104,750 research outputs found
Susceptibility genes in systemic lupus erythematosus
No full textSystemic lupus erythematosus (SLE) is a complex autoimmune disease for which the incidence and prevalence vary between populations and also between males and females. SLE is characterized by production of pathogenic autoantibodies against nuclear antigens due to a breakdown in self-tolerance and the pathogenesis is associated with the formation of immune complexes, followed by tissue inflammation in multiple organs, such as the skin, joints, heart and kidneys. SLE is an unusually heterogeneous disease and its clinical classification is based on criteria set by the American College of Rheumatology (ACR).Although the underlying pathogenic mechanisms of SLE remain imperfectly understood, both environmental influences and genetic factors have been found to play an important role in disease initiation and progression. Both familial aggregation studies and twin studies support a strong genetic component in SLE and today over 30 convincingly associated SLE susceptibility genes have been identified. Many of these SLE-predisposing genes appear to be involved in similar and/or related biological pathways, including the processing of immune complexes, type I interferon production, and immune signal transduction. Other genes, on the contrary, have no assigned function or obvious role in the immune system, and thus represent ideal candidate to reveal novel disease mechanisms.The aim of this thesis was to study susceptibility genes in SLE, using a number of different approaches. In Paper I we performed a functional candidate gene association study of the GIMAP5 gene, which had been shown to be essential for the survival of leukocytes, and identified association between this gene and SLE in two independent family cohorts from Finland and the UK.In Paper II we performed a positional mapping study within our previously identified susceptibility loci on chromosomes 14q21-q23 and identified association to the novel SLE candidate gene MAMDC1 in four independent cohorts. This gene appears to encode for a novel member of the immunoglobulin cell adhesion molecules superfamily, which is involved in cell adhesion, migration, and recruitment to inflammatory sites.In Papers III-V we performed three different replication studies of previously identified SLE susceptibility in a Finnish case-control cohort and identified association to several genes, including STAT4, IRF5-TNPO3, TYK2, ITGAM-ITGAX, TNFAIP3, FAM167A-BLK, BANK1 and KIAA1542. We furthermore showed evidence ofgene-gene interaction (epistasis) between SNPs in IRF5 and TYK2.In conclusion we have identified two novel SLE candidate genes contributing to SLE susceptibility in several populations as well as shown that a number of previously identified SLE susceptibility genes also contribute to risk in the Finnish population.List of scientific papersI. Hellquist A, Zucchelli M, Kivinen K, Saarialho-Kere U, Koskenmies S, Widen E, Julkunen H, Wong A, Karjalainen-Lindsberg ML, Skoog T, Vendelin J, Cunninghame-Graham DS, Vyse TJ, Kere J, Lindgren CM (2007). The human GIMAP5 gene has a common polyadenylation polymorphism increasing risk to systemic lupus erythematosus. J Med Genet. 44(5): 314-21. https://doi.org/10.1136/jmg.2006.046185 000246177200004II. Hellquist A, Zucchelli M, Lindgren CM, Saarialho-Kere U, Järvinen TM, Koskenmies S, Julkunen H, Onkamo P, Skoog T et. al. (2009). Identification of MAMDC1 as a candidate susceptibility gene for systemic lupus erythematosus (SLE). PLoS ONE. [Accepted] https://doi.org/10.1371/journal.pone.0008037 III. Hellquist A, Järvinen TM, Koskenmies S, Zucchelli M, Orsmark-Pietras C, Berglind L, Panelius J, Hasan T, Julkunen H, DAmato M, Saarialho-Kere U, Kere J (2009). Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus. J Rheumatol. 36(8): 1631-8. https://doi.org/10.3899/jrheum.081160 IV. Hellquist A, Sandling JK, Zucchelli M, Koskenmies S, Julkunen H, DAmato M, Garnier S, Syvänen AC, Kere J (2009). Variation in STAT4 is associated with systemic lupus erythematosus (SLE) in a Finnish family cohort. https://doi.org/10.1136/ard.2009.112284 V. Hellquist A, Järvinen TM, Zucchelli M, Koskenmies S, Julkunen H, D Amato M, Saarialho-Kere U, Kere J (2009). Investigation of recently identified SLE genome-wideassociation genes reveals the strongest association to STAT4, IRF5 and ITGAM in the Finnish population. [Manuscript]</p
Cervical Lymph Node Metastasis in High-Grade Transformation of Head and Neck Adenoid Cystic Carcinoma: A Collective International Review
No full textHellquist, H., Skálová, A., Barnes, L., Cardesa, A., Thompson, L.D.R., Triantafyllou, A., Williams, M.D., Devaney, K.O., Gnepp, D.R., Bishop, J.A., Wenig, B.M., Suárez, C., Rodrigo, J.P., Coca-Pelaz, A., Strojan, P., Shah, J.P., Hamoir, M., Bradley, P.J., Silver, C.E., Slootweg, P.J., Vander Poorten, V., Teymoortash, A., Medina, J.E., Robbins, K.T., Pitman, K.T., Kowalski, L.P., de Bree, R., Mendenhall, W.M., Eloy, J.A., Takes, R.P., Rinaldo, A., Ferlito, A
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe 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
How Phenotype Guides Management of the Most Common Malignant Salivary Neoplasms of the Larynx?
