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61.
Katja Kobow Christopher A. Reid Erwin A. van Vliet Albert J. Becker Gemma L. Carvill Alica M. Goldman Shinichi Hirose Iscia Lopes-Cendes Hela Mrabet Khiari Annapurna Poduri Michael R. Johnson David C. Henshall 《Epileptic Disord》2020,22(2):127-141
Epigenetics refers broadly to processes that influence medium to long‐term gene expression by changing the readability and accessibility of the genetic code. The Neurobiology Commission of the International League Against Epilepsy (ILAE) recently convened a Task Force to explore and disseminate advances in epigenetics to better understand their role and intersection with genetics and the neurobiology of epilepsies and their co‐morbidities, and to accelerate translation of these findings into the development of better therapies. Here, we provide a topic primer on epigenetics, explaining the key processes and findings to date in experimental and human epilepsy. We review the growing list of genes with epigenetic functions that have been linked with epilepsy in humans. We consider potential practical applications, including using epigenetic signals as biomarkers for tissue‐ and biofluid‐based diagnostics and the prospects for developing epigenetic‐based treatments for epilepsy. We include a glossary of terms, FAQs and other supports to facilitate a broad understanding of the topic for the non‐expert. Last, we review the limitations, research gaps and the next challenges. In summary, epigenetic processes represent important mechanisms controlling the activity of genes, providing opportunities for insight into disease mechanisms, biomarkers and novel therapies for epilepsy. 相似文献
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Robert J. Motzer MD Bernard Escudier MD Saby George MD Hans J. Hammers MD PhD Sandhya Srinivas MD Scott S. Tykodi MD PhD Jeffrey A. Sosman MD Elizabeth R. Plimack MD Giuseppe Procopio MD David F. McDermott MD Daniel Castellano MD Toni K. Choueiri MD Frede Donskov MD PhD Howard Gurney MD Stéphane Oudard MD Martin Richardet MD PhD Katriina Peltola MD PhD Ajjai S. Alva MD Michael Carducci MD John Wagstaff MD Christine Chevreau MD Satoshi Fukasawa MD Yoshihiko Tomita MD PhD Thomas C. Gauler MD Christian K. Kollmannsberger MD Fabio A. Schutz PhD James Larkin MD PhD David Cella PhD M. Brent McHenry PhD Shruti Shally Saggi BEng Nizar M. Tannir MD 《Cancer》2020,126(18):4156-4167
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Sebastian P. Mondaca MD Dazhi Liu PharmD BCOP Jessica R. Flynn Sandy Badson Stefan Hamaway BS Mrinal M. Gounder MD Danny N. Khalil MD PhD Alexander E. Drilon MD Bob T. Li MD MPH Komal L. Jhaveri MD Alison M. Schram MD Katherine E. Kargus RN Mary Kate Kasler DNP MSN Natalie M. Blauvelt Neil H. Segal MD PhD Marinela Capanu PhD Margaret K. Callahan MD PhD David M. Hyman MD Maya Gambarin-Gelwan MD James J. Harding MD 《Cancer》2020,126(22):4967-4974
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David M. Presby Michael C. Rudolph Vanessa D. Sherk Matthew R. Jackman Rebecca M. Foright Kenneth L. Jones Julie A. Houck Ginger C. Johnson Janine A. Higgins P. Darrell Neufer Robert H. Eckel Paul S. MacLean 《Diabetes》2021,70(4):867
Moderate weight loss improves numerous risk factors for cardiometabolic disease; however, long-term weight loss maintenance (WLM) is often thwarted by metabolic adaptations that suppress energy expenditure and facilitate weight regain. Skeletal muscle has a prominent role in energy homeostasis; therefore, we investigated the effect of WLM and weight regain on skeletal muscle in rodents. In skeletal muscle of obesity-prone rats, WLM reduced fat oxidative capacity and downregulated genes involved in fat metabolism. Interestingly, even after weight was regained, genes involved in fat metabolism were also reduced. We then subjected mice with skeletal muscle lipoprotein lipase overexpression (mCK-hLPL), which augments fat metabolism, to WLM and weight regain and found that mCK-hLPL attenuates weight regain by potentiating energy expenditure. Irrespective of genotype, weight regain suppressed dietary fat oxidation and downregulated genes involved in fat metabolism in skeletal muscle. However, mCK-hLPL mice oxidized more fat throughout weight regain and had greater expression of genes involved in fat metabolism and lower expression of genes involved in carbohydrate metabolism during WLM and regain. In summary, these results suggest that skeletal muscle fat oxidation is reduced during WLM and regain, and therapies that improve skeletal muscle fat metabolism may attenuate rapid weight regain. 相似文献
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PNPLA3 gene polymorphism and response to lifestyle modification in patients with nonalcoholic fatty liver disease 下载免费PDF全文
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Laurie Lovett Novak Jonathan Wanderer David A. Owens Daniel Fabbri Julian Z. Genkins Thomas A. Lasko 《Applied clinical informatics》2021,12(1):164
Background The data visualization literature asserts that the details of the optimal data display must be tailored to the specific task, the background of the user, and the characteristics of the data. The general organizing principle of a concept-oriented display is known to be useful for many tasks and data types. Objectives In this project, we used general principles of data visualization and a co-design process to produce a clinical display tailored to a specific cognitive task, chosen from the anesthesia domain, but with clear generalizability to other clinical tasks. To support the work of the anesthesia-in-charge (AIC) our task was, for a given day, to depict the acuity level and complexity of each patient in the collection of those that will be operated on the following day. The AIC uses this information to optimally allocate anesthesia staff and providers across operating rooms. Methods We used a co-design process to collaborate with participants who work in the AIC role. We conducted two in-depth interviews with AICs and engaged them in subsequent input on iterative design solutions. Results Through a co-design process, we found (1) the need to carefully match the level of detail in the display to the level required by the clinical task, (2) the impedance caused by irrelevant information on the screen such as icons relevant only to other tasks, and (3) the desire for a specific but optional trajectory of increasingly detailed textual summaries. Conclusion This study reports a real-world clinical informatics development project that engaged users as co-designers. Our process led to the user-preferred design of a single binary flag to identify the subset of patients needing further investigation, and then a trajectory of increasingly detailed, text-based abstractions for each patient that can be displayed when more information is needed. 相似文献