Zobrazeno 1 - 10
of 96
pro vyhledávání: '"Panagiotis I Sergouniotis"'
Autor:
Thomas H Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme CM Black, Panagiotis I Sergouniotis
Publikováno v:
eLife, Vol 12 (2023)
Background: Age-related macular degeneration (AMD) is a leading cause of blindness in the industrialised world and is projected to affect >280 million people worldwide by 2040. Aiming to identify causal factors and potential therapeutic targets for t
Externí odkaz:
https://doaj.org/article/9c353c351bee49a9807582726c52c145
Autor:
Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)
Albinism is a rare disorder often caused by high-effect rare variants in the TYR gene. Here, the authors study a large albinism cohort and find that a common variant in the TYR promoter contributes to albinism by modifying the penetrance of other com
Externí odkaz:
https://doaj.org/article/01831573c4ab4a8191b1243d40df0a50
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102880- (2022)
TYR encodes tyrosinase, the enzyme catalysing the first steps of melanin biosynthesis in melanocytes and retinal pigment epithelia (RPE). The TYR c.575C>A (p.Ser192Tyr) [rs1042602] and c.1205G>A (p.Arg402Gln) [rs1126809] variants are prevalent geneti
Externí odkaz:
https://doaj.org/article/d9e5a9e37e6a4cebbb6e069ecb73cb40
Autor:
Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Background The optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose
Externí odkaz:
https://doaj.org/article/f23685f139d44385aa33afa5a33ae3a2
Autor:
Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
BackgroundGyrate atrophy of the choroid and retina is a rare autosomal recessive metabolic disorder caused by biallelic variants in theOATgene, encoding the enzyme ornithineƍ-aminotransferase. Impaired enzymatic activity leads to systemic hyperornit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00d6fca4ebc245854dd771cda79b1436
https://doi.org/10.1101/2023.02.15.23285700
https://doi.org/10.1101/2023.02.15.23285700
Publikováno v:
Cambridge Prisms: Precision Medicine. 1
Genetics has been an important tool for discovering new aspects of biology across life. In humans, there is growing momentum behind the application of this knowledge to drive innovation in clinical care, most notably through developments in precision
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::237dde3781b29a4d1864cfa200e7a130
https://doi.org/10.1017/pcm.2022.11
https://doi.org/10.1017/pcm.2022.11
Autor:
Thomas H Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme CM Black, Panagiotis I Sergouniotis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d20bdd611a5a88a5dbedebff509219c
https://doi.org/10.7554/elife.82546.sa2
https://doi.org/10.7554/elife.82546.sa2
Autor:
Thomas H Julian, Zain Girach, Eleanor Sanderson, Hui Guo, Jonathan Yu, Johnathan Cooper-Knock, Graeme C. Black, Panagiotis I Sergouniotis
Primary open angle glaucoma (POAG) is a chronic, adult-onset optic neuropathy associated with characteristic optic disc and/or visual field changes. With a view to identifying modifiable risk factors for this debilitating condition, we performed a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::922299d7ddf61c9cdaf51a9c366aa383
https://doi.org/10.1101/2022.10.30.22281718
https://doi.org/10.1101/2022.10.30.22281718
Autor:
Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-1 (2019)
Professor Michael Larsen, who is a member of the ERN-EYE Ontology Study Group and co-chair of Workgroup on Retinal Rare Eye Diseases (WG1), was inadvertently omitted from the author list in the Acknowledgements section of the original article [1].
Externí odkaz:
https://doaj.org/article/074e5196cf984288aeac1e6c414a7937
Autor:
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C. Black, Susmito Biswas, Jane L. Ashworth, Panagiotis I. Sergouniotis
Publikováno v:
Genes. 14:791
Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2224fd5381669bc4c418897b3e54b66d
https://doi.org/10.3390/genes14040791
https://doi.org/10.3390/genes14040791