Titin is a major human disease gene.
نویسندگان
چکیده
Titin Is a Major Human Disease Gene Print ISSN: 0009-7322. Online ISSN: 1524-4539 Copyright © 2013 American Heart Association, Inc. All rights reserved. is published by the American Heart Association, 7272 Greenville Avenue, Dallas, TX 75231 Circulation doi: 10.1161/CIRCULATIONAHA.112.139717 2013;127:938-944 Circulation. http://circ.ahajournals.org/content/127/8/938 World Wide Web at: The online version of this article, along with updated information and services, is located on the
منابع مشابه
Gigantic business: titin properties and function through thick and thin.
The giant protein titin forms a unique filament network in cardiomyocytes, which engages in both mechanical and signaling functions of the heart. TTN, which encodes titin, is also a major human disease gene. In this review, we cover the roles of cardiac titin in normal and failing hearts, with a special emphasis on the contribution of titin to diastolic stiffness. We provide an update on diseas...
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Human mutations that truncate the massive sarcomere protein titin [TTN-truncating variants (TTNtvs)] are the most common genetic cause for dilated cardiomyopathy (DCM), a major cause of heart failure and premature death. Here we show that cardiac microtissues engineered from human induced pluripotent stem (iPS) cells are a powerful system for evaluating the pathogenicity of titin gene variants....
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Titin (also called connectin) is a major protein in sarcomere assembly as well as providing elastic return of the sarcomere postcontraction in cardiac and striated skeletal muscle tissues. In addition, it has been speculated that titin is associated with nuclear functions, including chromosome and spindle formation, and regulation of muscle gene expression. In the present study, a short isoform...
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BACKGROUND Ischemia-induced cardiomyopathy usually is accompanied by elevated left ventricular end-diastolic pressure, which follows from increased myocardial stiffness resulting from upregulated collagen expression. In addition to collagen, a main determinant of stiffness is titin, whose role in ischemia-induced left ventricular stiffening was studied here. Human heart sarcomeres coexpress 2 p...
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The success of the Human Genome Project (HGP) has provided a blueprint for the approximately 20,000 gene-encoded proteins potentially active in all of the hundreds of cell types that make up the human body. Yet we still have limited knowledge about a majority of the gene-encoded proteins which are the “building blocks of life” and “cellular machinery”. It is estimated that for nearly half of th...
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ورودعنوان ژورنال:
- Circulation
دوره 127 8 شماره
صفحات -
تاریخ انتشار 2013