1,720,953 research outputs found
Influence of selected polymorphisms on the expression of breast cancer in Afrikaner BRCA2 carriers
No full textEnglish: The aim of the study was to elucidate the variation in phenotypic expression observed within BRCA2 c.8162delG mutation positive families. The study attempted to identify possible genetic factors that contribute to the residual risk conferred by the BRCA2 founder mutation. As BC is a polygenetic disorder, polymorphisms within various low penetrance genes may contribute to the expression of the disease. The selection of the SNPs were based on the results of the CIMBA consortium and have been proven to be associated with an increased BC risk in the general population (Easton et al., 2007) and in BRCA2 mutation carriers specifically (Antoniou et al., 2008). Two SNPs (rs2234693 [PvuII] and rs9340799 [XbaI]) present within ESR1 as well as SNPs present in TNRC9 (rs3803662), LSP1 (rs3817198), MAP3K1 (rs889312) and FGFR2 (rs2981582) identified by GWAS have been implicated in BC risk. These six polymorphisms have been selected to evaluate the risk within the Afrikaner BRCA2 8162delG (c.7934del, p.Arg2645AsnfsX3) mutation carriers specifically. Genotyping of rs2234693 (PvuII) and rs9340799 (XbaI) was done by PCR-RFLP analysis whereas Taqman® assays were used for genotyping rs3803662 (TNRC9), rs3817198 (LSP1), rs889312 (MAP3K1) and rs2981582 (FGFR2). Automated allelic discrimination using the BioRad CFX Manager v1.1.308.1111 software were compared to manual discrimination methods to ensure robust genotyping. Cohen’s kappa analysis suggested a combination of automated (Method 1) and manual (Method 3) genotyping was best suited for accurate allelic discrimination except for LSP1. Due to an putative SNP detected within LSP1, the validity of the LSP1 results should be treated cautiously as no information on the frequency of the second putative SNP in white European individuals is available. Of the six polymorphisms analyzed, only rs2234693 (PvuII), indicated a possible association with BC (P-value = 0.0896), which should be explored within a larger study group. For FGFR2, the HWE results indicated that the deviation observed in the BRCA2 mutation carrier group could possibly be associated with BC. Haplotypes compiled for rs2234693 (PvuII) and rs9340799 (XbaI) as well as the remaining four SNPs were uninformative as it revealed no differences between the BC patients and the Cases. These results may have been due to the high allelic heterogeneity observed within the Afrikaner population, as well as the small test group used.. Although the results of this study did not deliver significant results, it did provide insight into allelic distributions of the SNPs in the Afrikaner BRCA2 8162delG (c.7934del, p.Arg2645AsnfsX3) mutation carriers specifically. Larger scale genotyping could lead to more significant findings to help elucidate the polygenetic nature of BC with the Afrikaner.Afrikaans: Die doel van hierdie studie was om die variasie waargeneem in die fenotipiese uitdrukking onder BRCA2 k.8162delG mutasie positiewe families toe te lig. Die studie het gepoog om verskeie genetiese faktore wat moontlik kan bydra tot die gesamentlike risiko wat toegeken word deur die BRCA2 stigtersmutasie, te identifiseer. Aangesien borskanker ʼn poligeniese siekte is, kan polimorfismes binne verskeie lae-penetrasie gene tot die uitdrukking van die siekte bydra. Die seleksie van die polimorfismes was gebaseer op die resultate van die CIMBA konsortium wat bewys het dat diè polimorfismes met verhoogde borskanker risiko in die algemene populasie (Easton et al., 2007) sowel as in die BRCA2 stigtersmutasie draers spesifiek geassosieerd is (Antoniou et al., 2008). Twee polimorfismes (rs2234693 [PvuII] en rs9340799 [XbaI]) teenwoordig in ESR1 asook die polimorfismes teenwoordig in TNRC9 (rs3803662), LSP1 (rs3817198), MAP3K1 (rs889312) en FGFR2 (rs2981582) wat deur GWAS geidentifiseer is, word met ‘n verhoogde borskanker risiko geassosieer. Die ses polimorfismes is gekies om die addisionele risiko in die Afrikaner BRCA2 k. 8162delG (k.7934del, p.Arg2645AsnfsX3) mutasie draers spesifiek te ondersoek. Genotipering van rs2234693 (PvuII) en rs9340799 (XbaI) is uitgevoer met behulp van ensiem snydings (RFLP), terwyl Taqman® analises gebruik is om rs3803662 (TNRC9), rs3817198 (LSP1), rs889312 (MAP3K1) en rs2981582 (FGFR2) te genotipeer. Outomatiese alleliese diskriminasie gedoen deur die BioRad CFX Manager v1.1.308.1111 sagteware is vergelyk met semi- en nie-outomatiese diskriminasie metodes om sodoende robuuste genotipering te verseker. Cohen se kappa analises het die datastelle vergelyk en aangedui dat die metode van analise van Metode 1 en Metode 3 die meeste ooreenstem, met LSP1 as die uitsondering. Die teenwoordigheid van ‘n addisionele polimorfisme binne dieselfde gebied, impliseer dat die data ingewin vir LSP1 met versigtigheid geïnterpreteer moet word. Geen inligting rakende die frekwensie van hierdie polimorfisme was vir die Europese individue beskikbaar nie. Van die ses polimorfismes geanaliseer, het slegs rs2234693 (PvuII) ʼn moontlike assosiasie met borskanker getoon (P-waarde = 0.0896) wat in ‘n toekomstige groter studie verder ondersoek moet word. Die HWE resultate het aangedui dat die afwyking waargeneem vir FGFR2 in die BRCA2 mutasie draer groep, moontlike assosiasie met borskanker kan beteken. Saamgestelde haplotipes vir rs2234693 (PvuII) en rs9340799 (XbaI) asook die oorblywende vier polimorfismes was oninsiggewend omdat daar geen verkil tussen die borskanker pasiënte en gevalle opgemerk is nie. Die bevindinge kan moontlik die gevolg wees van die hoë alleliese variasie waargeneem in die Afrikaner populasie, sowel as die klein toetsgroep wat gebruik is. Alhoewel die bevindinge van die studie nie statisties betekenisvolle resultate opgelewer het nie, dui dit die alleliese verpreiding van die polimorfimses in die Afrikaner BRCA2 k.8162delG (k.7934del, p.Arg2645AsnfsX3) mutasie draers aan. Grootskaalse genotipering kan lei tot meer insiggewende bevindige.National Health Laboratory Services (NHLS
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
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
Author Under Sail The Imagination of Jack London, 1893-1902
No full textIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Intro -- Title Page -- Copyright Page -- Dedication -- Contents -- Acknowledgments -- Introduction -- 1. Spirit Truth -- 2. From Absorption to Theatricality and Back Again -- 3. "I Will Build a New Present" -- 4. Sons as Authors -- 5. Fathers as Publishers -- 6. The Daughter as Author -- 7. Lovers as Authors -- 8. At Sea with the Family -- 9. Yellow News, Yellow Stories -- 10. The Return Home -- Notes -- Bibliography -- Index -- About Jay WilliamsIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Description based on publisher supplied metadata and other sources.Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, YYYY. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries
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