Search results for "Translation"

Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development

2018

AbstractDe novo germline mutations in the RNA helicase DDX3X account for 1-3% of unexplained intellectual disability (ID) cases in females, and are associated with autism, brain malformations, and epilepsy. Yet, the developmental and molecular mechanisms by which DDX3X mutations impair brain function are unknown. Here we use human and mouse genetics, and cell biological and biochemical approaches to elucidate mechanisms by which pathogenic DDX3X variants disrupt brain development. We report the largest clinical cohort to date with DDX3X mutations (n=78), demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcomes.…

The primary structure of cytoplasmic initiator tRNAMetfromSchizosaccharomyces pombe

1993

La ragazza nera alla ricerca di Dio

2020

The volume offers the Italian public a new translation of George Bernard Shaw's novella, The Adventures of the Black Girl in Her Search for God (1932), with its facing-page original. In the novella contemporary readers will find the innovative figuration of a young black woman who, along her personal search for God, deconstructs the false myths of the great religions and of European civilization with iconoclastic force, uncovering their contradictions with geopolitical far-sightedness.

Exploiting the Incomparability of Comparable Corpora for Contrastive Linguistics and Translation Studies

2013

For empirical research in translation studies and contrastive linguistics comparability across languages is an important and non-trivial issue, particularly, if we aim at quantifying differences and commonalities. We approach this problem by investigating the CroCo Corpus of English and German originals and translations in eight different registers concentrating on the (in)comparability of the different subcorpora. They are comparable across languages but incomparable in terms of functional, i.e. register, variation. A feature matrix is analysed to reveal differences and commonalities between the bilingually comparable texts (i.e. English and German originals) and the monolingually comparab…

Genotypic and phenotypic aspects of longevity: results from a Sicilian survey and implication for the prevention and the treatment of age-related dis…

2019

Background:It is well known that long living individuals are a model of successful ageing and that the identification of both genetic variants and environmental factors that predispose to a long and healthy life is of tremendous interest for translational medicine.Methods:We present the preliminary findings obtained from an ongoing study on longevity conducted on a sample of Sicilian long-lived individuals.Results:We review the characteristics of longevity in Sicily, taking into account lifestyle, environment, genetics, hematochemical values, body composition and immunophenotype. In addition, we discuss the possible implications of our data for the prevention and/or treatment of age-related…

Menstruation: science and society

2020

© 2020 The Authors Women's health concerns are generally underrepresented in basic and translational research, but reproductive health in particular has been hampered by a lack of understanding of basic uterine and menstrual physiology. Menstrual health is an integral part of overall health because between menarche and menopause, most women menstruate. Yet for tens of millions of women around the world, menstruation regularly and often catastrophically disrupts their physical, mental, and social well-being. Enhancing our understanding of the underlying phenomena involved in menstruation, abnormal uterine bleeding, and other menstruation-related disorders will move us closer to the goal of p…

Redes de colaboración y autorías científicas sobre la enfermedad de Chagas: análisis de las publicaciones indexadas en PubMed (1940-2009)

2012

Chagas disease is a chronic, tropical, parasitic disease, endemic throughout Latin America. The large-scale migration of populations has increased the geographic distribution of the disease and cases have been observed in many other countries around the world. To strengthen the critical mass of knowledge generated in different countries, it is essential to promote cooperative and translational research initiatives. We analyzed authorship of scientific documents on Chagas disease indexed in the Medline database from 1940 to 2009. Bibliometrics was used to analyze the evolution of collaboration patterns. A Social Network Analysis was carried out to identify the main research groups in the are…

Chance and Causality in Ageing and Longevity

2019

Longevity is not a matter of genes. This is the message that appeared last year in all the newspapers of the world, according to a study due to a joint venture between the statisticians of Ancestry and Calico Life Sciences that has dissected the genealogical trees of 400 million individuals, tracing back generations, and including dates of birth, death, places, and family ties. The genes would have little to do with longevity: in a percentage perhaps even less than 10% [1]. However, this extensive study has analysed the influence of genetics in terms of lifespan, but not in terms of longevity. Longevity may be defined in relative and absolute terms [2]. Longevity, indeed, may be considered …

Antioxidants in Translational Medicine.

2015

This Open Access article is distributed under the terms of the Creative Commons Attribution Noncommercial License.-- et al.

Schöne neue Welt der Prävention? Zu Voraussetzungen und Reichweite von Public Health Genetics

2007

Recent developments in molecular genetics and genomics have not only provided new insights into the biological foundation of life but have also brought about significant changes in the ways health and disease are understood. Nowadays, understanding how the human genome interacts with health-related behaviour and diverse environments is recognised to be the key for biomedical innovation. Even though advances in genetics and genomics have unveiled a whole new complexity of the genetic underpinnings of health and disease and clearly show the need for further investigation, studies of health-related genetic traits already give rise to novel approaches to prevention. As a relatively new field Pu…