Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Vincent, Dion"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract The contraction of CAG/CTG repeats is an attractive approach to correct the mutation that causes at least 15 neuromuscular and neurodegenerative diseases, including Huntington’s disease and Myotonic Dystrophy type 1. Contractions can be ac
Externí odkaz:
https://doaj.org/article/18056ebe522b4678a7b61f4ef8107959
Publikováno v:
Academic Medicine. 97:747-757
PURPOSE Progress testing is an increasingly popular form of assessment in which a comprehensive test is administered to learners repeatedly over time. To inform potential users, this scoping review aimed to document barriers, facilitators, and potent
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-10 (2016)
The expansion of trinucleotide repeats has been linked to several neurodegenerative disorders. Here, the authors show that the CRISPR-Cas9 nuclease induces both expansions and contractions of the repeat region, whereas the nickase leads predominantly
Externí odkaz:
https://doaj.org/article/9355183cceed4deda6f6dfaa00caf26e
Autor:
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, REGISTRY Investigators of the European Huntington’s disease network, Ioannis Xenarios, Vincent Dion
Publikováno v:
NAR genomics and bioinformatics, vol. 4, no. 4, pp. lqac089
Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more
Publikováno v:
I: Experimental therapeutics – preclinical.
Publikováno v:
C: Genetic modifiers.
Autor:
Vincent Dion, Vanessa C. Wheeler
Publikováno v:
Journal of Huntington's Disease
At fifteen different genomic locations, the expansion of a CAG/CTG repeat causes a neurodegenerative or neuromuscular disease, the most common being Huntington’s disease and myotonic dystrophy type 1. These disorders are characterized by germline a
Autor:
Vincent Dion, Alicia C. Borgeaud, Marcela Buřičová, Cinzia Cinesi, Bin Yang, Tuncay Baubec, Alysha S Taylor, Gustavo A. Ruiz Buendía, Lorène Aeschbach, Oscar Rodriguez-Lima
Publikováno v:
Human molecular genetics, vol. 31, no. 3, pp. 386-398
Expanded CAG/CTG repeat disorders affect over 1 in 2500 individuals worldwide. Potential therapeutic avenues include gene silencing and modulation of repeat instability. However, there are major mechanistic gaps in our understanding of these processe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d614fc2feb2061840a5f176703ab1134
https://orca.cardiff.ac.uk/id/eprint/143789/4/ddab255.pdf
https://orca.cardiff.ac.uk/id/eprint/143789/4/ddab255.pdf
Autor:
Vincent Dion, Laura Heraty
Publikováno v:
C: Genetic modifiers.
Background Longer CAG repeats in the HTT gene causes more severe forms of Huntington’s disease (HD), suggesting that contracting them would provide a much needed therapeutic benefit. We developed the first method to contract expanded repeats in hum
Publikováno v:
Journal of Cultural Heritage. 35:263-270
One of the goals of the Preservation of Plastics Project at the Getty Conservation Institute is to investigate preventative and conservation strategies for objects made of cellulose ester plastics. To achieve this goal, several analytical protocols w