1,720,967 research outputs found
R-spondina1 e il suo ruolo nella determinazione e differenziazione sessuale
Get PDFSex development comprises a series of sequential events that act under strong genetic control. This complex process is responsible for the achievement of sexual dimorphism and functionality, necessary for reproduction and maintenance of the species. Sex development is the result of the interactions of multiple time and dose-sensitive genes. Although in the last 15 years important scientific progress has been made in our knowledge of the molecular pathways and genes underlying sex development, many factors still remain unknown. Any dysregulation of the mechanisms responsible for sex development may lead to “Disorders of Sex Development” (DSDs), comprising a large group of congenital conditions characterized by “atypical development of chromosomal, gonadal or phenotypic sex”. Due to the complex clinical considerations associated with DSD patients, a precise and well-timed diagnosis is absolutely indispensable. A correct diagnosis is essential to make decisions regarding correct gender assignment and is the basis for appropriate short- and long-term management of DSD patients, to optimise future quality of life. Development of appropriate diagnostic and therapeutic protocols is strongly linked to a deeper understanding of the complex molecular/genetic pathways at the basis of sex development. The purpose of this research has been to improve our understanding of sex development and to provide new insights into the causes of DSDs by studying RSPO1, a new gene we demonstrated to be involved in gonadal development. R-spondin1, a member of a new protein family involved in Wnt/β-catenin pathway, is a gene we discovered to be mutated in a patient with a syndromic form of XX “true hermaphroditism”. The effects of this mutation on mRNA and protein production have been investigated. Moreover, differences between wild-type and mutant protein found in our patient have been evaluated, by investigating RSPO1 cellular expression, localization and secretion. To clarify the mechanism of action of RSPO1, functional analysis has been performed using luciferase assays. Preliminary data about identification of RSPO1 target pathways and genes have been achieved by overexpression and microarray approaches. The work of this thesis has led to further elucidate the role of R-spondin1 in gonadal determination and to expand the spectrum of DSD phenotypes related to RSPO1 mutations. Our studies to define the role of R-spondin1 might lead to the development of new tools in the diagnosis and treatment of DSD pathologies
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
The RNA editing enzymes ADARs: Mechanism of action and human disease
No full textA-to-I RNA editing is a ubiquitous and crucial molecular mechanism able to convert adenosines into inosines (then read as guanosines by several intracellular proteins/enzymes) within RNA molecules, changing the genomic information. The A-to-I deaminase enzymes (ADARs), which modify the adenosine, can alter the splicing and translation machineries, the double-stranded RNA structures and the binding affinity between RNA and RNA-binding proteins. ADAR activity is an essential mechanism in mammals and altered editing has been associated with several human diseases. Many efforts are now being concentrated on modifying ADAR activity in vivo in an attempt to correct RNA editing dysfunction. Concomitantly, ongoing studies aim to show the way that the ADAR deaminase domain can be used as a possible new tool, an intracellular Trojan horse, for the correction of heritage diseases not related to RNA editing events. © 2014 Springer-Verlag
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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