{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:30:29Z","timestamp":1790101829102,"version":"4.0.1"},"reference-count":113,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2001,4,1]],"date-time":"2001-04-01T00:00:00Z","timestamp":986083200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Molecular and Cellular Cardiology"],"published-print":{"date-parts":[[2001,4]]},"DOI":"10.1006\/jmcc.2001.1340","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T18:06:17Z","timestamp":1032372377000},"page":"655-670","source":"Crossref","is-referenced-by-count":348,"title":["The Molecular Genetic Basis for Hypertrophic Cardiomyopathy"],"prefix":"10.1016","volume":"33","author":[{"given":"A.J.","family":"Marian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/jmcc.2001.1340_RF1","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1001\/jama.1996.03540030033028","article-title":"Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles","volume":"276","author":"Maron","year":"1996","journal-title":"JAMA"},{"key":"10.1006\/jmcc.2001.1340_RF2","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1161\/01.CIR.92.4.785","article-title":"Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults","volume":"92","author":"Maron","year":"1995","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF3","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0140-6736(97)01282-8","article-title":"Hypertrophic cardiomyopathy","volume":"350","author":"Maron","year":"1997","journal-title":"Lancet"},{"key":"10.1006\/jmcc.2001.1340_RF4","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1161\/01.CIR.92.9.2488","article-title":"Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990","volume":"92","author":"Cannan","year":"1995","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF5","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1161\/01.CIR.59.4.689","article-title":"Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum of patients with hypertrophic cardiomyopathy","volume":"59","author":"Maron","year":"1979","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF6","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/S0735-1097(99)00492-1","article-title":"Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death","volume":"35","author":"Shirani","year":"2000","journal-title":"J Am Coll Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF7","doi-asserted-by":"crossref","first-page":"1778","DOI":"10.1056\/NEJM200006153422403","article-title":"Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy","volume":"342","author":"Spirito","year":"2000","journal-title":"N Engl J Med"},{"key":"10.1006\/jmcc.2001.1340_RF8","first-page":"1","article-title":"Genetics for Cardiologists, 1st Edition","author":"Marian","year":"2000","journal-title":"London: REMEDICA Publishing"},{"key":"10.1006\/jmcc.2001.1340_RF9","unstructured":"www.uwcm.ac.uk\/search\/mg\/allgenes, 2000"},{"key":"10.1006\/jmcc.2001.1340_RF10","doi-asserted-by":"crossref","first-page":"1372","DOI":"10.1056\/NEJM198911163212005","article-title":"Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1","volume":"321","author":"Jarcho","year":"1989","journal-title":"N Engl J Med"},{"key":"10.1006\/jmcc.2001.1340_RF11","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1016\/0092-8674(90)90274-I","article-title":"A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation","volume":"62","author":"Geisterfer-Lowrance","year":"1990","journal-title":"Cell"},{"key":"10.1006\/jmcc.2001.1340_RF12","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/0888-7543(90)90272-V","article-title":"The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product","volume":"8","author":"Jaenicke","year":"1990","journal-title":"Genomics"},{"key":"10.1006\/jmcc.2001.1340_RF13","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1152\/physrev.1986.66.3.710","article-title":"Developmental and functional adaptation of contractile proteins in cardiac and skeletal muscles","volume":"66","author":"Swynghedauw","year":"1986","journal-title":"Physiol Rev"},{"key":"10.1006\/jmcc.2001.1340_RF14","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s003950050196","article-title":"Molecular genetic studies of familial hypertrophic cardiomyopathy","volume":"93 (Suppl. 3","author":"Seidman","year":"1998","journal-title":"Basic Res Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF15","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1172\/JCI116957","article-title":"Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy","volume":"93","author":"Anan","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF16","doi-asserted-by":"crossref","first-page":"2807","DOI":"10.1172\/JCI116900","article-title":"Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the betamyosin heavy chain gene","volume":"92","author":"Dausse","year":"1993","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF17","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1002\/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E","article-title":"Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy","volume":"12","author":"Tesson","year":"1998","journal-title":"Hum Mutat"},{"key":"10.1006\/jmcc.2001.1340_RF18","doi-asserted-by":"crossref","first-page":"2607","DOI":"10.1006\/jmcc.1995.0047","article-title":"A