{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:15:42Z","timestamp":1791342942700,"version":"4.3.1"},"reference-count":37,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T00:00:00Z","timestamp":1450828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0145284","type":"journal-article","created":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T13:48:15Z","timestamp":1450878495000},"page":"e0145284","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":115,"title":["Prevalence of Titin Truncating Variants in General Population"],"prefix":"10.1371","volume":"10","author":[{"given":"Oyediran","family":"Akinrinade","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha W.","family":"Koskenvuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tero-Pekka","family":"Alastalo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,12,23]]},"reference":[{"issue":"2","key":"ref1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1006\/bbrc.2002.6448","article-title":"Titin mutations as the molecular basis for dilated cardiomyopathy","volume":"291","author":"M Itoh-Satoh","year":"2002","journal-title":"Biochemical and biophysical research communications"},{"issue":"6","key":"ref2","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1007\/s00109-006-0060-6","article-title":"Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy","volume":"84","author":"B Gerull","year":"2006","journal-title":"Journal of molecular medicine"},{"issue":"6\u20138","key":"ref3","first-page":"367","article-title":"Functional analysis of titin\/connectin N2-B mutations found in cardiomyopathy","volume":"26","author":"Y Matsumoto","year":"2005","journal-title":"Journal of muscle research and cell motility"},{"issue":"2","key":"ref4","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1006\/bbrc.1999.1221","article-title":"Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene","volume":"262","author":"M Satoh","year":"1999","journal-title":"Biochemical and biophysical research communications"},{"issue":"8","key":"ref5","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1161\/CIRCULATIONAHA.110.005405","article-title":"Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes","volume":"124","author":"M Taylor","year":"2011","journal-title":"Circulation"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.21089","article-title":"C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy","volume":"61","author":"V Carmignac","year":"2007","journal-title":"Annals of neurology"},{"issue":"11","key":"ref7","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/j.amjcard.2012.01.392","article-title":"A novel titin mutation in adult-onset familial dilated cardiomyopathy","volume":"109","author":"G Yoskovitz","year":"2012","journal-title":"The American journal of cardiology"},{"issue":"2","key":"ref8","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/ng815","article-title":"Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy","volume":"30","author":"B Gerull","year":"2002","journal-title":"Nature genetics"},{"issue":"7","key":"ref9","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy","volume":"366","author":"DS Herman","year":"2012","journal-title":"The New England journal of medicine"},{"issue":"270","key":"ref10","doi-asserted-by":"crossref","first-page":"270ra6","DOI":"10.1126\/scitranslmed.3010134","article-title":"Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease","volume":"7","author":"AM Roberts","year":"2015","journal-title":"Science translational medicine"},{"key":"ref11","article-title":"Genetics and Genotype-Phenotype Correlations in Finnish Patients with Dilated Cardiomyopathy European heart journal","author":"O Akinrinade","year":"2015"},{"issue":"32","key":"ref12","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1093\/eurheartj\/ehu050","article-title":"Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy","volume":"35","author":"KY van Spaendonck-Zwarts","year":"2014","journal-title":"European heart journal"},{"issue":"8","key":"ref13","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1038\/gim.2013.204","article-title":"The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genetics in medicine: official journal of the","volume":"16","author":"TJ Pugh","year":"2014","journal-title":"American College of Medical Genetics"},{"key":"ref14","article-title":"Atlas of the clinical genetics of human dilated cardiomyopathy","author":"J Haas","year":"2014","journal-title":"European heart journal"},{"key":"ref15","first-page":"20142014","article-title":"Truncating Mutations in Titin Associated with Left Ventricular Noncompaction in Two Unrelated Families","volume":"9","author":"Arscott M Patricia","year":"2014","journal-title":"Heart Rhythm"},{"issue":"7319","key":"ref16","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing","volume":"467","author":"GR Abecasis","year":"2010","journal-title":"Nature"},{"key":"ref17","unstructured":"NHLBI. Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA. Available: <underline><ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/evs.gs.washington.edu\/EVS\/\" xlink:type=\"simple\">http:\/\/evs.gs.washington.edu\/EVS\/<\/ext-link><\/underline>. Accessed 15 January 2015."},{"issue":"4","key":"ref18","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1161\/CIRCGENETICS.112.962928","article-title":"Population-based variation in cardiomyopathy genes","volume":"5","author":"JR Golbus","year":"2012","journal-title":"Circulation Cardiovascular genetics"},{"key":"ref19","unstructured":"ExAC. Exome Aggregation Consortium (ExAC), Cambridge, MA. Available: <underline><ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"http:\/\/exac.broadinstitute.org\" xlink:type=\"simple\">http:\/\/exac.broadinstitute.org<\/ext-link><\/underline>. Accessed 15 January 2015."