Below are the most recent publications written about "Codon, Nonsense" by people in Profiles.
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Paredes DI, Bello NR, Capasso JE, Procopio R, Levin AV. Mutations in AGBL5 associated with Retinitis pigmentosa. Ophthalmic Genet. 2024 06; 45(3):275-280.
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Rayinda T, McSweeney SM, Lalagianni N, Liu L, Guy A, Fenton D, Stefanato CM, Dand N, McGrath JA, Tziotzios C. Familial hypotrichosis simplex of the scalp associated with a novel heterozygous nonsense variant in CDSN. Clin Exp Dermatol. 2023 04 27; 48(5):579-583.
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Sheriff A, Guri I, Zebrowska P, Llopis-Hernandez V, Brooks IR, Tekkela S, Subramaniam K, Gebrezgabher R, Naso G, Petrova A, Balon K, Onoufriadis A, Kujawa D, Kotulska M, Newby G, Laczmanski L, Liu DR, McGrath JA, Jack?w J. ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation. Sci Rep. 2022 11 16; 12(1):19643.
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Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A. PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing. Am J Med Genet A. 2022 09; 188(9):2825-2831.
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O'Sullivan S, Ozoemena L, Liu L, McGrath JA, Mellerio JE, Martinez AE. PLACK syndrome: the penny dropped. Clin Exp Dermatol. 2020 Dec; 45(8):1091-1092.
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Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis. J Invest Dermatol. 2020 06; 140(6):1285-1288.
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Lincoln V, Cogan J, Hou Y, Hirsch M, Hao M, Alexeev V, De Luca M, De Rosa L, Bauer JW, Woodley DT, Chen M. Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. Proc Natl Acad Sci U S A. 2018 07 10; 115(28):E6536-E6545.
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Ohguchi Y, Nomura T, Suzuki S, Takeda M, Miyauchi T, Mizuno O, Shinkuma S, Fujita Y, Nemoto O, Ono K, McLean WHI, Shimizu H. Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts. J Invest Dermatol. 2018 04; 138(4):836-843.
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Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW, Hsu CK, Simpson MA, McGrath JA. Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. Am J Med Genet A. 2017 Nov; 173(11):3109-3113.
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Atanasova VS, Jiang Q, Prisco M, Gruber C, Pi??n Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2017 09; 137(9):1842-1849.