Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Jac Charlesworth"'
Autor:
Philippa Scanlon, Garry Ridler, Genevieve Say, Miranda Kellett, Jac Charlesworth, Amanda Neil, Joanne L. Dickinson, Kathryn Burdon, Matthew Jose, Mathew Wallis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background An ongoing challenge with rare diseases is limited data and, consequently, limited knowledge about the collective prevalence and impact of these conditions on individuals, families, and the health system, particularly in rural and
Externí odkaz:
https://doaj.org/article/c8dc08ffd54048448361a5b4ab454071
Autor:
Ashish Mehta, Peter Lu, Bruce V. Taylor, Jac Charlesworth, Anthony L. Cook, Kathryn P. Burdon, Alex W. Hewitt, Kaylene M. Young
Publikováno v:
Stem Cell Research, Vol 57, Iss , Pp 102568- (2021)
Multiple sclerosis (MS) is a chronic autoimmune and neurodegenerative disease that results in immune cell infiltration of the central nervous system (CNS) and demyelination in young adults. Substantial progress has been made in developing disease mod
Externí odkaz:
https://doaj.org/article/3442b7fb65b04a63b6278d779c6143d5
Publikováno v:
BMC Proceedings, Vol 12, Iss S9, Pp 151-156 (2018)
Abstract We conducted a genome-wide linkage scan to detect loci that influence the levels of fasting triglycerides in plasma. Fasting triglyceride levels were available at 4 time points (visits), 2 pre- and 2 post-fenofibrate intervention. Multipoint
Externí odkaz:
https://doaj.org/article/c7207fa2514c4fb48b6264bbed2077b1
Autor:
Dianne Nicol, Lisa Eckstein, Michael Morrison, Jacob S. Sherkow, Margaret Otlowski, Tess Whitton, Tania Bubela, Kathryn P. Burdon, Don Chalmers, Sarah Chan, Jac Charlesworth, Christine Critchley, Merlin Crossley, Sheryl de Lacey, Joanne L. Dickinson, Alex W. Hewitt, Joanne Kamens, Kazuto Kato, Erika Kleiderman, Satoshi Kodama, John Liddicoat, David A. Mackey, Ainsley J. Newson, Jane Nielsen, Jennifer K. Wagner, Rebekah E. McWhirter
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-4 (2017)
Editorial summary Genome editing using clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated proteins offers the potential to facilitate safe and effective treatment of genetic diseases refractory to other types of
Externí odkaz:
https://doaj.org/article/e39900d4e4ea4a7687362aae20d66d35
Identity-by-descent mapping to detect rare variants conferring susceptibility to multiple sclerosis.
Autor:
Rui Lin, Jac Charlesworth, Jim Stankovich, Victoria M Perreau, Matthew A Brown, ANZgene Consortium, Bruce V Taylor
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e56379 (2013)
Genome-wide association studies (GWAS) have identified around 60 common variants associated with multiple sclerosis (MS), but these loci only explain a fraction of the heritability of MS. Some missing heritability may be caused by rare variants that
Externí odkaz:
https://doaj.org/article/d25e2232bc334290992608243f48933a
Autor:
Melanie A Carless, Hemant Kulkarni, Mark Z Kos, Jac Charlesworth, Juan M Peralta, Harald H H Göring, Joanne E Curran, Laura Almasy, Thomas D Dyer, Anthony G Comuzzie, Michael C Mahaney, John Blangero
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73950 (2013)
Several studies have identified effects of genetic variation on DNA methylation patterns and associated heritability, with research primarily focused on Caucasian individuals. In this paper, we examine the evidence for genetic effects on DNA methylat
Externí odkaz:
https://doaj.org/article/58b965aa90ac448085f1100a57d42f75
Autor:
Xin, Lin, Yuanhao, Yang, Melissa, Gresle, Gabriel, Cuellar-Partida, Xikun, Han, Jim, Stankovich, Valery, Fuh-Ngwa, Jac, Charlesworth, Kathryn P, Burdon, Helmut, Butzkueven, Bruce V, Taylor, Yuan, Zhou
Publikováno v:
Brain. 146:2464-2475
Understanding how variations in the plasma and brain proteome contribute to multiple sclerosis susceptibility can provide important insights to guide drug repurposing and therapeutic development for the disease. However, the role of genetically predi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ee534c365605bd80e166a7e9788237
https://doi.org/10.1093/brain/awac420
https://doi.org/10.1093/brain/awac420
Autor:
Bruce Taylor, Valery Fuh-Ngwa, Jac Charlesworth, Yuan Zhou, Ingrid van der Mei, Phillip Melton, Simon Broadley, Anne-Louise Ponsonby, Steve Simpson-Yap, Jeannette Lechner-Scott
The contribution of multiple sclerosis relapses to worsening of disability, and vice-versa, remains unclear. Vitamin D supplementation (VitD) and disease modifying therapies (DMTs) are potential modulators of this association. Understanding how these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6734f9ce9af2706d6d88e1371389c114
https://doi.org/10.21203/rs.3.rs-1547958/v1
https://doi.org/10.21203/rs.3.rs-1547958/v1
Autor:
Xin Lin, Yuan Zhou, Suzi B. Claflin, Bruce V. Taylor, Jac Charlesworth, Steve Simpson Yap, Kathryn P. Burdon, Gabriel Cuellar-Partida
Publikováno v:
Multiple sclerosis (Houndmills, Basingstoke, England). 27(14)
Background: Genome-wide association studies (GWAS) have succeeded in identifying over 200 susceptibility loci for multiple sclerosis (MS). However, the potential functional variants and the mechanisms by which these loci affect MS risk remain largely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c370d33041b3da8210c9862cc8c2bec1
https://pubmed.ncbi.nlm.nih.gov/33870794
https://pubmed.ncbi.nlm.nih.gov/33870794
Autor:
Jozef Gecz, Kathryn P. Burdon, Mark A. Corbett, Johanna L. Jones, James E. Elder, David A. Mackey, Duran Zhao, Robert Gasperini, Elise J. Yeaman, Jac Charlesworth, Jamie E Craig
Publikováno v:
European Journal of Human Genetics
Inherited paediatric cataract is a rare Mendelian disease that results in visual impairment or blindness due to a clouding of the eye’s crystalline lens. Here we report an Australian family with isolated paediatric cataract, which we had previously
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f5c3faa93e93f82cb921af6e6cedac
https://pubmed.ncbi.nlm.nih.gov/33867527
https://pubmed.ncbi.nlm.nih.gov/33867527