Regulation of sarcomere formation and function in the healthy heart requires a titin intronic enhancer

Heterozygous truncating variants in the sarcomere protein titin (TTN) are the most common genetic cause of heart failure. To understand mechanisms that regulate abundant cardiomyocyte TTN expression we characterized highly conserved intron 1 sequences that exhibited dynamic changes in chromatin acce...

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Veröffentlicht in:The Journal of clinical investigation 2024-12
Hauptverfasser: Kim, Yuri, Kim, Seong Won, Saul, David, Neyazi, Meraj, Schmid, Manuel, Wakimoto, Hiroko, Slaven, Neil, Lee, Joshua H, Layton, Olivia G, Wasson, Lauren K, Letendre, Justin H, Xiao, Feng, Ewoldt, Jourdan K, Gkatzis, Konstantinos, Sommer, Peter, Gobert, Bénédicte, Wiest-Daesslé, Nicolas, McAfee, Quentin, Singhal, Nandita, Lun, Mingyue, Gorham, Joshua M, Arany, Zoltan, Sharma, Arun, Toepfer, Christopher N, Oudit, Gavin Y, Pu, William T, Dickel, Diane E, Pennacchio, Len A, Visel, Axel, Chen, Christopher S, Seidman, J G, Seidman, Christine E
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Sprache:eng
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