Titin-truncating variants affect heart function in disease cohorts and the general population-Reference-Cited by-同舟云学术

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

Published:2016-11-21 Issue:1 Volume:49 Page:46-53
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Schafer Sebastian,de Marvao Antonio^ORCID,Adami Eleonora,Fiedler Lorna R,Ng Benjamin^ORCID,Khin Ester,Rackham Owen J L,van Heesch Sebastiaan,Pua Chee J,Kui Miao,Walsh Roddy,Tayal Upasana,Prasad Sanjay K,Dawes Timothy J W,Ko Nicole S J,Sim David,Chan Laura L H,Chin Calvin W L,Mazzarotto Francesco,Barton Paul J^ORCID,Kreuchwig Franziska,de Kleijn Dominique P V,Totman Teresa,Biffi Carlo,Tee Nicole,Rueckert Daniel,Schneider Valentin,Faber Allison,Regitz-Zagrosek Vera,Seidman Jonathan G,Seidman Christine E,Linke Wolfgang A^ORCID,Kovalik Jean-Paul,O'Regan Declan^ORCID,Ware James S^ORCID,Hubner Norbert,Cook Stuart A

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3719.pdf

Reference73 articles.

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2. Herman, D.S. et al. Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 366, 619–628 (2012).

3. Roberts, A.M. et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci. Transl. Med. 7, 270ra6 (2015).

4. Norton, N. et al. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet 6, 144–153 (2013).

5. Chauveau, C., Rowell, J. & Ferreiro, A. A rising titan: TTN review and mutation update. Hum. Mutat. 35, 1046–1059 (2014).

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