{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T00:29:25Z","timestamp":1789518565382,"version":"build-2803163510"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1997,8,1]],"date-time":"1997-08-01T00:00:00Z","timestamp":870393600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1997,8]]},"DOI":"10.1038\/ng0897-379","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:32:53Z","timestamp":1092861173000},"page":"379-382","source":"Crossref","is-referenced-by-count":457,"title":["Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy"],"prefix":"10.1038","volume":"16","author":[{"given":"Akinori","family":"Kimura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haruhito","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong-Euy","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Nishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manatsu","family":"Satoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megumi","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shitoshi","family":"Hiroi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taishi","family":"Sasaoka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhisa","family":"Ohbuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeyuki","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Koyanagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae-Hong","family":"Hwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-A","family":"Choo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyu-Sung","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryozo","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Okazaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masunori","family":"Matsuzaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuguya","family":"Sakamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironori","family":"Toshima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Koga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Imaizumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takehiko","family":"Sasazuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0897379_CR1","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1056\/NEJM198703263161305","volume":"316","author":"BJ Maron","year":"1987","unstructured":"Maron, B.J., Bonow, R.O., Cannon, R.O., Leon, M.B. & Epstein, S.E. Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N. Engl. J. Med. 316, 780\u2013789 (1987).","journal-title":"N. Engl. J. Med."},{"key":"BFng0897379_CR2","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1056\/NEJM198911163212005","volume":"321","author":"JA Jarcho","year":"1989","unstructured":"Jarcho, J.A. et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N. Engl. J. Med. 321, 1372\u20131378 (1989).","journal-title":"N. Engl. J. Med."},{"key":"BFng0897379_CR3","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1016\/0092-8674(90)90274-I","volume":"62","author":"AAT Geisterfer-Lowrance","year":"1990","unstructured":"Geisterfer-Lowrance, A.A.T. et al. A molecular basis for familial hypertrophic cardiomyopathy: a \u03b2 cardiac myosin heavy chain gene missense mutation. Cell 62, 999\u20131006 (1990).","journal-title":"Cell"},{"key":"BFng0897379_CR4","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1038\/ng0493-333","volume":"3","author":"H Watkins","year":"1993","unstructured":"Watkins, H. et al. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nature Genet. 3, 333\u2013337 (1993).","journal-title":"Nature Genet."},{"key":"BFng0897379_CR5","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/0092-8674(94)90054-X","volume":"77","author":"L Thierfelder","year":"1994","unstructured":"Thierfelder, L. et al. \u03b1-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77, 701\u2013712 (1994).","journal-title":"Cell"},{"key":"BFng0897379_CR6","doi-asserted-by":"publisher","first-page":"6270","DOI":"10.1073\/pnas.90.13.6270","volume":"90","author":"L Thierfelder","year":"1993","unstructured":"Thierfelder, L. et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc. Natl. Acad. Sd. USA 90, 6270\u20136274 (1993).","journal-title":"Proc. Natl. Acad. Sd. USA"},{"key":"BFng0897379_CR7","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1038\/ng0793-311","volume":"4","author":"L Carrier","year":"1993","unstructured":"Carrier, L. et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nature Genet 4, 311\u2013313 (1993).","journal-title":"Nature Genet"},{"key":"BFng0897379_CR8","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/ng1295-434","volume":"11","author":"H Watkins","year":"1995","unstructured":"Watkins, H. et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nature Genet. 