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

2015; American Association for the Advancement of Science; Volume: 7; Issue: 270 Linguagem: Inglês

10.1126/scitranslmed.3010134

1946-6242

Angharad M. Roberts, James S. Ware, Daniel S. Herman, Sebastian Schäfer, John Baksi, Alexander G. Bick, Rachel Buchan, Roddy Walsh, Shibu John, Stephen Wilkinson, Francesco Mazzarotto, Leanne E. Felkin, Sungsam Gong, Jacqueline MacArthur, Fiona Cunningham, Jason Flannick, Stacey Gabriel, David Altshuler, Peter S. Macdonald, Matthias Heinig, Anne Keogh, Christopher S. Hayward, Nicholas R. Banner, Dudley J. Pennell, Declan P. O’Regan, Ru San Tan, Antonio de Marvao, Timothy J. W. Dawes, Ankur Gulati, Emma J. Birks, Magdi H. Yacoub, Michaël Radkë, Michael Gotthardt, James Wilson, Christopher J. O’Donnell, Sanjay Prasad, Paul J.R. Barton, Diane Fatkin, Norbert Hübner, Jonathan G. Seidman, Christine E. Seidman, Stuart A. Cook,

RNA Research and Splicing

Truncating variants of the giant protein titin cause dilated cardiomyopathy when they occur toward the protein’s carboxyl terminus and in highly expressed exons.