Search results for "nonsense"

The G428A Nonsense Mutation in FUT2 Provides Strong but Not Absolute Protection against Symptomatic GII.4 Norovirus Infection

2009

In November 2004, 116 individuals in an elderly nursing home in El Grao de Castellón, Spain were symptomatically infected with genogroup II.4 (GII.4) norovirus. The global attack rate was 54.2%. Genotyping of 34 symptomatic individuals regarding the FUT2 gene revealed that one patient was, surprisingly, a non-secretor, hence indicating secretor-independent infection. Lewis genotyping revealed that Lewis-positive and negative individuals were susceptible to symptomatic norovirus infection indicating that Lewis status did not predict susceptibility. Saliva based ELISA assays were used to determine binding of the outbreak virus to saliva samples. Saliva from a secretor-negative individual boun…

A pragmatic study of nonsense, from Lewis Carroll to the Monty Python

2010

This dissertation consists in a study of verbal exchanges in nonsense literature, from the last quarter of the nineteenth century and one of the two fathers of the genre, Lewis Carroll, to the last quarter of the twentieth century and his glorious heirs, the Monty Python. The corpus is taken from the whole of English-speaking nonsense literature, be it English (Lewis Carroll, the Monty Python, N.F. Simpson), Canadian (Stephen Leacock), or American (Robert Benchley, Donald Ogden Stewart, Joseph Heller and the Marx Brothers). As the title indicates, the study of verbal exchanges will rely on pragmatic analysis, pragmatics being the study of how language works as a practice, in social context.…

Effect of Ribavirin on the Mutation Rate and Spectrum of Hepatitis C Virus In Vivo

2009

ABSTRACTTheir extremely error-prone replication makes RNA viruses targets for lethal mutagenesis. In the case of hepatitis C virus (HCV), the standard treatment includes ribavirin, a base analog with an in vitro mutagenic effect, but the in vivo mode of action of ribavirin remains poorly understood. Here, we test the mutagenic effects of ribavirin plus interferon treatment in vivo using a new method to estimate mutation rates based on the analysis of nonsense mutations. We apply this methodology to a large HCV sequence database containing over 15,000 reverse transcription-PCR molecular clone sequences from 74 patients infected with HCV. We obtained an estimate of the spontaneous mutation ra…

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation

2000

Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two epsilon-AChR subunit mutations epsilon1101insT and epsilon1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We have now found homozygosity for the epsilon1293insG mutation in a severely affected CMS patient, who lost the ability to walk in midchildhood and shows profound weakness and muscle wasting. Our observation allows a genotype-phenotype correlation illustrating how differences in the AChR…

2020

The efficiency of chemotherapy drugs can be affected by ATP-binding cassette (ABC) transporter expression or by their mutation status. Multidrug resistance is linked with ABC transporter overexpression. In the present study, we performed rare mutation analyses for 12 ABC transporters related to drug resistance (ABCA2, -A3, -B1, -B2, -B5, -C1, -C2, -C3, -C4, -C5, -C6, -G2) in a dataset of 18 cancer patients. We focused on rare mutations resembling tumor heterogeneity of ABC transporters in small tumor subpopulations. Novel rare mutations were found in ABCC1, but not in the other ABC transporters investigated. Diverse ABCC1 mutations were found, including nonsense mutations causing premature …

A nonsense mutation abrogates production of a functional enterotoxin A in Clostridium difficile toxinotype VIII strains of serogroups F and X.

1999

Clostridium difficile strains of toxinotype VIII from serogroups F and X are described as toxin B-positive, toxin A-negative (TcdB+ A-), although they harbour almost the entire tcdA gene. To identify the reason for the lack of TcdA detection, we analyzed catalytic and ligand domains of TcdA-1470 of the type strain of serogroup F, strain 1470. Using recombinant fragments, the C-terminal immunodominant ligand domain TcdA3-1470, spanning amino acid residues 1694-2711 (corresponding to VPI 10463 sequence), was detected in Western blots. Similar experiments using the recombinant N-terminal catalytic fragment TcdAc1-2-1470 (amino acid positions 1-544) failed. In addition, this fragment showed no …

From Tolstoy's religious meaning of life to Chekhov's melancholia

2015

Se compara Una historia aburrida de Antón Chéjov con La muerte de Iván Ilich de León Tolstói con el fin de dilucidar distintos modos de la crisis de sentido que se fragua a finales del siglo XIX y principios del siglo XX. El relato de Tolstói prefigura la reconstrucción de un sentido de índole religiosa (una humanidad regida por los principios de fraternidad y de no resistencia violenta frente al mal, considerada como el reino de Dios entre nosotros), mientras que Chéjov aceptaría el dictum de Wittgenstein «Creer en un dios significa ver que la vida tiene un sentido» pero no cree que haya dios alguno en que creer. Por último, se pregunta qué moral puede derivarse de tal negación y se recurr…

From Tolstoy's religious meaning of life to Chekhov's melancholia

2015

Se compara Una historia aburrida de Antón Chéjov con La muerte de Iván Ilich de León Tolstói con el fin de dilucidar distintos modos de la crisis de sentido que se fragua a finales del siglo XIX y principios del siglo XX. El relato de Tolstói prefigura la reconstrucción de un sentido de índole religiosa (una humanidad regida por los principios de fraternidad y de no resistencia violenta frente al mal, considerada como el reino de Dios entre nosotros), mientras que Chéjov aceptaría el dictum de Wittgenstein «Creer en un dios significa ver que la vida tiene un sentido» pero no cree que haya dios alguno en que creer. Por último, se pregunta qué moral puede derivarse de tal negación y se recurr…

STUDY OF SMALL MOLECULES IN THE FIGHT AGAINST NONSENSE AND SPLICING MUTATIONS THAT CAUSE CYSTIC FIBROSIS.

2023

Nonsense-mediated mRNA decay controls the changes in yeast ribosomal protein pre-mRNAs levels upon osmotic stress.

2013

The expression of ribosomal protein (RP) genes requires a substantial part of cellular transcription, processing and translation resources. Thus, the RP expression must be tightly regulated in response to conditions that compromise cell survival. In Saccharomyces cerevisiae cells, regulation of the RP gene expression at the transcriptional, mature mRNA stability and translational levels during the response to osmotic stress has been reported. Reprogramming global protein synthesis upon osmotic shock includes the movement of ribosomes from RP transcripts to stress-induced mRNAs. Using tiling arrays, we show that osmotic stress yields a drop in the levels of RP pre-mRNAs in S. cerevisiae cell…