User profiles for Sebastian Schafer

Sebastian Schäfer

Duke-NUS Medical School
Verified email at duke-nus.edu.sg
Cited by 6757

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

…, CC Benson, S Swist, J Gorham, L Yang, S Schafer… - Science, 2015 - science.org
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 …

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

W Guo, S Schafer, ML Greaser, MH Radke, M Liss… - Nature medicine, 2012 - nature.com
Alternative splicing has a major role in cardiac adaptive responses, as exemplified by the
isoform switch of the sarcomeric protein titin, which adjusts ventricular filling. By positional …

[PDF][PDF] The translational landscape of the human heart

…, CL Sandmann, M Kanda, CL Worth, S Schafer… - Cell, 2019 - cell.com
Gene expression in human tissue has primarily been studied on the transcriptional level,
largely neglecting translational regulation. Here, we analyze the translatomes of 80 human …

IL-11 is a crucial determinant of cardiovascular fibrosis

S Schafer, S Viswanathan, AA Widjaja, WW Lim… - Nature, 2017 - nature.com
Fibrosis is a common pathology in cardiovascular disease 1 . In the heart, fibrosis causes
mechanical and electrical dysfunction 1 , 2 and in the kidney, it predicts the onset of renal …

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

AM Roberts, JS Ware, DS Herman, S Schafer… - Science translational …, 2015 - science.org
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-…

Titin-truncating variants affect heart function in disease cohorts and the general population

S Schafer, A De Marvao, E Adami, LR Fiedler, B Ng… - Nature …, 2017 - nature.com
Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are
also encountered in ∼1% of the general population, where they may be silent, perhaps …

Engineered cell homing

…, JA Phillips, W Zhao, S Schafer… - Blood, The Journal …, 2011 - ashpublications.org
One of the greatest challenges in cell therapy is to minimally invasively deliver a large quantity
of viable cells to a tissue of interest with high engraftment efficiency. Low and inefficient …

Cell-surface sensors for real-time probing of cellular environments

W Zhao, S Schafer, J Choi, YJ Yamanaka… - Nature …, 2011 - nature.com
The ability to explore cell signalling and cell-to-cell communication is essential for understanding
cell biology and developing effective therapeutics. However, it is not yet possible to …

Interleukin-11 is a therapeutic target in idiopathic pulmonary fibrosis

…, J Liang, D Jiang, PW Noble, S Schafer… - Science translational …, 2019 - science.org
Idiopathic pulmonary fibrosis (IPF) is a progressive fibrotic lung disease where invasive
pulmonary myofibroblasts secrete collagen and destroy lung integrity. Here, we show that …

[HTML][HTML] RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

H Maatz, M Jens, M Liss, S Schafer… - The Journal of …, 2014 - Am Soc Clin Investig
Mutations in the gene encoding the RNA-binding protein RBM20 have been implicated in
dilated cardiomyopathy (DCM), a major cause of chronic heart failure, presumably through …