Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an abundant structural, sensory, and signaling filament in muscle) as a common cause of end-stage dilated cardiomyopathy (DCM) provides new prospects for improving heart failure management. However, realizatio...

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Published in:Sci Transl Med
Main Authors: Roberts, Angharad M., Ware, James S., Herman, Daniel S., Schafer, Sebastian, Baksi, John, Bick, Alexander G., Buchan, Rachel J., Walsh, Roddy, John, Shibu, Wilkinson, Samuel, Mazzarotto, Francesco, Felkin, Leanne E., Gong, Sungsam, MacArthur, Jacqueline A.L., Cunningham, Fiona, Flannick, Jason, Gabriel, Stacey B., Altshuler, David M., Macdonald, Peter S., Heinig, Matthias, Keogh, Anne M., Hayward, Christopher S., Banner, Nicholas R., Pennell, Dudley J., O’Regan, Declan, San, Tan Ru, de Marvao, Antonio, Dawes, Timothy J. W., Gulati, Ankur, Birks, Emma J., Yacoub, Magdi H., Radke, Michael, Gotthardt, Michael, Wilson, James G., O’Donnell, Christopher J., Prasad, Sanjay K., Barton, Paul J.R., Fatkin, Diane, Hubner, Norbert, Seidman, J. G., Seidman, Christine E., Cook, Stuart A.
Format: Artigo
Language:Inglês
Published: 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560092/
https://ncbi.nlm.nih.gov/pubmed/25589632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.3010134
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