Zobrazeno 1 - 10
of 268
pro vyhledávání: '"STEPHEN J. TUFT"'
Autor:
Christina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, Natalia Dominik, Nihar Bhattacharyya, Siyin Liu, Marcos Abreu Costa, Anita Szabo, Amanda N. Sadan, Albert S. Jun, Enrico Bugiardini, Henry Houlden, Andrea Cortese, Pavlina Skalicka, Lubica Dudakova, Kirithika Muthusamy, Michael E. Cheetham, Alison J. Hardcastle, Petra Liskova, Stephen J. Tuft, Alice E. Davidson
Publikováno v:
EBioMedicine, Vol 108, Iss , Pp 105328- (2024)
Summary: Background: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18
Externí odkaz:
https://doaj.org/article/886fb84cc1b04e459db16fc8c11e4f8d
Autor:
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Publikováno v:
PLoS Genetics, Vol 20, Iss 5, p e1011230 (2024)
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-codi
Externí odkaz:
https://doaj.org/article/2483dcb3baf447028431d996808cd5cd
Autor:
Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel,
Externí odkaz:
https://doaj.org/article/6eed77457b784436985e138a87c60544
Autor:
Pirro Hysi, Stephen J Tuft, Nikolas Pontikos, Bruce D Allan, Alison J Hardcastle, Olivia Li, Howard P Maile, Mary D Fortune, Patrick J Royston, Marcello T Leucci, Daniel M Gore
Publikováno v:
BMJ Open Ophthalmology, Vol 7, Iss Suppl 1 (2022)
Externí odkaz:
https://doaj.org/article/3d5df28d830f43419499622a546c34cf
Autor:
Daniel FP Larkin, Kashfia Chowdhury, Caroline J Doré, Catey Bunce, Jennifer M Burr, Emilia Caverly, Lisa French, Dimitra Kopsini, Anne Klepacz, Mathew Raynor, Matthew Edwards, Stephen J Tuft
Publikováno v:
Efficacy and Mechanism Evaluation, Vol 8, Iss 15 (2021)
Background: Keratoconus is a disease of the cornea affecting vision that is usually first diagnosed in the first three decades. The abnormality of corneal shape and thickness tends to progress until the patient reaches approximately 30 years of age.
Externí odkaz:
https://doaj.org/article/4faf3d91f14c4cbb879595ccf1e1e94d
Publikováno v:
Journal of Current Ophthalmology, Vol 31, Iss 2, Pp 225-228 (2019)
Purpose: To describe three individuals with severe keratitis and a substantial delay before floppy associated eyelid syndrome (FES) was identified, and to estimate the prevalence of severe corneal disease in individuals with FES. Methods: We defined
Externí odkaz:
https://doaj.org/article/e5a7c4fb758c4749a5f67532209e9c76
Autor:
Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova
Publikováno v:
BMC Ophthalmology, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. Methods We identified two white Czech, two white British and two South
Externí odkaz:
https://doaj.org/article/5dffa357c27e46e881091d2efe2a00aa
Autor:
Howard P. Maile, Ji-Peng Olivia Li, Mary D. Fortune, Patrick Royston, Marcello T. Leucci, Ismail Moghul, Anita Szabo, Konstantinos Balaskas, Bruce D. Allan, Alison J. Hardcastle, Pirro Hysi, Nikolas Pontikos, Stephen J. Tuft, Daniel M. Gore
Publikováno v:
American Journal of Ophthalmology. 240:321-329
To generate a prognostic model to predict keratoconus progression to corneal crosslinking (CXL).Retrospective cohort study.We recruited 5025 patients (9341 eyes) with early keratoconus between January 2011 and November 2020. Genetic data from 926 pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8e29a93266ef884d9205c09abfdf9a1
https://doi.org/10.1016/j.ajo.2022.04.004
https://doi.org/10.1016/j.ajo.2022.04.004
Autor:
Nikolas Pontikos, Sharon Chua, Paul J Foster, Stephen J Tuft, Alexander C Day, UK Biobank Eye and Vision Consortium
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0218144 (2019)
PurposeTo describe corneal astigmatism in the UK Biobank population and to look for associations with other biometric variables and socio-demographic factors.MethodsThis analysis included a subsample of 107,452 participants of the UK Biobank study wh
Externí odkaz:
https://doaj.org/article/ef9ce298ad234def8aab5d93e9efc23b
Autor:
Nihar Bhattacharyya, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Niuzheng Chai, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
The predominant cause of Fuchs endothelial corneal dystrophy (FECD) is a CTG repeat expansion (termed CTG18.1) situated within an intron of the transcription factor encoding gene,TCF4. Here we use a primary FECD case-derived corneal endothelial cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31883af7f591ee1fe92d951d198a06c5
https://doi.org/10.1101/2023.03.29.534731
https://doi.org/10.1101/2023.03.29.534731
