510","article-title":"The human PRD-like homeobox gene LEUTX has a central role in embryo genome activation","volume":"143","author":"Jouhilahti","year":"2016","journal-title":"Development"},{"key":"10.1016\/j.isci.2024.109357_bib56","doi-asserted-by":"crossref","first-page":"1812","DOI":"10.1016\/j.celrep.2019.10.025","article-title":"DUX4-induced histone variants H3.X and H3.Y mark DUX4 target genes for expression","volume":"29","author":"Resnick","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.isci.2024.109357_bib57","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1136\/jmedgenet-2017-105153","article-title":"Monosomy 18p is a risk factor for facioscapulohumeral dystrophy","volume":"55","author":"Balog","year":"2018","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib58","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1093\/hmg\/ddu486","article-title":"Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2","volume":"24","author":"Lemmers","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib59","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.3390\/ijms18102093","article-title":"CRISPR-Cas9 mediated telomere removal leads to mitochondrial stress and protein aggregation","volume":"18","author":"Kim","year":"2017","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.isci.2024.109357_bib60","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abb9149","article-title":"The chromosomal protein SMCHD1 regulates DNA methylation and the 2c-like state of embryonic stem cells by antagonizing TET proteins","volume":"7","author":"Huang","year":"2021","journal-title":"Sci. Adv."},{"key":"10.1016\/j.isci.2024.109357_bib61","doi-asserted-by":"crossref","first-page":"4024","DOI":"10.1093\/hmg\/ddy293","article-title":"A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4","volume":"27","author":"Sasaki-Honda","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib62","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1093\/hmg\/ddx437","article-title":"Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model","volume":"27","author":"de Greef","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib63","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1038\/nsmb.2532","article-title":"Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway","volume":"20","author":"Nozawa","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.isci.2024.109357_bib64","doi-asserted-by":"crossref","first-page":"4053","DOI":"10.1128\/MCB.00432-15","article-title":"Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome","volume":"35","author":"Brideau","year":"2015","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.isci.2024.109357_bib65","first-page":"e2441","article-title":"Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy","volume":"94","author":"Hamanaka","year":"2020","journal-title":"Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib66","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddy162","article-title":"Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle","volume":"27","author":"Campbell","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.isci.2024.109357_bib67","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.31023","article-title":"NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins","volume":"7","author":"Campbell","year":"2018","journal-title":"Elife"},{"key":"10.1016\/j.isci.2024.109357_bib68","doi-asserted-by":"crossref","first-page":"12700","DOI":"10.1074\/jbc.M413492200","article-title":"MBD3L2 interacts with MBD3 and components of the NuRD complex and can oppose MBD2-MeCP1-mediated methylation silencing","volume":"280","author":"Jin","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.isci.2024.109357_bib69","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.stem.2022.01.014","article-title":"8C-like cells capture the human zygotic genome activation program in\u00a0vitro","volume":"29","author":"Taubenschmid-Stowers","year":"2022","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.isci.2024.109357_bib70","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2022.110994","article-title":"Recapitulating early human development with 8C-like cells","volume":"39","author":"Yu","year":"2022","journal-title":"Cell Rep."},{"key":"10.1016\/j.isci.2024.109357_bib71","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2023.106172","article-title":"Comprehensive characterization of the embryonic factor LEUTX","volume":"26","author":"Gawriyski","year":"2023","journal-title":"iScience"},{"key":"10.1016\/j.isci.2024.109357_bib72","series-title":"Genomic Control Process: Development and Evolution","author":"Peter","year":"2015"},{"key":"10.1016\/j.isci.2024.109357_bib73","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3349\/ymj.2018.59.2.337","article-title":"FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1","volume":"59","author":"Park","year":"2018","journal-title":"Yonsei Med. J."},{"key":"10.1016\/j.isci.2024.109357_bib74","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1172\/JCI89401","article-title":"Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity","volume":"127","author":"Teveroni","year":"2017","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.isci.2024.109357_bib75","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/s41582-022-00762-2","article-title":"Facioscapulohumeral muscular dystrophy: the road to targeted therapies","volume":"19","author":"Tihaya","year":"2023","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.isci.2024.109357_bib76","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.isci.2024.109357_bib77","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1186\/1471-2105-12-323","article-title":"RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome","volume":"12","author":"Li","year":"2011","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.isci.2024.109357_bib78","doi-asserted-by":"crossref","first-page":"4288","DOI":"10.1093\/nar\/gks042","article-title":"Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation","volume":"40","author":"McCarthy","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.isci.2024.109357_bib79","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1006583","article-title":"Deepbinner: Demultiplexing barcoded Oxford Nanopore reads with deep convolutional neural networks","volume":"14","author":"Wick","year":"2018","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.isci.2024.109357_bib80","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s00412-006-0080-6","article-title":"Hybridization analysis of D4Z4 repeat arrays linked to FSHD","volume":"116","author":"Ehrlich","year":"2007","journal-title":"Chromosoma"},{"key":"10.1016\/j.isci.2024.109357_bib81","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/gt.2011.44","article-title":"CDK4 and cyclin D1 allow human myogenic cells to recapture growth property without compromising differentiation potential","volume":"18","author":"Shiomi","year":"2011","journal-title":"Gene Ther."},{"key":"10.1016\/j.isci.2024.109357_bib82","first-page":"e158","article-title":"Single-nucleus RNA-seq of differentiating human myoblasts reveals the extent of fate heterogeneity","volume":"44","author":"Zeng","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.isci.2024.109357_bib83","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1126\/science.abj6987","article-title":"The complete sequence of a human genome","volume":"376","author":"Nurk","year":"2022","journal-title":"Science"},{"key":"10.1016\/j.isci.2024.109357_bib84","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1126\/science.1247005","article-title":"Genome-scale CRISPR-Cas9 knockout screening in human cells","volume":"343","author":"Shalem","year":"2014","journal-title":"Science"}],"container-title":["iScience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004224005789?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589004224005789?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:42:17Z","timestamp":1783384937000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589004224005789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":84,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["S2589004224005789"],"URL":"https:\/\/doi.org\/10.1016\/j.isci.2024.109357","relation":{},"ISSN":["2589-0042"],"issn-type":[{"value":"2589-0042","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation","name":"articletitle","label":"Article Title"},{"value":"iScience","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.isci.2024.109357","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors.","name":"copyright","label":"Copyright"}],"article-number":"109357"}}