Below are the most recent publications written about "Retinitis Pigmentosa" by people in Profiles.
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Griffith J, Sioufi K, Wilbanks L, Magrath GN, Say EAT, Lyons MJ, Wilkes M, Pai GS, Peterseim MMW. Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review. Genes (Basel). 2022 08 20; 13(8).
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Kwan JT, Ramsey DJ. Multimodal image alignment aids in the evaluation and monitoring of sector retinitis pigmentosa. Ophthalmic Genet. 2023 02; 44(1):93-102.
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Wang Y, Punzo C, Ash JD, Lobanova ES. Tsc2 knockout counteracts ubiquitin-proteasome system insufficiency and delays photoreceptor loss in retinitis pigmentosa. Proc Natl Acad Sci U S A. 2022 03 15; 119(11):e2118479119.
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Sterrett MC, Enyenihi L, Leung SW, Hess L, Strassler SE, Farchi D, Lee RS, Withers ES, Kremsky I, Baker RE, Basrai MA, van Hoof A, Fasken MB, Corbett AH. A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex. RNA. 2021 09; 27(9):1046-1067.
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Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, Cideciyan AV, Khanna H. RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP). Hum Mol Genet. 2021 01 21; 29(22):3706-3716.
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Picariello T, Brown JM, Hou Y, Swank G, Cochran DA, King OD, Lechtreck K, Pazour GJ, Witman GB. A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia. J Cell Sci. 2019 02 11; 132(3).
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Petit L, Ma S, Cipi J, Cheng SY, Zieger M, Hay N, Punzo C. Aerobic Glycolysis Is Essential for Normal Rod Function and Controls Secondary Cone Death in Retinitis Pigmentosa. Cell Rep. 2018 05 29; 23(9):2629-2642.
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Khanna H. More Than Meets the Eye: Current Understanding of RPGR Function. Adv Exp Med Biol. 2018; 1074:521-538.
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Venkatesh A, Cheng SY, Punzo C. Loss of the cone-enriched caspase-7 does not affect secondary cone death in retinitis pigmentosa. Mol Vis. 2017; 23:944-951.
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Megaw R, Abu-Arafeh H, Jungnickel M, Mellough C, Gurniak C, Witke W, Zhang W, Khanna H, Mill P, Dhillon B, Wright AF, Lako M, Ffrench-Constant C. Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models. Nat Commun. 2017 08 16; 8(1):271.