Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

Autor: Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, Laura Andreasen, Mattis F. Ranthe, Nora Linscheid, Jonas B. Nielsen, Mads Melbye, Stig Haunsø, Ahmad Sajadieh, Lu Camp, Søren-Peter Olesen, Simon Rasmussen, Alicia Lundby, Patrick T. Ellinor, Anders G. Holst, Jesper H. Svendsen, Morten S. Olesen
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-018-06618-y
Popis: Common genetic variants in structural proteins contribute to risk of atrial fibrillation (AF). Here, using whole-exome sequencing, the authors identify rare truncating variants in TTN that associate with familial and early-onset AF and show defects in cardiac sarcomere assembly in ttn.2-mutant zebrafish.
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