Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Jason M Torres"'
Autor:
Agata Wesolowska-Andersen, Grace Zhuo Yu, Vibe Nylander, Fernando Abaitua, Matthias Thurner, Jason M Torres, Anubha Mahajan, Anna L Gloyn, Mark I McCarthy
Publikováno v:
eLife, Vol 9 (2020)
Genome-wide association analyses have uncovered multiple genomic regions associated with T2D, but identification of the causal variants at these remains a challenge. There is growing interest in the potential of deep learning models - which predict e
Externí odkaz:
https://doaj.org/article/4801b8d1383d4521a94fbd79e1cf8370
Autor:
Matthias Thurner, Martijn van de Bunt, Jason M Torres, Anubha Mahajan, Vibe Nylander, Amanda J Bennett, Kyle J Gaulton, Amy Barrett, Carla Burrows, Christopher G Bell, Robert Lowe, Stephan Beck, Vardhman K Rakyan, Anna L Gloyn, Mark I McCarthy
Publikováno v:
eLife, Vol 7 (2018)
Human genetic studies have emphasised the dominant contribution of pancreatic islet dysfunction to development of Type 2 Diabetes (T2D). However, limited annotation of the islet epigenome has constrained efforts to define the molecular mechanisms med
Externí odkaz:
https://doaj.org/article/db690f11107845c38640398b02088b1a
Autor:
Jason M. Torres, Vibe Nylander, Han Sun, Martijn van de Bunt, Damien J. Downes, Mark I. McCarthy, Jim R. Hughes, Anna L. Gloyn
Publikováno v:
Wellcome Open Research, Vol 8 (2023)
Background: Resolving causal genes for type 2 diabetes at loci implicated by genome-wide association studies (GWAS) requires integrating functional genomic data from relevant cell types. Chromatin features in endocrine cells of the pancreatic islet a
Externí odkaz:
https://doaj.org/article/887578fcac7042d7bd19c922142bef24
Autor:
Katia K. Mattis, Nicole A. J. Krentz, Christoph Metzendorf, Fernando Abaitua, Aliya F. Spigelman, Han Sun, Jennifer M. Ikle, Swaraj Thaman, Antje K. Rottner, Austin Bautista, Eugenia Mazzaferro, Marta Perez-Alcantara, Jocelyn E. Manning Fox, Jason M. Torres, Agata Wesolowska-Andersen, Grace Z. Yu, Anubha Mahajan, Anders Larsson, Patrick E. MacDonald, Benjamin Davies, Marcel den Hoed, Anna L. Gloyn
Publikováno v:
Diabetologia. 66:674-694
Aims/hypothesis Genome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes risk and related glycaemic traits. However, little is known about the function of the zinc finger transcription
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84fa56621fef9812409ed7ea80259057
https://doi.org/10.1007/s00125-022-05856-6
https://doi.org/10.1007/s00125-022-05856-6
Autor:
Alvaro N. Barbeira, Scott P. Dickinson, Rodrigo Bonazzola, Jiamao Zheng, Heather E. Wheeler, Jason M. Torres, Eric S. Torstenson, Kaanan P. Shah, Tzintzuni Garcia, Todd L. Edwards, Eli A. Stahl, Laura M. Huckins, GTEx Consortium, Dan L. Nicolae, Nancy J. Cox, Hae Kyung Im
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-20 (2018)
Phenotypic variation and diseases are influenced by factors such as genetic variants and gene expression. Here, Barbeira et al. develop S-PrediXcan to compute PrediXcan results using summary data, and investigate the effects of gene expression variat
Externí odkaz:
https://doaj.org/article/74f1758878ad410698934b8de48e83e1
Autor:
Abhishek Nag, Ryan S. Dhindsa, Jonathan Mitchell, Chirag Vasavda, Andrew R. Harper, Dimitrios Vitsios, Andrea Ahnmark, Bilada Bilican, Katja Madeyski-Bengtson, Bader Zarrouki, Anthony W. Zoghbi, Quanli Wang, Katherine R. Smith, Jesus Alegre-Díaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M. Torres, Rory Collins, David M. Smith, Benjamin Challis, Dirk S. Paul, Mohammad Bohlooly-Y, Mike Snowden, David Baker, Regina Fritsche-Danielson, Menelas N. Pangalos, Slavé Petrovski
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive carriers of nonsynonymous variants in MAP3K15 were 30% less likely to develop diabetes ( P = 5.7 × 10 −10 ) and had lowe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3a682c76a1eca49d8219fc25c810730
https://doi.org/10.1126/sciadv.add5430
https://doi.org/10.1126/sciadv.add5430
Autor:
