Results 91 to 100 of about 262,405 (315)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Genetic variation in bovine milk fat composition

, 2009
In her thesis, Stoop shows that there is considerable genetic variation in milk fat composition, which opens opportunities to improve milk fat composition by selective breeding.
Stoop, W.M.
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Supplementation with n-3 long-chain polyunsaturated fatty acids or olive oil in men and women with renal disease induces differential changes in the DNA methylation of FADS2 and ELOVL5 in peripheral blood mononuclear cells

, 2014
BACKGROUND: Studies in animal models and in cultured cells have shown that fatty acids can induce alterations in the DNA methylation of specific genes. There have been no studies of the effects of fatty acid supplementation on the epigenetic regulation ...
Burdge, Graham C., Mori, T.A., Karen A Lillycrop, Samuel P Hoile, Rebecca Clarke-Harris, Clarke-Harris, R., Graham C Burdge, Beilin, L.J., Philip C Calder, Lawrence J Beilin, Calder, P.C., Huang, R.C., Lillycrop, Karen A., Trevor A Mori, Hoile, Samuel P., Rae-Chi Huang   +15 more
core   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Fatty acid reductases (FAR): Insights into the biosynthesis of fatty alcohols in plants and bacteria [PDF]

, 2011
Primary fatty alcohols are present in all phyla, where they serve various unique biological functions, either in structural materials or biochemical compounds.
Doan, Thuy
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The Staphylococcus aureus Response to Unsaturated Long Chain Free Fatty Acids: Survival Mechanisms and Virulence Implications.

, 2009
Staphylococcus aureus is an important human commensal and opportunistic pathogen responsible for a wide range of infections. Long chain unsaturated free fatty acids represent a barrier to colonisation and infection by S.
Horsburgh Malcolm J., Ward, D, Rees, HH, Ward Deborah, Elisabet Josefsson, Kenny John G., Lindsay Jodi A., John G Kenny, Tarkowski Andrej, Horsburgh, MJ, Hinds Jason, Jonsson Ing-Marie, Ing-Marie Jonsson, Huw H Rees, Deborah Ward, Josefsson Elisabet, Tarkowski, A, Lindsay, JA, Malcolm J Horsburgh, Josefsson, E, Kenny, JG, Hinds, J, Jodi A Lindsay, Rees Huw H., Jason Hinds, Andrej Tarkowski, Jonsson, IM   +26 more
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Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Interrelation between gut microbiota, SCFA, and fatty acid composition in pigs

mSystems
The gut microbiota is a key player in the host metabolism. Some bacteria are able to ferment non-digestible compounds and produce short-chain fatty acids that the host can later transform and accumulate in tissue.
Cristina Sebastià, Josep M. Folch, Maria Ballester, Jordi Estellé, Magí Passols, María Muñoz, Juan M. García-Casco, Ana I. Fernández, Anna Castelló, Armand Sánchez, Daniel Crespo-Piazuelo   +10 more
doaj   +1 more source

Fatty Acyl Esters of Hydroxy Fatty Acid (FAHFA) Lipid Families

Metabolites, 2020
Fatty Acyl esters of Hydroxy Fatty Acids (FAHFA) encompass three different lipid families which have incorrectly been classified as wax esters. These families include (i) Branched-chain FAHFAs, involved in the regulation of glucose metabolism and ...
Paul L. Wood
doaj   +1 more source

Effect of Short-Chain Fatty Acid Acetate on Colon Cancer

, 2016
Acetate is a short chain fatty acid produced as a result of fermentation of ingested fibers by the gut microbiota. While it has been shown to reduce cell proliferation in some cancer cell lines1,2, more recent studies on liver3 and brain4 tumours suggest
Sahuri Arisoylu, M., J. D. Bell, Bell, J.D.   +2 more
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