Zobrazeno 1 - 10
of 62
pro vyhledávání: '"James Bellingham"'
Autor:
Davide Piccolo, Christina Zarouchlioti, James Bellingham, Rosellina Guarascio, Kalliopi Ziaka, Robert S. Molday, Michael E. Cheetham
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 8, p 4521 (2024)
ABCA4-related retinopathy is the most common inherited Mendelian eye disorder worldwide, caused by biallelic variants in the ATP-binding cassette transporter ABCA4. To date, over 2200 ABCA4 variants have been identified, including missense, nonsense,
Externí odkaz:
https://doaj.org/article/05457c90bb4445a0a7fcc8c78d5b9bd4
Autor:
Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
Motile and non-motile cilia have distinct functions and protein complexes associated with them. Here, the authors show the conserved protein CFAP20 is important for both motile and non-motile cilia and is distinct from other ciliopathy-associated dom
Externí odkaz:
https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb
Autor:
James Bellingham, Shyam S Chaurasia, Zara Melyan, Cuimei Liu, Morven A Cameron, Emma E Tarttelin, P. Michael Iuvone, Mark W Hankins, Gianluca Tosini, Robert J Lucas
Publikováno v:
PLoS Biology, Vol 4, Iss 10 (2006)
A new melanopsin gene, identified in fish, bird, and amphibian genomes, is the true ortholog of the melanopsin gene previously described in mammals.
Externí odkaz:
https://doaj.org/article/7726be5c89c9496b8659e74fe8075d27
Autor:
James Bellingham, Shyam S Chaurasia, Zara Melyan, Cuimei Liu, Morven A Cameron, Emma E Tarttelin, P Michael Iuvone, Mark W Hankins, Gianluca Tosini, Robert J Lucas
Publikováno v:
PLoS Biology, Vol 4, Iss 8, p e254 (2006)
In mammals, the melanopsin gene (Opn4) encodes a sensory photopigment that underpins newly discovered inner retinal photoreceptors. Since its first discovery in Xenopus laevis and subsequent description in humans and mice, melanopsin genes have been
Externí odkaz:
https://doaj.org/article/e5538d9b048f4325a5835ce5565b959e
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
Autor:
Robin R. Ali, Dalila Bevilacqua, Dimitra Athanasiou, Mònica Aguilà, Takao Iwawaki, Alexander J. Smith, James Bellingham, David A. Parfitt, Ryea Maswood, Michael E. Cheetham, Yanai Duran, Giannis Spyrou
Publikováno v:
Human Molecular Genetics
Rhodopsin misfolding caused by the P23H mutation is a major cause of autosomal dominant retinitis pigmentosa (adRP). To date, there are no effective treatments for adRP. The BiP co-chaperone and reductase ERdj5 (DNAJC10) is part of the endoplasmic re
Autor:
James A. Poulter, Elfride De Baere, Kaoru Fujinami, Andrew R. Webster, Atta Ur Rehman, Gavin Arno, Abdur Rehman, Rachel L. Taylor, Sarah A. Harris, Graeme C.M. Black, James Bellingham, Julie De Zaeytijd, Martin McKibbin, Chris F. Inglehearn, Molly S. C. Gravett, Kamron N. Khan, Muhammad Ansar, Takaaki Hayashi, Robert H. Henderson, Manir Ali, Nigel P. Davies, Dan Donnelly, Mineo Kondo, Omar A. Mahroo, Carmel Toomes, Bart P. Leroy, Carlo Rivolta
Publikováno v:
Poulter, J A, Gravett, M, Taylor, R L, Fujinami, K, Zaeytijd, J D, Bellingham, J, Rehman, A U, Hayashi, T, Kondo, M, Rehman, A, Ansar, M, Donnelly, D, Toomes, C, Ali, M, De Baere, E, Leroy, B P, Davies, N, Henderson, R, Webster, A R, Rivolta, C, Mahroo, O A, Arno, G, Black, G, McKibbin, M, Harris, S, Khan, K N & Inglehearn, C F 2020, ' New variants and in silico analyses in GRK1 associated Oguchi disease ', Human Mutation . https://doi.org/10.1002/humu.24140
Human mutation, vol. 42, no. 2, pp. 164-176
Human Mutation
HUMAN MUTATION
Human mutation, vol. 42, no. 2, pp. 164-176
Human Mutation
HUMAN MUTATION
Biallelic mutations in G‐Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify disease causing GRK1 variants and use in‐depth bioin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12a94e3ebbe2ae92f189e35387d79dc6
https://doi.org/10.1002/humu.24140
https://doi.org/10.1002/humu.24140
Autor:
Chris F. Inglehearn, Nigel P. Davies, Gavin Arno, Robert H. Henderson, Kamron N. Khan, Rachel L. Taylor, Omar A. Mahroo, James Bellingham, Manir Ali, James A. Poulter, Molly S. C. Gravett, Elfride De Baere, Dan Donnelly, Atta Ur Rehman, Abdur Rehman, Carlo Rivolta, Kaoru Fujinami, Graeme C.M. Black, Julie De Zaeytijd, Mineo Kondo, Sarah A. Harris, Martin McKibbin, Andrew R. Webster, Takaaki Hayashi, Muhammad Ansar, Bart P. Leroy, Carmel Toomes
PurposeBiallelic mutations in G-Protein coupled receptor kinase 1 (GRK1) cause Oguchi disease, a rare subtype of congenital stationary night blindness (CSNB). The purpose of this study was to identify pathogenic GRK1 variants and use in-depth bioinfo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd0e76291f1831ed8228999ec74b1faf
https://doi.org/10.1101/2020.02.20.936880
https://doi.org/10.1101/2020.02.20.936880
Autor:
Wenwen Li, Philip J. Reeves, Caroline McCulley, Michael E. Cheetham, James Bellingham, Dimitra Athanasiou, Mònica Aguilà
Publikováno v:
Progress in Retinal and Eye Research. 62:1-23
Inherited mutations in the rod visual pigment, rhodopsin, cause the degenerative blinding condition, retinitis pigmentosa (RP). Over 150 different mutations in rhodopsin have been identified and, collectively, they are the most common cause of autoso