1,721,306 research outputs found
The molecular pathogenesis of myeloproliferative neoplasms
No full textMyeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological stem cellmalignancies characterised by proliferation of one or more cells of the myeloid lineage. The molecularinvestigation of MPN was revolutionized in 2005 by the finding that approximately 95% of cases withpolycythaemia vera (PV) and 50-60% of cases of essential thrombocythaemia (ET) and primarymyelofibrosis (PMF) are characterised by a single acquired mutation, JAK2 V617F. My study hasfocused on four principal areas:(i) Involvement of V617F in other myeloid disorders. After developing sensitive methods todetect and quantify V617F, this mutation was identified in 17% of cases of atypical chronic myeloidleukaemia (17/99) as well as other atypical MPN, thus demonstrating that it was more widelyinvolved in myeloid disorders that initially thought. Homozygosity of V617F was shown to have arisenby acquired uniparental disomy (UPD) and examination of two cases with V617F plus either KITD816V or BCR-ABL demonstrated that the mutations had arisen in independent clones.(ii) In vitro assays to predict imatinib sensitivity. Haemopoietic colony and liquid cultures wereused to determine if peripheral blood or bone marrow cells from atypical MPN cases (n=200) weresensitive to imatinib. Of those that responded in one or both cultures (n=185) some had knownabnormalities of PDGFRA or PDGFRB, but a significant minority proved negative for all molecular testssuggesting the presence of uncharacterised imatinib-sensitive mutations.(iii) V617F as a marker of response to therapy. JAK2 V617F was used as a molecular marker tomonitor the response of PV patients (n=21) to therapy with imatinib and interferon-?. Neithertherapy eradicated V617F but there was a modest reduction in %V617F which correlated withhaematological response. By contrast, in those patients that did not respond (n=13) the %V617Fmarginally increased.(iv) Genetic predisposition to MPN. Whilst investigating the possible contribution of JAK2 singlenucleotide polymorphisms to the phenotypic diversity associated with V617F, marked skewing ofalleles associated with the mutation was observed. Further investigation revealed that V617Fassociateddisease is strongly associated with a specific constitutional JAK2 haplotype, designated46/1, in all three disease entities compared to healthy controls (PV, n=192, P=2.9x10-16; ET, n=78,P=8.2x10-9 and MF, n=41, P=8.0x10-5). Furthermore, allele-specific PCR demonstrated that V617Fspecifically arises on the 46/1 allele in most cases. The 46/1 JAK2 haplotype thus predisposes to thedevelopment of V617F associated MPNs (OR=3.7; 95% CI 3.1-4.3) and provides a model whereby aconstitutional genetic factor is associated with an increased risk of acquiring a specific somaticmutation
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
Fig. 2. Boat tracklines followed between 5 October 2017 and 6 September 2018 in On the Distribution, Behaviour and Seasonal Variation of Irrawaddy Dolphins (Orcaella brevirostris) in the Kep Archipelago, Cambodia
No full textFig. 2. Boat tracklines followed between 5 October 2017 and 6 September 2018.Published as part of Tubbs, Sarah E., Keen, Emma, Jones, Amy L. & Thap, Rachana, 2020, On the Distribution, Behaviour and Seasonal Variation of Irrawaddy Dolphins (Orcaella brevirostris) in the Kep Archipelago, Cambodia, pp. 137-149 in Raffles Bulletin of Zoology 68 on page 139, DOI: 10.26107/RBZ-2020-0015, http://zenodo.org/record/457660
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
A common constitutional JAK2 haplotype predisposes to Myeloprolifrative Neoplasms
No full textMeeting Abstract: 0555<br/
No association between myeloproliferative neoplasms and the Crohn’s disease associated STAT3 predisposition SNP rs744166
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