Article
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Science translational medicine - 14 Jan 2015
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 P, 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 Jonathan G, Seidman Christine E, Cook Stuart A
Abstract excerpt
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) promises new prospects for improving heart failure management. However, realization of this opportunity has been hindered by the burden of TTN-truncating variants (TTNtv) in the general population...
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