1,721,034 research outputs found
Epigenetica, diagnostica e terapia della fibrosi cistica
No full textEpigenetica, diagnostica e terapia della fibrosi cistic
The friendly use of chloroquine in the COVID-19 disease: A warning for the G6PD-deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene
No full textEditorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens)
No full textPatient-derived cell models for personalized medicine approaches in cystic fibrosis
No full text: Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel that perturb anion transport across the epithelia of the airways and other organs. To treat cystic fibrosis, strategies that target mutant CFTR have been developed such as correctors that rescue folding and enhance transfer of CFTR to the apical membrane, and potentiators that increase CFTR channel activity. While there has been tremendous progress in development and approval of CFTR therapeutics for the most common (F508del) and several other CFTR mutations, around 10-20% of people with cystic fibrosis have rare mutations that are still without an effective treatment. In the current decade, there was an impressive evolution of patient-derived cell models for precision medicine. In cystic fibrosis, these models have played a crucial role in characterizing the molecular defects in CFTR mutants and identifying compounds that target these defects. Cells from nasal, bronchial, and rectal epithelia are most suitable to evaluate treatments that target CFTR. In vitro assays using cultures grown at an air-liquid interface or as organoids and spheroids allow the diagnosis of the CFTR defect and assessment of potential treatment strategies. An overview of currently established cell culture models and assays for personalized medicine approaches in cystic fibrosis will be provided in this review. These models allow theratyping of rare CFTR mutations with available modulator compounds to predict clinical efficacy. Besides evaluation of individual personalized responses to CFTR therapeutics, patient-derived culture models are valuable for testing responses to developmental treatments such as novel RNA- and DNA-based therapies
MicroRNA come target terapeutici per il trattamento della fibrosi cistica
No full textLa Fibrosi Cistica (CF) è una malattia autosomica recessiva che si manifesta con un’incidenza di circa 1/3000 nati. E’ causata da mutazioni del gene codificante la proteina CFTR che causano la scomparsa o la riduzione dell’attività di canale del cloruro. E’ stato recentemente dimostrato il coinvolgimento di alcuni microRNA complementari al 3’UTR (UnTranslated Region) del trascritto del gene CFTR nella riduzione dell’espressione della proteina, causando la malattia o l’aggravarsi del suo fenotipo. I microRNA, inoltre, sembrano essere responsabili del mantenimento di bassi livelli di CFTR negli adulti. Pertanto, l’obiettivo principale del nostro lavoro è stato quello di utilizzare specifiche molecole, denominate miRNA Target Site Blocker (TSB), per impedire il legame dei microRNA al 3’UTR di CFTR, al fine di produrre più proteina ed aumentare, di conseguenza, il flusso netto di ioni cloruro attraverso la membrana plasmatica. Tale meccanismo potrebbe dunque rappresentare un nuovo approccio terapeutico per pazienti CF che, conservando un’attività minima residua del canale, possono ricevere un beneficio clinico dall’aumento netto del flusso di ioni cloruro
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
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