Zobrazeno 1 - 10
of 400
pro vyhledávání: '"Regeneron Genetics Center"'
Autor:
Leonida Hehl, Kate T. Creasy, Cecilia Vitali, Eleonora Scorletti, Katharina S. Seeling, Mara S. Vell, Miriam D. Rendel, Donna Conlon, Regeneron Genetics Center, Marijana Vujkovic, Inuk Zandvakili, Christian Trautwein, Kai M. Schneider, Daniel J. Rader, Carolin V. Schneider
Publikováno v:
Hepatology Communications, Vol 8, Iss 5 (2024)
Background:. Common variants of the max-like protein X (MLX)-interacting protein-like (MLXIPL) gene, encoding the transcription factor carbohydrate-responsive element-binding protein, have been shown to be associated with plasma triglyceride levels.
Externí odkaz:
https://doaj.org/article/183435d2206a42fdbf55f5d2b4325b1c
Autor:
Rosalie B. T. M. Sterenborg, Inga Steinbrenner, Yong Li, Melissa N. Bujnis, Tatsuhiko Naito, Eirini Marouli, Tessel E. Galesloot, Oladapo Babajide, Laura Andreasen, Arne Astrup, Bjørn Olav Åsvold, Stefania Bandinelli, Marian Beekman, John P. Beilby, Jette Bork-Jensen, Thibaud Boutin, Jennifer A. Brody, Suzanne J. Brown, Ben Brumpton, Purdey J. Campbell, Anne R. Cappola, Graziano Ceresini, Layal Chaker, Daniel I. Chasman, Maria Pina Concas, Rodrigo Coutinho de Almeida, Simone M. Cross, Francesco Cucca, Ian J. Deary, Alisa Devedzic Kjaergaard, Justin B. Echouffo Tcheugui, Christina Ellervik, Johan G. Eriksson, Luigi Ferrucci, Jan Freudenberg, GHS DiscovEHR, Regeneron Genetics Center, Christian Fuchsberger, Christian Gieger, Franco Giulianini, Martin Gögele, Sarah E. Graham, Niels Grarup, Ivana Gunjača, Torben Hansen, Barbara N. Harding, Sarah E. Harris, Stig Haunsø, Caroline Hayward, Jennie Hui, Till Ittermann, J. Wouter Jukema, Eero Kajantie, Jørgen K. Kanters, Line L. Kårhus, Lambertus A. L. M. Kiemeney, Margreet Kloppenburg, Brigitte Kühnel, Jari Lahti, Claudia Langenberg, Bruno Lapauw, Graham Leese, Shuo Li, David C. M. Liewald, Allan Linneberg, Jesus V. T. Lominchar, Jian’an Luan, Nicholas G. Martin, Antonela Matana, Marcel E. Meima, Thomas Meitinger, Ingrid Meulenbelt, Braxton D. Mitchell, Line T. Møllehave, Samia Mora, Silvia Naitza, Matthias Nauck, Romana T. Netea-Maier, Raymond Noordam, Casia Nursyifa, Yukinori Okada, Stefano Onano, Areti Papadopoulou, Colin N. A. Palmer, Cristian Pattaro, Oluf Pedersen, Annette Peters, Maik Pietzner, Ozren Polašek, Peter P. Pramstaller, Bruce M. Psaty, Ante Punda, Debashree Ray, Paul Redmond, J. Brent Richards, Paul M. Ridker, Tom C. Russ, Kathleen A. Ryan, Morten Salling Olesen, Ulla T. Schultheiss, Elizabeth Selvin, Moneeza K. Siddiqui, Carlo Sidore, P. Eline Slagboom, Thorkild I. A. Sørensen, Enrique Soto-Pedre, Tim D. Spector, Beatrice Spedicati, Sundararajan Srinivasan, John M. Starr, David J. Stott, Toshiko Tanaka, Vesela Torlak, Stella Trompet, Johanna Tuhkanen, André G. Uitterlinden, Erik B. van den Akker, Tibbert van den Eynde, Melanie M. van der Klauw, Diana van Heemst, Charlotte Verroken, W. Edward Visser, Dina Vojinovic, Henry Völzke, Melanie Waldenberger, John P. Walsh, Nicholas J. Wareham, Stefan Weiss, Cristen J. Willer, Scott G. Wilson, Bruce H. R. Wolffenbuttel, Hanneke J. C. M. Wouters, Margaret J. Wright, Qiong Yang, Tatijana Zemunik, Wei Zhou, Gu Zhu, Sebastian Zöllner, Johannes W. A. Smit, Robin P. Peeters, Anna Köttgen, Alexander Teumer, Marco Medici
