{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:21:31Z","timestamp":1787008891663,"version":"build-2736575974"},"reference-count":72,"publisher":"Oxford University Press (OUP)","issue":"14","license":[{"start":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T00:00:00Z","timestamp":1585872000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FSHD Society","award":["FSHS-82016-03"],"award-info":[{"award-number":["FSHS-82016-03"]}]},{"name":"FSHD Society","award":["FSHS-82017-05"],"award-info":[{"award-number":["FSHS-82017-05"]}]},{"DOI":"10.13039\/501100000618","name":"Foulkes Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000618","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["RA3\/3052"],"award-info":[{"award-number":["RA3\/3052"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/P023215\/1"],"award-info":[{"award-number":["MR\/P023215\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S002472\/1"],"award-info":[{"award-number":["MR\/S002472\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FSHD Society Shack Family and Friends","award":["FSHS-82013-06"],"award-info":[{"award-number":["FSHS-82013-06"]}]},{"DOI":"10.13039\/100013465","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["AFM 17865"],"award-info":[{"award-number":["AFM 17865"]}],"id":[{"id":"10.13039\/100013465","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disorder linked to ectopic expression of DUX4. However, DUX4 is notoriously difficult to detect in FSHD muscle cells, while DUX4 target gene expression is an inconsistent biomarker for FSHD skeletal muscle biopsies, displaying efficacy only on pathologically inflamed samples. Immune gene misregulation occurs in FSHD muscle, with DUX4 target genes enriched for those associated with inflammatory processes. However, there lacks an assessment of the FSHD immune cell transcriptome, and its contribution to gene expression in FSHD muscle biopsies. Here, we show that EBV-immortalized FSHD lymphoblastoid cell lines express DUX4 and both early and late DUX4 target genes. Moreover, a biomarker of 237 up-regulated genes derived from FSHD lymphoblastoid cell lines is elevated in FSHD muscle biopsies compared to controls. The FSHD Lymphoblast score is unaltered between FSHD myoblasts\/myotubes and their controls however, implying a non-myogenic cell source in muscle biopsies. Indeed, the FSHD Lymphoblast score correlates with the early stages of muscle inflammation identified by histological analysis on muscle biopsies, while our two late DUX4 target gene expression biomarkers associate with macroscopic inflammation detectable via MRI. Thus, FSHD lymphoblastoid cell lines express DUX4 and early and late DUX4 target genes, therefore, muscle-infiltrated immune cells may contribute the molecular landscape of FSHD muscle biopsies.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa053","type":"journal-article","created":{"date-parts":[[2020,3,31]],"date-time":"2020-03-31T15:19:09Z","timestamp":1585667949000},"page":"2285-2299","source":"Crossref","is-referenced-by-count":29,"title":["DUX4 expressing immortalized FSHD lymphoblastoid cells express genes elevated in FSHD muscle biopsies, correlating with the early stages of inflammation"],"prefix":"10.1093","volume":"29","author":[{"given":"Christopher R S","family":"Banerji","sequence":"first","affiliation":[{"name":"King's College London, Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, London SE1 1UL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryna","family":"Panamarova","sequence":"additional","affiliation":[{"name":"King's College London, Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, London SE1 1UL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9562-3072","authenticated-orcid":false,"given":"Peter S","family":"Zammit","sequence":"additional","affiliation":[{"name":"King's College London, Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, London SE1 1UL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,4,2]]},"reference":[{"key":"2020081306364076000_ref1","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":"Neurology"},{"key":"2020081306364076000_ref2","volume-title":"Facioscapulohumeral disease","author":"Padberg","year":"1982"},{"key":"2020081306364076000_ref3","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s11910-016-0667-0","article-title":"Facioscapulohumeral dystrophy","volume":"16","author":"Wang","year":"2016","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"2020081306364076000_ref4","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.bbadis.2014.05.021","article-title":"Facioscapulohumeral muscular dystrophy","volume":"1852","author":"Sacconi","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"2020081306364076000_ref5","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1212\/WNL.43.2.345","article-title":"Extreme variability of expression in monozygotic twins with FSH muscular dystrophy","volume":"43","author":"Tawil","year":"1993","journal-title":"Neurology"},{"key":"2020081306364076000_ref6","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.nmd.2011.11.001","article-title":"Mutation spectrum and phenotypic manifestation in FSHD Greek patients","volume":"22","author":"Sakellariou","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"2020081306364076000_ref7","doi-asserted-by":"crossref","first-page":"e007798","DOI":"10.1136\/bmjopen-2015-007798","article-title":"Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry","volume":"6","author":"Nikolic","year":"2016","journal-title":"BMJ Open"},{"issue":"Pt 3","key":"2020081306364076000_ref8","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/brain\/110.3.631","article-title":"Retinal vascular abnormalities in facioscapulohumeral muscular dystrophy. A general association with genetic and therapeutic implications","volume":"110","author":"Fitzsimons","year":"1987","journal-title":"Brain"},{"key":"2020081306364076000_ref9","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.nmd.2011.02.002","article-title":"Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?","volume":"21","author":"Fitzsimons","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"2020081306364076000_ref10","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.jaapos.2010.03.006","article-title":"Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity","volume":"14","author":"Longmuir","year":"2010","journal-title":"J. AAPOS"},{"key":"2020081306364076000_ref11","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1212\/WNL.0b013e3182a84140","article-title":"Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy","volume":"81","author":"Lutz","year":"2013","journal-title":"Neurology"},{"key":"2020081306364076000_ref12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000094248","article-title":"Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia","volume":"56","author":"Trevisan","year":"2006","journal-title":"Eur. Neurol."},{"key":"2020081306364076000_ref13","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":"2020081306364076000_ref14","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1146\/annurev-genom-083118-014933","article-title":"The genetics and epigenetics of Facioscapulohumeral muscular dystrophy","volume":"20","author":"Himeda","year":"2019","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"2020081306364076000_ref15","doi-asserted-by":"crossref","first-page":"2037","DOI":"10.1093\/hmg\/2.12.2037","article-title":"FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit","volume":"2","author":"Deutekom","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref16","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":"Overveld","year":"2003","journal-title":"Nat. Genet."},{"key":"2020081306364076000_ref17","first-page":"411","article-title":"Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter","volume":"51","author":"Wijmenga","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"2020081306364076000_ref18","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":"2020081306364076000_ref19","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of Facioscapulohumeral dystrophy","volume":"98","author":"Boogaard","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2020081306364076000_ref20","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1093\/hmg\/3.8.1287","article-title":"Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy","volume":"3","author":"Hewitt","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref21","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":"Gabriels","year":"1999","journal-title":"Gene"},{"key":"2020081306364076000_ref22","doi-asserted-by":"crossref","first-page":"18157","DOI":"10.1073\/pnas.0708659104","article-title":"DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1","volume":"104","author":"Dixit","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2020081306364076000_ref23","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1136\/jmg.33.5.366","article-title":"Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy","volume":"33","author":"Tupler","year":"1996","journal-title":"J. Med. Genet."},{"key":"2020081306364076000_ref24","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/j.1582-4934.2008.00368.x","article-title":"Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects","volume":"14","author":"Barro","year":"2010","journal-title":"J. Cell. Mol. Med."},{"key":"2020081306364076000_ref25","doi-asserted-by":"crossref","first-page":"e1000559","DOI":"10.1371\/journal.pgen.1000559","article-title":"Specific loss of histone H3 lysine 9 trimethylation and HP1gamma\/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)","volume":"5","author":"Zeng","year":"2009","journal-title":"PLoS Genet."},{"key":"2020081306364076000_ref26","doi-asserted-by":"crossref","first-page":"3816","DOI":"10.1242\/jcs.180372","article-title":"DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis","volume":"129","author":"Knopp","year":"2016","journal-title":"J. Cell Sci."},{"key":"2020081306364076000_ref27","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":"2020081306364076000_ref28","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.nmd.2007.04.002","article-title":"The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein","volume":"17","author":"Kowaljow","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"2020081306364076000_ref29","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":"2020081306364076000_ref30","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":"2020081306364076000_ref31","doi-asserted-by":"crossref","first-page":"e1001181","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":"2020081306364076000_ref32","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1038\/s41467-017-01200-4","article-title":"PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle","volume":"8","author":"Banerji","year":"2017","journal-title":"Nat. Commun."