1,720,991 research outputs found
Molecular bases of Zimmermann-Laband syndrome
Full text linkZimmermann-Laband syndrome (ZLS; MIM135500) is a rare developmental disorder
characterized by facial dysmorphism, including coarsening of the face, bulbous soft nose, gingival
enlargement, nail aplasia or hypoplasia, hypertrichosis, and intellectual disability, with or without
epilepsy. To date, about 40 patients have been described with features fitting ZLS.
With the aim of identifying ZLS causative gene/s a WES approach on three ZLS patients
was performed and allowed us to identify two disease genes, KCNH1 and ATP6V1B2 (Kortum et
al., 2015). An enlargement of the cohort was performed through the recruitment of further five
patients, that were analyzed by WES or Sanger sequencing, disclosing the presence of additional
mutations in KCNH1 and ATP6V1B2 genes (Kortum et al., 2015), and highlighting the role of
potassium channels and vacuolar ATPase in the pathogenesis of this disease.
KCNH1 gene encodes a member of the potassium channel, voltage-gated, subfamily H
protein. Patch-clamp recordings on KCNH1 mutants identified in this work showed strong negative
shifts in voltage-dependent activation, supporting a possible gain-of-function effect for all ZLSassociated
KCNH1 mutants.
ATP6V1B2 gene encodes the B2 subunit of the multimeric vacuolar H+ ATPase. Structural
analysis predicts a perturbing effect of the mutation on complex assembly.
Sanger sequencing screening of the coding sequence of the KCNH1 and ATP6V1B2 genes in
four patients with clinical features within the ZLS clinical spectrum, disclosed the presence of
mutation-negative patients, pointing to genetic heterogeneity for ZLS. To identify the “missing”
ZLS disease genes, a WES approach on two KCNH1 and ATP6V1B2 mutation-negative subjects
was performed, disclosing the presence of a novel likely pathogenic de novo variant in ATP6V1C1,
encoding an interactor of ATP6V1B2.
Common clinical features of patients mutated in KCNH1, ATP6V1B2 and ATP6V1C1 genes
include craniofacial dysmorphism, gingival enlargement, mild to severe intellectual disability, and
aplastic or hypoplastic nails and terminal phalanges, although with remarkable variability. Epilepsy
is present only in KCNH1 mutated patients.
A recruitment of additional ZLS and ZLS-related patients is ongoing; these subjects will be
screened for mutations in previously and newly identified disease genes in order to provide a more
accurate picture of the molecular spectrum of mutations and their associated clinical spectrum.
Structural and functional studies are ongoing to characterize the effect of the ATP6V1B2
and ATP6V1C1 mutants on the proper assembly/activity of the ATPase complex
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
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
Genetic Determinants of the Effects of Training on Muscle and Adipose Tissue Homeostasis in Obesity Associated with Lymphedema
No full textIt is widely accepted that metabolic changes associated with training are influenced by a person's genetic background. In this review, we explore the polymorphisms underlying interindividual variability in response to training of weight loss and muscle mass increase in obese individuals, with or without lymphedema, and in normal-weight subjects. We searched PubMed for articles in English published up to May 2019 using the following keywords: (((physical training[Title/Abstract] OR sport activity[Title/Abstract]) AND predisposition[Title/Abstract]) AND polymorphism [Title/Abstract]). We identified 38 single-nucleotide polymorphisms that may modulate the genetic adaptive response to training. The identification of genetic marker(s) that improve the beneficial effects of training may in perspective make it possible to assess training programs, which in combination with dietary intervention can optimize body weight reduction in obese subjects, with or without lymphedema. This is particularly important for patients with lymphedema because obesity can worsen the clinical status, and therefore, a personalized approach that could reduce obesity would be fundamental in the clinical management of lymphedema
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