المؤلفون: Arno, Gavin, Agrawal, Smriti A, Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A, Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J, Fiorentino, Alessia, Hayes, Matthew J, Munro, Peter M, Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E, UKIRDC, Black, Graeme, Hall, Georgina, Ingram, Stuart, Gillespie, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Inglehearn, Chris, Toomes, Carmel, Ali, Manir, McKibbin, Martin, Poulter, James, Khan, Kamron, Lord, Emma, Nemeth, Andrea, Downes, Susan, Yu, Jing, Lise, Stefano, Ponitkos, Nikos, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J, Cheetham, Michael E, Webster, Andrew R, van Heyningen, Veronica, Asomugha, Chinwe, Raymond, F Lucy, Moore, Anthony T, Li, Yumei, Cukras, Catherine, Chen, Rui

المصدر: American Journal of Human Genetics. 99(6)

مصطلحات موضوعية: Genetics, Biotechnology, Neurodegenerative, Rare Diseases, Clinical Research, Eye Disease and Disorders of Vision, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Alleles, Animals, Child, Child, Preschool, Eye Proteins, Female, Genes, Recessive, Humans, Induced Pluripotent Stem Cells, Male, Membrane Proteins, Membrane Transport Proteins, Mice, Mutation, Mutation, Missense, Phenotype, Photoreceptor Cells, Vertebrate, Retinitis Pigmentosa, Young Adult, UKIRDC, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

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URL الوصول: https://escholarship.org/uc/item/0hc1b772

المؤلفون: Parfitt, David A, Lane, Amelia, Ramsden, Conor M, Carr, Amanda-Jayne F, Munro, Peter M, Jovanovic, Katarina, Schwarz, Nele, Kanuga, Naheed, Muthiah, Manickam N, Hull, Sarah, Gallo, Jean-Marc, da Cruz, Lyndon, Moore, Anthony T, Hardcastle, Alison J, Coffey, Peter J, Cheetham, Michael E

المصدر: Cell Stem Cell. 18(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell, Clinical Research, Neurosciences, Pediatric, Stem Cell Research, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Genetics, 2.1 Biological and endogenous factors, Aetiology, Eye, Antigens, Neoplasm, Blindness, Cell Cycle Proteins, Cell Differentiation, Cilia, Cytoskeletal Proteins, Exons, Eye Proteins, Fibroblasts, Humans, Induced Pluripotent Stem Cells, Inheritance Patterns, Leber Congenital Amaurosis, Male, Morpholinos, Neoplasm Proteins, Opsins, Optic Disk, Organogenesis, Photoreceptor Cells, Vertebrate, RNA Splicing, RNA, Messenger, Retinal Pigment Epithelium, rab GTP-Binding Proteins, Biological Sciences, Medical and Health Sciences, Developmental Biology, Biological sciences, Biomedical and clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0db7p78x

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المؤلفون: Georgiadis, Anastasios, Tschernutter, Marion, Bainbridge, James W. B., Balaggan, Kamaljit S., Mowat, Freya, West, Emma L., Munro, Peter M. G., Thrasher, Adrian J., Matter, Karl, Balda, Maria S., Ali, Robin R.

المصدر: PLoS ONE; 12/7/2023, Vol. 18 Issue 12, p1-2, 2p

مصطلحات موضوعية: TIGHT junctions, HOMEOSTASIS, EPITHELIUM, MICE, SAMPLING errors, RHODOPSIN

المؤلفون: Athanasiou, Dimitra, Aguila, Monica, Opefi, Chikwado A, South, Kieron, Bellingham, James, Bevilacqua, Dalila, Munro, Peter M, Kanuga, Naheed, Mackenzie, Francesca E, Dubis, Adam M, Georgiadis, Anastasios, Graca, Anna B, Pearson, Rachael A, Ali, Robin R, Sakami, Sanae, Palczewski, Krzysztof, Sherman, Michael Y, Reeves, Philip J, Cheetham, Michael E

المصدر: Athanasiou, D, Aguila, M, Opefi, C A, South, K, Bellingham, J, Bevilacqua, D, Munro, P M, Kanuga, N, Mackenzie, F E, Dubis, A M, Georgiadis, A, Graca, A B, Pearson, R A, Ali, R R, Sakami, S, Palczewski, K, Sherman, M Y, Reeves, P J & Cheetham, M E 2017, ' Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration ', Human Molecular Genetics, vol. 26, no. 2, pp. 305-319 . https://doi.org/10.1093/hmg/ddw387

مصطلحات موضوعية: Photoreceptor Cells/drug effects, genetic structures, Proteostasis Deficiencies/genetics, Protein Folding/drug effects, psychiatry, Rats, Disease Models, Animal, Mice, Retinal Rod Photoreceptor Cells/drug effects, Metformin/administration & dosage, Retinitis Pigmentosa/drug therapy, Animals, Humans, Rhodopsin/chemistry, Transcriptional Activation/drug effects, sense organs, Mutant Proteins/genetics, Rod Cell Outer Segment/drug effects, Retinal Degeneration/drug therapy, biological, AMP-Activated Protein Kinases/biosynthesis

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1be46c424e0267656e40252de0f66f7b
https://eprints.kingston.ac.uk/id/eprint/39938/1/McKenzie-F-39938-VoR.pdf

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