{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:50:41Z","timestamp":1791089441180,"version":"4.1.0"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,11,28]],"date-time":"2019-11-28T00:00:00Z","timestamp":1574899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["EBioMedicine"],"published-print":{"date-parts":[[2020,1]]},"DOI":"10.1016\/j.ebiom.2019.11.048","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T20:32:08Z","timestamp":1576614728000},"page":"102587","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"special_numbering":"C","title":["A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism"],"prefix":"10.1016","volume":"51","author":[{"given":"Peter","family":"Meinke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alastair R.W.","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafal","family":"Czapiewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose I.","family":"de las Heras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles R.","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Harris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedikt","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Wehnert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric C.","family":"Schirmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ebiom.2019.11.048_bib0001","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/0960-8966(94)00017-4","article-title":"The prevalence of inherited neuromuscular disease in Northern Ireland","volume":"6","author":"Hughes","year":"1996","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"10.1016\/j.ebiom.2019.11.048_bib0002","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"issue":"4","key":"10.1016\/j.ebiom.2019.11.048_bib0003","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/jnnp.29.4.338","article-title":"Unusual type of benign x-linked muscular dystrophy","volume":"29","author":"Emery","year":"1966","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"10","key":"10.1016\/j.ebiom.2019.11.048_bib0004","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1136\/jmg.26.10.637","article-title":"Emery-Dreifuss syndrome","volume":"26","author":"Emery","year":"1989","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.ebiom.2019.11.048_bib0005","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/ana.21839","article-title":"Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation","volume":"67","author":"Knoblauch","year":"2010","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.ebiom.2019.11.048_bib0006","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1002\/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J","article-title":"Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A\/C gene","volume":"48","author":"Bonne","year":"2000","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.ebiom.2019.11.048_bib0007","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione","year":"1994","journal-title":"Nat Genet"},{"issue":"3","key":"10.1016\/j.ebiom.2019.11.048_bib0008","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autosomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne","year":"1999","journal-title":"Nat Genet"},{"issue":"23","key":"10.1016\/j.ebiom.2019.11.048_bib0009","doi-asserted-by":"crossref","first-page":"2816","DOI":"10.1093\/hmg\/ddm238","article-title":"Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity","volume":"16","author":"Zhang","year":"2007","journal-title":"Hum Mol Genet"},{"issue":"9","key":"10.1016\/j.ebiom.2019.11.048_bib0010","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1004605","article-title":"Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization","volume":"10","author":"Meinke","year":"2014","journal-title":"PLoS Genet"},{"issue":"3","key":"10.1016\/j.ebiom.2019.11.048_bib0011","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.ajhg.2009.07.015","article-title":"Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy","volume":"85","author":"Gueneau","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.ebiom.2019.11.048_bib0012","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1093\/brain\/awl062","article-title":"Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins","volume":"129","author":"Muntoni","year":"2006","journal-title":"Brain"},{"key":"10.1016\/j.ebiom.2019.11.048_bib0013","series-title":"Molecular genetics of Emery\u2013Dreifuss muscular dystrophy","author":"Meinke","year":"2018"},{"issue":"5","key":"10.1016\/j.ebiom.2019.11.048_bib0014","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1097\/WCO.0000000000000359","article-title":"The increasing relevance of nuclear envelope myopathies","volume":"29","author":"Meinke","year":"2016","journal-title":"Curr Opin Neurol"},{"issue":"10","key":"10.1016\/j.ebiom.2019.11.048_bib0015","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1074\/mcp.R600003-MCP200","article-title":"Guilt by association: the nuclear envelope proteome and disease","volume":"5","author":"Wilkie","year":"2006","journal-title":"Mol Cell Proteomics"},{"issue":"1","key":"10.1016\/j.ebiom.2019.11.048_bib0016","doi-asserted-by":"crossref","DOI":"10.1074\/mcp.M110.003129","article-title":"Several novel nuclear envelope transmembrane proteins identified in skeletal muscle have cytoskeletal associations","volume":"10","author":"Wilkie","year":"2011","journal-title":"Mol Cell Proteomics"},{"key":"10.1016\/j.ebiom.2019.11.048_bib0017","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/978-1-4899-8032-8_23","article-title":"Connecting the nucleus to the cytoskeleton for nuclear positioning and cell migration","volume":"773","author":"Osorio","year":"2014","journal-title":"Adv Exp Med Biol"},{"issue":"6","key":"10.1016\/j.ebiom.2019.11.048_bib0018","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.molcel.2016.04.035","article-title":"Tissue-Specific gene repositioning by muscle nuclear membrane proteins enhances repression of critical developmental genes during myogenesis","volume":"62","author":"Robson","year":"2016","journal-title":"Mol Cell"},{"issue":"2","key":"10.1016\/j.ebiom.2019.11.048_bib0019","doi-asserted-by":"crossref","first-page":"R14","DOI":"10.1186\/gb-2013-14-2-r14","article-title":"Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery","volume":"14","author":"Zuleger","year":"2013","journal-title":"Genome Biol"},{"issue":"2","key":"10.1016\/j.ebiom.2019.11.048_bib0020","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1186\/gb-2013-14-2-r14","article-title":"Specific nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery","volume":"14","author":"Zuleger","year":"2013","journal-title":"Genome Biol"},{"issue":"9","key":"10.1016\/j.ebiom.2019.11.048_bib0021","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"issue":"5","key":"10.1016\/j.ebiom.2019.11.048_bib0022","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.ebiom.2019.11.048_bib0023","article-title":"From FastQ data to high confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr Protoc Bioinformatics"},{"key":"10.1016\/j.ebiom.2019.11.048_bib0024","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","author":"Karczewski","year":"2019","journal-title":"bioRxiv."