Zobrazeno 1 - 10
of 291
pro vyhledávání: '"John, Landers"'
Autor:
Georgina L Hollitt, Ayub Qassim, Daniel Thomson, Joshua M Schmidt, Thi Thi Nguyen, John Landers, Stuart MacGregor, Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guide
Externí odkaz:
https://doaj.org/article/f03b3831676b4d1982b0bce8f6de8137
Autor:
Sean Mullany, MD, Santiago Diaz-Torres, MPhil, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Henry N. Marshall, MD, Lachlan S.W. Knight, MOrth, Ella C. Berry, MChD, Antonia Kolovos, MD, David Dimasi, PhD, Stewart Lake, MBChB, PhD, Richard A. Mills, MBBS, PhD, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Toby Commerford, MBBS, Sonja Klebe, MD, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil
Publikováno v:
Ophthalmology Science, Vol 3, Iss 3, Pp 100287- (2023)
Purpose: To elucidate a potential association between the apolipoprotein E (APOE) E4 allele and glaucoma prevalence in large cohorts. Design: A cross-sectional analysis of baseline and prospectively collected cohort data. Participants: UK Biobank (UK
Externí odkaz:
https://doaj.org/article/05acaa6031d847e8b2014afc4e21d1d2
Autor:
Sean Mullany, MD, Henry Marshall, MD, Santiago Diaz-Torres, Ella C. Berry, MChD, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Minh-Son To, MD, PhD, David Dimasi, PhD, Abraham Kuot, PhD, Lachlan S.W. Knight, Georgina Hollitt, MBBS, Antonia Kolovos, MD, Angela Schulz, PhD, Stewart Lake, MBChB, Richard A. Mills, MBBS, PhD, Ashish Agar, MBBS, PhD, Anna Galanopoulos, MBBS, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Stuart L. Graham, MBBS, PhD, Alex W. Hewitt, MBBS, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Sonja Klebe, MBBS, PhD, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Robert J. Casson, MBBS, DPhil, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil
Publikováno v:
Ophthalmology Science, Vol 2, Iss 2, Pp 100159- (2022)
Purpose: To investigate the association between the apolipoprotein E (APOE) E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect and early manifest glaucoma. Design: Retrospective analysis of prospective
Externí odkaz:
https://doaj.org/article/faa3c6b4d45c4abdab7b2a769b6e35ab
Autor:
Henry Marshall, MBBS, Sean Mullany, MD, Xikun Han, PhD, Ella C. Berry, MChD, Mark M. Hassall, DPhil, Ayub Qassim, PhD, Thi Nguyen, BMSc(Optom), Georgina L. Hollitt, MBBS, Lachlan S.W. Knight, MOrth, Bronwyn Ridge, BA, Joshua Schmidt, PhD, Caroline Crowley, BDS, Angela Schulz, PhD, Richard A. Mills, PhD, Ashish Agar, PhD, Anna Galanopoulos, MBBS, John Landers, PhD, Paul R. Healey, PhD, Stuart L. Graham, PhD, Alex W. Hewitt, PhD, Robert J. Casson, DPhil, Stuart MacGregor, PhD, Owen M. Siggs, DPhil, Jamie E. Craig, DPhil
Publikováno v:
Ophthalmology Science, Vol 2, Iss 1, Pp 100108- (2022)
Purpose: To evaluate the association between genetic risk for cardiovascular disease and retinal thinning in early glaucoma. Design: Prospective, observational genetic association study Participants: Multicohort study combining a cohort of patients w
Externí odkaz:
https://doaj.org/article/d54cbf6a31aa47349098337e5e924075
Autor:
Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, Tobias Moll, John P. Franklin, Samantha Allen, Helia Ghahremani Nezhad, Alfredo Iacoangeli, Nancy Y. Yacovzada, Chen Eitan, Eran Hornstein, Eran Ehilak, Petra Celadova, Daniel Bose, Sali Farhan, Simon Fishilevich, Doron Lancet, Karen E. Morrison, Christopher E. Shaw, Ammar Al-Chalabi, Jan H. Veldink, Janine Kirby, Michael P. Snyder, Pamela J. Shaw, Ian Blair, Naomi Wray, Matthew Kiernan, Miguel Mitne Neto, Adriano Chio, Ruben Cauchi, Wim Robberecht, Philip van Damme, Phillippe Corcia, Phillipe Couratier, Orla Hardiman, Russel McLaughlin, Marc Gotkine, Vivan Drory, Nicola Ticozzi, Vincenzo Silani, Jan Veldink, Leonard van den Berg, Mamede de Carvalho, Jesus Mora Pardina, Monica Povedano, Peter Andersen, Markus Wber, Nazli Başak, Christopher Shaw, Pamela Shaw, Karen Morrison, John Landers, Jonathan Glass
