{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:00:23Z","timestamp":1790816423643,"version":"4.1.0"},"reference-count":34,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"FP7 EU BIO-NMD","award":["241665"],"award-info":[{"award-number":["241665"]}]},{"name":"Emilia Romagna Region RARER"},{"DOI":"10.13039\/501100005969","name":"University of Bologna","doi-asserted-by":"publisher","award":["RFO2011-2013"],"award-info":[{"award-number":["RFO2011-2013"]}],"id":[{"id":"10.13039\/501100005969","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.bbagrm.2017.08.010","type":"journal-article","created":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T23:02:32Z","timestamp":1504306952000},"page":"1138-1147","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"title":["Transcriptional and epigenetic analyses of the DMD locus reveal novel cis\u2011acting DNA elements that govern muscle dystrophin expression"],"prefix":"10.1016","volume":"1860","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8101-7100","authenticated-orcid":false,"given":"Samuele","family":"Gherardi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9937-009X","authenticated-orcid":false,"given":"Matteo","family":"Bovolenta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Passarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Sofia","family":"Falzarano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Pigini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Scotton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2918-5996","authenticated-orcid":false,"given":"Annarita","family":"Armaroli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Osman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3099-0100","authenticated-orcid":false,"given":"Rita","family":"Selvatici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Gualandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Recchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Mora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pia","family":"Bernasconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Maggi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Morandi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Ferlini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Perini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.bbagrm.2017.08.010_bb0005","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S1474-4422(03)00585-4","article-title":"Dystrophin and mutations: one gene, several proteins, multiple phenotypes","volume":"2","author":"Muntoni","year":"2003","journal-title":"Lancet Neurol."},{"issue":"1","key":"10.1016\/j.bbagrm.2017.08.010_bb0010","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2012.09.002","article-title":"The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice","volume":"23","author":"Ferlini","year":"2013","journal-title":"Neuromuscul. Disord."},{"issue":"5","key":"10.1016\/j.bbagrm.2017.08.010_bb0015","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1101\/gr.776503","article-title":"Comparative analysis of vertebrate dystrophin loci indicate intron gigantism as a common feature","volume":"13","author":"Pozzoli","year":"2003","journal-title":"Genome Res."},{"issue":"3","key":"10.1016\/j.bbagrm.2017.08.010_bb0020","doi-asserted-by":"crossref","first-page":"152","DOI":"10.2174\/156652312800840621","article-title":"Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges","volume":"12","author":"Arechavala-Gomeza","year":"2012","journal-title":"Curr. Gene. Ther."},{"issue":"4","key":"10.1016\/j.bbagrm.2017.08.010_bb0025","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/mus.24332","article-title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","volume":"50","author":"Bushby","year":"2014","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.bbagrm.2017.08.010_bb0030","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1038\/ng0295-184","article-title":"The human dystrophin gene requires 16h to be transcribed and is cotranscriptionally spliced","volume":"9","author":"Tennyson","year":"1995","journal-title":"Nat. Genet."},{"issue":"23","key":"10.1016\/j.bbagrm.2017.08.010_bb0035","doi-asserted-by":"crossref","first-page":"2627","DOI":"10.1093\/hmg\/10.23.2627","article-title":"Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy","volume":"10","author":"Bastianutto","year":"2001","journal-title":"Hum. Mol. Genet."},{"issue":"10","key":"10.1016\/j.bbagrm.2017.08.010_bb0040","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1093\/hmg\/5.10.1599","article-title":"Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene","volume":"5","author":"Klamut","year":"1996","journal-title":"Hum. Mol. Genet."