Zobrazeno 1 - 10
of 13 683
pro vyhledávání: '"J, Shaw"'
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Autor:
Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angyal, Thushan de Silva, Adrian Higginbottom, Pamela J Shaw, Laura Ferraiuolo, Darius Ebrahimi-Fakhari, Mimoun Azzouz
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)
Abstract Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency. SPG47 is characterised by progressive spastic paraplegia, global devel
Externí odkaz:
https://doaj.org/article/7525f462e89f4274b18148dc6adcb126
Autor:
Miriam E. Bocarsly, Marlisa J. Shaw, Emilya Ventriglia, Lucy G. Anderson, Hannah C. Goldbach, Catherine E. Teresi, Marilyn Bravo, Roland Bock, Patrick Hong, Han Bin Kwon, Imran M. Khawaja, Rishi Raman, Erin M. Murray, Jordi Bonaventura, Dennis A. Burke, Michael Michaelides, Veronica A. Alvarez
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Alcohol use disorder (AUD) is frequently comorbid with anxiety disorders, yet whether alcohol abuse precedes or follows the expression of anxiety remains unclear. Rodents offer control over the first drink, an advantage when testing the caus
Externí odkaz:
https://doaj.org/article/d3eee13642854c589c2a87a071b92e5c
Autor:
Corrine I. Voils, Ryan J. Shaw, Kara L. Gavin, Scott J. Hetzel, Megan A. Lewis, Samantha Pabich, Heather M. Johnson, Felix Elwert, Lu Mao, Kristen E. Gray, Alice Yuroff, Katya Garza, William S. Yancy, Laura S. Porter
Publikováno v:
BMC Public Health, Vol 24, Iss 1, Pp 1-17 (2024)
Abstract Background Partner support is associated with better weight loss outcomes in observational studies, but randomized trials show mixed results for including partners. Unclear is whether teaching communication skills to couples will improve wei
Externí odkaz:
https://doaj.org/article/5c04d7572b54482d9105a016e1c9d5b9
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Autor:
Safaa Al Jedani, Cassio Lima, Caroline I. Smith, Philip J. Gunning, Richard J. Shaw, Steve D. Barrett, Asterios Triantafyllou, Janet M. Risk, Royston Goodacre, Peter Weightman
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract In this study, optical photothermal infrared (O-PTIR) spectroscopy combined with machine learning algorithms were used to evaluate 46 tissue cores of surgically resected cervical lymph nodes, some of which harboured oral squamous cell carcin
Externí odkaz:
https://doaj.org/article/ad74e1f542784fe9854419e35860e4ab
Autor:
S. M. Ferreira, M. ’t Sas‐Rolfes, D. Balfour, C. Barichievy, G. Chege, C. Dean, N. Doak, H. T. Dublin, R. duToit, S. Ellis, R. H. Emslie, J. Flamand, M. Gadd, J. Gaymer, M. Hofmeyr, M. Knight, Y. Moodley, J. Shaw, L. Versteege, L. Vigne, F. vonHouwald, S. Uri‐Khob, K. Mosweu
Publikováno v:
People and Nature, Vol 6, Iss 3, Pp 1015-1018 (2024)
Abstract Image‐based analyses from an online repository on rhino horns asserted that declines in size over time could be the consequence of poaching and hunting. We provide reflections on whether the sample was representative enough to make general
Externí odkaz:
https://doaj.org/article/c1c2914d34534f35afba85709efbf2d9
Autor:
Xiaomeng Wang, Ching H. Sia, Philip D. Adamson, Charlotte E. Greer, Weimin Huang, Hwee K. Lee, Shuang Leng, Yan T. Loong, Nur A. S. Raffiee, Swee Y. Tan, Sock H. Tan, Lynette L. S. Teo, Sung L. Wong, Xiaoxun Yang, Min S. Yew, Thon H. Yong, Liang Zhong, Leslee J. Shaw, Mark Y. Y. Chan, Derek J. Hausenloy, Lohendran Baskaran
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Background The comparison of coronary computed tomography angiography plaques and perivascular adipose tissue (PVAT) between patients with acute myocardial infarction (AMI) posttreatment and patients with stable coronary artery disease is poorly unde
Externí odkaz:
https://doaj.org/article/f0cf04fe418e4c6d84bbaa7b15b9c160
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Triple negative breast cancer (TNBC) is known for its heterogeneous nature and aggressive onset, limited unresponsiveness to hormone therapies and immunotherapy as well as high likelihood of metastasis and recurrence. Since no targeted standard treat
Externí odkaz:
https://doaj.org/article/2ff74aefa5424ce48181938ea2e89723
Autor:
Hailey N Miller, Sandy Askew, Miriam B Berger, Elizabeth Trefney, Loneke T Blackman Carr, Melissa C Kay, Cherie Barnes, Qing Yang, Crystal C Tyson, Laura Svetkey, Ryan J Shaw, Dori M Steinberg, Gary G Bennett
Publikováno v:
Digital Health, Vol 10 (2024)
Introduction Clinical trials often enroll nonrepresentative participant samples, limiting generalizability of trial findings. The current analysis explores the influences of remote recruitment and screening protocols on participation in a digital hea
Externí odkaz:
https://doaj.org/article/728daaa4248b4b6d9b98924ee637658b
Autor:
Annalisa Filtz, Daniel Lorenzatti, Andrea Scotti, Pamela Piña, Carol Fernandez-Hazim, Dou Huang, Paul Ippolito, John P Skendelas, Toshiki Kuno, Carlos J Rodriguez, Aldo L Schenone, Azeem Latib, Carl J Lavie, Leslee J. Shaw, Ron Blankstein, Michael D Shapiro, Mario J Garcia, Daniel S Berman, Damini Dey, Salim S Virani, Leandro Slipczuk
Publikováno v:
American Journal of Preventive Cardiology, Vol 19, Iss , Pp 100711- (2024)
Objective: Epicardial adipose tissue (EAT) is implicated in the pathogenesis and progression of coronary artery disease (CAD). Limited data exists on the interplay between EAT and atherosclerosis in young individuals. Our study aims to explore the re
Externí odkaz:
https://doaj.org/article/05bd42bf4381462f98e1543ee7f70764