Retinitis Pigmentosa

Displaying 1 - 34 of 34CSV
da Costa, B. L., Caruso, S. M., Tsai, Y.-T., Castillejos, D. S., Sylla, M., Tsang, S. H., & Quinn, P. M. J. (2025). Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation. Retinal Degenerative Diseases XX, 101–106. https://doi.org/10.1007/978-3-031-76550-6_17
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da Costa, B. L., Pincay, J., Brodie, S. E., Tsang, S. H., & Quinn, P. M. J. (2025). Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation. Retinal Degenerative Diseases XX, 113–118. https://doi.org/10.1007/978-3-031-76550-6_19
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Stehle, I. F., Imventarza, J. A., Woerz, F., Hoffmann, F., Boldt, K., Beyer, T., Quinn, P. M., & Ueffing, M. (2024). Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina. Life Science Alliance, 7(6), e202302440. https://doi.org/10.26508/lsa.202302440
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Nolan, N. D., Cui, X., Robbings, B. M., Demirkol, A., Pandey, K., Wu, W.-H., Hu, H. F., Jenny, L. A., Lin, C.-S., Hass, D. T., Du, J., Hurley, J. B., & Tsang, S. H. (2024). CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa. Cell Reports Medicine, 5(4), 101459. https://doi.org/10.1016/j.xcrm.2024.101459
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Malik, M. A., Saqib, M. A. N., Mientjes, E., Acharya, A., Alam, M. R., Wallaard, I., Schrauwen, I., Bamshad, M. J., Santos-Cortez, R. L. P., Elgersma, Y., Leal, S. M., & Ansar, M. (2023). A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European Journal of Human Genetics, 31(12), 1447–1454. https://doi.org/10.1038/s41431-023-01475-w
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Caruso, S. M., Tsai, Y.-T., da Costa, B. L., Kolesnikova, M., Jenny, L. A., Tsang, S. H., & Quinn, P. M. J. (2023). Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation. Retinal Degenerative Diseases XIX, 97–102. https://doi.org/10.1007/978-3-031-27681-1_15
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da Costa, B. L., Li, Y., Levi, S. R., Tsang, S. H., & Quinn, P. M. J. (2023). Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation. Retinal Degenerative Diseases XIX, 571–576. https://doi.org/10.1007/978-3-031-27681-1_83
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Nolan, N. D., Jenny, L. A., Tsang, S. H., & Cui, X. (2023). Rod Photoreceptor-Specific Ablation of Metformin Target, AMPK, in a Preclinical Model of Autosomal Recessive Retinitis Pigmentosa. Retinal Degenerative Diseases XIX, 403–408. https://doi.org/10.1007/978-3-031-27681-1_59
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Soucy, M., Kolesnikova, M., Kim, A. H., & Tsang, S. H. (2023). Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. Documenta Ophthalmologica, 146(3), 267–272. https://doi.org/10.1007/s10633-022-09916-5
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Tran, M., Kolesnikova, M., Kim, A. H., Kowal, T., Ning, K., Mahajan, V. B., Tsang, S. H., & Sun, Y. (2022). Clinical characteristics of high myopia in female carriers of pathogenic RPGR mutations: a case series and review of the literature. Ophthalmic Genetics, 44(3), 295–303. https://doi.org/10.1080/13816810.2022.2113544
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Kim, A. H., Kolesnikova, M., Ngo, W. K., & Tsang, S. H. (2023). Effects of medications on hypoxia‐inducible factor in the retina: A review. Clinical & Experimental Ophthalmology, 51(3), 205–216. Portico. https://doi.org/10.1111/ceo.14161
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Ngo, W. K., Jenny, L. A., Kim, A. H., Kolesnikova, M., Greenstein, V. C., & Tsang, S. H. (2023). Correlations of Full-Field Stimulus Threshold With Functional and Anatomical Outcome Measurements in Advanced Retinitis Pigmentosa. American Journal of Ophthalmology, 245, 155–163. https://doi.org/10.1016/j.ajo.2022.07.010
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Chang, A. Y. (2022). Challenges of Treatment Methodologies and the Future of Gene Therapy and Stem Cell Therapy to Treat Retinitis Pigmentosa. Retinitis Pigmentosa, 363–374. https://doi.org/10.1007/978-1-0716-2651-1_33
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Chen, N., Lee, H., Kim, A. H., Liu, P.-K., Kang, E. Y.-C., Tseng, Y.-J., Seo, G. H., Khang, R., Liu, L., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2022). Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02659-6
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O’Grady, L., Schrier Vergano, S. A., Hoffman, T. L., Sarco, D., Cherny, S., Bryant, E., Schultz‐Rogers, L., Chung, W. K., Sacharow, S., Immken, L. L., Holder, S., Blackwell, R. R., Buchanan, C., Yusupov, R., Lecoquierre, F., Guerrot, A., Rodan, L., de Vries, B. B. A., Kamsteeg, E. J., … Gold, N. B. (2022). Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. American Journal of Medical Genetics Part A, 188(9), 2750–2759. Portico. https://doi.org/10.1002/ajmg.a.62772
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Cui, X., Kim, H. J., Cheng, C.-H., Jenny, L. A., Lima de Carvalho, J. R., Chang, Y.-J., Kong, Y., Hsu, C.-W., Huang, I.-W., Ragi, S. D., Lin, C.-S., Li, X., Sparrow, J. R., & Tsang, S. H. (2022). Long-term vitamin A supplementation in a preclinical mouse model forRhoD190N-associated retinitis pigmentosa. Human Molecular Genetics, 31(14), 2438–2451. https://doi.org/10.1093/hmg/ddac032
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Wu, W.-H., Tsai, Y.-T., Huang, I.-W., Cheng, C.-H., Hsu, C.-W., Cui, X., Ryu, J., Quinn, P. M. J., Caruso, S. M., Lin, C.-S., & Tsang, S. H. (2022). CRISPR genome surgery in a novel humanized model for autosomal dominant retinitis pigmentosa. Molecular Therapy, 30(4), 1407–1420. https://doi.org/10.1016/j.ymthe.2022.02.010
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Kajtna, J., Tsang, S. H., & Koch, S. F. (2022). Late-stage rescue of visually guided behavior in the context of a significantly remodeled retinitis pigmentosa mouse model. Cellular and Molecular Life Sciences, 79(3). https://doi.org/10.1007/s00018-022-04161-0
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Nolan, N. D., Caruso, S. M., Cui, X., & Tsang, S. H. (2022). Renormalization of metabolic coupling treats age-related degenerative disorders: an oxidative RPE niche fuels the more glycolytic photoreceptors. Eye, 36(2), 278–283. https://doi.org/10.1038/s41433-021-01726-4
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