Abhishek, Nag, Ryan S, Dhindsa, Jonathan, Mitchell, Chirag, Vasavda, Andrew R, Harper, Dimitrios, Vitsios, Andrea, Ahnmark, Bilada, Bilican, Katja, Madeyski-Bengtson, Bader, Zarrouki, Anthony W, Zoghbi, Quanli, Wang, Katherine R, Smith, Jesus, Alegre-Díaz, Pablo, Kuri-Morales, Jaime, Berumen, Roberto, Tapia-Conyer, Jonathan, Emberson, Jason M, Torres, Rory, Collins, David M, Smith, Benjamin, Challis, Dirk S, Paul, Mohammad, Bohlooly-Y, Mike, Snowden, David, Baker, Regina, Fritsche-Danielson, Menelas N, Pangalos, Slavé, Petrovski
Publikováno v:
Science advances. 8(46)
We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive carriers of nonsynonymous variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c4253917523cf928c5c5687ddd04079e
https://pubmed.ncbi.nlm.nih.gov/36383675
https://pubmed.ncbi.nlm.nih.gov/36383675
Autor:
Robin Walters, Zammy Fairhurst-Hunter, Kuang Lin, Iona Millwood, Alfred Pozarickij, Tzu-Ting Chen, Jason M. Torres, Jian'an Luan, Christiana Kartsonaki, Wei Gan, Anubha Mahajan, Huaidong Du, Rajani Sohoni, Yu Guo, Sam Sansome, Ling Yang, Canqing Yu, Yiping Chen, Jun Lv, Gibran Hemani, Masaru Koido, Yoichiro Kamatani, Cassandra Spracklen, Penny Gordon-Larsen, Mine Koprulu, Xiangrui Meng, Karoline Kuchenbaecker, Segun Fatumo, Laxmi Bhatta, Ben Brumpton, Jesus Alegre-Diaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Sarah Graham, Cristen Willer, Matthew Neville, Fredrik Karpe, Mariaelisa Graff, Kari North, Ruth Loos, Christopher Haiman, Ulrike Peters, Steven Buyske, Christopher Gignoux, Genevieve Wojcik, Yen-Feng Lin, Liming Li, Mark McCarthy, Zhengming Chen, Michael Holmes
Genome-wide association studies (GWAS) in predominately European-ancestry (EUR) populations have identified numerous genetic variants associated with adiposity-related traits. An emerging challenge is the limited transferability of genetic scores con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87711cf804c1ca4164b1c37833c52dd7
https://doi.org/10.21203/rs.3.rs-1832470/v1
https://doi.org/10.21203/rs.3.rs-1832470/v1
Autor:
Katia K Mattis, Nicole AJ Krentz, Christoph Metzendorf, Fernando Abaitua, Aliya F Spigelman, Han Sun, Antje K Rottner, Austin Bautista, Eugenia Mazzaferro, Marta Perez-Alcantara, Jocelyn E Manning Fox, Jason M Torres, Agata Weslowska-Andersen, Grace Z Yu, Anubha Mahajan, Anders Larsson, Patrick E MacDonald, Benjamin Davies, Marcel den Hoed, Anna L Gloyn
Aims/hypothesisGenome-wide studies have uncovered multiple independent signals at the RREB1 locus associated with altered type 2 diabetes risk and related glycemic traits. However, little is known about the function of the zinc finger transcription f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9b14dd72cf45b81955edfc3f7821ec3
https://doi.org/10.1101/2022.06.04.494826
https://doi.org/10.1101/2022.06.04.494826
Autor:
Jack A. Kosmicki, Charles Paulding, Nan Lin, Andrew J. Murphy, Jerome I. Rotter, Brian Zambrowicz, Niek Verweij, Luca A. Lotta, Michal L. Schwartzman, Giusy Della Gatta, Yii-Der Ida Chen, Alexander H. Li, Suganthi Balasubramanian, Jason M. Torres, Hyun Min Kang, Rory Collins, Parsa Akbari, Michael E. Dunn, Gonçalo R. Abecasis, Christian Benner, David J. Carey, Svati H. Shah, Jonathan Marchini, Giovanni Coppola, Marcus B. Jones, Olle Melander, Christopher D. Still, Yi-Ya Fang, Olukayode A. Sosina, Manuel A. R. Ferreira, Roberto Tapia-Conyer, Michael Cantor, Aris N. Economides, Dylan Sun, Adam E. Locke, Jonathan V. Pascale, Daniel J. Rader, Ankit Gilani, Joelle Mbatchou, Jesus Alegre-Díaz, Mark W. Sleeman, Trikaldarshi Persaud, Jeffrey G. Reid, Pablo Kuri-Morales, Jaime Berumen-Campos, John D. Overton, Aris Baras, Ercument Dirice, Sakib Hossain, Alicia Hawes, George D. Yancopoulos, Jonathan Emberson, Victor Garcia, Judith Altarejos, Lori Khrimian, Katia Karalis, William E. Kraus, Tooraj Mirshahi, Kevin Agostinucci, Alan R. Shuldiner
Publikováno v:
Science
Introduction Obesity accounts for a substantial and growing burden of disease globally. Body adiposity is highly heritable, and human genetic studies can lead to biological and therapeutic insights. Rationale Whole-exome sequencing of hundreds of tho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df724bff85dd4d7320fb650eae3fa2a5
https://doi.org/10.1126/science.abf8683
https://doi.org/10.1126/science.abf8683