Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Sean J. Jurgens"'
Autor:
James P. Pirruccello, Paolo Di Achille, Seung Hoan Choi, Joel T. Rämö, Shaan Khurshid, Mahan Nekoui, Sean J. Jurgens, Victor Nauffal, Shinwan Kany, FinnGen, Kenney Ng, Samuel F. Friedman, Puneet Batra, Kathryn L. Lunetta, Aarno Palotie, Anthony A. Philippakis, Jennifer E. Ho, Steven A. Lubitz, Patrick T. Ellinor
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Increased left atrial volume and decreased left atrial function have long been associated with atrial fibrillation. The availability of large-scale cardiac magnetic resonance imaging data paired with genetic data provides a unique opportunit
Externí odkaz:
https://doaj.org/article/28dcb362d1d747399f72a9d9686b4b32
Autor:
Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract While 3D chromatin organization in topologically associating domains (TADs) and loops mediating regulatory element-promoter interactions is crucial for tissue-specific gene regulation, the extent of their involvement in human Mendelian disea
Externí odkaz:
https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4
Autor:
Erik Schoenmakers, Federica Marelli, Helle F. Jørgensen, W. Edward Visser, Carla Moran, Stefan Groeneweg, Carolina Avalos, Sean J. Jurgens, Nichola Figg, Alison Finigan, Neha Wali, Maura Agostini, Hannah Wardle-Jones, Greta Lyons, Rosemary Rusk, Deepa Gopalan, Philip Twiss, Jacob J. Visser, Martin Goddard, Samer A. M. Nashef, Robin Heijmen, Paul Clift, Sanjay Sinha, James P. Pirruccello, Patrick T. Ellinor, Elisabeth M. Busch-Nentwich, Ramiro Ramirez-Solis, Michael P. Murphy, Luca Persani, Martin Bennett, Krishna Chatterjee
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-14 (2023)
Abstract Aortic aneurysms, which may dissect or rupture acutely and be lethal, can be a part of multisystem disorders that have a heritable basis. We report four patients with deficiency of selenocysteine-containing proteins due to selenocysteine Ins
Externí odkaz:
https://doaj.org/article/9890b834ab67406cacc92d0ad7bdebb8
Autor:
John Mauleekoonphairoj, Sissades Tongsima, Apichai Khongphatthanayothin, Sean J. Jurgens, Dominic S. Zimmerman, Boosamas Sutjaporn, Pharawee Wandee, Connie R. Bezzina, Koonlawee Nademanee, Yong Poovorawan
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-8 (2023)
Abstract Variant imputation, a common practice in genome-wide association studies, relies on reference panels to infer unobserved genotypes. Multiple public reference panels are currently available with variations in size, sequencing depth, and repre
Externí odkaz:
https://doaj.org/article/032ec8fe9d0c4691961a6891be021e8b
Autor:
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome I. Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Accurate classification of genetic variants is critical for research and patient care. Here, the authors report that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide support for va
Externí odkaz:
https://doaj.org/article/816988c3c3b240bbb3a8c919e46440d7
Autor:
Saaket Agrawal, Minxian Wang, Marcus D. R. Klarqvist, Kirk Smith, Joseph Shin, Hesam Dashti, Nathaniel Diamant, Seung Hoan Choi, Sean J. Jurgens, Patrick T. Ellinor, Anthony Philippakis, Melina Claussnitzer, Kenney Ng, Miriam S. Udler, Puneet Batra, Amit V. Khera
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
The inherited basis of body fat distribution is not fully understood. Here, the authors use genetic data and MRI-derived measures of local adiposity to highlight fat depot-specific genetic architecture with implications for cardiometabolic health.
Externí odkaz:
https://doaj.org/article/708f44bb6b094581a53300838b54ced3
Autor:
Stephanie M. van der Voorn, Esmée van Drie, Virginnio Proost, Kristina Dimitrova, Netherlands ACM/PLN Registry, Robert F. Ernst, Cynthia A. James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M. Saguner, Firat Duru, Patrick T. Ellinor, Connie R. Bezzina, Sean J. Jurgens, J. Peter van Tintelen, Toon A. B. van Veen
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15931 (2023)
Inherited forms of arrhythmogenic and dilated cardiomyopathy (ACM and DCM) are characterized by variable disease expression and age-related penetrance. Calcium (Ca2+) is crucially important for proper cardiac function, and dysregulation of Ca2+ homeo
Externí odkaz:
https://doaj.org/article/78c0eb4720ce4bc38ab6e64bf23f581a
Autor:
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome I. Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-1 (2022)
Externí odkaz:
https://doaj.org/article/001990be3a844416bee130cfd57f4151
Publikováno v:
Physiological reviews. 103(3):2039-2055
Genome-wide association studies (GWAS) aim to identify common genetic variants that are associated with traits and diseases. Since 2005, more than 5,000 GWAS have been published for almost as many traits. These studies have offered insights into the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0554062b68902e4853087075af92a32
http://www.scopus.com/inward/record.url?scp=85152977178&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85152977178&partnerID=8YFLogxK
Autor:
Julieta Lazarte, Sean J. Jurgens, Seung Hoan Choi, Shaan Khurshid, Valerie N. Morrill, Lu-Chen Weng, Victor Nauffal, James P. Pirruccello, Jennifer L. Halford, Robert A. Hegele, Patrick T. Ellinor, Kathryn L. Lunetta, Steven A. Lubitz
Publikováno v:
Journal of the American College of Cardiology, 80(1), 50-59. Elsevier USA
Background: Genetic variants in LMNA may cause cardiac disease, but population-level contributions of variants to cardiac disease burden are not well-characterized. Objectives: We sought to determine the frequency and contribution of rare LMNA varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::418d1c357a682a2ca43f3b10ad55a0bd
https://doi.org/10.1016/j.jacc.2022.04.035
https://doi.org/10.1016/j.jacc.2022.04.035