Zobrazeno 1 - 10
of 200
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:
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
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:
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
Autor:
Siyin Liu, Amanda N. Sadan, Kirithika Muthusamy, Christina Zarouchlioti, Jana Jedlickova, Nikolas Pontikos, Caroline Thaung, Alison J. Hardcastle, Magdalena Netukova, Pavlina Skalicka, Lubica Dudakova, Catey Bunce, Stephen J. Tuft, Alice E. Davidson, Petra Liskova
Publikováno v:
Acta Ophthalmologica.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7496cdb991cd35366ddf83587a8fc78
https://doi.org/10.1111/aos.15654
https://doi.org/10.1111/aos.15654
Autor:
Daniel F.P. Larkin, Kashfia Chowdhury, Jennifer M. Burr, Mathew Raynor, Matthew Edwards, Stephen J. Tuft, Catey Bunce, Emilia Caverly, Caroline Doré, Susmito Biswas, Jennifer Burr, Lisa French, Stephen Kaye, Anne Klepacz, Dimitra Kopsini, Frank Larkin, Stephen Tuft, Sue Webber, Colin Willoughbys
Publikováno v:
Ophthalmology. 128:1516-1526
Purpose To examine the efficacy and safety of corneal cross-linking (CXL) for stabilization of progressive keratoconus. Design Observer-masked, randomized, controlled, parallel-group superiority trial. Participants Sixty participants 10 to 16 years o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0dc481a65a71d67bd3bfcd7ddd1115ee
https://doi.org/10.1016/j.ophtha.2021.04.019
https://doi.org/10.1016/j.ophtha.2021.04.019
Autor:
Caroline J Doré, Stephen J Tuft, Catey Bunce, Kashfia Chowdhury, Daniel Fp Larkin, Mathew Raynor, Emilia Caverly, Anne Klepacz, Dimitra Kopsini, Jennifer Burr, Matthew Edwards, Lisa French
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. E
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c38d744fccc5d598453d6a3b1192df5b
https://doi.org/10.3310/eme08150
https://doi.org/10.3310/eme08150
Publikováno v:
American journal of ophthalmology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cfde1ff8573787015017da624d98ca6
https://pubmed.ncbi.nlm.nih.gov/36379322
https://pubmed.ncbi.nlm.nih.gov/36379322