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Η γενετική δομή του γονιδίου LRRK2 στον κόσμο
No full textΒιβλιογραφία: σ. 37-41Το γονίδιο LRRK2 κωδικοποιεί για μια μεγάλη και σύνθετη πρωτεΐνη που ονομάζεται leucine-rich repeat kinase 2 και εκφράζεται ευρέως σε πληθώρα οργάνων και ιστών των θηλαστικών. Μεταλλάξεις στο γονίδιο έχουν συσχετιστεί με πολλές ανθρώπινες νόσους, συμπεριλαμβανομένης της οικογενής μορφής της νόσου του Πάρκινσον, της παχυσαρκίας καθώς και με φλεγμονώδεις διαταραχές του εντέρου όπως η νόσος του Crohn. Παρά τη μεγάλη του σημασία, μέχρι και σήμερα λίγα πράγματα είναι γνωστά για την ακριβή παθοφυσιολογία του. Στη παρούσα εργασία μελετήθηκε η γενετική δομή του γονιδίου LRRK2 σε 12 πληθυσμούς από το 1000 Genomes Project. Τα πρότυπα ανισορροπίας σύνδεσης που εξετάσθηκαν μέσω του προγράμματος Haploview, υποδεικνύουν την έντονη ποικιλομορφία των υπό μελέτη πληθυσμών, παρουσιάζοντας μεγαλύτερη ομοιότητα ανάμεσα σε πληθυσμούς που έχουν κοινή καταγωγή ή βρίσκονται σε μικρή γεωγραφική απόσταση.The LRRK2 gene is expressed in diverse mammalian cell types and encodes a large protein called leucine-rich repeat kinase 2. Mutations along the gene have been linked to multiple diseases, including a prominent association with familiar Parkinson's disease, obesity as well as inflammatory bowel disorders such as Croh^s disease. Despite its association with human disease, very little is known about its pathophysiology. In this current study we examined the genetic structure and diversity of the LRRK2 gene. We studied the patterns of linkage disequilibrium (LD) in the human genome among 12 populations from the 1000 Genomes Project. Our results suggest that the variance in LD that was demonstrated by the Haploview software, can be attributed to the diversity among the populations. Populations which share common ancestry and geographical proximity display the greatest extent of homogeneity.41 σ
Εκτίμηση παραμέτρων πληθυσμιακής γενετικής στο ανθρώπινο εντερικό μικροβίωμα
No full textThe human body carries a dense and complex community of microorganisms that contribute
to our health and wellbeing, called the human microbiota. The adult gut in particular, is the
most densely populated habitat on the human body. It harbours a dynamic ecosystem that
offers many benefits to the host, thought a range of physiological functions. The advent of
culture independent approaches such as high-throughput sequencing methods along with
sophisticated computational methods have gravely improve our ability to explore the breadth
of the gut microbiota, while it’s role in a large number of intestinal and extraintestinal
diseases has become apparent. There is extensive research in exploring the vast amount of
genetic diversity that characterize the human microbiome, with the pioneering work of the
Human Microbiome Project (HMP) notably influencing the field. However, combinations of
molecular and ecological approaches to investigate the evolutionary forces that drive this
microbial variability have been limited. In the current study, we explored the taxonomic and
genetic diversity of microbial communities colonizing the gut of healthy individuals from the
1s t phase of the HMP. By applying population genetic methodologies on reconstructed whole
genome sequence data, we modeled the phylogenetic history and population demography of
prevalent bacteria species in the human gut
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe 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
Full text link“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
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe 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
Full text linkWe 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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