Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease-Reference-Cited by-同舟云学术

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

Published:2015-01-14 Issue:270 Volume:7 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Roberts Angharad M.¹²,Ware James S.²³⁴⁵,Herman Daniel S.⁴⁵⁶,Schafer Sebastian⁷,Baksi John²,Bick Alexander G.⁴⁵,Buchan Rachel J.²,Walsh Roddy²,John Shibu²,Wilkinson Samuel²,Mazzarotto Francesco²³,Felkin Leanne E.²³,Gong Sungsam²,L. MacArthur Jacqueline A.⁸,Cunningham Fiona⁸,Flannick Jason⁵⁹,Gabriel Stacey B.⁵,Altshuler David M.⁵¹⁰,Macdonald Peter S.¹¹¹²¹³,Heinig Matthias⁷,Keogh Anne M.¹¹¹²¹³,Hayward Christopher S.¹¹¹²¹³,Banner Nicholas R.³¹⁴,Pennell Dudley J.²³,O’Regan Declan P.¹,San Tan Ru¹⁵,de Marvao Antonio¹,W. Dawes Timothy J.¹,Gulati Ankur²,Birks Emma J.³¹⁶,Yacoub Magdi H.³,Radke Michael¹⁷,Gotthardt Michael¹⁷¹⁸,Wilson James G.¹⁹,O’Donnell Christopher J.²⁰²¹,Prasad Sanjay K.²,R. Barton Paul J.²³,Fatkin Diane¹¹¹²¹³,Hubner Norbert⁷¹⁸²²,Seidman Jonathan G.⁴,Seidman Christine E.⁴⁵²³²⁴,Cook Stuart A.¹³¹⁵²⁵

Affiliation:

1. Clinical Sciences Centre, Medical Research Council (MRC), Imperial College London, London W12 0NN, UK.

2. National Institute for Health Research (NIHR) Cardiovascular Biomedical Research Unit at Royal Brompton & Harefield National Health Service (NHS) Foundation Trust and Imperial College London, London SW3 6NP, UK.

3. National Heart & Lung Institute, Imperial College London, London SW3 6NP, UK.

4. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

5. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.

6. Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

7. Cardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine, 13125 Berlin, Germany.

8. European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SD, UK.

9. Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.

10. Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

11. Cardiology Department, St Vincent’s Hospital, Darlinghurst, New South Wales 2010, Australia.

12. Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales 2010, Australia.

13. Faculty of Medicine, University of New South Wales, Kensington, New South Wales 2052, Australia.

14. Royal Brompton & Harefield NHS Foundation Trust, Harefield Hospital, Hill End Road, Harefield, Middlesex UB9 6JH, UK.

15. National Heart Centre Singapore, Singapore 169609, Singapore.

16. Department of Medicine, University of Louisville and Jewish Hospital, Louisville, KY 40202, USA.

17. Neuromuscular and Cardiovascular Cell Biology, Max Delbrück Center for Molecular Medicine, 13092 Berlin, Germany.

18. German Centre for Cardiovascular Research, 13347 Berlin, Germany.

19. Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216, USA.

20. National Heart, Lung, and Blood Institute’s Framingham Heart Study, Framingham, MA 01702, USA.

21. Division of Intramural Research, National Heart, Lung, and Blood Institute, Bethesda, MD 20892, USA.

22. Charité-Universitätsmedizin, 10117 Berlin, Germany.

23. Cardiovascular Division, Brigham and Women’s Hospital, Boston, MA 02115, USA.

24. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

25. Duke–National University of Singapore, Singapore 169857, Singapore.

Abstract

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

Funder

NIH

Howard Hughes Medical Institute

U.S. Department of Health and Human Services

NHLBI

National Human Genome Research Institute

National Institute of Biomedical Imaging and Bioengineering

Wellcome Trust UK

European Community's Seventh Framework Programme (FP7)

MRC UK

British Heart Foundation UK

Heart Research UK