novel deletion mutation in the beta-myosin heavy chain gene found in Japanese patients with hypertrophic cardiomyopathy","volume":"27","author":"Nakajima-Taniguchi","year":"1995","journal-title":"J Mol Cell Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF19","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.1172\/JCI116101","article-title":"Detection of a new mutation in the beta-myosin heavy chain gene in an individual with hypertrophic cardiomyopathy","volume":"90","author":"Marian","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF20","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1136\/hrt.76.5.451","article-title":"A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy","volume":"76","author":"Cuda","year":"1996","journal-title":"Heart"},{"key":"10.1006\/jmcc.2001.1340_RF21","first-page":"1180","article-title":"Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy","volume":"53","author":"Watkins","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1006\/jmcc.2001.1340_RF22","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1161\/01.res.0000435859.24609.b3","article-title":"Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy [see comments]","volume":"80","author":"Carrier","year":"1997","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF23","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1056\/NEJM199804303381802","article-title":"Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy","volume":"338","author":"Niimura","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1006\/jmcc.2001.1340_RF24","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/ng1295-438","article-title":"Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy","volume":"11","author":"Bonne","year":"1995","journal-title":"Nat Genet"},{"key":"10.1006\/jmcc.2001.1340_RF25","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ng1295-434","article-title":"Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy","volume":"11","author":"Watkins","year":"1995","journal-title":"Nat Genet"},{"key":"10.1006\/jmcc.2001.1340_RF26","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1161\/01.RES.76.4.681","article-title":"Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart","volume":"76","author":"Anderson","year":"1995","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF27","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0092-8674(94)90054-X","article-title":"Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere","volume":"77","author":"Thierfelder","year":"1994","journal-title":"Cell"},{"key":"10.1006\/jmcc.2001.1340_RF28","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1161\/01.CIR.94.12.3069","article-title":"Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy","volume":"94","author":"Forissier","year":"1996","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF29","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/ng0897-379","article-title":"Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy","volume":"16","author":"Kimura","year":"1997","journal-title":"Nat Genet"},{"key":"10.1006\/jmcc.2001.1340_RF30","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0596-63","article-title":"Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle","volume":"13","author":"Poetter","year":"1996","journal-title":"Nat Genet"},{"key":"10.1006\/jmcc.2001.1340_RF31","doi-asserted-by":"crossref","first-page":"R39","DOI":"10.1172\/JCI6460","article-title":"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy","volume":"103","author":"Mogensen","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF32","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":"Satoh","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/jmcc.2001.1340_RF33","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1023\/A:1006869616555","article-title":"Cardiomyopathies and mitochondrial DNA mutations","volume":"176","author":"Takeda","year":"1997","journal-title":"Mol Cell Biochem"},{"key":"10.1006\/jmcc.2001.1340_RF34","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1161\/01.CIR.86.2.345","article-title":"Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-Val mutation and a 403Arg\u2014Gln mutation","volume":"86","author":"Epstein","year":"1992","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF35","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1093\/oxfordjournals.eurheartj.a060920","article-title":"Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations","volume":"16","author":"Marian","year":"1995","journal-title":"Eur Heart J"},{"key":"10.1006\/jmcc.2001.1340_RF36","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1056\/NEJM199204233261703","article-title":"Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy","volume":"326","author":"Watkins","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1006\/jmcc.2001.1340_RF37","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1056\/NEJM199504203321603","article-title":"Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy","volume":"332","author":"Watkins","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1006\/jmcc.2001.1340_RF38","doi-asserted-by":"crossref","first-page":"2230","DOI":"10.1161\/01.CIR.97.22.2230","article-title":"Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene","volume":"97","author":"Charron","year":"1998","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF39","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1053\/euhj.1997.0575","article-title":"Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes [see comments]","volume":"19","author":"Charron","year":"1998","journal-title":"Eur Heart J"},{"key":"10.1006\/jmcc.2001.1340_RF40","first-page":"191","article-title":"Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy","volume":"45","author":"Abchee","year":"1997","journal-title":"J Investig Med"},{"key":"10.1006\/jmcc.2001.1340_RF41","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1161\/01.CIR.102.16.1950","article-title":"Homozygous mutation in cardiac troponin T: implications for hypertrophic cardio- myopathy [In Process Citation]","volume":"102","author":"Ho","year":"2000","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF42","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/s004390050695","article-title":"A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes","volume":"102","author":"Jeschke","year":"1998","journal-title":"Hum Genet"},{"key":"10.1006\/jmcc.2001.1340_RF43","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/0140-6736(93)92064-Z","article-title":"Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death","volume":"342","author":"Marian","year":"1993","journal-title":"Lancet"},{"key":"10.1006\/jmcc.2001.1340_RF44","doi-asserted-by":"crossref","first-page":"1808","DOI":"10.1161\/01.CIR.92.7.1808","article-title":"Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy","volume":"92","author":"Lechin","year":"1995","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF45","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1006\/jmcc.1996.0332","article-title":"The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation","volume":"29","author":"Tesson","year":"1997","journal-title":"J Mol Cell Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF46","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1172\/JCI114844","article-title":"An insertion\/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels","volume":"86","author":"Rigat","year":"1990","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF47","first-page":"542","article-title":"Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy","volume":"45","author":"Brugada","year":"1997","journal-title":"J Investig Med"},{"key":"10.1006\/jmcc.2001.1340_RF48","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1006\/jmcc.2000.1267","article-title":"Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy","volume":"32","author":"Patel","year":"2000","journal-title":"J Mol Cell Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF49","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1038\/368113a0","article-title":"Single myosin molecule mechanics: piconewton forces and nano\u00cdmetre steps [see comments]","volume":"368","author":"Finer","year":"1994","journal-title":"Nature"},{"key":"10.1006\/jmcc.2001.1340_RF50","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1161\/01.res.0000435859.24609.b3","article-title":"Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy","volume":"80","author":"Carrier","year":"1997","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF51","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1161\/01.RES.84.10.1117","article-title":"Cardiac myosin binding protein C","volume":"84","author":"Winegrad","year":"1999","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF52","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/j.1432-1033.1996.00317.x","article-title":"A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy","volume":"235","author":"Freiburg","year":"1996","journal-title":"Eur J Biochem"},{"key":"10.1006\/jmcc.2001.1340_RF53","doi-asserted-by":"crossref","first-page":"1952","DOI":"10.1002\/j.1460-2075.1995.tb07187.x","article-title":"Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?","volume":"14","author":"Gautel","year":"1995","journal-title":"EMBO J"},{"key":"10.1006\/jmcc.2001.1340_RF54","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1096\/fasebj.9.9.7601340","article-title":"The troponin complex and regulation of muscle contraction","volume":"9","author":"Farah","year":"1995","journal-title":"FASEB J"},{"key":"10.1006\/jmcc.2001.1340_RF55","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1161\/01.RES.83.5.471","article-title":"Troponin and tropomyosin: proteins that switch on and tune in the activity of cardiac myofilaments","volume":"83","author":"Solaro","year":"1998","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF56","doi-asserted-by":"crossref","first-page":"C1085","DOI":"10.1152\/ajpcell.1993.264.5.C1085","article-title":"Myosin light chain phosphorylation in vertebrate striated muscle: regulation and function","volume":"264","author":"Sweeney","year":"1993","journal-title":"Am J Physiol"},{"key":"10.1006\/jmcc.2001.1340_RF57","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/365454a0","article-title":"Skeletal muscle myosin light chains are essential for physiological speeds of shortening","volume":"365","author":"Lowey","year":"1993","journal-title":"Nature"},{"key":"10.1006\/jmcc.2001.1340_RF58","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/374650a0","article-title":"Impairment