99 research outputs found
M. Piane, C. Savio, A. Altigeri, R. Pusateri, F.Ferrari, N. Pasquale, M.T. Contestabile, L. Chessa
No full textLa coroideremia (CHM; MIM 303100) è una malattia a trasmissione X-linked recessiva, caratterizzata da
degenerazione progressiva della coroide, dell’epitelio retinico pigmentato e della retina nervosa.
Generalmente i maschi affetti sviluppano durante l'adolescenza cecità notturna seguita da progressiva
perdita della visione periferica nella seconda e terza decade di vita e restringimento progressivo del campo
visivo, che può portare negli anni a cecità totale. Le femmine portatrici generalmente presentano alterazioni
pigmentarie circoscritte a livello della periferia retinica, ma non danno visivo evidente . Il gene mutato in
questa patologia è CHM, localizzato in Xq21.2 e costituito da 15 esoni; codifica per REP-1 (Rab escort protein
1), una delle proteine coinvolte nelle modificazioni post-traduzionali delle proteine Rab, che regolano il
traffico intracellulare tra i vari compartimenti vescicolari della cellula. Le mutazioni finora descritte causano
l’assenza o la perdita di funzione di REP-1. Abbiamo identificato in unpaziente italiano con coroideremia una
nuova mutazione del gene
CHM, c.819+2T>A, che determina l’eliminazione dell’esone 6 durante il processo di maturazione dell’RNA
messaggero,. L’analisi di segregazione della mutazione nella famiglia ha permesso di identificare lo stato di
portatrice della madre e della sorella e di confermare il sospetto diagnostico di coroideremia in altri tre
familiari
Hydrodynamics and morphodynamics in the swash zone: hydralab III large-scale experiments
No full textThe modelling of swash zone hydrodynamics and sediment transport and the resulting morphodynamics has been an area of very active research over the last decade. However, many details are still to be understood, whose knowledge will be greatly advanced by the collection of high quality data under controlled large-scale laboratory conditions. The advantage of using a large wave flume is that scale effects that affected previous laboratory experiments are minimized.
In this work new large-scale laboratory data from two sets of experiments are presented. Physical model tests were performed in the large-scale wave flumes at the Grosser Wellen Kanal (GWK) in Hannover and at the Catalonia University of Technology (UPC) in Barcelona, within the Hydralab III program.
The tests carried out at the GWK aimed at improving the knowledge of the hydrodynamic and morphodynamic behaviour of a beach containing a buried drainage system. Experiments were undertaken using a set of multiple drains, up to three working simultaneously, located within the beach and at variable distances from the shoreline. The experimental program was organized in series of tests with variable wave energy. While a positive effect was observed under low energy conditions, for medium and high energy conditions the benefit of having the drains operative was not always clear. In any case, it was evident that any positive effect of the drains on the beachface was confined by the position of the cone of depression in the aquifer’s surface.
The tests carried out in the large wave flume at UPC had the intent to investigate swash zone under storm conditions. The main aim was to compare beach profile response for monochromatic waves, monochromatic waves plus free long waves, bichromatic waves and random waves. Both erosive and accretive conditions were considered. The experiments suggest that the inclusion of long wave and wave group sediment transport is important for improved nearshore morphological modelling of cross-shore beach profile evolution, and provide a very comprehensive and controlled series of tests for evaluating numerical models. It is suggested that the large change in the beach response between monochromatic conditions and wave group conditions is a result of the increased significant and maximum wave heights in the wave groups, as much as the presence of the forced and free long waves induced by the groupiness. The equilibrium state model concept can provide a heuristic explanation of the influence of the wave groups on the bulk beach profile response if their effective relative fall velocity is larger than that of monochromatic waves with the same incident energy flux
Data from computational analysis of the peptide linkers in the mocr bacterial transcriptional regulators
No full textAbstract Detailed data from statistical analyses of the structural properties of the inter-domain linker peptides of the bacterial regulators of the family MocR are herein reported. MocR regulators are a recently discovered subfamily of bacterial regulators possessing an N-terminal domain, 60 residue long on average, folded as the winged-helix-turn-helix architecture responsible for DNA recognition and binding, and a large C-terminal domain (350 residue on average) that belongs to the fold type-I pyridoxal 5′-phosphate (PLP) dependent enzymes such aspartate aminotransferase. Data show the distribution of several structural characteristics of the linkers taken from bacterial species from five different phyla, namely Actinobacteria, Alpha-, Beta-, Gammaproteobacteria and Firmicutes. Interpretation and discussion of reported data refer to the article “Structural properties of the linkers connecting the N- and C- terminal domains in the MocR bacterial transcriptional regulators” (T. Milano, S. Angelaccio, A. Tramonti, M. L. Di Salvo, R. Contestabile, S. Pascarella, 2016) [1]
Test Reference Year for wave energy studies: Generation and validation
No full textIn a perspective of impoverishment of the fossil fuel and preservation of the natural environment, the sea wave energy is being increasingly regarded as alternative and promising resource. A key aspect to take in consideration for the deployment of Wave Energy Converters is the local characterization of the wave climate. In this contribute, a methodology for the calculation and validation of a site-specific Test Reference Year (TRY), from a multiyear dataset such ERA-Interim and ERA-5, to be used in wave energy conversion studies is proposed. Comparison of the two datasets with observed data gives ERA-5 as the best dataset.The methodology applied for the TRY generation has proven to be very effective, with the daily sum of H-s and T-m being the most effective indices for the TRY generation and in general T-m about twice more important than T-m. Once obtained, the TRY is applied in order to force an implementation of the Simulating WAves Nearshore (SWAN) model in an area of the central Adriatic Sea to characterize the area
InP Photonic Integrated Comb Generator made by a Cascade of Optical Modulators
No full textWe report the first InP photonic integrated comb generator made by cascading a DBR laser, one Mach-Zehnder intensity modulator and two phase modulators. The photonic circuit also includes a booster SOA at the output
Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders
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