1,720,969 research outputs found
Identification of new genes of recessive ataxias: involvment of mitochondira and new pathophysiological pathways
No full textNous avons analysé un ensemble de 97 familles consanguines par puces de génotypage 10K ou 50K. Nous avons ainsi pu identifier 10 mutations dans 4 gènes déjà connus d'ataxie (sacsin, aprataxin, senataxin, ATM). Grâce à notre stratégie de cartographie par homozygotie, nous avons pu identifier quatre nouveaux gènes responsables d'ataxies autosomiques récessives. Nous avons identifié des mutations dans le gène ADCK3 codant pour une kinase atypique mitochondriale impliquée dans la synthèse du coenzyme Q10. Ces mutations sont responsables d'une ataxie cérébelleuse précoce et associée à un déficit en coenzyme Q10. Nous avons identifié des mutations dans le gène ABHD12 responsables du syndrome PHARC ( pour Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataract). Le gène ABHD12 code pour une α/β hydrolase impliquée dans l'hydrolyse de l'acide 2-arachidonique-glycérol, un endocannabinoïde majeur du SNC. Une collaboration avec S.Vermeer et collègues (Nimègue) a permis d'identifier des mutations dans le gène ANO10 dans une nouvelle forme d'ataxie avec atrophie cérébelleuse sévère. ANO10 est un membre de la famille des anoctamines et code pour un canal chlore activé par le calcium. Finalement, nous avons identifié la mutation causale ches les 3 patientes d'une grande famille originaire d'Arabie Saoudite consanguine. La mutation, une délétion homozygote (2927delC) au niveau du gène KIAAO226, entraîne un décalage du cadre de lecture. KIAAO226 code pour une nouvelle protéine nommée Rubicon. Rubicon (rundataxine) colocalise avec Rab7 au niveau des endosomes précoces. La rundataxine mutante exprimée dans les cellules Hela présente une localisation cytosolique diffuse.Patients from 97 families were analyzed with GeneChip Mapping 10K 50K SNP Affymetrix microarrays. We identified 10 mutations in 4 known ataxia genes (sacsin. Aprataxin, senataxin, ATM). Our homozygosity mapping strategy allowed us also to identify 4 new genes responsible of new forms of reçessive ataxias. We have identified mutations in the ADCK3 gene coding for a mitochondrial atypical kinase involved in CoQ10 biosynthesis. ADCK3 mutations are responsible for an early onset cerebellar ataxia associated with coenzyme Ql0 deficiency. We have also identified mutations in the ABHD12 responsible for PHARC (Polyneuropathy, hearing loss, ataxia, retinitis pigmenltosa, and cataract). The ABfHD12 gene encodes an α/β hydrolase recently shown to hydrolyze 2-arachidonoyl glycerol (2-AG), one of the 2 main endocannabinoid neurotransmitters. The collaboration \\ith S.Vermeer and colleagues (Nijmegen) permited to identify mutations in the gene ANO10 involved in a new form of cerebellar ataxia with severe cerebellar atrophy. ANO10 is a member of the human Ianoctamins (ANO) family. ANO10 encodes a calcium-activated chloride channel. Finally, with the same approach. we identified the causative gene in three children affected with childhood onset ataxia in a large consanguineous Saudi Arabian famiy. The mutation, a single nucleotide deletion, 2927delC in the KIAA0226 gene, results in a frame-sbift and in the usage of a novel 145 amino-acid reading frame which is longer than the normal C-terminal sequence. The K1AA0226 gene encodes a protein, we named rundataxin (Rubicon) which colocalizes with Rab7 on the late endosomes. The mutation leads to a diffuse cytoplasmic distribution of rundataxin
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
Identification de nouveaux gènes d ataxies récessives (Implication de la mitochondrie et de nouvelles voies physiopathologiques)
No full textNous avons analysé un ensemble de 97 familles consanguines par puces de génotypage 10K ou 50K. Nous avons ainsi pu identifier 10 mutations dans 4 gènes déjà connus d'ataxie (sacsin, aprataxin, senataxin, ATM). Grâce à notre stratégie de cartographie par homozygotie, nous avons pu identifier quatre nouveaux gènes responsables d'ataxies autosomiques récessives. Nous avons identifié des mutations dans le gène ADCK3 codant pour une kinase atypique mitochondriale impliquée dans la synthèse du coenzyme Q10. Ces mutations sont responsables d'une ataxie cérébelleuse précoce et associée à un déficit en coenzyme Q10. Nous avons identifié des mutations dans le gène ABHD12 responsables du syndrome PHARC ( pour Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataract). Le gène ABHD12 code pour une a/b hydrolase impliquée dans l'hydrolyse de l'acide 2-arachidonique-glycérol, un endocannabinoïde majeur du SNC. Une collaboration avec S.Vermeer et collègues (Nimègue) a permis d'identifier des mutations dans le gène ANO10 dans une nouvelle forme d'ataxie avec atrophie cérébelleuse sévère. ANO10 est un membre de la famille des anoctamines et code pour un canal chlore activé par le calcium. Finalement, nous avons identifié la mutation causale ches les 3 patientes d'une grande famille originaire d'Arabie Saoudite consanguine. La mutation, une délétion homozygote (2927delC) au niveau du gène KIAAO226, entraîne un décalage du cadre de lecture. KIAAO226 code pour une nouvelle protéine nommée Rubicon. Rubicon (rundataxine) colocalise avec Rab7 au niveau des endosomes précoces. La rundataxine mutante exprimée dans les cellules Hela présente une localisation cytosolique diffuse.Patients from 97 families were analyzed with GeneChip Mapping 10K 50K SNP Affymetrix microarrays. We identified 10 mutations in 4 known ataxia genes (sacsin. Aprataxin, senataxin, ATM). Our homozygosity mapping strategy allowed us also to identify 4 new genes responsible of new forms of reçessive ataxias. We have identified mutations in the ADCK3 gene coding for a mitochondrial atypical kinase involved in CoQ10 biosynthesis. ADCK3 mutations are responsible for an early onset cerebellar ataxia associated with coenzyme Ql0 deficiency. We have also identified mutations in the ABHD12 responsible for PHARC (Polyneuropathy, hearing loss, ataxia, retinitis pigmenltosa, and cataract). The ABfHD12 gene encodes an a/b hydrolase recently shown to hydrolyze 2-arachidonoyl glycerol (2-AG), one of the 2 main endocannabinoid neurotransmitters. The collaboration \\ith S.Vermeer and colleagues (Nijmegen) permited to identify mutations in the gene ANO10 involved in a new form of cerebellar ataxia with severe cerebellar atrophy. ANO10 is a member of the human Ianoctamins (ANO) family. ANO10 encodes a calcium-activated chloride channel. Finally, with the same approach. we identified the causative gene in three children affected with childhood onset ataxia in a large consanguineous Saudi Arabian famiy. The mutation, a single nucleotide deletion, 2927delC in the KIAA0226 gene, results in a frame-sbift and in the usage of a novel 145 amino-acid reading frame which is longer than the normal C-terminal sequence. The K1AA0226 gene encodes a protein, we named rundataxin (Rubicon) which colocalizes with Rab7 on the late endosomes. The mutation leads to a diffuse cytoplasmic distribution of rundataxin.STRASBOURG-Sc. et Techniques (674822102) / SudocSudocFranceF
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
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