Processes by which children interpret homonyms were examined. Participants were 16 two- and three-year-olds, 32 four-year-olds, 32 seven-year-olds and 32 ten-year-olds. Each child individually was asked to interpret keywords from stories read aloud by an examiner. Keywords were homonyms, nonsense words, or unambiguous words. For the three older groups, response times (RTs) to unambiguous words ...

Approaches that improve upon the pharmacokinetic and pharmacodynamic properties of singlestrand antisense oligonucleotides are an active research topic. Antisense oligonucleotide phosphorothioates (ASOs) are highly protein bound. Therefore, it is likely that they traffic into and through cells via a protein to protein shuttling mechanism driven by binding affinity gradients.1 The ASO binding ev...

Translational readthrough of nonsense codons is seen not only in organisms possessing one or more tRNA suppressors but also in strains lacking suppressors. Amber suppressor tRNAs have been reported to suppress only amber nonsense mutations, unlike ochre suppressors, which can suppress both amber and ochre mutations, essentially due to wobble base pairing. In an Escherichia coli strain carrying ...

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder manifesting with ectopic connective tissue mineralization, caused by mutations in the ABCC6 gene, with ~35% of all mutations being premature termination mutations. In this study, we investigated the therapeutic potential of the nonsense codon read-through-inducing drug, PTC124, in treating PXE. The ability of this drug to facilit...

Nonsense-mediated mRNA decay (NMD), the loss of mRNAs carrying premature stop codons, is a process by which cells recognize and degrade nonsense mRNAs to prevent possibly toxic effects of truncated peptides. Most mammalian nonsense mRNAs are degraded while associated with the nucleus, but a few are degraded in the cytoplasm; at either site, there is a requirement for translation and for an intr...

Submit Manuscript | http://medcraveonline.com Abbreviations: NMD: Nonsense-Mediated mRNA Decay; ISE: Intronic Splicing Enhancer; ESE: Exonic Splicing Enhancer; ISS: Intronic Splicing Silencer; ESS: Exonic Splicing Silencer; PTC: Premature Termination Codon; ASC: Adenosquamous Carcinoma; NAS: Nonsense-associated Altered Splicing; NASRE: NonsenseAssociated Altered Splicing of a Remote Exon; ASO: ...

Yeast mutants resistant to L-canavanine were selected. All were recessive and fell into the can1 complementation group. Nonsense mutations were identified among them by using a set of different suppressors. Frequencies of UAA, UAG, and presumed UGA mutations were 14.8, 0.8, and 0.4%, respectively. A high incidence of nonsense mutations having discriminatory suppression patterns was characterist...

A TaqMan-minor groove binding assay designed around a nonsense mutation in the plcR gene was used to genotype Bacillus anthracis, B. cereus, and B. thuringiensis isolates. The assay differentiated B. anthracis from these genetic near-neighbors and determined that the nonsense mutation is ubiquitous across 89 globally and genetically diverse B. anthracis strains.

Nonsense Mediated Decay (NMD) degrades transcripts that contain a premature STOP codon resulting from mistranscription or missplicing. However NMD's surveillance of gene expression varies in efficiency both among and within human genes. Previous work has shown that the intron content of human genes is influenced by missplicing events invisible to NMD. Given the high rate of transcriptional erro...

The TLR5 gene encodes an innate immunity receptor. Mice lacking Tlr5 (T5KO) develop insulin resistance and increased adiposity. Owing to the segregation of a dominant nonsense polymorphism (R392X, rs5744168), a portion of humans lack TLR5 function. We investigated whether the nonsense polymorphism influences obesity and susceptibility to type 2 diabetes (T2D). R392X was genotyped in two cohorts...