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract To date only a fraction of the genetic footprint of thyroid function has been clarified. We report a genome-wide association study meta-analysis of thyroid function in up to 271,040 individuals of European ancestry, including reference range
Externí odkaz:
https://doaj.org/article/87582eb11e3e4880b14ffaaf73048c8f
Autor:
Sahar Gelfman, Arden Moscati, Santiago Mendez Huergo, Rujin Wang, Veera Rajagopal, Neelroop Parikshak, Vijay Kumar Pounraja, Esteban Chen, Michelle Leblanc, Ralph Hazlewood, Jan Freudenberg, Blerta Cooper, Ann J. Ligocki, Charles G. Miller, Tavé Van Zyl, Jonathan Weyne, Carmelo Romano, Botir Sagdullaev, Olle Melander, Aris Baras, Regeneron Genetics Center, Eli A. Stahl, Giovanni Coppola
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts consisting of 3,850 cases and
Externí odkaz:
https://doaj.org/article/2a6f67c11f6f43db8996c9159e2e7bb2
Autor:
Megan T. Lynch, Kristin A. Maloney, Huichun Xu, James A. Perry, Regeneron Genetics Center, Alan R. Shuldiner, Braxton D. Mitchell
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background: Autozygosity, the proportion of the genome that is homozygous by descent, has been associated with variation in multiple health-related traits impacting evolutionary fitness. Autozygosity (FROH) is typically measured from runs of
Externí odkaz:
https://doaj.org/article/6bf9374a95e0483db170da89ad992e08
Autor:
Mohammad Shahbazi, Xindi Zhang, Paul C. Dinh, Victoria A. Sanchez, Matthew R. Trendowski, Megan M. Shuey, Tessa Nguyen, Regeneron Genetics Center, Darren R. Feldman, David J. Vaughn, Chunkit Fung, Christian Kollmannsberger, Neil E. Martin, Lawrence H. Einhorn, Nancy J. Cox, Robert D. Frisina, Lois B. Travis, Mary Eileen Dolan
Publikováno v:
Cancer Medicine, Vol 12, Iss 3, Pp 2999-3012 (2023)
Abstract Purpose Deficits in speech understanding constitute one of the most severe consequences of hearing loss. Here we investigate the clinical and genetic risk factors for symmetric deterioration of speech recognition thresholds (SRT) among cance
Externí odkaz:
https://doaj.org/article/aedaa37449a4452f9310279b835a3e66
Autor:
Shefali S. Verma, Karl Keat, Binglan Li, Glenda Hoffecker, Marjorie Risman, Regeneron Genetics Center, Katrin Sangkuhl, Michelle Whirl-Carrillo, Scott Dudek, Anurag Verma, Teri E. Klein, Marylyn D. Ritchie, Sony Tuteja
Publikováno v:
Journal of Translational Medicine, Vol 20, Iss 1, Pp 1-15 (2022)
Abstract Background Pharmacogenomics (PGx) aims to utilize a patient’s genetic data to enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics Implementation Consortium (CPIC) provides guidelines with strong eviden
Externí odkaz:
https://doaj.org/article/7b44106170c24e29b9e24c494b97cbfb
Autor:
