mutation 1.Inheritable change in a gene‘s DNA. 2.Change in a gene orgenesof a living cell. A mutation in some way changes the cell’s characteristics and will be inherited.Seechromosome,genes. Dictionary of Unfamiliar Words by Diagram Group Copyright © 2008 by Diagram Visual Information ...
Explore nonsense mutations. Learn the definition of nonsense mutation and understand its effects on proteins. Discover examples of nonsense mutations.
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Identification of a novel nonsense mutation in gene (A) Pedigree of the family with X-linked ichthyosis. The proband (IV:23) is noted with an arrow. ■, affected male; ●, affected female; , healthy male; ○, healthy female. (B) Sequencing chromatogram showing the wild type normal ...
Optimization of the circ-arRNA for human IDUAW402Xmutation transcripts in cultured cells.ADiagram illustrating the human Hurler syndrome mouse model and corresponding reporter system.B–DThe percentage of eGFP+cells indicating the editing rate of various circ-arRNA designs targeting the reporter transcr...
(C) Quantitation of reactive oxygen species (ROS) in the proband’s fibroblasts with the nonsense mutation and normal control fibroblasts performed using the cell-permeable fluorogenic probe 2′,7′-dichlorodihydrofluorescein diacetate (p = 0.0015). Data are shown as the mean value ± ...
Here we show that rAAV delivery of a suppressor tRNA (rAAV.sup-tRNA) safely and efficiently rescued a genetic disease in a mouse model carrying a nonsense mutation, and effects lasted for more than 6 months after a single treatment. Mechanistically, this was achieved through a synergistic ...
The data indicate that although FUS autoregulates its own level in the mouse central nervous system (CNS) to maintain a homeostatic level at 3 months of age, ALS-linked FUS mutation showed age-dependent increased accumula- tion by 12 months of age. Collectively, the data suggest that: ...
To test this possibility, we examined the turnover of PGK1C22 in a dcp1-2 strain, which is a temperature-sensitive mutation in a subunit of the decapping enzyme. This allele is fully functional at 24°C, partially functional at 30°C, and inactive at 37°C (Tharun and Parker, 1999)...
aThe schematic diagram of NMD reporter mRNAs: FLAG-GPx1-Norm and -Ter [harboring either a normal termination codon or premature termination codon (PTC), respectively]. The regions encoding three tandem repeats of the FLAG tag (3xFLAG) andGPx1are specified by black and dark gray boxes, respect...