},{"issue":"1","key":"10.1016\/j.ebiom.2019.11.048_bib0025","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"},{"issue":"16","key":"10.1016\/j.ebiom.2019.11.048_bib0026","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ebiom.2019.11.048_bib0027","doi-asserted-by":"crossref","first-page":"W187","DOI":"10.1093\/nar\/gku365","article-title":"deepTools: a flexible platform for exploring deep-sequencing data","volume":"42","author":"Ramirez","year":"2014","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.ebiom.2019.11.048_bib0028","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1086\/374176","article-title":"Rapid direct sequence analysis of the dystrophin gene","volume":"72","author":"Flanigan","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"6","key":"10.1016\/j.ebiom.2019.11.048_bib0029","doi-asserted-by":"crossref","first-page":"552","DOI":"10.4161\/nucl.22257","article-title":"The nuclear envelope proteome differs notably between tissues","volume":"3","author":"Korfali","year":"2012","journal-title":"Nucleus"},{"issue":"8","key":"10.1016\/j.ebiom.2019.11.048_bib0030","doi-asserted-by":"crossref","first-page":"e42522","DOI":"10.1371\/journal.pone.0042522","article-title":"Nuclear morphometric analysis (NMA): screening of senescence, apoptosis and nuclear irregularities","volume":"7","author":"Filippi-Chiela","year":"2012","journal-title":"PLoS ONE"},{"issue":"6","key":"10.1016\/j.ebiom.2019.11.048_bib0031","doi-asserted-by":"crossref","first-page":"3114","DOI":"10.1093\/nar\/gkv181","article-title":"Insulin-response epigenetic activation of Egr-1 and JunB genes at the nuclear periphery by A-type lamin-associated pY19-Caveolin-2 in the inner nuclear membrane","volume":"43","author":"Jeong","year":"2015","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"10.1016\/j.ebiom.2019.11.048_bib0032","doi-asserted-by":"crossref","first-page":"4598","DOI":"10.1073\/pnas.0730821100","article-title":"MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in caenorhabditis elegans","volume":"100","author":"Liu","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"10.1016\/j.ebiom.2019.11.048_bib0033","doi-asserted-by":"crossref","DOI":"10.3390\/cells7100170","article-title":"Samp1 mislocalization in Emery-Dreifuss muscular dystrophy","volume":"7","author":"Mattioli","year":"2018","journal-title":"Cells"},{"issue":"2","key":"10.1016\/j.ebiom.2019.11.048_bib0034","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1016\/j.yexcr.2004.11.020","article-title":"Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization","volume":"304","author":"Broers","year":"2005","journal-title":"Exp Cell Res"},{"issue":"5","key":"10.1016\/j.ebiom.2019.11.048_bib0035","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1083\/jcb.200502148","article-title":"Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells","volume":"170","author":"Lammerding","year":"2005","journal-title":"J Cell Biol"},{"issue":"12","key":"10.1016\/j.ebiom.2019.11.048_bib0036","doi-asserted-by":"crossref","first-page":"4649","DOI":"10.1529\/biophysj.106.086454","article-title":"Mechanical properties of the cell nucleus and the effect of emerin deficiency","volume":"91","author":"Rowat","year":"2006","journal-title":"Biophys J"},{"issue":"8","key":"10.1016\/j.ebiom.2019.11.048_bib0037","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1016\/j.yexcr.2008.02.018","article-title":"Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects","volume":"314","author":"Hakelien","year":"2008","journal-title":"Exp Cell Res"},{"issue":"30","key":"10.1016\/j.ebiom.2019.11.048_bib0038","doi-asserted-by":"crossref","first-page":"8897","DOI":"10.1021\/bi602636m","article-title":"An emerin \"proteome\": purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture","volume":"46","author":"Holaska","year":"2007","journal-title":"Biochemistry"},{"issue":"4","key":"10.1016\/j.ebiom.2019.11.048_bib0039","doi-asserted-by":"crossref","first-page":"497","DOI":"10.3233\/JND-160169","article-title":"FHL1B interacts with lamin A\/C and emerin at the nuclear lamina and is misregulated in Emery-Dreifuss muscular dystrophy","volume":"3","author":"Ziat","year":"2016","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.ebiom.2019.11.048_bib0040","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2007.09.004","article-title":"An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1","volume":"82","author":"Windpassinger","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"12","key":"10.1016\/j.ebiom.2019.11.048_bib0041","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1242\/jcs.047373","article-title":"An integral protein of the inner nuclear membrane localizes to the mitotic spindle in mammalian cells","volume":"122","author":"Buch","year":"2009","journal-title":"J Cell Sci"},{"issue":"22","key":"10.1016\/j.ebiom.2019.11.048_bib0042","doi-asserted-by":"crossref","first-page":"15581","DOI":"10.1074\/jbc.M112.435396","article-title":"Facilitated hyperpolarization signaling in vascular smooth muscle-overexpressing TRIC-A channels","volume":"288","author":"Tao","year":"2013","journal-title":"J Biol Chem"}],"container-title":["EBioMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396419307972?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396419307972?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T18:56:20Z","timestamp":1762455380000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352396419307972"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":42,"alternative-id":["S2352396419307972"],"URL":"https:\/\/doi.org\/10.1016\/j.ebiom.2019.11.048","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/705780","asserted-by":"object"}]},"ISSN":["2352-3964"],"issn-type":[{"value":"2352-3964","type":"print"}],"subject":[],"published":{"date-parts":[[2020,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism","name":"articletitle","label":"Article Title"},{"value":"EBioMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebiom.2019.11.048","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"102587"}}