Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Mary E. Haas"'
Autor:
Parsa Akbari, Olukayode A. Sosina, Jonas Bovijn, Karl Landheer, Jonas B. Nielsen, Minhee Kim, Senem Aykul, Tanima De, Mary E. Haas, George Hindy, Nan Lin, Ian R. Dinsmore, Jonathan Z. Luo, Stefanie Hectors, Benjamin Geraghty, Mary Germino, Lampros Panagis, Prodromos Parasoglou, Johnathon R. Walls, Gabor Halasz, Gurinder S. Atwal, Regeneron Genetics Center, DiscovEHR Collaboration, Marcus Jones, Michelle G. LeBlanc, Christopher D. Still, David J. Carey, Alice Giontella, Marju Orho-Melander, Jaime Berumen, Pablo Kuri-Morales, Jesus Alegre-Díaz, Jason M. Torres, Jonathan R. Emberson, Rory Collins, Daniel J. Rader, Brian Zambrowicz, Andrew J. Murphy, Suganthi Balasubramanian, John D. Overton, Jeffrey G. Reid, Alan R. Shuldiner, Michael Cantor, Goncalo R. Abecasis, Manuel A. R. Ferreira, Mark W. Sleeman, Viktoria Gusarova, Judith Altarejos, Charles Harris, Aris N. Economides, Vincent Idone, Katia Karalis, Giusy Della Gatta, Tooraj Mirshahi, George D. Yancopoulos, Olle Melander, Jonathan Marchini, Roberto Tapia-Conyer, Adam E. Locke, Aris Baras, Niek Verweij, Luca A. Lotta
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Fat distribution is associated with cardiometabolic disease, although it has been less well studied than overall obesity. In a multiancestry exome-sequencing study, the authors identified predicted loss-of-function mutations in INHBE associated with
Externí odkaz:
https://doaj.org/article/9f24eb7300be4033aaf87fbf13407526
Autor:
George Hindy, Daniel J. Tyrrell, Alexi Vasbinder, Changli Wei, Feriel Presswalla, Hui Wang, Pennelope Blakely, Ayse Bilge Ozel, Sarah Graham, Grace H. Holton, Joseph Dowsett, Akl C. Fahed, Kingsley-Michael Amadi, Grace K. Erne, Annika Tekmulla, Anis Ismail, Christopher Launius, Nona Sotoodehnia, James S. Pankow, Lise Wegner Thørner, Christian Erikstrup, Ole Birger Pedersen, Karina Banasik, Søren Brunak, Henrik Ullum, Jesper Eugen-Olsen, Sisse Rye Ostrowski, on behalf of the DBDS Consortium, Mary E. Haas, Jonas B. Nielsen, Luca A. Lotta, on behalf of the Regeneron Genetics Center, Gunnar Engström, Olle Melander, Marju Orho-Melander, Lili Zhao, Venkatesh L. Murthy, David J. Pinsky, Cristen J. Willer, Susan R. Heckbert, Jochen Reiser, Daniel R. Goldstein, Karl C. Desch, Salim S. Hayek
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 24 (2022)
People with kidney disease are disproportionately affected by atherosclerosis for unclear reasons. Soluble urokinase plasminogen activator receptor (suPAR) is an immune-derived mediator of kidney disease, levels of which are strongly associated with
Externí odkaz:
https://doaj.org/article/97725ccf03d44b8f8179f849f6db2e96
Autor:
Mary E. Haas, James P. Pirruccello, Samuel N. Friedman, Minxian Wang, Connor A. Emdin, Veeral H. Ajmera, Tracey G. Simon, Julian R. Homburger, Xiuqing Guo, Matthew Budoff, Kathleen E. Corey, Alicia Y. Zhou, Anthony Philippakis, Patrick T. Ellinor, Rohit Loomba, Puneet Batra, Amit V. Khera
Publikováno v:
Cell Genomics, Vol 1, Iss 3, Pp 100066- (2021)
Summary: Excess liver fat, called hepatic steatosis, is a leading risk factor for end-stage liver disease and cardiometabolic diseases but often remains undiagnosed in clinical practice because of the need for direct imaging assessments. We developed
Externí odkaz:
https://doaj.org/article/ce0ff6a4ad504e1ea29d8ed0ca8dce9a
Autor:
Nooshin Ghodsian, Erik Abner, Connor A. Emdin, Émilie Gobeil, Nele Taba, Mary E. Haas, Nicolas Perrot, Hasanga D. Manikpurage, Éloi Gagnon, Jérôme Bourgault, Alexis St-Amand, Christian Couture, Patricia L. Mitchell, Yohan Bossé, Patrick Mathieu, Marie-Claude Vohl, André Tchernof, Sébastien Thériault, Amit V. Khera, Tõnu Esko, Benoit J. Arsenault
Publikováno v:
Cell Reports Medicine, Vol 2, Iss 11, Pp 100437- (2021)
Summary: Non-alcoholic fatty liver disease (NAFLD) is a complex disease linked to several chronic diseases. We aimed at identifying genetic variants associated with NAFLD and evaluating their functional consequences. We performed a genome-wide meta-a
Externí odkaz:
https://doaj.org/article/19e306941a06424da1e769a90f8e839d
Autor:
Paul J. Meakin, Anna Mezzapesa, Eva Benabou, Mary E. Haas, Bernadette Bonardo, Michel Grino, Jean-Michel Brunel, Christèle Desbois-Mouthon, Sudha B. Biddinger, Roland Govers, Michael L. J. Ashford, Franck Peiretti
