Zobrazeno 1 - 10
of 423
pro vyhledávání: '"Anthony T, Moore"'
Autor:
Valentina Cipriani, Laura Lorés-Motta, Fan He, Dina Fathalla, Viranga Tilakaratna, Selina McHarg, Nadhim Bayatti, İlhan E. Acar, Carel B. Hoyng, Sascha Fauser, Anthony T. Moore, John R. W. Yates, Eiko K. de Jong, B. Paul Morgan, Anneke I. den Hollander, Paul N. Bishop, Simon J. Clark
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
A locus on chromosome 1 encompassing the CFHR genes is highly associated with AMD risk. Here, Cipriani and colleagues investigate the role of CFHR4, encoding FHR-4, and demonstrate a relationship between AMD risk, circulating FHR-4 levels and genetic
Externí odkaz:
https://doaj.org/article/0b0f1261bc8d49669412ef574f2fe536
Autor:
Tessa E. Dewell, Ketrin Gjoni, Angela Z. Liu, Ashley R.G. Libby, Anthony T. Moore, Po-Lin So, Bruce R. Conklin
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102368- (2021)
Age-related macular degeneration and genetic forms of blindness such as Best Disease and Retinitis Pigmentosa can be caused by degeneration of the Retinal Pigment Epithelium (RPE). RPE generated from patient-derived induced pluripotent stem cells (iP
Externí odkaz:
https://doaj.org/article/0b602885402b4586981b94ec9cf47f67
Autor:
Mark Edward Pennesi, Paul Yang, David G. Birch, Christina Y. Weng, Anthony T. Moore, Alessandro Iannaccone, Jason I. Comander, Thiran Jayasundera, Jeffrey Chulay, Deanine Halliman, Matthew Feinsod, Mark Pennesi, David Birch, Lea Bennett, Tahira Scholle, Roomasa Channa, Laura Baker, Jay Stewart, Anthony Moore, Priyatham Mettu, Lejla Vajzovic, K. Thiran Jayasundera, Jason Comander, Neil Bressler, Byron Lam
Publikováno v:
Ophthalmology Retina. 6:1130-1144
Autor:
Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan, Alejandra G. de Alba Campomanes
Publikováno v:
Ophthalmic Genetics. :1-5
To describe a case of primary coenzyme Q10 deficiency in a child manifesting as early-onset renal failure, retinal dystrophy, and optic atrophy leading to progressive vision loss. Clinical presentation and workup including visual fields, electroretin
Autor:
Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Autosomal dominant North Carolina macular dystrophy (NCMD) is believed to represent a failure of macular development. The disorder has been linked to two loci, MCDR1 (chromosome 6q16) and MCDR3 (chromosome 5p15-p13). Recently, non-coding var
Externí odkaz:
https://doaj.org/article/2d372407022b447ebe6a08634c10139b
Autor:
Conor M. Ramsden, Britta Nommiste, Amelia R. Lane, Amanda-Jayne F. Carr, Michael B. Powner, Matthew J. K. Smart, Li Li Chen, Manickam N. Muthiah, Andrew R. Webster, Anthony T. Moore, Michael E. Cheetham, Lyndon da Cruz, Peter J. Coffey
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Abstract Inherited retinal dystrophies are an important cause of blindness, for which currently there are no effective treatments. In order to study this heterogeneous group of diseases, adequate disease models are required in order to better underst
Externí odkaz:
https://doaj.org/article/2c6bb3edda1a42e7b46f27b3e51b9e86
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 4, Iss C, Pp 83-86 (2016)
Purpose: To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. Observations: A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing i
Externí odkaz:
https://doaj.org/article/179e74c1753e48d4a2d8811e80b8069d
Autor:
Emilia Boiadjieva Knöpfel, Clara Vilches, Simone M. R. Camargo, Ekaitz Errasti-Murugarren, Andrina Stäubli, Clara Mayayo, Francis L. Munier, Nataliya Miroshnikova, Nadège Poncet, Alexandra Junza, Shomi S. Bhattacharya, Esther Prat, Vanita Berry, Wolfgang Berger, Elise Heon, Anthony T. Moore, Óscar Yanes, Virginia Nunes, Manuel Palacín, Francois Verrey, Barbara Kloeckener-Gruissem
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Cataract, the loss of ocular lens transparency, accounts for ∼50% of worldwide blindness and has been associated with water and solute transport dysfunction across lens cellular barriers. We show that neutral amino acid antiporter LAT2 (Slc7a8) and
Externí odkaz:
https://doaj.org/article/0d94c545a0ee46fbbf4929482b25efc7
Autor:
Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C. W. Klaver, Anthony T. Moore, Ken K. Nischal, Kyoko Ohno-Matsui, Evelyn A. Paysse, Michael X. Repka, Irina Y. Smirnova, Martin Snead, Virginie J. M. Verhoeven, Pavan K. Verkicharla
Publikováno v:
Investigative ophthalmology & visual science, 64(6):3. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 64
Investigative Ophthalmology and Visual Science, 64, 6
Investigative Ophthalmology and Visual Science, 64
Investigative Ophthalmology and Visual Science, 64, 6
Contains fulltext : 292367.pdf (Publisher’s version ) (Open Access) PURPOSE: The purpose of this study was to evaluate the epidemiology, etiology, clinical assessment, investigation, management, and visual consequences of high myopia (≤-6 diopter
Autor:
Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno
Publikováno v:
Human molecular genetics, vol 32, iss 4
The purpose of this paper is to identify likely pathogenic non-coding variants in inherited retinal dystrophy (IRD) genes, using genome sequencing (GS). Patients with IRD were recruited to the study and underwent comprehensive ophthalmological evalua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4eecf9b5f20e38556985a642ed4fc37b
https://escholarship.org/uc/item/4z14k3r2
https://escholarship.org/uc/item/4z14k3r2