},{"issue":"2","key":"ref20","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1038\/sj.bjc.6601894","article-title":"The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website","volume":"91","author":"S Bamford","year":"2004","journal-title":"British journal of cancer"},{"issue":"6","key":"ref21","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1161\/CIRCGENETICS.112.963421","article-title":"Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation","volume":"5","author":"S Pan","year":"2012","journal-title":"Circulation Cardiovascular genetics"},{"issue":"7422","key":"ref22","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"GR Abecasis","year":"2012","journal-title":"Nature"},{"issue":"4974","key":"ref23","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1126\/science.1697983","article-title":"5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes","volume":"249","author":"WM Rideout 3rd","year":"1990","journal-title":"Science"},{"issue":"1","key":"ref24","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/(SICI)1098-1004(1996)8:1<23::AID-HUMU3>3.0.CO;2-Q","article-title":"Single base-pair substitutions in pathology and evolution: two sides to the same coin","volume":"8","author":"M Krawczak","year":"1996","journal-title":"Hum Mutat"},{"issue":"6","key":"ref25","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1186\/1479-7364-4-6-406","article-title":"Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides","volume":"4","author":"DN Cooper","year":"2010","journal-title":"Human genomics"},{"issue":"22","key":"ref26","doi-asserted-by":"crossref","first-page":"2411","DOI":"10.1161\/CIRCULATIONAHA.111.040071","article-title":"Distinct epigenomic features in end-stage failing human hearts","volume":"124","author":"M Movassagh","year":"2011","journal-title":"Circulation"},{"issue":"3","key":"ref27","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/emmm.201201553","article-title":"Alterations in cardiac DNA methylation in human dilated cardiomyopathy","volume":"5","author":"J Haas","year":"2013","journal-title":"EMBO molecular medicine"},{"issue":"2","key":"ref28","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/em.20596","article-title":"Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene","volume":"52","author":"KM Meurs","year":"2011","journal-title":"Environmental and molecular mutagenesis"},{"issue":"14","key":"ref29","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1212\/WNL.0b013e3182a6ca62","article-title":"Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy","volume":"81","author":"O Ceyhan-Birsoy","year":"2013","journal-title":"Neurology"},{"issue":"3","key":"ref30","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1086\/342380","article-title":"Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin","volume":"71","author":"P Hackman","year":"2002","journal-title":"American journal of human genetics"},{"issue":"4","key":"ref31","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1212\/01.WNL.0000151853.50144.82","article-title":"Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J","volume":"64","author":"B Udd","year":"2005","journal-title":"Neurology"},{"issue":"12","key":"ref32","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.nmd.2008.07.010","article-title":"Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)","volume":"18","author":"P Hackman","year":"2008","journal-title":"Neuromuscular disorders: NMD"},{"issue":"4","key":"ref33","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1093\/hmg\/ddt494","article-title":"Recessive TTN truncating mutations define novel forms of core myopathy with heart disease","volume":"23","author":"C Chauveau","year":"2014","journal-title":"Human molecular genetics"},{"issue":"2","key":"ref34","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1002\/ana.24102","article-title":"Atypical phenotypes in titinopathies explained by second titin mutations","volume":"75","author":"A Evila","year":"2014","journal-title":"Annals of neurology"},{"issue":"10","key":"ref35","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1001\/jama.2014.1717","article-title":"Clinical interpretation and implications of whole-genome sequencing","volume":"311","author":"FE Dewey","year":"2014","journal-title":"Jama"},{"issue":"3","key":"ref36","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/gm432","article-title":"Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing","volume":"5","author":"J O'Rawe","year":"2013","journal-title":"Genome medicine"},{"issue":"7","key":"ref37","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/gim.2013.183","article-title":"Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory","volume":"16","author":"SP Strom","year":"2014","journal-title":"Genetics in medicine: official journal of the American College of Medical Genetics"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0145284","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,2]],"date-time":"2019-09-02T18:32:28Z","timestamp":1567449148000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0145284"}},"subtitle":[],"editor":[{"given":"Ralf","family":"Krahe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,12,23]]},"references-count":37,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2015,12,23]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0145284","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,23]]}}}