{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T12:37:09Z","timestamp":1788784629314,"version":"build-2803163510"},"reference-count":35,"publisher":"American Medical Association (AMA)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Cardiol"],"published-print":{"date-parts":[[2018,6,1]]},"DOI":"10.1001\/jamacardio.2018.0618","type":"journal-article","created":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T12:44:12Z","timestamp":1523450652000},"page":"481","source":"Crossref","is-referenced-by-count":40,"title":["Association of Cardiomyopathy With <i>MYBPC3<\/i> D389V and <i>MYBPC3<sup>\u039425bp<\/sup><\/i>Intronic Deletion in South Asian Descendants"],"prefix":"10.1001","volume":"3","author":[{"given":"Shiv Kumar","family":"Viswanathan","sequence":"first","affiliation":[{"name":"Heart, Lung and Vascular Institute, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio"},{"name":"Department of Cell and Molecular Physiology, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan J.","family":"Puckelwartz","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Northwestern University, Chicago, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Mehta","sequence":"additional","affiliation":[{"name":"National Heart Research Institute Singapore"},{"name":"Cardiovascular Academic Clinical Program, DUKE-NUS Medical School, Singapore"},{"name":"PSC and Phenotyping Laboratory, Victor Chang Cardiac Research Institute, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chrishan J. A.","family":"Ramachandra","sequence":"additional","affiliation":[{"name":"National Heart Research Institute Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravindakshan","family":"Jagadeesan","sequence":"additional","affiliation":[{"name":"Department of Cell and Molecular Physiology, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Fritsche-Danielson","sequence":"additional","affiliation":[{"name":"Cardiovascular and Metabolic Disease Innovative Medicines and Early Development Unit, AstraZeneca Research and Development, Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratan V.","family":"Bhat","sequence":"additional","affiliation":[{"name":"Cardiovascular and Metabolic Disease Innovative Medicines and Early Development Unit, AstraZeneca Research and Development, Gothenburg, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Wong","sequence":"additional","affiliation":[{"name":"National Heart Research Institute Singapore"},{"name":"Cardiovascular and Metabolic Disorders Program, DUKE-NUS Medical School, Singapore"},{"name":"Department of Cardiology, National Heart Centre Singapore, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangeetha","family":"Kandoi","sequence":"additional","affiliation":[{"name":"Heart, Lung and Vascular Institute, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio"},{"name":"Department of Cell and Molecular Physiology, Loyola University Chicago, Maywood, Illinois"},{"name":"Department of Biotechnology, Indian Institute of Technology Madras, Chennai, Tamilnadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Schwanekamp","sequence":"additional","affiliation":[{"name":"Heart, Lung and Vascular Institute, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gina","family":"Kuffel","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo L.","family":"Pesce","sequence":"additional","affiliation":[{"name":"Computation Institute, The University of Chicago, Chicago, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Zilliox","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U. Nalla B.","family":"Durai","sequence":"additional","affiliation":[{"name":"Divison of Hematology and Oncology, University of Illinois at Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rama Shanker","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Indian Institute of Technology Madras, Chennai, Tamilnadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Molokie","sequence":"additional","affiliation":[{"name":"Divison of Hematology and Oncology, University of Illinois at Chicago"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domodhar P.","family":"Suresh","sequence":"additional","affiliation":[{"name":"St Elizabeth Physicians Heart and Vascular, Florence, Kentucky"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip R.","family":"Khoury","sequence":"additional","affiliation":[{"name":"Heart Institute, Cincinnati Children\u2019s Hospital, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"Thomas","sequence":"additional","affiliation":[{"name":"Marcella Niehoff School of Nursing, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thriveni","family":"Sanagala","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Echocardiography and Cardiographics, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hak Chiaw","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, National Heart Centre Singapore, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard C.","family":"Becker","sequence":"additional","affiliation":[{"name":"Heart, Lung and Vascular Institute, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Kn\u00f6ll","sequence":"additional","affiliation":[{"name":"Cardiovascular and Metabolic Disease Innovative Medicines and Early Development Unit, AstraZeneca Research and Development, Gothenburg, Sweden"},{"name":"Integrated Cardio-Metabolic Centre, Myocardial Genetics, Karolinska Institutet, University Hospital, Heart and Vascular