Titin-truncating variants affect heart function in disease cohorts and the general population
Titin-truncating variants affect heart function in disease cohorts and the general population
About this item
Full title
Author / Creator
Schafer, Sebastian , de Marvao, Antonio , Adami, Eleonora , Fiedler, Lorna R , Ng, Benjamin , 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 , 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 , Kovalik, Jean-Paul , O'Regan, Declan , Ware, James S , Hubner, Norbert and Cook, Stuart A
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Stuart Cook and colleagues study the role of
TTN
(titin)-truncating variants using a combination of heart physiology experiments in rats and genomic analysis in humans. Their data show that
TTN
variants are associated with a range of cardiac phenotypes in healthy individuals and in patients with dilated cardiomyopathy.
Titin-truncati...
Alternative Titles
Full title
Titin-truncating variants affect heart function in disease cohorts and the general population
Authors, Artists and Contributors
Author / Creator
de Marvao, Antonio
Adami, Eleonora
Fiedler, Lorna R
Ng, Benjamin
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
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
Kovalik, Jean-Paul
O'Regan, Declan
Ware, James S
Hubner, Norbert
Cook, Stuart A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5201198
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5201198
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3719