1,721,002 research outputs found
Mutations in the coding region of the FOXL2 gene are not a major cause of idiopathic premature ovarian failure
No full textPremature ovarian failure (POF) is a heterogeneous disorder whose aetiology is
still unknown. Recently, the autosomal FOXL2 gene, highly expressed in the adult
ovary, has been correlated with the disorder. FOXL2 mutations, causing a
truncation of the FOXL2 protein in the forkhead domain or in the poly-Ala tract
lead to blepharophimosis-ptosis-epicanthus-inversus syndrome associated with POF
(BPES I). Interestingly, in two out of 70 idiopathic POF patients, a 30 bp
deletion (898-927del) and a missense mutation (1009T-->A) were identified. To
further evaluate the correlation between POF and FOXL2 mutations, 120
phenotypically normal women affected by POF were analysed by direct sequencing
of the FOXL2 coding region. The analysis did not reveal any mutation in the 240
analysed chromosomes, indicating that mutations in the FOXL2 coding region are
rarely associated with non-syndromic PO
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
Mapping the function of polycomb proteins
No full textPolycomb group (PcG) proteins are master regulators of proliferation and development that play essential roles in human pathologies including cancers. PcGs act as gatekeepers of cellular identity, maintaining repression of a multitude of target genes. However, these properties have only been recently uncovered thanks to technological advances, first of all chromatin immunoprecipitations (ChIP), that allowed a systematic characterization of the activity of these factors in an unbiased manner at a genome-wide level. Using PcG protein as example, this chapter introduces the readers to the use of chromatin analysis (ChIP assays and replication timing) and how to move these approaches to a level of genome-wide interpretation
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
No full textBACKGROUND: Studies attempting to precisely define the range of fragile mental
retardation 1 (FMR1) expansions and its inf luence in premature ovarian failure
(POF) manifestation are partially lacking. To this aim, we evaluated a large
cohort of POF patients for the size and, in selected cases, for the sequence of
the CGG expansion. Furthermore, the correlation between POF and X-inactivation
was investigated in FRAXA families. METHODS: By fluorescent PCR, 190 POF and 200
control women were sized for the CGG tract; some subjects were also
characterized by sequencing and for the FMR1 activation ratio. RESULTS AND
CONCLUSION: We found a significant association (19/190, 10%, P < 1 x 10(-6))
between POF and FMR1 premutation (range 63-163 repeats) and a significant
enrichment (9/190, 4.7%, P = 0.021) of POF carriers of intermediate expansions
(range 41-58 repeats). Interestingly, intermediate alleles were entirely
composed of CGG repeats. Furthermore, the analysis of three pairs of siblings
with similar FMR1 expansions and discordant for the POF phenotype showed a
direct correlation between the expression of the intermediate/premutated allele
and POF manifestation. The results obtained strengthen the correlation between
FMR1 expansion and POF and suggest that the manifestation of the ovarian
dysfunction could be influenced both by the pattern of interruption of the CGG
repeat and by X-inactivation
Molecular characterization of premature ovarian failure associated with FMR1 premutation
No full text
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
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