11, 434\u2013437 (1995).","journal-title":"Nature Genet."},{"key":"BFng0897379_CR9","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1038\/ng1295-438","volume":"11","author":"G Bonne","year":"1995","unstructured":"Bonne, G. et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nature Genet 11, 438\u2013440 (1995).","journal-title":"Nature Genet"},{"key":"BFng0897379_CR10","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1038\/ng0596-63","volume":"13","author":"K Poetter","year":"1996","unstructured":"Poetter, K. et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nature Genet. 13, 63\u201369 (1996).","journal-title":"Nature Genet."},{"key":"BFng0897379_CR11","doi-asserted-by":"publisher","first-page":"5901","DOI":"10.1073\/pnas.79.19.5901","volume":"79","author":"H Hamada","year":"1992","unstructured":"Hamada, H., Petrino, M.G. & Kakunaga, T. Molecular structure and evolutionary origin of human cardiac muscle actin gene. Proc. Natl. Acad. Sci. USA 79, 5901\u20135905 (1992).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0897379_CR12","doi-asserted-by":"crossref","first-page":"21247","DOI":"10.1016\/S0021-9258(17)45353-1","volume":"265","author":"T Schreier","year":"1990","unstructured":"Schreier, T., Kedes, L. & Gahlmann, R., Cloning, structural analysis, and expression of the human slow twitch skeletal muscle\/cardiac troponin C gene. J. Biol. Chem. 265, 21247\u201321253 (1990).","journal-title":"J. Biol. Chem."},{"key":"BFng0897379_CR13","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1006\/geno.1996.0317","volume":"35","author":"PK Bhavsar","year":"1996","unstructured":"Bhavsar, P.K., Brand, N.J., Yacoub, M.H. & Barton, P.J.R. Isolation and characterization of the human cardiac troponin I gene (TNNI3). Genomics 35, 11\u201323 (1996).","journal-title":"Genomics"},{"key":"BFng0897379_CR14","doi-asserted-by":"publisher","first-page":"3647","DOI":"10.1093\/nar\/18.12.3647","volume":"18","author":"CC Liew","year":"1990","unstructured":"Liew, C.C. et al. Complete sequence and organization of the human cardiac beta-myosin heavy chain gene. Nucl. Adds Res. 18, 3647\u20133651 (1990).","journal-title":"Nucl. Adds Res."},{"key":"BFng0897379_CR15","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1016\/S0021-9258(18)94153-0","volume":"264","author":"WL Fodor","year":"1989","unstructured":"Fodor, W.L. Human ventricular\/slow twitch myosin alkali light chain gene characterization, sequence, and chromosomal location. J. Biol. Chem. 264, 2143\u20132149 (1989).","journal-title":"J. Biol. Chem."},{"key":"BFng0897379_CR16","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1006\/geno.1995.1288","volume":"30","author":"N Bermingham","year":"1995","unstructured":"Bermingham, N. et al. Mapping TNNC1, the gene that encodes cardiac troponin I in the human and mouse. Genomics 30, 620\u2013622 (1995).","journal-title":"Genomics"},{"key":"BFng0897379_CR17","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1007\/BF02267066","volume":"97","author":"YL Ko","year":"1996","unstructured":"Ko, Y.L. et al. Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type. Hum. Genet. 97, 457\u2013461 (1996).","journal-title":"Hum. Genet."},{"key":"BFng0897379_CR18","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1161\/01.CIR.91.2.532","volume":"91","author":"K Schwarts","year":"1995","unstructured":"Schwarts, K., Carrier, L., Guicheney, P. & Komajda, M. Molecular basis of familial cardiomyopathy. Circulation 91, 532\u2013540 (1995).","journal-title":"Circulation"},{"key":"BFng0897379_CR19","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1056\/NEJM199504203321603","volume":"332,","author":"H Watkins","year":"1995","unstructured":"Watkins, H. et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N. Engl. J. Med. 332,, 1058\u20131064 (1995).","journal-title":"N. Engl. J. Med."},{"key":"BFng0897379_CR20","doi-asserted-by":"publisher","first-page":"1216","DOI":"10.1172\/JCI118154","volume":"96","author":"CA MacRae","year":"1995","unstructured":"MacRae, C.A. et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J. Clin. Invest. 96, 1216\u20131220 (1995).","journal-title":"J. Clin. Invest."},{"key":"BFng0897379_CR21","first-page":"941","volume-title":"Drosophila melanogaster heldup mutants are caused by missing or aberrant troponin-l isoforms","author":"CJ Beall","year":"1991","unstructured":"Beall, C.J. & Fyrberg, E. Muscle abnormalities in Drosophila melanogaster heldup mutants are caused by missing or aberrant troponin-l isoforms. J. Cell Biol. 114, 941\u2013951 (1991)."},{"key":"BFng0897379_CR22","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1096\/fasebj.9.9.7601340","volume":"9","author":"CS Farah","year":"1995","unstructured":"Farah, C.S. & Reinach, F.C. The troponin complex and regulation of muscle contraction. FASEB J. 9, 755\u2013767 (1995).","journal-title":"FASEB J."},{"key":"BFng0897379_CR23","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1007\/978-1-4615-1893-8_12","volume":"382","author":"RJ Solaro","year":"1995","unstructured":"Solaro, R.J. Troponin C\u2014troponin I interactions and molecular signaling in cardiac myofilaments. Adv. Exp. Med. Biol. 382, 109\u2013115 (1995).","journal-title":"Adv. Exp. Med. Biol."},{"key":"BFng0897379_CR24","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1042\/bj1530375","volume":"153","author":"H Syska","year":"1976","unstructured":"Syska, H., Wilkinson, J.M., Grand, R.J.A. & Perry, S.V. The relationship between biological activity and primary structure of troponin I from white skeletal muscle of the rabbit. Biochem. J. 153, 375\u2013387 (1976).","journal-title":"Biochem. J."},{"key":"BFng0897379_CR25","doi-asserted-by":"crossref","first-page":"2798","DOI":"10.1016\/S0021-9258(19)69684-5","volume":"256","author":"JA Talbot","year":"1981","unstructured":"Talbot, J.A. & Hodges, R.S. Synthetic studies on the inhibitory region of rabbit skeletal troponin I. J. Biol. Chem. 256, 2798\u20132802 (1981).","journal-title":"J. Biol. Chem."},{"key":"BFng0897379_CR26","doi-asserted-by":"crossref","first-page":"5230","DOI":"10.1016\/S0021-9258(17)37679-2","volume":"269","author":"CS Farah","year":"1994","unstructured":"Farah, C.S. et al. Structural and regulatory function of the NH2 and COOH'terminal regions of skeletal muscle troponin I. J. Biol. Chem. 269, 5230\u20135240 (1994).","journal-title":"J. Biol. Chem."},{"key":"BFng0897379_CR27","doi-asserted-by":"publisher","first-page":"5902","DOI":"10.1021\/bi00440a029","volume":"28","author":"T Tao","year":"1989","unstructured":"Tao, T., Gowell, E., Strasburg, G.M., Gergely, J. & Leavis, P.C. Ca2+ dependence of the distance between Cys-98 of troponin C and Cys-133 of troponin I in the ternary complex: resonance energy transfer measurements. Biochemistry 28, 5902\u20135908 (1989).","journal-title":"Biochemistry"},{"key":"BFng0897379_CR28","doi-asserted-by":"publisher","first-page":"2842","DOI":"10.1172\/JCI118740","volume":"97","author":"D Lin","year":"1996","unstructured":"Lin, D., Bobkova, A., Homsher, E. & Tobacman, L.S. Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy. J. Clin. Invest. 97, 2842\u20132848 (1996).","journal-title":"J. Clin. Invest."},{"key":"BFng0897379_CR29","doi-asserted-by":"publisher","first-page":"2911","DOI":"10.1161\/01.CIR.91.12.2911","volume":"91","author":"H Nishi","year":"1995","unstructured":"Nishi, H. et al. A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 91, 2911\u20132915 (1995).","journal-title":"Circulation"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0897-379","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0897-379.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0897-379.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:54:36Z","timestamp":1684443276000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0897-379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,8]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1997,8]]}},"alternative-id":["BFng0897379"],"URL":"https:\/\/doi.org\/10.1038\/ng0897-379","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,8]]}}}