},{"issue":"22","key":"10.1016\/j.bbagrm.2017.08.010_bb0045","doi-asserted-by":"crossref","first-page":"2853","DOI":"10.1093\/hmg\/ddh305","article-title":"The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice","volume":"13","author":"De Repentigny","year":"2004","journal-title":"Hum. Mol. Genet."},{"issue":"8","key":"10.1016\/j.bbagrm.2017.08.010_bb0050","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1093\/nar\/25.8.1618","article-title":"A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1\/E box and MEF-2\/AT-rich sequence motifs","volume":"25","author":"Klamut","year":"1997","journal-title":"Nucleic Acids Res."},{"issue":"23","key":"10.1016\/j.bbagrm.2017.08.010_bb0055","doi-asserted-by":"crossref","first-page":"20719","DOI":"10.1074\/jbc.M102100200","article-title":"The mouse dystrophin enhancer is regulated by MyoD, E-box-binding factors, and by the serum response factor","volume":"276","author":"Marshall","year":"2001","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.bbagrm.2017.08.010_bb0060","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/emmm.201100133","article-title":"miRNAs as serum biomarkers for Duchenne muscular dystrophy","volume":"3","author":"Cacchiarelli","year":"2011","journal-title":"EMBO Mol. Med."},{"issue":"9","key":"10.1016\/j.bbagrm.2017.08.010_bb0065","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0045328","article-title":"The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms","volume":"7","author":"Bovolenta","year":"2012","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.bbagrm.2017.08.010_bb0070","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1080\/15476286.2015.1125074","article-title":"Non-sequential and multi-step splicing of the dystrophin transcript","volume":"13","author":"Gazzoli","year":"2016","journal-title":"RNA Biol."},{"issue":"4","key":"10.1016\/j.bbagrm.2017.08.010_bb0075","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/j.molcel.2010.11.005","article-title":"Splicing-dependent RNA polymerase pausing in yeast","volume":"40","author":"Alexander","year":"2010","journal-title":"Mol. Cell"},{"issue":"1","key":"10.1016\/j.bbagrm.2017.08.010_bb0080","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/S1046-2023(02)00006-3","article-title":"Identification of unknown target genes of human transcription factors using chromatin immunoprecipitation","volume":"26","author":"Weinmann","year":"2002","journal-title":"Methods"},{"issue":"2","key":"10.1016\/j.bbagrm.2017.08.010_bb0085","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1158\/0008-5472.CAN-10-2627","article-title":"A SP1\/MIZ1\/MYCN repression complex recruits HDAC1 at the TRKA and p75NTR promoters and affects neuroblastoma malignancy by inhibiting the cell response to NGF","volume":"71","author":"Iraci","year":"2011","journal-title":"Cancer Res."},{"issue":"1","key":"10.1016\/j.bbagrm.2017.08.010_bb0090","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1001\/jamaneurol.2013.4908","article-title":"Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping","volume":"71","author":"Anthony","year":"2014","journal-title":"JAMA Neurol."},{"issue":"3","key":"10.1016\/j.bbagrm.2017.08.010_bb0095","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1002\/humu.22017","article-title":"Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array","volume":"33","author":"Bovolenta","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2017.08.010_bb0100","doi-asserted-by":"crossref","first-page":"183","DOI":"10.3389\/fonc.2013.00183","article-title":"Human rhabdomyosarcoma cell lines for rhabdomyosarcoma research: utility and pitfalls","volume":"3","author":"Hinson","year":"2013","journal-title":"Front. Oncol."},{"issue":"1","key":"10.1016\/j.bbagrm.2017.08.010_bb0105","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1002\/(SICI)1097-4652(199607)168:1<105::AID-JCP13>3.0.CO;2-6","article-title":"RNA polymerase II inhibitor, 5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole (DRB) causes erythroleukemic differentiation and transcriptional activation of erythroid genes","volume":"168","author":"Hensold","year":"1996","journal-title":"J. Cell. Physiol."