1,720,994 research outputs found
Mécanismes physiopathologiques impliqués dans la différenciation du tractus génital masculin
No full textBackground. Hypospadias is the most common malformation affecting the male genitalia. Although the causes remain often unknown, endocrine, vascular and environmental factors have been implicated. However, the genetic basis is probably underestimated. Objectives. To study the genetic factors implicated in sexual differentiation. Methods. A cohort of 284 children born with hypospadias has been established since 2011. DNA was extracted from blood lymphocytes and fibroblasts obtained after a foreskin biopsy. Sanger sequencing of AR, MAMLD1 and NR5A1, SNP-array analysis, and Whole Exome Sequencing (WES) were performed. A second cohort of 1,311 pregnant women was established to evaluate an association between maternal fhCGb and hypospadias. Results. No mutation in AR and MAMLD1 was found. Non-described variations of AR, MAMLD1 and NR5A1 were identified without any splicing activity. Some polymorphisms in AR gene had a MAF significantly higher (p<0.01). A heterozygous intragenic duplication of NR5A1 was found. Pangenomic analysis included 35 anomalies (15.7%) that could be a potential cause of isolated, distal, non-hereditary hypospadias encompassing 25 candidate genes. 22 variants was classified as pathogenic on WES. Finally, a significant difference of fhCGb for severe types was identified even after adjustment for placenta dysfunction (p<0.03). Conclusion. Our hypothesis about “somatic” mutations in 3 candidate genes was not ascertained. However, pangenomic analysis found 15.7% anomalies which could be likely linked to hypospadias. The use of WES could be an attractive method for exploring further these results as we identified 22 variants in 30 cases of familial hypospadias.Introduction. L’étiopathogénie de l’hypospadias reste largement discutée, faisant intervenir des facteurs endocriniens, génétiques, vasculaires et environnementaux. Objectifs. Étudier les mécanismes génétiques impliquées dans la différenciation sexuelle masculine. Matériels et méthodes. Une cohorte de 284 patients a été établie depuis 2011 pour séquençage de l’ADN lymphocytaire, préputial et urothélial de trois gènes candidats (NR5A1, MAMLD1, AR). Une analyse pangénomique (puce à ADN et Whole Exome Sequencing (WES)) a été réalisée. Le registre REMAPAR a été utilisé pour analyser l’association entre hormone chorionique gonadotrophique (hCGb) maternelle et hypospadias. Résultats. Des polymorphismes dans AR ont une fréquence allélique significativement plus élevée (p<0,01). Des variations non décrites des trois gènes ne semblent pas susceptibles d’altérer l’épissage. Une duplication hétérozygote intragénique de NR5A1 a été retrouvée chez un individu. Par ailleurs, 35 anomalies (15,7%) pouvant être en lien avec l’hypospadias ont été identifiées par puces à ADN englobant 25 gènes candidats. L’analyse WES a mise en évidence 22 nouveaux variants. Enfin, une association a été constatée pour l’hCGb surtout en cas de forme sévère et après ajustement pour dysfonction placentaire (p<0,03). Conclusion. L’étude des trois gènes candidats n’a pas vérifié l’hypothèse selon laquelle les séquences lymphocytaires et sur les tissus cibles seraient différentes. Cependant, l’analyse pangénomique a trouvé 15,7% anomalies et 47 gènes potentiellement candidats. L’utilisation des nouveaux outils d’analyse génétique semble essentielle à la compréhension des mécanismes conduisant à l’hypospadias
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
Genetic Pathways Implicated in Male Genitalia Differentiation
No full textIntroduction. L’étiopathogénie de l’hypospadias reste largement discutée, faisant intervenir des facteurs endocriniens, génétiques, vasculaires et environnementaux. Objectifs. Étudier les mécanismes génétiques impliquées dans la différenciation sexuelle masculine. Matériels et méthodes. Une cohorte de 284 patients a été établie depuis 2011 pour séquençage de l’ADN lymphocytaire, préputial et urothélial de trois gènes candidats (NR5A1, MAMLD1, AR). Une analyse pangénomique (puce à ADN et Whole Exome Sequencing (WES)) a été réalisée. Le registre REMAPAR a été utilisé pour analyser l’association entre hormone chorionique gonadotrophique (hCGb) maternelle et hypospadias. Résultats. Des polymorphismes dans AR ont une fréquence allélique significativement plus élevée (p<0,01). Des variations non décrites des trois gènes ne semblent pas susceptibles d’altérer l’épissage. Une duplication hétérozygote intragénique de NR5A1 a été retrouvée chez un individu. Par ailleurs, 35 anomalies (15,7%) pouvant être en lien avec l’hypospadias ont été identifiées par puces à ADN englobant 25 gènes candidats. L’analyse WES a mise en évidence 22 nouveaux variants. Enfin, une association a été constatée pour l’hCGb surtout en cas de forme sévère et après ajustement pour dysfonction placentaire (p<0,03). Conclusion. L’étude des trois gènes candidats n’a pas vérifié l’hypothèse selon laquelle les séquences lymphocytaires et sur les tissus cibles seraient différentes. Cependant, l’analyse pangénomique a trouvé 15,7% anomalies et 47 gènes potentiellement candidats. L’utilisation des nouveaux outils d’analyse génétique semble essentielle à la compréhension des mécanismes conduisant à l’hypospadias.Background. Hypospadias is the most common malformation affecting the male genitalia. Although the causes remain often unknown, endocrine, vascular and environmental factors have been implicated. However, the genetic basis is probably underestimated. Objectives. To study the genetic factors implicated in sexual differentiation. Methods. A cohort of 284 children born with hypospadias has been established since 2011. DNA was extracted from blood lymphocytes and fibroblasts obtained after a foreskin biopsy. Sanger sequencing of AR, MAMLD1 and NR5A1, SNP-array analysis, and Whole Exome Sequencing (WES) were performed. A second cohort of 1,311 pregnant women was established to evaluate an association between maternal fhCGb and hypospadias. Results. No mutation in AR and MAMLD1 was found. Non-described variations of AR, MAMLD1 and NR5A1 were identified without any splicing activity. Some polymorphisms in AR gene had a MAF significantly higher (p<0.01). A heterozygous intragenic duplication of NR5A1 was found. Pangenomic analysis included 35 anomalies (15.7%) that could be a potential cause of isolated, distal, non-hereditary hypospadias encompassing 25 candidate genes. 22 variants was classified as pathogenic on WES. Finally, a significant difference of fhCGb for severe types was identified even after adjustment for placenta dysfunction (p<0.03). Conclusion. Our hypothesis about “somatic” mutations in 3 candidate genes was not ascertained. However, pangenomic analysis found 15.7% anomalies which could be likely linked to hypospadias. The use of WES could be an attractive method for exploring further these results as we identified 22 variants in 30 cases of familial hypospadias
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
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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