Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Marc, Ciosi"'
Autor:
Jessica Dawson, Fiona K. Baine-Savanhu, Marc Ciosi, Alastair Maxwell, Darren G. Monckton, Amanda Krause
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100130- (2022)
Summary: Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicte
Externí odkaz:
https://doaj.org/article/fb901a877a004aa2917e333a9bf27205
DNA methylation study of Huntington’s disease and motor progression in patients and in animal models
Autor:
Ake T. Lu, Pritika Narayan, Matthew J. Grant, Peter Langfelder, Nan Wang, Seung Kwak, Hilary Wilkinson, Richard Z. Chen, Jian Chen, C. Simon Bawden, Skye R. Rudiger, Marc Ciosi, Afroditi Chatzi, Alastair Maxwell, Timothy A. Hore, Jeff Aaronson, Jim Rosinski, Alicia Preiss, Thomas F. Vogt, Giovanni Coppola, Darren Monckton, Russell G. Snell, X. William Yang, Steve Horvath
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Although Huntington’s disease (HD) is a well-studied genetic disorder, less is known about the epigenetic changes underlying it. Here, the authors characterize DNA methylation levels in tissues from patients, a mouse huntingtin (Htt) gene knock-in
Externí odkaz:
https://doaj.org/article/9415f3c0bb6441ffad6d13aeb09b8ee8
Autor:
Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael D. Flower, Alexandra Durr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton
Publikováno v:
EBioMedicine, Vol 48, Iss , Pp 568-580 (2019)
Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CA
Externí odkaz:
https://doaj.org/article/e8c098c00c394408a8d5c2c5d49ab489
Autor:
Manun Channumsin, Marc Ciosi, Dan Masiga, Harriet Auty, C. Michael Turner, Elizabeth Kilbride, Barbara K. Mable
Publikováno v:
Wellcome Open Research, Vol 6 (2021)
Background: Changes in climate and land use can alter risk of transmission of parasites between domestic hosts and wildlife, particularly when mediated by vectors that can travel between populations. Here we focused on tsetse flies (genus Glossina),
Externí odkaz:
https://doaj.org/article/96481033a18c48ae8aba121710e9aa9b
Publikováno v:
BMC Microbiology, Vol 18, Iss S1, Pp 69-82 (2018)
Abstract Background Susceptibility of tsetse flies (Glossina spp.) to trypanosomes of both humans and animals has been associated with the presence of the endosymbiont Sodalis glossinidius. However, intrinsic biological characteristics of the flies a
Externí odkaz:
https://doaj.org/article/d22d9e08234442a19a97f5f8c90a2da4
Publikováno v:
ZooKeys, Vol 769, Iss , Pp 117-144 (2018)
Biting flies of the family Tabanidae are important vectors of human and animal diseases across continents. However, records of Africa tabanids are fragmentary and mostly cursory. To improve identification, documentation and description of Tabanidae i
Externí odkaz:
https://doaj.org/article/12a1d7d578e748699e1e30fc751276c7
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:
A: Pathogenic mechanisms.
Publikováno v:
D: Wet biomarkers.
Autor:
Ainara, Ruiz de Sabando, Edurne, Urrutia Lafuente, Arkaitz, Galbete, Marc, Ciosi, Fermín, García Amigot, Virginia, García Solaesa, Darren G, Monckton, Camen, Durán-Herrera
Publikováno v:
Human molecular genetics.
We aimed to determine the genetic diversity and molecular characteristics of the Huntington disease (HD) gene (HTT) in Spain. We performed an extended haplotype and exon one deep sequencing analysis of the HTT gene in a nationwide cohort of populatio