Asset Details

MbrlCatalogueTitleDetail

Do you wish to reserve the book?

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

by Levasseur, Alexandra , Brummett, Chad M. , Folkersen, Lasse , Abecasis, Gonçalo , Tardif, Jean-Claude , Booher, Anna , Kheterpal, Sachin , Othman, Mohammad , Hornsby, Whitney , Milewicz, Dianna M. , Eriksson, Per , Boyle, Alan P. , Fritsche, Lars , Willer, Cristen J. , Thomas, Marc , Nielsen, Jonas B. , Schurmann, Claudia , Deeb, G. Michael , Driscoll, Anisa , Franco-Cereceda, Anders , Loos, Ruth J. F. , Jiao, Jiao , Mathis, Michael R. , Farhat, Linda , Kitzman, Jacob , Eagle, Kim A. , Lettre, Guillaume , Dubé, Marie-Pierre , Zhou, Wei , Guo, Dong-chuan , Isselbacher, Eric M. , Ganesh, Santhi K. , Body, Simon C. , Kang, Hyun Min , Prakash, Siddharth , Heydarpour, Mahyar , Yang, Bo , Keavney, Bernard D. , Bottinger, Erwin P. , Farnum, Gregory A. , Lin, Maoxuan , Cordell, Heather J. , Goodship, Judith A. , Chen, Y. Eugene

in 13 / 13/89 / 14 / 45 / 45/43 / 631/208/205/2138 / 631/208/4041/3196 / 692/4019/592/2727 / 692/699/75/1539 / 82/80 / Amino Acid Substitution / Anesthesiology / Aortic Valve - abnormalities / Aortic Valve - embryology / Aortic Valve - metabolism / Bicuspid Aortic Valve Disease / Case-Control Studies / Cell Transdifferentiation - genetics / CRISPR / CRISPR-Cas Systems / Female / GATA4 Transcription Factor - deficiency / GATA4 Transcription Factor - genetics / GATA4 Transcription Factor - metabolism / Gene Regulatory Networks / Genetic variance / Genetic Variation / Genome-Wide Association Study / Genomes / Heart / Heart Defects, Congenital - genetics / Heart Valve Diseases - embryology / Heart Valve Diseases - genetics / Heart Valve Diseases - metabolism / Hospitals / Humanities and Social Sciences / Humans / Induced Pluripotent Stem Cells - metabolism / Induced Pluripotent Stem Cells - pathology / Internal medicine / Male / Medicine / multidisciplinary / Mutation, Missense / Phenotype / Proteins / Risk factors / RNA, Untranslated - genetics / Science / Science (multidisciplinary) / Stem cells / Surgery / Transcription factors

2017

Yes Please

Hey, we have placed the reservation for you!

By the way, why not check out events that you can attend while you pick your title.

Oops! Something went wrong.

Looks like we were not able to place the reservation. Kindly try again later.

Are you sure you want to remove the book from the shelf?

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

2017

Confirm

Do you wish to request the book?

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

2017

Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy

How would you like to get it?

Submit

We have requested the book for you!

Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.

Oops! Something went wrong.

Looks like we were not able to place your request. Kindly try again later.

Journal Article

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

Levasseur, Alexandra,

Brummett, Chad M.,

Folkersen, Lasse,

Abecasis, Gonçalo,

Tardif, Jean-Claude,

Booher, Anna,

Kheterpal, Sachin,

Othman, Mohammad,

Hornsby, Whitney,

Milewicz, Dianna M.,

Eriksson, Per,

Boyle, Alan P.,

Fritsche, Lars,

Willer, Cristen J.,

Thomas, Marc,

Nielsen, Jonas B.,

Schurmann, Claudia,

Deeb, G. Michael,

Driscoll, Anisa,

Franco-Cereceda, Anders,

Loos, Ruth J. F.,

Jiao, Jiao,

Mathis, Michael R.,

Farhat, Linda,

Kitzman, Jacob,

Eagle, Kim A.,

Lettre, Guillaume,

Dubé, Marie-Pierre,

Zhou, Wei,

Guo, Dong-chuan,

Isselbacher, Eric M.,

Ganesh, Santhi K.,

Body, Simon C.,

Kang, Hyun Min,

Prakash, Siddharth,

Heydarpour, Mahyar,

Yang, Bo,

Keavney, Bernard D.,

Bottinger, Erwin P.,

Farnum, Gregory A.,

Lin, Maoxuan,

Cordell, Heather J.,

Goodship, Judith A.,

Chen, Y. Eugene

2017

Overview

Bicuspid 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. Bicuspid aortic valve (BAV) is the most common human congenital cardiovascular malformation. Here, the authors perform a genome-wide association study for BAV and identify risk variants in the gene region of cardiac-specific transcription factor GATA4 and implicate GATA4 in heart valve development.

Share this book

Add to My Shelf

Publisher

Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio

Subject

/ 13/89

/ 14

/ 45

/ 45/43

/ 631/208/205/2138

/ 631/208/4041/3196

/ 692/4019/592/2727