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

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 zebra...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/32b75a989a0d494f99383ba50d107a85
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spelling	oai:doaj.org-article:32b75a989a0d494f99383ba50d107a852021-12-02T17:33:19ZRare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation10.1038/s41467-018-06618-y2041-1723https://doaj.org/article/32b75a989a0d494f99383ba50d107a852018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06618-yhttps://doaj.org/toc/2041-1723Common 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.Gustav AhlbergLena RefsgaardPia R. LundegaardLaura AndreasenMattis F. RantheNora LinscheidJonas B. NielsenMads MelbyeStig HaunsøAhmad SajadiehLu CampSøren-Peter OlesenSimon RasmussenAlicia LundbyPatrick T. EllinorAnders G. HolstJesper H. SvendsenMorten S. OlesenNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
description	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.
format	article
author	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
author_facet	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
author_sort	Gustav Ahlberg
title	Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
title_short	Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
title_full	Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
title_fullStr	Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
title_full_unstemmed	Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
title_sort	rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/32b75a989a0d494f99383ba50d107a85
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Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

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