},{"key":"2020081306364076000_ref33","doi-asserted-by":"crossref","first-page":"2224","DOI":"10.1093\/hmg\/ddz043","article-title":"PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref34","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1242\/jcs.205427","article-title":"The DUX4 homeodomains mediate inhibition of myogenesis and are functionally exchangeable with the Pax7 homeodomain","volume":"130","author":"Bosnakovski","year":"2017","journal-title":"J. Cell Sci."},{"key":"2020081306364076000_ref35","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10875-010-9474-6","article-title":"CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI","volume":"31","author":"Frisullo","year":"2011","journal-title":"J. Clin. Immunol."},{"key":"2020081306364076000_ref36","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1212\/WNL.22.4.335","article-title":"Inflammatory myopathy with facioscapulohumeral distribution","volume":"22","author":"Munsat","year":"1972","journal-title":"Neurology"},{"key":"2020081306364076000_ref37","first-page":"100","article-title":"Immunocytochemical study of the inflammatory forms of facioscapulohumeral myopathies and correlation with other types of myositis","volume":"9","author":"Figarella-Branger","year":"1989","journal-title":"Ann. Pathol."},{"issue":"Suppl. 2","key":"2020081306364076000_ref38","doi-asserted-by":"crossref","first-page":"S56","DOI":"10.1002\/mus.880181312","article-title":"Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses","volume":"18","author":"Arahata","year":"1995","journal-title":"Muscle Nerve"},{"key":"2020081306364076000_ref39","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1016\/j.freeradbiomed.2012.06.041","article-title":"Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction","volume":"53","author":"Turki","year":"2012","journal-title":"Free Radic. Biol. Med."},{"key":"2020081306364076000_ref40","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1093\/hmg\/ddy400","article-title":"Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development","volume":"28","author":"Heuvel","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref41","first-page":"376","article-title":"A clinically homogeneous group of families with facioscapulohumeral (Landouzy-Dejerine) muscular dystrophy: linkage analysis of six autosomes","volume":"47","author":"Jacobsen","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"2020081306364076000_ref42","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.nmd.2016.12.007","article-title":"Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy","volume":"27","author":"Jones","year":"2017","journal-title":"Neuromuscul. Disord."},{"key":"2020081306364076000_ref43","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/s41375-018-0093-1","article-title":"Structural basis of DUX4\/IGH-driven transactivation","volume":"32","author":"Dong","year":"2018","journal-title":"Leukemia"},{"key":"2020081306364076000_ref44","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.3535","article-title":"Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults","volume":"48","author":"Yasuda","year":"2016","journal-title":"Nat. Genet."},{"key":"2020081306364076000_ref45","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1093\/hmg\/ddy405","article-title":"Dynamic transcriptomic analysis reveals suppression of PGC1alpha\/ERRalpha drives perturbed myogenesis in facioscapulohumeral muscular dystrophy","volume":"28","author":"Banerji","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref46","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":"2020081306364076000_ref47","doi-asserted-by":"crossref","first-page":"5161","DOI":"10.1093\/nar\/gkw141","article-title":"DUX4 recruits p300\/CBP through its C-terminus and induces global H3K27 acetylation changes","volume":"44","author":"Choi","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"2020081306364076000_ref48","doi-asserted-by":"crossref","first-page":"e1003947","DOI":"10.1371\/journal.pgen.1003947","article-title":"DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis","volume":"9","author":"Young","year":"2013","journal-title":"PLoS Genet."},{"key":"2020081306364076000_ref49","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":"2020081306364076000_ref50","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":"2020081306364076000_ref51","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1212\/01.wnl.0000251269.31442.d9","article-title":"Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy","volume":"68","author":"Osborne","year":"2007","journal-title":"Neurology"},{"key":"2020081306364076000_ref52","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1093\/brain\/awl023","article-title":"Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration","volume":"129","author":"Bakay","year":"2006","journal-title":"Brain"},{"key":"2020081306364076000_ref53","doi-asserted-by":"crossref","first-page":"e38779","DOI":"10.1371\/journal.pone.0038779","article-title":"Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles","volume":"7","author":"Tasca","year":"2012","journal-title":"PLoS