1,721,106 research outputs found
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
No full textFedele AO, Filocamo M, Di Rocco M, et al. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Human Mutation. 2007;28(5):523
Glucocerebrosidase deficiency in zebrafish leads to primary osteogenic defects.
No full textOstopenia and other skeletal complications have a considerable influence on the morbidity of patients affected by Gaucher disease (GD). Despite the development of novel therapeutic approaches, bone response to current enzymatic replacement is slow and bone manifestations may worsen or persist in affected patients. The pathogenetic mechanisms responsible for bone alterations are currently unknown. Aim: This study was aimed to analyze bone defects occurring in a fish model with a morpholino-induced glucocerebrosidase (GBA) deficiency. Moreover, key molecular pathways affected by GBA loss of function were investigated. Methods: We used a set of transgenic biosensor fish to identify the involvement of targeted cell signaling pathways as a consequence of GBA deficiency. Confocal live imaging on cartilage and bone specific trangenics and transcriptomic analysis were additionaly used to perform a detailed spatiotemporal characterization of key molecular genes affected by GBA loss of function. Results. Our study suggests that well-defined osteogenic defects occur during early life stages in fish larvae lacking correct glucocerebrosidase functional activity. Moreover, when testing a set of biosensor reporter fish, we found a specific impairment of signaling pathways, which are good candidates in bone formation. Discussion. An early onset of cell signaling alterations detected in our fish model supports a view that GBA loss of function leads to premature primary bone defects , which significantly compromise bone remodeling in later stages. This study emphasizes the use of an early therapeutic intervention in GD affected children and suggests potential novel key targets for therapy of the skeletal disorders in GD
Green bond issuance and value creation for stockholders: evidence from Italy
No full textThis paper investigates the value creation for the stockholders through the analysis of the stock Italian market reaction when green bonds are issued in the market. Announcement data for issued green bonds have been hand-collected and the empirical analysis has been conducted with the aim of evaluating the difference in stock returns between green bond issuers and not issuers. Stocks have first been filtered for the market returns by capital asset pricing model (CAPM). Then, a nearest neighbours’ approach has been used for matching purposes. Results show that the issuance of green bonds did not affect significantly the remuneration required by stockholders. Our research is directed to academics, practitioners and companies
Rare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I
No full textIdentification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
No full textRare compound heterozygosity for IVS2+1G>A and R170P in an Italian patient with Gaucher disease type I
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Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I
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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
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