Below are the most recent publications written about "Codon, Nonsense" by people in Profiles.
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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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Ghosh SG, Scala M, Beetz C, Helman G, Stanley V, Yang X, Breuss MW, Mazaheri N, Selim L, Hadipour F, Pais L, Stutterd CA, Karageorgou V, Begtrup A, Crunk A, Juusola J, Willaert R, Flore LA, Kennelly K, Spencer C, Brown M, Trapane P, Hurst ACE, Lane Rutledge S, Goodloe DH, McDonald MT, Shashi V, Schoch K, Tomoum H, Zaitoun R, Hadipour Z, Galehdari H, Pagnamenta AT, Mojarrad M, Sedaghat A, Dias P, Quintas S, Eslahi A, Shariati G, Bauer P, Simons C, Houlden H, Issa MY, Zaki MS, Maroofian R, Gleeson JG. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 2021 02; 29(2):271-279.
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Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 04; 97(4):644-648.
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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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Li M, Johnson JR, Truong B, Kim G, Weinbren N, Dittmar M, Shah PS, Von Dollen J, Newton BW, Jang GM, Krogan NJ, Cherry S, Ramage H. Identification of antiviral roles for the exon-junction complex and nonsense-mediated decay in flaviviral infection. Nat Microbiol. 2019 06; 4(6):985-995.
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Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA. TNNT1 nemaline myopathy: natural history and therapeutic frontier. Hum Mol Genet. 2018 09 15; 27(18):3272-3282.
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Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y. Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B. J Immunol. 2017 12 15; 199(12):4036-4045.
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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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Gorman KM, Lynch SA, Schneider A, Grange DK, Williamson KA, FitzPatrick DR, King MD. Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations. Am J Med Genet A. 2016 Nov; 170(11):3048-3050.
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Soehn AS, Rattay TW, Beck-W?dl S, Sch?ferhoff K, Monk D, D?bler-Neumann M, H?rtnagel K, Schl?ter A, Ruiz M, Pujol A, Z?chner S, Riess O, Sch?le R, Bauer P, Sch?ls L. Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology. 2016 Jul 12; 87(2):186-91.