of muscle function caused by mutations of phosphorylation sites in myosin regulatory light chain","volume":"374","author":"Tohtong","year":"1995","journal-title":"Nature"},{"key":"10.1006\/jmcc.2001.1340_RF59","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1172\/JCI118813","article-title":"Regulation of human heart contractility by essential myosin light chain isoforms","volume":"98","author":"Morano","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF60","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1161\/01.RES.80.5.655","article-title":"Transgenic remodeling of the regulatory myosin light chains in the mammalian heart","volume":"80","author":"Gulick","year":"1997","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF61","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1083\/jcb.137.1.131","volume":"137","author":"Becker","year":"1997","journal-title":"J Cell Biol"},{"key":"10.1006\/jmcc.2001.1340_RF62","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1038\/70990","article-title":"Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes","volume":"5","author":"Michele","year":"1999","journal-title":"Nat Med"},{"key":"10.1006\/jmcc.2001.1340_RF63","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1172\/JCI3880","article-title":"A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy","volume":"102","author":"Yang","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF64","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1161\/01.RES.77.1.98","article-title":"Expression of a mutation causing hypertrophic cardiomyopathy disrupts sarcomere assembly in adult feline cardiac myocytes","volume":"77","author":"Marian","year":"1995","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF65","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1016\/S0021-9258(17)42067-9","article-title":"Heterologous expression of a cardiomyopathic myosin that is defective in its actin interaction","volume":"269","author":"Sweeney","year":"1994","journal-title":"J Biol Chem"},{"key":"10.1006\/jmcc.2001.1340_RF66","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1161\/01.RES.86.7.737","article-title":"Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy","volume":"86","author":"Tyska","year":"2000","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF67","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1172\/JCI6377","article-title":"Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-asso\u00cdciated mutant troponin T proteins","volume":"103","author":"Rust","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF68","doi-asserted-by":"crossref","first-page":"C200","DOI":"10.1152\/ajpcell.1998.275.1.C200","article-title":"Ca2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy","volume":"275","author":"Morimoto","year":"1998","journal-title":"Am J Physiol"},{"key":"10.1006\/jmcc.2001.1340_RF69","doi-asserted-by":"crossref","first-page":"8806","DOI":"10.1074\/jbc.274.13.8806","article-title":"Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy","volume":"274","author":"Yanaga","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1006\/jmcc.2001.1340_RF70","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1006\/bbrc.1997.7045","article-title":"Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility","volume":"236","author":"Bing","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/jmcc.2001.1340_RF71","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1023\/A:1018613907574","article-title":"The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy","volume":"18","author":"Cuda","year":"1997","journal-title":"J Muscle Res Cell Motil"},{"key":"10.1006\/jmcc.2001.1340_RF72","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1172\/JCI119228","article-title":"Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication","volume":"99","author":"Fujita","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF73","doi-asserted-by":"crossref","first-page":"2866","DOI":"10.1172\/JCI119115","article-title":"Functional analysis of the mu\u00cdtations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome","volume":"98","author":"Sata","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF74","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1161\/01.RES.84.4.475","article-title":"Altered crossbridge kinetics in the alphaMHC403\/+ mouse model of familial hypertrophic cardiomyopathy","volume":"84","author":"Blanchard","year":"1999","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF75","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1172\/JCI5220","article-title":"Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy","volume":"103","author":"Gao","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF76","doi-asserted-by":"crossref","first-page":"2842","DOI":"10.1172\/JCI118740","article-title":"Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy","volume":"97","author":"Lin","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF77","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1006\/bbrc.1997.7045","article-title":"Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility","volume":"236","author":"Bing","year":"1997","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1006\/jmcc.2001.1340_RF78","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1172\/JCI117795","article-title":"Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy","volume":"95","author":"Lankford","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF79","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1006\/jmcc.1996.0309","article-title":"Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients","volume":"29","author":"Malinchik","year":"1997","journal-title":"J