Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gareth Hawkes"'
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-10 (2024)
Abstract Background Genetic variants that severely alter protein products (e.g. nonsense, frameshift) are often associated with disease. For some genes, these predicted loss-of-function variants (pLoFs) are observed throughout the gene, whilst in oth
Externí odkaz:
https://doaj.org/article/38a6936aa39247d38bb363a5ab54185d
Autor:
Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon, Anna Murray
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Vasomotor symptoms (VMS) can often significantly impact women’s quality of life at menopause. In vivo studies have shown that increased neurokinin B (NKB) / neurokinin 3 receptor (NK3R) signalling contributes to VMS, with previo
Externí odkaz:
https://doaj.org/article/145ca60b899e4205aab6ed58c64c7ff5
Autor:
Carl Delfin, Iulian Dragan, Dmitry Kuznetsov, Juan Fernandez Tajes, Femke Smit, Daniel E. Coral, Ali Farzaneh, André Haugg, Andreas Hungele, Anne Niknejad, Christopher Hall, Daan Jacobs, Diana Marek, Diane P. Fraser, Dorothee Thuillier, Fariba Ahmadizar, Florence Mehl, Francois Pattou, Frederic Burdet, Gareth Hawkes, Ilja C. W. Arts, Jordi Blanch, Johan Van Soest, José-Manuel Fernández-Real, Juergen Boehl, Katharina Fink, Marleen M. J. van Greevenbroek, Maryam Kavousi, Michiel Minten, Nicole Prinz, Niels Ipsen, Paul W. Franks, Rafael Ramos, Reinhard W. Holl, Scott Horban, Talita Duarte-Salles, Van Du T. Tran, Violeta Raverdy, Yenny Leal, Adam Lenart, Ewan Pearson, Thomas Sparsø, Giuseppe N. Giordano, Vassilios Ioannidis, Keng Soh, Timothy M. Frayling, Carel W. Le Roux, Mark Ibberson
Publikováno v:
Life, Vol 14, Iss 2, p 262 (2024)
Obesity is considered by many as a lifestyle choice rather than a chronic progressive disease. The Innovative Medicines Initiative (IMI) SOPHIA (Stratification of Obesity Phenotypes to Optimize Future Obesity Therapy) project is part of a momentum sh
Externí odkaz:
https://doaj.org/article/343e0c783d8e4fc48237db8466dd4363
Autor:
Gareth Hawkes, Loic Yengo, Sailaja Vedantam, Eirini Marouli, Robin N Beaumont, GIANT Consortium, Jessica Tyrrell, Michael N Weedon, Joel Hirschhorn, Timothy M Frayling, Andrew R Wood
Publikováno v:
PLoS Genetics, Vol 19, Iss 9, p e1010934 (2023)
Findings from genome-wide association studies have facilitated the generation of genetic predictors for many common human phenotypes. Stratifying individuals misaligned to a genetic predictor based on common variants may be important for follow-up st
Externí odkaz:
https://doaj.org/article/de75353f177a495d861e3958357fc622
Autor:
Stuart Cannon, Rhian Clissold, Kittiya Sukcharoen, Marcus Tuke, Gareth Hawkes, Robin N Beaumont, Andrew R Wood, Mark Gilchrist, Andrew T Hattersley, Richard A Oram, Kashyap Patel, Caroline Wright, Michael N Weedon
Publikováno v:
Journal of Medical Genetics. 60:491-497
Background17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based cohort.MethodsWe investigated 17q12 CNV using microarra
Autor:
Gareth Hawkes, Robin N. Beaumont, Jessica Tyrrell, Grace M. Power, Andrew Wood, Markku Laakso, Lilian Fernandes Silva, Michael Boehnke, Xianyong Yin, Tom G. Richardson, George Davey Smith, Timothy M. Frayling
Aims/hypothesis Determining how high BMI at different time points influences the risk of developing type 2 diabetes and affects insulin secretion and insulin sensitivity is critical. Methods By estimating childhood BMI in 441,761 individuals in the U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2659::c6afbb24ad727221ed545426c8544007
https://zenodo.org/record/8180549
https://zenodo.org/record/8180549
Autor:
Gareth Hawkes, Robin N Beaumont, Jessica Tyrrell, Grace M Power, Andrew Wood, Markku Laakso, Lilian Fernandes Silva, Michael Boehnke, Xianyong Yin, Tom G Richardson, George Davey Smith, Timothy M Frayling
Publikováno v:
medRxiv
Determining how high body-mass index (BMI) at different time points influences the risk of developing type two diabetes (T2D), and affects insulin secretion and insulin sensitivity, is critical. By estimating childhood BMI in 441,761 individuals in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387f195fc502b775d27acc0ab681aeda
https://europepmc.org/articles/PMC9934707/
https://europepmc.org/articles/PMC9934707/
Autor:
Katherine S. Ruth, Robin N. Beaumont, Jonathan M. Locke, Jessica Tyrrell, Carolyn J. Crandall, Gareth Hawkes, Timothy M. Frayling, Julia K. Prague, Kashyap A. Patel, Andrew R. Wood, Michael N. Weedon, Anna Murray
BackgroundMenopausal vasomotor symptoms (VMS) significantly impact women’s quality of life, and whilst hormone replacement therapy (HRT) is effective, it is not appropriate for all. We aimed to identify new drug targets for VMS and understand reaso
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4619cc96d04501d7e0aeb0e4ed2037b9
https://doi.org/10.1101/2022.05.25.22275501
https://doi.org/10.1101/2022.05.25.22275501