Search results for " translation."
showing 10 items of 474 documents
Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma
2006
Hereditary predisposition to retinoblastoma (RB) is caused by germline mutations in the retinoblastoma 1 (RB1) gene and transmits as an autosomal dominant trait. In the majority of cases disease develops in greater than 90% of carriers. However, reduced penetrance with a large portion of disease-free carrier is seen in some families. Unambiguous identification of the predisposing mutation in these families is important for accurate risk prediction in relatives and their genetic counseling but also provides conceptual information regarding the relationship between the RB1 genotype and the disease phenotype. In this study we report a novel mutation detected in 10 individuals of an extended fa…
Results from Finland’s 2014 Report Card on Physical Activity for Children and Youth
2014
The Finnish 2014 Report Card on Physical Activity (PA) for Children and Youth is the first assessment of Finland’s efforts in promoting and facilitating PA opportunities for children and youth using the Active Healthy Kids Canada grading system. The Report Card relies primarily on research findings from 6 Research Institutes, coordinated by the University of Jyväskylä. The Research Work Group convened to evaluate the aggregated evidence and assign grades for each of the 9 PA indicators, following the Canadian Report Card protocol. Grades from A (highest) to F (lowest) varied in Finland as follows: 1) Overall physical activity—fulfillment of recommendations (D), 2) Organized sport participat…
A translational paradigm to dtudy the rffects of uncontrollable stress in humans
2020
Theories on the aetiology of depression in humans are intimately linked to animal research on stressor controllability effects. However, explicit translations of established animal designs are lacking. In two consecutive studies, we developed a translational paradigm to study stressor controllability effects in humans. In the first study, we compared three groups of participants, one exposed to escapable stress, one yoked inescapable stress group, and a control group not exposed to stress. Although group differences indicated successful stress induction, the manipulation failed to differentiate groups according to controllability. In the second study, we employed an improved paradigm and co…
A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation
2012
Translational read-through-inducing drugs (TRIDs) promote read-through of nonsense mutations, placing them in the spotlight of current gene-based therapeutic research. Here, we compare for the first time the relative efficacies of new-generation aminoglycosides NB30, NB54 and the chemical compound PTC124 on retinal toxicity and read-through efficacy of a nonsense mutation in the USH1C gene, which encodes the scaffold protein harmonin. This mutation causes the human Usher syndrome, the most common form of inherited deaf-blindness. We quantify read-through efficacy of the TRIDs in cell culture and show the restoration of harmonin function. We do not observe significant differences in the read…
Hope for Disease-Modifying Treatment of Systemic Sclerosis/Scleroderma
2014
Systemic sclerosis (SSc), or scleroderma, similar to many fibrotic disorders, lacks effective therapies. Current trials focus on anti-inflammatory drugs or targeted approaches aimed at one of the many receptor mechanisms initiating fibrosis. In light of evidence that a myocardin-related transcription factor (MRTF)–and serum response factor (SRF)–regulated gene transcriptional program induced by Rho GTPases is essential for myofibroblast activation, we explored the hypothesis that inhibitors of this pathway may represent novel antifibrotics. MRTF/SRF-regulated genes show spontaneously increased expression in primary dermal fibroblasts from patients with diffuse cutaneous SSc. A novel small-m…
Museums as disseminators of niche knowledge: Universality in accessibility for all
2019
Accessibility has faced several challenges within audiovisual translation Studies and gained great opportunities for its establishment as a methodologically and theoretically well-founded discipline. Initially conceived as a set of services and practices that provides access to audiovisual media content for persons with sensory impairment, today accessibility can be viewed as a concept involving more and more universality thanks to its contribution to the dissemination of audiovisual products on the topic of marginalisation. Against this theoretical backdrop, accessibility is scrutinised from the perspective of aesthetics of migration and minorities within the field of the visual arts in mu…
Iron in Translation: From the Beginning to the End
2021
Iron is an essential element for all eukaryotes, since it acts as a cofactor for many enzymes involved in basic cellular functions, including translation. While the mammalian iron-regulatory protein/iron-responsive element (IRP/IRE) system arose as one of the first examples of translational regulation in higher eukaryotes, little is known about the contribution of iron itself to the different stages of eukaryotic translation. In the yeast Saccharomyces cerevisiae, iron deficiency provokes a global impairment of translation at the initiation step, which is mediated by the Gcn2-eIF2α pathway, while the post-transcriptional regulator Cth2 specifically represses the translation of a subgroup of…
Migration for Knowledge. A Circumnavigation Between West andEast
2020
Migration of men has always been accompanied by a migration of knowledge, whether scientific or related to the tradition to which they belong. This article aims to highlight the transition of Greek sophia from the West to Persia and from Baghdad to the East. A movement of thought analyzed by Muslims experts and translators during the Middle Age. The process of translation and transmission of knowledge will accomplish an opposite periplus during the Napoleonic era, going back from the West to the Arab world. This process will give birth to the nahḍa phase, which is the cultural and literary awakening that will bring the Islamic countries living under the European colonization to meet and int…
Introduction. The aesthetics of migration: Reversals of marginality and the socio-political translation turn
2018
Translation has imposed itself with determination as a condition for intercultural and linguistic exchanges among human beings living in distant parts of the globe for millennia. Not only has it contributed to the understanding of sociocultural structures, political systems, and technological and digital processes, but it has also encouraged our knowledge of the world – strengthening our awareness of marginalities, liminalities and otherness, and, certainly, widening our interlinguistic and intercultural, as well as translinguistic and transcultural horizons. This volume ranges across disciplines and subjects in translation studies, critical migration and border studies, the visual and perf…
Constructing places and identities : migration and the role of translation in Leila Aboulela's The Translator and Lyrics Alley
2014
This study focuses on the role of translation as an instrument of construction of places and immigrant identities in the spaces of immigration. The investigation is based on a critical and theoretical correlation and interdisciplinary relation between theories of spaces/places, translation studies and literary forms of immigrant writing.