Mol Cell Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF80","first-page":"H1780","article-title":"An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes","volume":"276","author":"Kim","year":"1999","journal-title":"Am J Physiol"},{"key":"10.1006\/jmcc.2001.1340_RF81","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1161\/01.RES.81.1.76","article-title":"Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility","volume":"81","author":"Marian","year":"1997","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF82","doi-asserted-by":"crossref","first-page":"2456","DOI":"10.1172\/JCI119063","article-title":"Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action [see comments]","volume":"98","author":"Watkins","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF83","doi-asserted-by":"crossref","first-page":"14406","DOI":"10.1073\/pnas.95.24.14406","article-title":"Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function","volume":"95","author":"Sweeney","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/jmcc.2001.1340_RF84","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1126\/science.272.5262.731","article-title":"A mouse model of familial hypertrophic cardiomyopathy","volume":"272","author":"Geisterfer-Lowrance","year":"1996","journal-title":"Science"},{"key":"10.1006\/jmcc.2001.1340_RF85","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1172\/JCI4088","article-title":"Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice","volume":"102","author":"Oberst","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF86","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1172\/JCI6067","article-title":"Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy","volume":"104","author":"Tardiff","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF87","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1161\/01.RES.85.1.47","article-title":"Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction","volume":"85","author":"Muthuchamy","year":"1999","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF88","first-page":"H2148","article-title":"Cardiac myosin heavy chains lacking the light chain binding domain cause hypertrophic cardiomyopathy in mice","volume":"276","author":"Welikson","year":"1999","journal-title":"Am J Physiol"},{"key":"10.1006\/jmcc.2001.1340_RF89","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1073\/pnas.96.3.1048","article-title":"The stretch-activation response may be critical to the proper functioning of the mammalian heart","volume":"96","author":"Vemuri","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/jmcc.2001.1340_RF90","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/S0008-6363(00)00114-0","article-title":"Transgenic rat hearts expressing a human cardiac troponin T deletion reveal diastolic dysfunction and ventricular arrhythmias","volume":"47","author":"Frey","year":"2000","journal-title":"Cardiovasc Res"},{"key":"10.1006\/jmcc.2001.1340_RF91","doi-asserted-by":"crossref","first-page":"1683","DOI":"10.1172\/JCI7956","article-title":"A transgenic rabbit model for human hypertrophic cardiomyopathy","volume":"104","author":"Marian","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF92","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/6549","article-title":"The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation","volume":"5","author":"Georgakopoulos","year":"1999","journal-title":"Nat Med"},{"key":"10.1006\/jmcc.2001.1340_RF93","doi-asserted-by":"crossref","first-page":"2800","DOI":"10.1172\/JCI2389","article-title":"A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy","volume":"101","author":"Tardiff","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF94","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1161\/01.RES.85.9.841","article-title":"In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy","volume":"85","author":"Yang","year":"1999","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF95","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1172\/JCI1940","article-title":"Diastolic dysfunction and altered energetics in the alphaMHC403\/+ mouse model of familial hypertrophic cardiomyopathy","volume":"101","author":"Spindler","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF96","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1023\/A:1009700404218","article-title":"Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities","volume":"2","author":"Berul","year":"1998","journal-title":"J Interv Card Electrophysiol"},{"key":"10.1006\/jmcc.2001.1340_RF97","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1172\/JCI119197","article-title":"Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice","volume":"99","author":"Berul","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF98","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1161\/01.CIR.99.2.254","article-title":"Doppler