Michael G. Levin, Noah L. Tsao, Pankhuri Singhal, Chang Liu, Ha My T. Vy, Ishan Paranjpe, Joshua D. Backman, Tiffany R. Bellomo, William P. Bone, Kiran J. Biddinger, Qin Hui, Ozan Dikilitas, Benjamin A. Satterfield, Yifan Yang, Michael P. Morley, Yuki Bradford, Megan Burke, Nosheen Reza, Brian Charest, Regeneron Genetics Center, Renae L. Judy, Megan J. Puckelwartz, Hakon Hakonarson, Atlas Khan, Leah C. Kottyan, Iftikhar Kullo, Yuan Luo, Elizabeth M. McNally, Laura J. Rasmussen-Torvik, Sharlene M. Day, Ron Do, Lawrence S. Phillips, Patrick T. Ellinor, Girish N. Nadkarni, Marylyn D. Ritchie, Zoltan Arany, Thomas P. Cappola, Kenneth B. Margulies, Krishna G. Aragam, Christopher M. Haggerty, Jacob Joseph, Yan V. Sun, Benjamin F. Voight, Scott M. Damrauer
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Heart failure is a major cause of cardiovascular morbidity and mortality. Here, the authors report results of a genome-wide association study meta-analysis, characterizing the role of common genetic variants in heart failure, finding overlap with com
Externí odkaz:
https://doaj.org/article/2a5c23e2c7b142b5961a518b4d904c75
Publikováno v:
Cardiovascular Diabetology, Vol 21, Iss 1, Pp 1-10 (2022)
Abstract Aims Reduced lung function and adverse health outcomes are often observed. This study characterizes genetic susceptibility for reduced lung function and risk of developing a range of adverse health outcomes. Methods We studied 27,438 middle-
Externí odkaz:
https://doaj.org/article/2f6e74984382411f8cb80ac633e8aa1f
Autor:
Kavita Praveen, Gaurang C. Patel, Lauren Gurski, Ariane H. Ayer, Trikaladarshi Persaud, Matthew D. Still, Lawrence Miloscio, Tavé Van Zyl, Silvio Alessandro Di Gioia, Ben Brumpton, Kristi Krebs, Bjørn Olav Åsvold, Esteban Chen, Venkata R. M. Chavali, Wen Fury, Harini V. Gudiseva, Sarah Hyde, Eric Jorgenson, Stephanie Lefebvre, Dadong Li, Alexander Li, James Mclninch, Brijeshkumar Patel, Jeremy S. Rabinowitz, Rebecca Salowe, Claudia Schurmann, Anne-Sofie Seidelin, Eli Stahl, Dylan Sun, Tanya M. Teslovich, Anne Tybjærg-Hansen, Cristen Willer, Scott Waldron, Sabrina Walley, Hua Yang, Sarthak Zaveri, Regeneron Genetics Center, GHS-RGC DiscovEHR Collaboration, Estonian Biobank Research Team, Ying Hu, Kristian Hveem, Olle Melander, Lili Milani, Stefan Stender, Joan M. O’Brien, Marcus B. Jones, Gonçalo R. Abecasis, Michael N. Cantor, Jonathan Weyne, Katia Karalis, Aris Economides, Giusy Della Gatta, Manuel A. Ferreira, George D. Yancopoulos, Aris Baras, Carmelo Romano, Giovanni Coppola
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-15 (2022)
Rare variant association data from human genetics combined with in vitro and in vivo functional validation highlight ANGPTL7 as a promising therapeutic target for intraocular pressure reduction, and protection from glaucoma.
Externí odkaz:
https://doaj.org/article/bf2cad284dd24cb3b77f0086f2b2543b
Autor:
Taylor B. Cavazos, Linda Kachuri, Rebecca E. Graff, Jovia L. Nierenberg, Khanh K. Thai, Stacey Alexeeff, Stephen Van Den Eeden, Douglas A. Corley, Lawrence H. Kushi, Regeneron Genetics Center, Thomas J. Hoffmann, Elad Ziv, Laurel A. Habel, Eric Jorgenson, Lori C. Sakoda, John S. Witte
Publikováno v:
BMC Medicine, Vol 20, Iss 1, Pp 1-12 (2022)
Abstract Background Up to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to the development of multiple primary cancers, beyond known cancer syndro
Externí odkaz:
https://doaj.org/article/0d504290c7dd4cca98989c8be7a2c3c4