1,720,971 research outputs found
ERCC6L2-related disease: a novel entity of bone marrow failure disorder with high risk of clonal evolution
Full text linkERCC excision repair 6 like 2 (ERCC6L2) gene encodes for different helicase-like protein members of the Snf2 family involved in transcription-coupled nucleotide excision repair and in cell proliferation. Germline homozygous mutations in children and adults predispose to a peculiar bone marrow failure phenotype characterized by mild hematological alterations with a high risk of developing acute myeloid leukemia. The outcome for patients with leukemia progression is dismal while patients undergoing hematopoietic stem cell transplantation in the early stage have better outcomes. The ERCC6L2-related hematological disease presents a high penetrance, posing important questions regarding the treatment strategies and possible preemptive approaches. This review describes the biological function of ERCC6L2 and the clinical manifestations of the associated disease, trying to focus on the unsolved clinical questions
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
Study of pathway alterations in Gaucher disease by induced pluripotent stem cell models
Full text linkGaucher disease (GD) is a lysosomal storage disorder characterized by β-glucocerebrosidase enzyme deficiency, due to mutations in the GBA1 gene. GD patients, even if affected by a monogenic disease, exhibit a wide range of symptoms, ranging from very mild hematological and visceral phenotypes, to severe neurological involvement. The absence of a clear genotype-phenotype correlation supports the idea that other players act together with GBA1 mutations to give rise to the final clinical picture.
To identify new pathway alterations occurring in the pathological condition, GD patient derived induced pluripotent stem cell (iPSC) lines have been generated, characterized and isogenic gene corrected in the mutation site. iPSC differentiation towards the macrophage fate has been employed to investigate the hematopoietic compartment. While GD iPSCs are able to efficiently give rise to CD43+/CD45+ progenitors and mature CD14+/CD163+ monocyte/macrophages, they showed a decreased proliferative potential compared to healthy donor cells. The activation of necroptosis pathway, emerged in both pluripotent and differentiated GD cells, that showed a significant upregulation of the effectors, RIPK3 and MLKL. To dissect brain inflammatory mechanisms, iPSC have been differentiated to neural precursor cells (NPC) and dopaminergic neurons. GD cells presented also at the NPC state both a growth deficit and an increased cell death rate. Since the Hippo pathway is involved in the control of many cellular mechanisms as proliferation, differentiation and cell death, we evaluated its activation in GD lines. Interestingly, many of the pathway transcriptional targets were downregulated in GD neurons and the nuclear localization of YAP, the main pathway effector, resulted reduced, suggesting that the Hippo pathway core is highly activated in the pathogenic context.
The identification of altered signalling pathways that may contribute to the cellular metabolism imbalance, are instrumental in the development of new pharmacological approaches to GD that are especially required for neuronopathic patients
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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