One"},{"key":"2020081306364076000_ref54","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1868-7083-6-23","article-title":"Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing","volume":"6","author":"Jones","year":"2014","journal-title":"Clin. Epigenetics"},{"key":"2020081306364076000_ref55","doi-asserted-by":"crossref","first-page":"291","DOI":"10.3233\/JND-150077","article-title":"Immunohistochemical characterization of Facioscapulohumeral muscular dystrophy muscle biopsies","volume":"2","author":"Statland","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"2020081306364076000_ref56","doi-asserted-by":"crossref","first-page":"16046","DOI":"10.1073\/pnas.1901314116","article-title":"Epstein-Barr virus reprograms human B lymphocytes immediately in the prelatent phase of infection","volume":"116","author":"Mrozek-Gorska","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"2020081306364076000_ref57","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1093\/hmg\/ddr041","article-title":"The effects of EBV transformation on gene expression levels and methylation profiles","volume":"20","author":"Caliskan","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2020081306364076000_ref58","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":"2020081306364076000_ref59","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1242\/dev.069088","article-title":"Satellite cells are essential for skeletal muscle regeneration: the cell on the edge returns Centre stage","volume":"139","author":"Relaix","year":"2012","journal-title":"Development"},{"key":"2020081306364076000_ref60","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1080\/15592294.2015.1113798","article-title":"Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4","volume":"10","author":"Balog","year":"2015","journal-title":"Epigenetics"},{"key":"2020081306364076000_ref61","doi-asserted-by":"crossref","first-page":"e26820","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":"2020081306364076000_ref62","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":"2020081306364076000_ref63","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.molmed.2015.02.011","article-title":"Emerging preclinical animal models for FSHD","volume":"21","author":"Lek","year":"2015","journal-title":"Trends Mol. Med."},{"key":"2020081306364076000_ref64","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/j.devcel.2019.06.011","article-title":"DUX4 suppresses MHC class I to promote cancer immune evasion and resistance to checkpoint blockade","volume":"50","author":"Chew","year":"2019","journal-title":"Dev. Cell"},{"key":"2020081306364076000_ref65","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1038\/mt.2012.68","article-title":"RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy","volume":"20","author":"Wallace","year":"2012","journal-title":"Mol. Ther."},{"key":"2020081306364076000_ref66","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.freeradbiomed.2016.08.007","article-title":"DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients","volume":"99","author":"Dmitriev","year":"2016","journal-title":"Free Radic. Biol. Med."},{"key":"2020081306364076000_ref67","doi-asserted-by":"crossref","first-page":"11837","DOI":"10.1074\/jbc.RA118.002633","article-title":"Protein kinase a activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy","volume":"293","author":"Cruz","year":"2018","journal-title":"J. Biol. Chem."},{"key":"2020081306364076000_ref68","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1212\/WNL.48.1.46","article-title":"A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group","volume":"48","author":"Tawil","year":"1997","journal-title":"Neurology"},{"key":"2020081306364076000_ref69","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/2044-5040-4-4","article-title":"High-throughput screening identifies inhibitors of DUX4-induced myoblast toxicity","volume":"4","author":"Bosnakovski","year":"2014","journal-title":"Skelet. Muscle"},{"key":"2020081306364076000_ref70","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-017-0134-x","article-title":"BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells","volume":"7","author":"Campbell","year":"2017","journal-title":"Skelet. Muscle"},{"key":"2020081306364076000_ref71","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"2020081306364076000_ref72","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/1471-2105-12-77","article-title":"pROC: an open-source package for R and S+ to analyze and compare ROC curves","volume":"12","author":"Robin","year":"2011","journal-title":"BMC Bioinformatics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa053\/33474317\/ddaa053.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/14\/2285\/33637656\/ddaa053.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/29\/14\/2285\/33637656\/ddaa053.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,8,14]],"date-time":"2020-08-14T00:06:50Z","timestamp":1597363610000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/14\/2285\/5815186"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,2]]},"references-count":72,"journal-issue":{"issue":"14","published-online":{"date-parts":[[2020,4,2]]},"published-print":{"date-parts":[[2020,8,11]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa053","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/717652","asserted-by":"object"}]},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,7,15]]},"published":{"date-parts":[[2020,4,2]]}}}