Theme, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winston","family":"Shim","sequence":"additional","affiliation":[{"name":"National Heart Research Institute Singapore"},{"name":"Cardiovascular and Metabolic Disorders Program, DUKE-NUS Medical School, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth M.","family":"McNally","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine, Northwestern University, Chicago, Illinois"},{"name":"Associate Editor for Translational Science, JAMA Cardiology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sakthivel","family":"Sadayappan","sequence":"additional","affiliation":[{"name":"Heart, Lung and Vascular Institute, Department of Internal Medicine, University of Cincinnati, Cincinnati, Ohio"},{"name":"Department of Cell and Molecular Physiology, Loyola University Chicago, Maywood, Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"1","key":"hoi180014r1","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.amjmed.2003.10.012","article-title":"Hypertrophic cardiomyopathy: an important global disease.","volume":"116","author":"Maron","year":"2004","journal-title":"Am J Med"},{"issue":"6","key":"hoi180014r2","doi-asserted-by":"publisher","first-page":"e153","DOI":"10.1016\/j.jtcvs.2011.10.020","article-title":"2011 ACCF\/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation\/American Heart Association Task Force on Practice Guidelines.","volume":"142","author":"Gersh","year":"2011","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"10","key":"hoi180014r3","doi-asserted-by":"publisher","first-page":"1308","DOI":"10.1001\/jama.287.10.1308","article-title":"Hypertrophic cardiomyopathy: a systematic review.","volume":"287","author":"Maron","year":"2002","journal-title":"JAMA"},{"issue":"17","key":"hoi180014r4","doi-asserted-by":"publisher","first-page":"2227","DOI":"10.1161\/01.CIR.0000066323.15244.54","article-title":"Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.","volume":"107","author":"Richard","year":"2003","journal-title":"Circulation"},{"issue":"1","key":"hoi180014r5","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.jsb.2010.12.003","article-title":"Binding of the N-terminal fragment C0-C2 of cardiac MyBP-C to cardiac F-actin.","volume":"174","author":"Kensler","year":"2011","journal-title":"J Struct Biol"},{"issue":"3","key":"hoi180014r6","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1006\/jmbi.1998.2522","article-title":"Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.","volume":"286","author":"Gruen","year":"1999","journal-title":"J Mol Biol"},{"issue":"45","key":"hoi180014r7","doi-asserted-by":"publisher","first-page":"16918","DOI":"10.1073\/pnas.0607069103","article-title":"Cardiac myosin binding protein C phosphorylation is cardioprotective.","volume":"103","author":"Sadayappan","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"hoi180014r8","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/S0022-2828(03)00050-6","article-title":"Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.","volume":"35","author":"Waldm\u00fcller","year":"2003","journal-title":"J Mol Cell Cardiol"},{"issue":"2","key":"hoi180014r9","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1038\/ng.309","article-title":"A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.","volume":"41","author":"Dhandapany","year":"2009","journal-title":"Nat Genet"},{"issue":"2","key":"hoi180014r10","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1007\/s00424-013-1417-7","article-title":"MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation.","volume":"466","author":"Kuster","year":"2014","journal-title":"Pflugers Arch"},{"issue":"9","key":"hoi180014r11","doi-asserted-by":"publisher","first-page":"e24123","DOI":"10.1371\/journal.pone.0024123","article-title":"Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.","volume":"6","author":"Srivastava","year":"2011","journal-title":"PLoS One"},{"issue":"2","key":"hoi180014r12","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/s12041-016-0623-4","article-title":"Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction.","volume":"95","author":"Kumar","year":"2016","journal-title":"J Genet"},{"issue":"1-2","key":"hoi180014r13","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1007\/s11010-011-1077-x","article-title":"A low prevalence of MYH7\/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.","volume":"360","author":"Bashyam","year":"2012","journal-title":"Mol Cell Biochem"},{"issue":"2","key":"hoi180014r14","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/S0828-282X(08)70568-3","article-title":"MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.","volume":"24","author":"Tanjore","year":"2008","journal-title":"Can J Cardiol"},{"key":"hoi180014r15","doi-asserted-by":"publisher","first-page":"499","DOI":"10.3389\/fphys.2016.00499","article-title":"Recent advances in the molecular genetics of familial hypertrophic cardiomyopathy in South Asian descendants.","volume":"7","author":"Kraker","year":"2016","journal-title":"Front Physiol"},{"issue":"11","key":"hoi180014r16","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.1093\/bioinformatics\/btu071","article-title":"Supercomputing for the parallelization of whole genome analysis.","volume":"30","author":"Puckelwartz","year":"2014","journal-title":"Bioinformatics"},{"issue":"2","key":"hoi180014r17","doi-asserted-by":"publisher","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly (Austin)"},{"issue":"7616","key":"hoi180014r18","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans.","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"2","key":"hoi180014r19","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1093\/toxsci\/kfs309","article-title":"Pharmacoelectrophysiology of viral-free induced pluripotent stem cell-derived human cardiomyocytes.","volume":"131","author":"Mehta","year":"2013","journal-title":"Toxicol Sci"},{"issue":"11","key":"hoi180014r20","doi-asserted-by":"publisher","first-page":"2394","DOI":"10.1016\/j.bbamcr.2014.06.011","article-title":"Phasic modulation of Wnt signaling enhances cardiac differentiation in human pluripotent stem cells by recapitulating developmental ontogeny.","volume":"1843","author":"Mehta","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"270","key":"hoi180014r21","doi-asserted-by":"publisher","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":"Roberts","year":"2015","journal-title":"Sci Transl Med"},{"issue":"4","key":"hoi180014r22","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1161\/CIRCGENETICS.112.962928","article-title":"Population-based variation in cardiomyopathy genes.","volume":"5","author":"Golbus","year":"2012","journal-title":"Circ Cardiovasc Genet"},{"issue":"7","key":"hoi180014r23","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1056\/NEJMoa1110186","article-title":"Truncations of titin causing dilated cardiomyopathy.","volume":"366","author":"Herman","year":"2012","journal-title":"N Engl J Med"},{"issue":"6","key":"hoi180014r24","doi-asserted-by":"publisher","first-page":"e0180064","DOI":"10.1371\/journal.pone.0180064","article-title":"MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.","volume":"12","author":"McNamara","year":"2017","journal-title":"PLoS One"},{"issue":"4","key":"hoi180014r25","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1001\/jamacardio.2016.5670","article-title":"The burden of early phenotypes and the influence of wall thickness in hypertrophic cardiomyopathy mutation carriers: findings from the HCMNet Study.","volume":"2","author":"Ho","year":"2017","journal-title":"JAMA Cardiol"},{"issue":"2","key":"hoi180014r26","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/ahg.2010.74.issue-2","article-title":"Limited distribution of a cardiomyopathy-associated variant in India.","volume":"74","author":"Simonson","year":"2010","journal-title":"Ann Hum Genet"},{"issue":"10","key":"hoi180014r27","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1136\/hrt.2007.127241","article-title":"Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.","volume":"94","author":"Zahka","year":"2008","journal-title":"Heart"},{"issue":"5","key":"hoi180014r28","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1161\/CIRCGENETICS.109.861955","article-title":"Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.","volume":"2","author":"Dellefave","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"issue":"7","key":"hoi180014r29","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.ejmg.2014.04.007","article-title":"Left ventricular noncompaction associated with a compound heterozygous MYBPC3 mutation.","volume":"57","author":"Finsterer","year":"2014","journal-title":"Eur J Med Genet"},{"issue":"7","key":"hoi180014r30","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1038\/ejhg.2014.211","article-title":"Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.","volume":"23","author":"Wessels","year":"2015","journal-title":"Eur J Hum Genet"},{"issue":"14","key":"hoi180014r31","doi-asserted-by":"publisher","first-page":"12650","DOI":"10.1074\/jbc.M110.156646","article-title":"Structure and interactions of myosin-binding protein C domain C0: cardiac-specific regulation of myosin at its neck?","volume":"286","author":"Ratti","year":"2011","journal-title":"J Biol Chem"},{"key":"hoi180014r32","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1186\/1532-429X-13-3","article-title":"Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness.","volume":"13","author":"R\u00fcssel","year":"2011","journal-title":"J Cardiovasc Magn Reson"},{"issue":"12","key":"hoi180014r33","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1093\/eurjhf\/hfr135","article-title":"Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction.","volume":"13","author":"Timmer","year":"2011","journal-title":"Eur J Heart Fail"},{"issue":"1","key":"hoi180014r34","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1007\/s10974-011-9281-6","article-title":"Myosin binding protein C: implications for signal-transduction.","volume":"33","author":"Kn\u00f6ll","year":"2012","journal-title":"J Muscle Res Cell Motil"},{"issue":"6273","key":"hoi180014r35","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1126\/science.aad3456","article-title":"A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.","volume":"351","author":"Green","year":"2016","journal-title":"Science"}],"container-title":["JAMA Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamacardiology\/fullarticle\/2678114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,6,20]],"date-time":"2018-06-20T15:22:15Z","timestamp":1529508135000},"score":1,"resource":{"primary":{"URL":"http:\/\/cardiology.jamanetwork.com\/article.aspx?doi=10.1001\/jamacardio.2018.0618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,1]]},"references-count":35,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamacardio.2018.0618","relation":{},"ISSN":["2380-6583"],"issn-type":[{"value":"2380-6583","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6,1]]}}}