Zobrazeno 1 - 10
of 1 457
pro vyhledávání: '"A. J. Dobson"'
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:
Heather Marriott, Renata Kabiljo, Guy P Hunt, Ahmad Al Khleifat, Ashley Jones, Claire Troakes, Project MinE ALS Sequencing Consortium, TargetALS Sequencing Consortium, Abigail L Pfaff, John P Quinn, Sulev Koks, Richard J Dobson, Patrick Schwab, Ammar Al-Chalabi, Alfredo Iacoangeli
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-20 (2023)
Abstract Amyotrophic lateral sclerosis (ALS) displays considerable clinical and genetic heterogeneity. Machine learning approaches have previously been utilised for patient stratification in ALS as they can disentangle complex disease landscapes. How
Externí odkaz:
https://doaj.org/article/0039ccac3a864796aca41190b1b2c47d
Autor:
James S. Davies, Michael J. Currie, Rachel A. North, Mariafrancesca Scalise, Joshua D. Wright, Jack M. Copping, Daniela M. Remus, Ashutosh Gulati, Dustin R. Morado, Sam A. Jamieson, Michael C. Newton-Vesty, Gayan S. Abeysekera, Subramanian Ramaswamy, Rosmarie Friemann, Soichi Wakatsuki, Jane R. Allison, Cesare Indiveri, David Drew, Peter D. Mace, Renwick C. J. Dobson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Bacteria and archaea use tripartite ATP-independent periplasmic (TRAP) transporters to import essential nutrients. Davies et al. report a high resolution structure of a TRAP and show that it uses an ‘elevator-with-an operator’ mechanism.
Externí odkaz:
https://doaj.org/article/a1b3692949d14006b916bdaba4de7228
Autor:
Adam J Dobson, Susanne Voigt, Luisa Kumpitsch, Lucas Langer, Emmely Voigt, Rita Ibrahim, Damian K Dowling, Klaus Reinhardt
Publikováno v:
PLoS Biology, Vol 21, Iss 8, p e3002218 (2023)
Nutrition is a primary determinant of health, but responses to nutrition vary with genotype. Epistasis between mitochondrial and nuclear genomes may cause some of this variation, but which mitochondrial loci and nutrients participate in complex gene-
Externí odkaz:
https://doaj.org/article/917c5b828f94414397dd0501bb8f4cd3
Publikováno v:
BMC Public Health, Vol 23, Iss 1, Pp 1-12 (2023)
Abstract Background Symptoms can be strong drivers for initiating interaction with the health system, especially when they are frequent, severe or impact on daily activities. Research on symptoms often use counts of symptoms as a proxy for symptom bu
Externí odkaz:
https://doaj.org/article/2d0b4fa1e9594a0390dbfd333f59b557
Autor:
Nazli Farajidavar, Kevin O’Gallagher, Daniel Bean, Adam Nabeebaccus, Rosita Zakeri, Daniel Bromage, Zeljko Kraljevic, James T. H. Teo, Richard J. Dobson, Ajay M. Shah
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-13 (2022)
Abstract Background Heart failure with preserved ejection fraction (HFpEF) is thought to be highly prevalent yet remains underdiagnosed. Evidence-based treatments are available that increase quality of life and decrease hospitalization. We sought to
Externí odkaz:
https://doaj.org/article/ca4a25815785445ebf16cbaf26aa26af
Autor:
Joshua Au Yeung, Zeljko Kraljevic, Akish Luintel, Alfred Balston, Esther Idowu, Richard J. Dobson, James T. Teo
Publikováno v:
Frontiers in Digital Health, Vol 5 (2023)
As large language models (LLMs) expand and become more advanced, so do the natural language processing capabilities of conversational AI, or “chatbots”. OpenAI's recent release, ChatGPT, uses a transformer-based model to enable human-like text ge
Externí odkaz:
https://doaj.org/article/c5e8d07770584162b9369e0aa4a8a5b5
Autor:
Claude Meffan, Julian Menges, Fabian Dolamore, Daniel Mak, Conan Fee, Renwick C. J. Dobson, Volker Nock
Publikováno v:
Microsystems & Nanoengineering, Vol 8, Iss 1, Pp 1-13 (2022)
Abstract Controlling fluid flow in capillaric circuits is a key requirement to increase their uptake for assay applications. Capillary action off-valves provide such functionality by pushing an occluding bubble into the channel using a difference in
Externí odkaz:
https://doaj.org/article/94db9269e6b44ba0b803fda823d597b3
Autor:
Gayan S. Abeysekera, Michael J. Love, Sarah H. Manners, Craig Billington, Renwick C. J. Dobson
Publikováno v:
Frontiers in Microbiology, Vol 13 (2022)
Holins and spanins are bacteriophage-encoded membrane proteins that control bacterial cell lysis in the final stage of the bacteriophage reproductive cycle. Due to their efficient mechanisms for lethal membrane disruption, these proteins are gaining
Externí odkaz:
https://doaj.org/article/3f0bb5580c8b49c7be4ff093b977739d
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Polypharmacy is commonly defined based on the number of medications taken concurrently using standard cut-offs, but several studies have highlighted the need for a multidimensional assessment. We developed a multidimensional measure of polyp
Externí odkaz:
https://doaj.org/article/ca8001ffc7544f6da6e6de535fb2c936