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Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

dc.contributor.authorYang, Bo
dc.contributor.authorZhou, Wei
dc.contributor.authorJiao, Jiao
dc.contributor.authorNielsen, Jonas Bille
dc.contributor.authorMathis, Michael R
dc.contributor.authorHeydarpour, Mahyar
dc.contributor.authorLettre, Guillaume
dc.contributor.authorFolkersen, Lasse
dc.contributor.authorPrakash, Siddharth
dc.contributor.authorSchurmann, Claudia
dc.contributor.authorFritsche, Lars
dc.contributor.authorFarnum, Gregory A
dc.contributor.authorLin, Maoxuan
dc.contributor.authorOthman, Mohamed
dc.contributor.authorHornsby, Whitney
dc.contributor.authorDriscoll, Anisa
dc.contributor.authorLevasseur, Alexandra
dc.contributor.authorThomas, Marc
dc.contributor.authorFarhat, Linda
dc.contributor.authorDube, Marie-Pierre
dc.contributor.authorIsselbacher, Eric M.
dc.contributor.authorFranco-Cereceda, Anders
dc.contributor.authorGuo, Dong-Chuan
dc.contributor.authorBottinger, Erwin P
dc.contributor.authorDeeb, G Michael
dc.contributor.authorBooher, Anna
dc.contributor.authorKheterpal, Sachin
dc.contributor.authorChen, Y. Eugene
dc.contributor.authorKang, Hyun Min
dc.contributor.authorKitzman, Jacob
dc.contributor.authorCordell, Heather J.
dc.contributor.authorKeavney, Bernard D
dc.contributor.authorGoodship, Judith A
dc.contributor.authorGanesh, Santhi K
dc.contributor.authorAbecasis, Goncalo
dc.contributor.authorEagle, Kim A.
dc.contributor.authorBoyle, Alan P
dc.contributor.authorLoos, Ruth J. F.
dc.contributor.authorEriksson, Per
dc.contributor.authorTardif, Jean-Claude
dc.contributor.authorBrummett, Chad M
dc.contributor.authorMilewicz, Dianna M
dc.contributor.authorBody, Simon C
dc.contributor.authorWiller, Cristen J
dc.date.accessioned2018-08-22T06:50:47Z
dc.date.available2018-08-22T06:50:47Z
dc.date.created2018-01-05T17:30:43Z
dc.date.issued2017
dc.identifier.citationNature Communications. 2017, 8 .nb_NO
dc.identifier.issn2041-1723
dc.identifier.urihttp://hdl.handle.net/11250/2558767
dc.description.abstractBicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors. The disruption of GATA4 significantly impaired the transition from endothelial cells into mesenchymal cells, a critical step in heart valve development.nb_NO
dc.language.isoengnb_NO
dc.publisherNature Publishing Groupnb_NO
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleProtein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valvenb_NO
dc.typeJournal articlenb_NO
dc.typePeer reviewednb_NO
dc.description.versionpublishedVersionnb_NO
dc.source.pagenumber10nb_NO
dc.source.volume8nb_NO
dc.source.journalNature Communicationsnb_NO
dc.identifier.doi10.1038/ncomms15481
dc.identifier.cristin1536926
dc.description.localcode(C) The Author(s) 2017. This work is licensed under a Creative Commons Attribution 4.0 International License.nb_NO
cristin.unitcode194,65,20,0
cristin.unitnameInstitutt for samfunnsmedisin og sykepleie
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


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