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
A soluble form of insulin receptor in human plasma has been previously reported. Here the authors demonstrate that insulin receptor is cleaved by BACE1 that can regulate biological active insulin receptor levels in a glucose concentration-dependent m
Externí odkaz:
https://doaj.org/article/527a3cb8a7ee44ba84d8fe3536cdc213
Autor:
Niek Verweij, Mary E. Haas, Jonas B. Nielsen, Olukayode A. Sosina, Minhee Kim, Parsa Akbari, Tanima De, George Hindy, Jonas Bovijn, Trikaldarshi Persaud, Lawrence Miloscio, Mary Germino, Lampros Panagis, Kyoko Watanabe, Joelle Mbatchou, Marcus Jones, Michelle LeBlanc, Suganthi Balasubramanian, Craig Lammert, Sofia Enhörning, Olle Melander, David J. Carey, Christopher D. Still, Tooraj Mirshahi, Daniel J. Rader, Prodromos Parasoglou, Johnathon R. Walls, John D. Overton, Jeffrey G. Reid, Aris Economides, Michael N. Cantor, Brian Zambrowicz, Andrew J. Murphy, Goncalo R. Abecasis, Manuel A.R. Ferreira, Eriks Smagris, Viktoria Gusarova, Mark Sleeman, George D. Yancopoulos, Jonathan Marchini, Hyun M. Kang, Katia Karalis, Alan R. Shuldiner, Giusy Della Gatta, Adam E. Locke, Aris Baras, Luca A. Lotta
Publikováno v:
New England Journal of Medicine. 387:332-344
Autor:
Niek, Verweij, Mary E, Haas, Jonas B, Nielsen, Olukayode A, Sosina, Minhee, Kim, Parsa, Akbari, Tanima, De, George, Hindy, Jonas, Bovijn, Trikaldarshi, Persaud, Lawrence, Miloscio, Mary, Germino, Lampros, Panagis, Kyoko, Watanabe, Joelle, Mbatchou, Marcus, Jones, Michelle, LeBlanc, Suganthi, Balasubramanian, Craig, Lammert, Sofia, Enhörning, Olle, Melander, David J, Carey, Christopher D, Still, Tooraj, Mirshahi, Daniel J, Rader, Prodromos, Parasoglou, Johnathon R, Walls, John D, Overton, Jeffrey G, Reid, Aris, Economides, Michael N, Cantor, Brian, Zambrowicz, Andrew J, Murphy, Goncalo R, Abecasis, Manuel A R, Ferreira, Eriks, Smagris, Viktoria, Gusarova, Mark, Sleeman, George D, Yancopoulos, Jonathan, Marchini, Hyun M, Kang, Katia, Karalis, Alan R, Shuldiner, Giusy, Della Gatta, Adam E, Locke, Aris, Baras, Luca A, Lotta
Publikováno v:
The New England journal of medicine. 387(4)
Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic
Autor:
Kiran J. Biddinger, Connor A. Emdin, Mary E. Haas, Minxian Wang, George Hindy, Patrick T. Ellinor, Sekar Kathiresan, Amit V. Khera, Krishna G. Aragam
Publikováno v:
JAMA network open. 5(3)
Observational studies have consistently proposed cardiovascular benefits associated with light alcohol consumption, while recent genetic analyses (ie, mendelian randomization studies) have suggested a possible causal link between alcohol intake and i
Autor:
Tslil Ast, Shayan Sadre, Pallavi R. Joshi, Owen S. Skinner, Anna V. Kotrys, Melissa A. Walker, Tsz-Leung To, Zenon Grabarek, Hong Wang, Maria Miranda, Wendy H. W. Hung, Joshua D. Meisel, Mary E. Haas, Alexis A. Jourdain, Sneha Rath, Connie Chan, Sharon H. Kim, Chen-Ching Yuan, Hardik Shah, Patrick S. Ward, Timothy J. Durham, Robert S. Rogers, Anupam Patgiri, Rohit Sharma, Russell P. Goodman, Stephanie S Lam, Rahul Gupta, Jason G. McCoy, Sarah E. Calvo, Apekshya Panda, Vamsi K. Mootha, Jordan Wengrod
Publikováno v:
Nucleic Acids Research, vol. 49, no. D1, pp. D1541-D1547
Nucleic Acids Research
Nucleic Acids Research
The mammalian mitochondrial proteome is under dual genomic control, with 99% of proteins encoded by the nuclear genome and 13 originating from the mitochondrial DNA (mtDNA). We previously developed MitoCarta, a catalogue of over 1000 genes encoding t
Autor:
Uyenlinh L. Mirshahi, Ahana Bhan, Lotte E. Tholen, Brian Fang, Guoli Chen, Bryn Moore, Adam Cook, Prince Mohan Anand, Kashyap Patel, Mary E. Haas, Luca A. Lotta, Peter Igarashi, Jeroen H.F. de Baaij, Silvia Ferrè, Joost G.J. Hoenderop, David J. Carey, Alexander R. Chang
Publikováno v:
Kidney International Reports, 7, 9, pp. 2047-2058
Kidney International Reports, 7, 2047-2058
Kidney International Reports, 7, 2047-2058
Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic kidney disease at relatively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4b28c706d48abfe5ce3d07e478b882
https://doi.org/10.1016/j.ekir.2022.06.014
https://doi.org/10.1016/j.ekir.2022.06.014