estimation of left ventricular filling pressures in patients with hypertrophic cardiomyopathy","volume":"99","author":"Nagueh","year":"1999","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF99","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/jmcc.1999.1081","article-title":"Decreased left ventricular ejection fraction in transgenic mice expressing mutant cardiac troponin T-Q(92), responsible for human hypertrophic cardiomyopathy","volume":"32","author":"Lim","year":"2000","journal-title":"J Mol Cell Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF100","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/S0140-6736(99)06187-5","article-title":"Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy","volume":"355","author":"Marian","year":"2000","journal-title":"Lancet"},{"key":"10.1006\/jmcc.2001.1340_RF101","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1172\/JCI119555","article-title":"Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein","volume":"100","author":"Rottbauer","year":"1997","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF102","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1172\/JCI118992","article-title":"Ablation of the murine alpha myosin heavy chain gene leads to dosage effects and functional deficits in the heart","volume":"98","author":"Jones","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF103","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1161\/01.RES.81.6.1005","article-title":"Targeted ablation of the murine alpha-tropomyosin gene","volume":"81","author":"Blanchard","year":"1997","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF104","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1161\/01.RES.82.1.116","article-title":"Molecular and physiological effects of alpha-tropomyosin ablation in the mouse","volume":"82","author":"Rethinasamy","year":"1998","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF105","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1161\/01.CIR.96.3.874","article-title":"Overexpression of transforming growth factorbeta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy","volume":"96","author":"Li","year":"1997","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF106","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1016\/0002-9149(92)90311-L","article-title":"Plasma levels of atrial natriuretic peptide in hypertrophic cardiomyopathy","volume":"70","author":"Derchi","year":"1992","journal-title":"Am J Cardiol"},{"key":"10.1006\/jmcc.2001.1340_RF107","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1161\/01.HYP.27.2.259","article-title":"Endothelin-1 and its receptor in hypertrophic cardiomyopathy","volume":"27","author":"Hasegawa","year":"1996","journal-title":"Hypertension"},{"key":"10.1006\/jmcc.2001.1340_RF108","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1161\/01.CIR.88.2.372","article-title":"Ventricular expression of brain natriuretic peptide in hypertrophic cardiomyopathy","volume":"88","author":"Hasegawa","year":"1993","journal-title":"Circulation"},{"key":"10.1006\/jmcc.2001.1340_RF109","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1007\/BF03401640","article-title":"Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy","volume":"2","author":"Vikstrom","year":"1996","journal-title":"Mol Med"},{"key":"10.1006\/jmcc.2001.1340_RF110","article-title":"Abnormal contractile function in transgenic mice expressing an FHC-linked troponin T (179N) mutation","author":"Miller","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1006\/jmcc.2001.1340_RF111","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1172\/JCI7377","article-title":"Dilated cardiomyopathy in homo- zygous myosin-binding protein-C mutant mice [published erratum appears in J Clin Invest 1999 Dec; 104(12): 1771]","volume":"104","author":"McConnell","year":"1999","journal-title":"J Clin Invest"},{"key":"10.1006\/jmcc.2001.1340_RF112","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1161\/01.RES.87.4.296","article-title":"In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy","volume":"87","author":"Sanbe","year":"2000","journal-title":"Circ Res"},{"key":"10.1006\/jmcc.2001.1340_RF113","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1161\/01.RES.87.9.805","article-title":"Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy","volume":"87","author":"James","year":"2000","journal-title":"Circ Res"}],"container-title":["Journal of Molecular and Cellular Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022282801913409?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022282801913409?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T05:12:12Z","timestamp":1620018732000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022282801913409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,4]]},"references-count":113,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,4]]}},"alternative-id":["S0022282801913409"],"URL":"https:\/\/doi.org\/10.1006\/jmcc.2001.1340","relation":{},"ISSN":["0022-2828"],"issn-type":[{"value":"0022-2828","type":"print"}],"subject":[],"published":{"date-parts":[[2001,4]]}}}