Search results for "Editing"

The sharedneoantigen landscape of MSI cancers reflects immunoediting during tumor evolution

2019

AbstractThe immune system can recognize and attack cancer cells, especially those with a high load of mutation-inducedneoantigens. Suchneoantigens are particularly abundant in DNA mismatch repair (MMR)-deficient, microsatellite-unstable (MSI) cancers. MMR deficiency leads to insertion/deletion (indel) mutations at coding microsatellites (cMS) and toneoantigen-inducing translational frameshifts. The abundance of mutationalneoantigens renders MSI cancers sensitive to immune checkpoint blockade. However, the neoantigen landscape of MMR-deficient cancers has not yet been systematically mapped. In the present study, we used a novel tool to monitorneoantigen-inducing indel mutations in MSI colore…

Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

2021

Cystic fibrosis (CF) is a genetic disease that causes absence or dysfunction of a protein named transmembrane conductance regulatory protein (CFTR) that works as an anion channel. As a result, the secretions of the organs where CFTR is expressed are very viscous, so their functionality is altered. The main cause of morbidity is due to the involvement of the respiratory system as a result of recurrent respiratory infections by different pathogens. In recent decades, survival has been increasing, rising by around age 50. This is due to the monitoring of patients in multidisciplinary units, early diagnosis with neonatal screening, and advances in treatments. In this chapter, we will approach t…

First World War Diaries: Making the Private Public

2020

This article analyses several World War I Diaries written by soldiers on the Front. Starting with the circumstances of publication and their effects on the text, the article addresses the passage of these very private texts into public life, before turning to the role played by the diaries for the soldiers who write them. Studies of the diary as a genre are used to show how war diaries fit into the more general genre. Finally the article turns to the reception of these works, by studying what part literary distance may play for the soldiers keeping a diary, and by arguing that the task of making sense of these texts has been transferred to present-day readers.

Trandix: Herramienta Proactiva para la Búsqueda Terminológica del Traductor y su Evaluación

2014

This article is the English version of “Trandix: herramienta proactiva para la búsqueda terminológica del traductor y su evaluación” by Isabel Durán Muñoz & Alejandro Fernández Sola. It was not published on the print version of MonTI for reasons of space. The online version of MonTI does not suffer from these limitations, and this is our way of promoting plurilingualism. This paper analyses current trends in the terminological field and translators’ needs regarding terminological resources. In this context, it presents the Trandix tool, a novel software application that intends to enhance efficiency in terminological searches conducted by translators. In addition to its main features, this …

National e-resources of Shakespeare translations in Europe: (Dis)assembling the black box

2019

This article discusses the construction, operation and scholarly usefulness of electronic resources of Shakespeare translations. In particular, it offers an overview of several existing European digital resources of Shakespeare translations by singling out trends, challenges and new vistas of research; describing the content, editing policies and functionalities of selected European projects, already in operation or currently assembled; and discussing the aims and major difficulties faced by the researchers, the choice of navigation and search tools, the possibilities of integrating national repositories with other resources and the relation of translation e-resources to adjacent disciplin…

Nucleotide excision repair of abasic DNA lesions

2019

AbstractApurinic/apyrimidinic (AP) sites are a class of highly mutagenic and toxic DNA lesions arising in the genome from a number of exogenous and endogenous sources. Repair of AP lesions takes place predominantly by the base excision pathway (BER). However, among chemically heterogeneous AP lesions formed in DNA, some are resistant to the endonuclease APE1 and thus refractory to BER. Here, we employed two types of reporter constructs accommodating synthetic APE1-resistant AP lesions to investigate the auxiliary repair mechanisms in human cells. By combined analyses of recovery of the transcription rate and suppression of transcriptional mutagenesis at specifically positioned AP lesions, w…

Gene therapy and editing in the treatment of hereditary blood disorders: Medical and ethical aspects

2021

Gene therapy and gene editing are revolutionising the treatment of genetic diseases, most notably haematological disorders. This paper evaluates the use of both techniques in hereditary blood disorders. Many studies have been conducted in this field, especially with gene therapy, with very promising results in diseases such as haemophilia, certain haemoglobinopathies and Fanconi anaemia. The application of these techniques in clinical practice and the foreseeable development of these approaches in the coming years suggest that it might be useful to evaluate the results achieved thus far. It is also essential to reflect on the possible bioethical concerns raised by the use of both technique…

Normal intestinal dietary fat and cholesterol absorption, intestinal apolipoprotein B (ApoB) mRNA levels, and ApoB-48 synthesis in a hypobetalipoprot…

1997

Abstract The purpose of this study was to characterize intestinal apolipoprotein B (apoB) metabolism in subjects with familial hypobetalipoproteinemia (FHBL), where segregation analysis supports linkage to the apoB gene but no apoB truncations are present. We investigated cholesterol and fat absorption, intestinal apoB mRNA synthesis and editing, as well as apoB-48 synthesis. Plasma triglycerides (TG) and retinyl palmitate in the chylomicron fractions were analyzed after 12 hours of fasting and then repeatedly for 14 hours after ingestion of a vitamin A—containing high-fat meal. Cholesterol absorption was assessed using a dual stable-isotope method. Mean peak times and concentrations and ar…

John Edgar Wideman, lecteur-archiviste de Frantz Fanon

2017

This article intends to read Fanon, a Novel, written in 2008 by John Edgar Wideman, as an attempt to decolonize the archive, more specifically the Fanonian archive. Rather than trying to exhume the legacy of the Martiniquan thinker, the novel proposes to set Fanon’s thought in motion, allowing it to unfold before the reader’s eyes. Thus summoned up, the archive assumes an eminently political role. No longer an origin in a teleological narrative, it can only be apprehended by a text that deliberately practices generic blurring and intermingling as a mode of writing. In Fanon, a Novel, the intersection between fiction and the archive serves as a productive space where national and colonial gr…

2016

RNA 2'-O-methylation is one of the ubiquitous nucleotide modifications found in many RNA types from Bacteria, Archaea and Eukarya. RNAs bearing 2'-O-methylations show increased resistance to degradation and enhanced stability in helices. While the exact role of each 2'-O-Me residue remained elusive, the catalytic protein Fibrillarin (Nop1 in yeast) responsible for 2'-O-methylation in eukaryotes, is associated with human pathologies. Therefore, there is an urgent need to precisely map and quantify hundreds of 2'-O-Me residues in RNA using high-throughput technologies. Here, we develop a reliable protocol using alkaline fragmentation of total RNA coupled to a commonly used ligation approach, …