{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T20:00:11Z","timestamp":1789070411381,"version":"build-2803163510"},"reference-count":25,"publisher":"Public Library of Science (PLoS)","issue":"9","license":[{"start":{"date-parts":[[2015,9,25]],"date-time":"2015-09-25T00:00:00Z","timestamp":1443139200000},"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.0138568","type":"journal-article","created":{"date-parts":[[2015,9,25]],"date-time":"2015-09-25T14:14:19Z","timestamp":1443190459000},"page":"e0138568","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":83,"title":["OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency"],"prefix":"10.1371","volume":"10","author":[{"given":"Steven","family":"Marston","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecile","family":"Montgiraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex B.","family":"Munster","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O\u2019Neal","family":"Copeland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onjee","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristobal","family":"dos Remedios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E.","family":"Messer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Ehler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Kn\u00f6ll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2015,9,25]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1161\/CIRCULATIONAHA.106.174287","article-title":"Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention","volume":"113","author":"BJ Maron","year":"2006","journal-title":"Circulation"},{"issue":"9","key":"ref2","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"RE Hershberger","year":"2013","journal-title":"Nat Rev Cardiol"},{"issue":"7","key":"ref3","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":"New Eng J Med"},{"issue":"270","key":"ref4","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":"Sci Transl Med"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1161\/CIRCHEARTFAILURE.108.818237","article-title":"Functional Analysis of a Unique Troponin C Mutation, Gly159Asp that Causes Familial Dilated Cardiomyopathy, Studied in Explanted Heart Muscle","volume":"2","author":"E Dyer","year":"2009","journal-title":"Circ Heart Fail"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ceb.2010.12.001","article-title":"The sarcomeric cytoskeleton: who picks up the strain?","volume":"23","author":"M Gautel","year":"2011","journal-title":"Current opinion in cell biology"},{"issue":"4","key":"ref7","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1152\/physrev.00017.2009","article-title":"Muscle giants: molecular scaffolds in sarcomerogenesis. OBSCURIN","volume":"89","author":"A Kontrogianni-Konstantopoulos","year":"2009","journal-title":"Physiol Rev"},{"issue":"Pt 11","key":"ref8","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1242\/jcs.028019","article-title":"Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies","volume":"121","author":"A Fukuzawa","year":"2008","journal-title":"J Cell Sci"},{"issue":"6\u20138","key":"ref9","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s10974-005-9025-6","article-title":"Complete human gene structure of obscurin: implications for isoform generation by differential splicing","volume":"26","author":"A Fukuzawa","year":"2006","journal-title":"Journal of muscle research and cell motility"},{"issue":"3","key":"ref10","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/j.bbrc.2003.09.035","article-title":"Rapid response of cardiac obscurin gene cluster to aortic stenosis: differential activation of Rho-GEF and MLCK and involvement in hypertrophic growth","volume":"310","author":"AB Borisov","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"issue":"Pt 15","key":"ref11","doi-asserted-by":"crossref","first-page":"2640","DOI":"10.1242\/jcs.046193","article-title":"Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum","volume":"122","author":"S Lange","year":"2009","journal-title":"Journal of cell science"},{"issue":"2","key":"ref12","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.bbrc.2007.07.183","article-title":"Structural analysis of obscurin gene in hypertrophic cardiomyopathy","volume":"362","author":"T Arimura","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"issue":"6","key":"ref13","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/iub.1157","article-title":"Obscurins: unassuming giants enter the spotlight","volume":"65","author":"NA Perry","year":"2013","journal-title":"IUBMB Life"},{"issue":"2","key":"ref14","doi-asserted-by":"crossref","first-page":"e88162","DOI":"10.1371\/journal.pone.0088162","article-title":"Obscurins: Goliaths and Davids Take over Non-Muscle Tissues","volume":"9","author":"MA Ackermann","year":"2014","journal-title":"PloS one"},{"issue":"1","key":"ref15","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.yjmcc.2006.08.017","article-title":"Troponin phosphorylation and regulatory function in human heart muscle: Dephosphorylation of Ser23\/24 on troponin I could account for the contractile defect in end-stage heart failure","volume":"42","author":"AE Messer","year":"2007","journal-title":"J Mol Cell Cardiol"},{"issue":"4","key":"ref16","first-page":"500","article-title":"Myofibrillar Ca2+-Sensitivity Is Uncoupled From Troponin I Phosphorylation In Hypertrophic Obstructive Cardiomyopathy Due To Abnormal Troponin T","volume":"97","author":"CR Bayliss","year":"2012","journal-title":"Cardiovasc Res"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1161\/CIRCULATIONAHA.107.689984","article-title":"Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells","volume":"116","author":"R Knoell","year":"2007","journal-title":"Circulation"},{"issue":"1","key":"ref18","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1093\/cvr\/cvt071","article-title":"Mutations in thin Filament Proteins that Cause Familial Dilated Cardiomyopathy Uncouple Troponin I Phosphorylation from Changes in Myofibrillar Ca2+-Sensitivity","volume":"99","author":"M Memo","year":"2013","journal-title":"Cardiovasc Res"},{"issue":"8","key":"ref19","doi-asserted-by":"crossref","first-page":"3545","DOI":"10.1158\/0008-5472.CAN-07-0065","article-title":"Novel somatic and germline mutations in cancer candidate genes in glioblastoma, melanoma, and pancreatic carcinoma","volume":"67","author":"A Balakrishnan","year":"2007","journal-title":"Cancer Res"},{"issue":"5","key":"ref20","first-page":"428","article-title":"Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia\/Cardiomyopathy","volume":"2","author":"AD den Haan","year":"2009","journal-title":"Circulation: Cardiovascular Genetics"},{"issue":"4","key":"ref21","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1093\/cvr\/cvr142","article-title":"A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization","volume":"91","author":"S Marangoni","year":"2011","journal-title":"Cardiovasc Res"},{"issue":"1","key":"ref22","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10974-011-9268-3","article-title":"How do MYBPC3 mutations cause hypertrophic cardiomyopathy?","volume":"33","author":"S Marston","year":"2012","journal-title":"Journal of muscle research and cell motility"},{"issue":"3","key":"ref23","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1161\/CIRCRESAHA.109.202440","article-title":"Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency","volume":"105","author":"S Marston","year":"2009","journal-title":"Circ Res"},{"issue":"1","key":"ref24","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/s00395-011-0235-3","article-title":"Defective proteolytic systems in Mybpc3-targeted mice with cardiac hypertrophy","volume":"107","author":"S Schlossarek","year":"2012","journal-title":"Basic Res Cardiol"},{"issue":"3","key":"ref25","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1091\/mbc.E02-07-0411","article-title":"Obscurin is a ligand for small ankyrin 1 in skeletal muscle","volume":"14","author":"A Kontrogianni-Konstantopoulos","year":"2003","journal-title":"Mol Biol Cell"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0138568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T21:50:35Z","timestamp":1540331435000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0138568"}},"subtitle":[],"editor":[{"given":"Kumarasamy","family":"Thangaraj","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2015,9,25]]},"references-count":25,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2015,9,25]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0138568","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,25]]}}}