},{"issue":"13","key":"10.1016\/j.bbagrm.2017.08.010_bb0110","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1093\/bioinformatics\/btu115","article-title":"LASAGNA-Search 2.0: integrated transcription factor binding site search and visualization in a browser","volume":"vol. 30","author":"Lee","year":"2014","journal-title":"Bioinformatics"},{"issue":"43","key":"10.1016\/j.bbagrm.2017.08.010_bb0115","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2017.08.010_bb0120","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.archoralbio.2012.12.002","article-title":"Bioinformatics and systems biology analysis of genes network involved in OLP (Oral Lichen Planus) pathogenesis","volume":"58","author":"Orlando","year":"2013","journal-title":"Arch. Oral Biol."},{"key":"10.1016\/j.bbagrm.2017.08.010_bb0125","article-title":"Ribosomal protein S4 is a transcription factor with properties remarkably similar to NusA, aprotein involved in both non-ribosomal and ribosomal RNA antitermination Gfh factors and NusA cooperate to stimulate transcriptional pausing and termination","author":"Agapov","year":"2017","journal-title":"FEBS Lett."},{"issue":"14","key":"10.1016\/j.bbagrm.2017.08.010_bb0130","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1093\/emboj\/20.14.3811","article-title":"Ribosomal protein S4 is a transcription factor with properties remarkably similar to NusA, a protein involved in both non-ribosomal and ribosomal RNA antitermination","volume":"20","author":"Torres","year":"2001","journal-title":"EMBO J."},{"issue":"4","key":"10.1016\/j.bbagrm.2017.08.010_bb0135","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1038\/nrg3682","article-title":"Transcriptional enhancers: from properties to genome-wide predictions","volume":"15","author":"Shlyueva","year":"2014","journal-title":"Nat. Rev. Genet."},{"issue":"Pt 12","key":"10.1016\/j.bbagrm.2017.08.010_bb0140","doi-asserted-by":"crossref","first-page":"3547","DOI":"10.1093\/brain\/awr291","article-title":"Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials","volume":"134","author":"Anthony","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.bbagrm.2017.08.010_bb0145","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.ceb.2017.03.002","article-title":"Pause &amp; go: from the discovery of RNA polymerase pausing to its functional implications","volume":"46","author":"Mayer","year":"2017","journal-title":"Curr. Opin. Cell Biol."},{"issue":"8","key":"10.1016\/j.bbagrm.2017.08.010_bb0150","doi-asserted-by":"crossref","first-page":"910","DOI":"10.15252\/embr.201540607","article-title":"G4-associated human diseases","volume":"16","author":"Maizels","year":"2015","journal-title":"EMBO Rep."},{"issue":"7531","key":"10.1016\/j.bbagrm.2017.08.010_bb0155","doi-asserted-by":"crossref","DOI":"10.1038\/nature13787","article-title":"R-loops induce repressive chromatin marks over mammalian gene terminators","volume":"516","author":"Skourti-Stathaki","year":"2014","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.bbagrm.2017.08.010_bb0160","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/nsmb1352","article-title":"RNA polymerase II pauses and associates with pre-mRNA processing factors at both ends of genes","volume":"15","author":"Glover-Cutter","year":"2008","journal-title":"Nat. Struct. Mol. Biol."},{"issue":"2","key":"10.1016\/j.bbagrm.2017.08.010_bb0165","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.molcel.2013.02.015","article-title":"Signaling pathways differentially affect RNA polymerase II initiation, pausing, and elongation rate in cells","volume":"50","author":"Danko","year":"2013","journal-title":"Mol. Cell"},{"issue":"3","key":"10.1016\/j.bbagrm.2017.08.010_bb0170","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1080\/15476286.2015.1125074","article-title":"Non-sequential and multi-step splicing of the dystrophin transcript","volume":"13","author":"Gazzoli","year":"2016","journal-title":"RNA Biol."}],"updated-by":[{"DOI":"10.1016\/j.bbagrm.2020.194646","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2020,11,1]],"date-time":"2020-11-01T00:00:00Z","timestamp":1604188800000}}],"container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939917301359?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939917301359?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:21:09Z","timestamp":1761744069000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1874939917301359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":34,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S1874939917301359"],"URL":"https:\/\/doi.org\/10.1016\/j.bbagrm.2017.08.010","relation":{},"ISSN":["1874-9399"],"issn-type":[{"value":"1874-9399","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transcriptional and epigenetic analyses of the DMD locus reveal novel cis\u2011acting DNA elements that govern muscle dystrophin expression","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbagrm.2017.08.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}