Search results for "Editing"
showing 10 items of 94 documents
Hutchinson Gilford Progeria Syndrome: A Therapeutic Approach via Adenoviral Delivery of CRISPR/cas Genome Editing System
2015
Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare human genetic disease caused by mutations in the LMNA gene. LMNA codes for structural components of the nuclear lamina. Alterations of nuclear lamina lead to a very variable class of diseases known as laminopathies. In detail, HGPS manifests a severe premature ageing phenotype due to the accumulation of a dominant negative form of lamin-A called progerin. With current treatments, the life expectancy of HGPS patients does not exceed their second decade. Death is usually due to cardiovascular complications. Recently, a new technology for mammals in vivo gene editing has been developed: the clustered regularly interspaced short palindromic …
In vitro genome editing using CRISPR/Cas9 to edit SERPINA1 PiZ mutation
2019
Introduction: The emergence some years ago of the CRISPR/Cas9 system allowed gene therapy to be specific, versatile, cheap and approachable to almost every laboratory. Due to these features, many different genetic diseases such as cystic fibrosis or β-thalassemia have been addressed in cellular models using the CRISPR/Cas9 genetic editing tool. Alpha-1 antytripsin deficiency (AATD) is a rare genetic condition that can provoke respiratory and hepatic symptoms. The Z allele of SERPINA1 gene is a well-characterised point mutation that can trigger the whole pathology. Henceforth, Z mutation is a suitable target for genetic edition using CRISPR/Cas9 in order to develop a gene therapy to treat AA…
Modificazioni germinali del patrimonio genetico e biodiritto. I paradossi della de-differenziazione tra bioetica e biodiritto
2021
Il presente lavoro, incominciato nel novembre del 2017, è partito con l'ambizione di ricostruire la risposta che il sistema giuridico fornisce innanzi alle nuove tecniche di ingegneria genetica che, a fronte della loro applicabilità sugli esseri umani, hanno prodotto, negli ultimi anni, il sorgere di nuovi stakeholders e, ancor prima, di nuovi interessi meritevoli di tutela. Se fino a qualche anno fa pareva impensabile modificare il genoma umano e, men che meno, farlo in maniera precisa, efficiente ed economica, oggi grazie al sistema di modificazione genetica CRISPR/Cas9 è possibile, intervenendo sulla linea germinale degli embrioni umani, prevenire la contrazione di odiose malattie geneti…
Translational adaptation to heat stress is mediated by RNA 5‐methylcytosine in Caenorhabditis elegans
2021
Abstract Methylation of carbon‐5 of cytosines (m5C) is a post‐transcriptional nucleotide modification of RNA found in all kingdoms of life. While individual m5C‐methyltransferases have been studied, the impact of the global cytosine‐5 methylome on development, homeostasis and stress remains unknown. Here, using Caenorhabditis elegans, we generated the first organism devoid of m5C in RNA, demonstrating that this modification is non‐essential. Using this genetic tool, we determine the localisation and enzymatic specificity of m5C sites in the RNome in vivo. We find that NSUN‐4 acts as a dual rRNA and tRNA methyltransferase in C. elegans mitochondria. In agreement with leucine and proline bein…
L'edizione critica digitale. La critica del testo nella storia della tradizione
2019
The traditional output of philological work aiming at the constitutio textus is the print critical edition with apparatus footnotes showing select variant readings. The digital scholarly edition, instead, is not constrained by the space limits of the printed page, so it can encode and visualize synoptically many versions of a text, as found in different textual witnesses. This opportunity has often been exploited by New Philology editions, in which textual versions are juxtaposed without any attempt to reconstruct an "original" text. However, the digital critical edition can constitute a "third way" between constitutio textus and New Philology: the digital editor can provide different versi…
Translating the Idea of the eGovernment One-Stop-Shop in Indonesia
2013
Article from the Book:Information and Communication Technology, Springer 2013. Also available on SpringerLink:http://dx.doi.org/10.1007/978-3-642-36818-9_1 This study aims to understand how the idea of an eGovernment one- stop-shop (OSS) has been translated into a new setting. Since the beginning of 2000, this idea has been implemented in a variety of ways by Indonesian local governments. Using an interpretive case study in the city of Yogyakarta, the study revealed that the specificity of each setting influences the translation process of the idea of OSS during its institutionalization. It also identified a set of editing rules used during the translation process. These include the editing…
Layout algorithms of graph-like diagrams for GRADE windows graphic editors
1996
We propose a set of layout operations ensuring flexible and convenient interactive editing of communication diagrams and nested entity-relationship models having textual labels on connections. The set includes several procedures for incremental diagram layout. Tools for fully automatic layout and for direct manual painting of graphic primitives are also integrated in a single system. In this way we have filled to some extent the gap between both extremal levels of editing.
Why Translation Is Difficult
2017
The paper develops a definition of translation literality that is based on the syntactic and semantic similarity of the source and the target texts. We provide theoretical and empirical evidence that absolute literal translations are easy to produce. Based on a multilingual corpus of alternative translations we investigate the effects of cross-lingual syntactic and semantic distance on translation production times and find that non-literality makes from-scratch translation and post-editing difficult. We show that statistical machine translation systems encounter even more difficulties with non-literality.
La novela negra como «transgénero»: éticas transnacionales en la feminización del canon
2021
El presente trabajo supone una pequeña aportación en la búsqueda de modelos de análisis «interseccionales» (Hill Collins y Bilge 2016/2020) que permitan analizar desde el feminismo las denominadas «transnacionalidades mínimas» (Lionnet y Shih 2005). Modelos que, en definitiva, superen la todavía fuerte adscripción de muchos feminismos a los bloques geotextuales heredados del patriarcado. Desde sus orígenes, los feminismos han empleado la traducción para subvertir los géneros textuales (Godard 1987: 6; Simon 1996: 46) y, en definitiva, para luchar contra el ostracismo literario que comparten con otros colectivos de la lucha postcolonial. Unas y otros han visto su diálogo y mutua comprensión …
Apporti al testo dell' <i>Orestis tragoedia</i> di Draconzio nell' Ottocento
2005
The textual contributions – about an hundred – produced either in the critical editions of the Dracontius’ Orestis tragoedia from 1858 to 1883, or in the works of Rothmaler (1865), L. Mu.ller (1866) and Rossberg (1878 / 79 / 83), are often obvious, but they are cometimes advantage due to laudable attention and right reflections. Notwithstanding, because of the many wrong marked gaps, transpositions and corrections, no edition presents an acceptable text of the epyllion.