No full textLópez, F., Williams, M.D., Skálová, A., Hellquist, H., Suárez, C., Nixon, I.J., Rodrigo, J.P., Cardesa, A., Strojan, P., Quer, M., Hunt, J.L., Rinaldo, A., Ferlito, A
Appropriate Similarity Measures for Author Cocitation Analysis
No full textWe 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
No full textWe 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
The construction of Karen Karnak: The multi-author-function
No full textThis thesis is situated within the comparatively recent developments of Web 2.0 and the emergence of interactive WikiMedia, and explores the mode of authorship within a Read/Write culture compared to that of a Read/Only tradition. The hypothesis of this study is that the role of the audience has become merged with the author, and as such, represents new functions and attributes, distinct from a more conventional concept of authorship, in which the roles of audience and author are more separate. Read/Write and participatory culture, as defined by this study, is focused on collaboration, and includes the influences of D.I.Y. culture, Open-Source practices and the production of text by multiple authors. Multi-authorship presents a re-thinking of several concepts which support the notion of the individual author, since the focus of multi-authorship is not on attribution and ownership of a finished text, but on the continued malleability of a text. Modes of multi-authorship, demonstrated in the use of the pseudonyms Alan Smithee and Karen Eliot, represent declarative authors whose names signify multiple origins, whilst concurrently indicating a distinct body of work. The function of these names form an important context to this study, since primary research involves the construction of an experimental mode of multi-authorship utilising WikiMedia technology and the interaction of thirty nine participants, who are invited to create a body of work under the collective pseudonym Karen Karnak. The data generated by this experiment is analysed using aspects of Michel Foucault's author-function to identify and determine power structures inherent in the WikiMedia context. The interplay of power structures, including concepts such as identity, ownership and the body of work, affect the resulting mode of authorship and contribute to the construction of Karen Karnak, suggesting further areas of research into the emerging multi-author
Contribution of Information and Communication Technology (ICT) in Country’S H-Index
No full textThe aim of this study is to examine the effect of Information and Communication Technology (ICT) development on country’s scientific ranking as measured by H-index. Moreover, this study applies ICT development sub-indices including ICT Use, ICT Access and ICT skill to find the distinct effect of these sub-indices on country’s H-index. To this purpose, required data for the panel of 14 Middle East countries over the period 1995 to 2009 is collected. Findings of the current study show that ICT development increases the H-index of the sample countries. The results also indicate that ICT Use and ICT Skill sub-indices positively contribute to higher H-index but the effect of ICT access on country’s H-index is not clear
Fully Turbulent Mean Velocity Profile for Purely Viscous non-Newtonian Fluids
No full textThe characteristic near wall behavior of turbulent flow of purely-viscous non-Newtonian fluids is discussed for both power-law (P.-L.) and Herschel-Bulkley (H.-B.) rheological models. A proper scaling is presented for H.-B. fluids to establish an analogy with power-law fluids with same flow index. To provide reference data for turbulent flow of non-Newtonian fluids, DNS simulations of power-law fluids are conducted in a rectangular channel for a large range of power-law indices ( = 0.5, 0.69, 0.75, 0.9, 1, 1.2). The DNS data show that the mean velocity profile in the viscous and logarithmic layers follow expressions of the form and respectively, where shows a logarithmic dependency on the flow index.Comparison with some experimental data shows the above formulation to be valid for Reynolds numbers (based on shear velocity) as high as 1000
H-index and research evaluation: A suggested set of components for developing a comprehensive author-level index
No full textThe H-index has been investigated in various studies; this index has many strengths that have made it popular. However, it also has weaknesses, due to which other indicators have been developed. This study aims to identify the strengths and weaknesses of the H-index and provide the minimum set of necessary components for developing a comprehensive author-level index. In this systematic literature review, Scopus, PubMed, Web of Science, Emerald, and ProQuest databases were searched to identify relevant studies. From the number of 14,253 retrieved studies, after two stages of screening, 81 studies were selected according to the eligibility criteria for data extraction. The findings of the study led to the identification of 15 strengths in the three categories of Quality Features, Simplicity, and Suitability, and 13 weaknesses in the six categories of Publications, Citations, Academic Age, Author Credit Allocation, Variety of Fields, and mathematical calculation for H-index. Finally, 28 components were identified as the minimum set of necessary components to develop a comprehensive author-level index to help evaluate researchers more realistically and fairly. The minimum components that need to be considered in developing a comprehensive author-level index can be proposed as follows: Quality Features, Simplicity, Suitability, Publications, Citations, Academic Age, Author Credit Allocation, Variety of Fields, and mathematical calculation
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