Publikováno v:
Cell Reports, Vol 33, Iss 9, Pp 108456- (2020)
Summary: Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organize membrane lipid rafts (MLRs) important for cell signaling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vi
Externí odkaz:
https://doaj.org/article/7fac5ebf332545088de18b27ea1f88df
Autor:
Henry N. Marshall, Georgina L. Hollitt, Kristopher Wilckens, Sean Mullany, Shilpa Kuruvilla, Emmanuelle Souzeau, John Landers, Xikun Han, Stuart MacGregor, Jamie E. Craig, Owen M. Siggs
Publikováno v:
Ophthalmology Glaucoma. 6:54-57
To evaluate the association between a polygenic risk score (PRS) for primary open-angle glaucoma (POAG) and the age at the first trabeculectomy and the need for bilateral trabeculectomy.Retrospective observational cohort study.Nine hundred and three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed440211e9fc925b22387fe5a932729
https://doi.org/10.1016/j.ogla.2022.06.009
https://doi.org/10.1016/j.ogla.2022.06.009
Autor:
Henry N. Marshall, Sean Mullany, Xikun Han, Ayub Qassim, Weixiong He, Mark M. Hassall, Joshua Schmidt, Daniel Thomson, Thi Thi Nguyen, Ella C. Berry, Lachlan SW. Knight, Georgina L. Hollitt, Bronwyn Ridge, Angela Schulz, Richard A. Mills, Paul R. Healey, Ashish Agar, Anna Galanopoulos, John Landers, Stuart L. Graham, Alex W. Hewitt, Robert J. Casson, Stuart MacGregor, Owen M. Siggs, Jamie E. Craig
Publikováno v:
Ophthalmology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cda4291ac383adb3f6e9faa1dde4e2e9
https://doi.org/10.1016/j.ophtha.2023.03.028
https://doi.org/10.1016/j.ophtha.2023.03.028
Autor:
Allison A. Dilliott, Ahmad Al Nasser, Marwa Elnageeb, Jennifer Fifita, Lyndal Henden, Ingrid M. Keseler, Steven Lenz, Heather Marriott, Emily McCann, Maysen Mesaros, Sarah Opie-Martin, Emma Owens, Brooke Palus, Justyne Ross, Zhanjun Wang, Hannah White, Ammar Al-Chalabi, Peter M. Andersen, Michael Benatar, Ian Blair, Johnathan Cooper-Knock, Luke Drury, Elizabeth Harrington, Jeannine Heckmann, John Landers, Cristiane Moreno, Melissa Nel, Evadnie Rampersaud, Jennifer Roggenbuck, Guy Rouleau, Bryan Traynor, Marka van Blitterswijk, Wouter van Rheenen, Jan Veldink, Jochen Weishaupt, Matthew B. Harms, Sali M.K. Farhan
ObjectiveIn 2021, the Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was established to evaluate the strength of evidence for genes previously reported to be associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd66e22c16b4a459277c6c69317c1667
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-206369
Mutations in the superoxide dismutase 1 (SOD1) gene are the second most common known cause of ALS.SOD1variants express high phenotypic variability and over 200 have been reported in people with ALS. Investigating how differentSOD1variants affect the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4bff0e23e090e2eee0339728f506d92d
https://doi.org/10.1101/2022.12.05.519128
https://doi.org/10.1101/2022.12.05.519128
Autor:
Mona S Awadalla, Jude Fitzgerald, Nicholas H Andrew, Tiger Zhou, Henry Marshall, Ayub Qassim, Mark Hassall, Robert J Casson, Stuart L Graham, Paul R Healey, Ashish Agar, Anna Galanopoulos, Simon Phipps, Angela Chappell, John Landers, Jamie E Craig
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0206684 (2018)
PurposeThe ganglion cell analysis (GCA) of the CIRRUSTM HD-OCT (Carl Zeiss, Meditec; Dublin, CA) provides measurement of the macular ganglion cell-inner plexiform layer (GCIPL) thickness. This study determined the frequency of scan artefacts and erro
Externí odkaz:
https://doaj.org/article/fb8a42fb672b48db88288726f933c021