Search results for "mutation."
showing 10 items of 2808 documents
Naro. Architetture nei luoghi del dissesto
2013
The reserch has been carried out in the degree laboratory in architectural design by professor G.F. Tuzzolino at the Faculty of Architecture of Palermo. It intends to study the relationship between place and artifice in the historical, landscape, and architectural point of view Naro is a very important city that today appears seriously compromised by incoherent mutations and where you can see the serious problems of hidrogeological disorder.
CubeHarmonic: A new musical instrument based on Rubik{'}s cube with embedded motion sensor
2019
A contemporary challenge involves scientific education and the connection between new technologies and the heritage of the past. CubeHarmonic (CH) joins novelty and tradition, creativity and edu- cation, science and art. It takes shape as a novel musical instrument where magnetic 3D motion tracking technology meets musical per- formance and composition. CH is a Rubik’s cube with a note on each facet, and a chord or chord sequence on each face. The posi- tion of each facet is detected through magnetic 3D motion tracking. While scrambling the cube, the performer gets new chords and new chord sequences. CH can be used to compose, improvise,1 and teach music and mathematics (group theory, permu…
Hypercube + Rubik’s Cube + Music = HyperCubeHarmonic
2022
Musical chords and chord relations can be described through mathematics. Abstract permutations can be visualized through the Rubik’s cube, born as a pedagogical device [7,21]. Permutations of notes can also be heard through the CubeHarmonic, a novel musical instru- ment. Here, we summarize the basic ideas and the state of the art of the physical implementation of CubeHarmonic, discussing its conceptual lift- ing up to the fourth dimension, with the HyperCubeHarmonic (HCH). We present the basics of the hypercube theory and of the 4-dimensional Rubik’s cube, investigating its potential for musical applications. To gain intuition about HCH complexity, we present two practical implementa- tions…
I vincoli della trasformazione: riflessioni sulla metamorfosi tra letteratura, filosofia e biologia
2019
Per sopravvivere gli esseri viventi sono costretto a modificarsi di continuo, adattandosi all’ambiente e al variare delle circostanze. In questa costante alterazione formale come si conciliano identità e mutamento? Come può l’individuo preservarsi dal totale dissolvimento in qualcos’altro? Questi sono solo alcuni dei quesiti che nei secoli hanno spinto studiosi di Morfologia, Estetica e Biologia a indagare le trasformazioni organiche. Nella presente trattazione cercheremo di chiarire le somiglianze e le differenze fra alcuni concetti chiave del vocabolario della metamorfosi (trasformazione, permutazione, vincolo, libertà di cambiamento, modularità organica) adottando un approccio multidisci…
Prognostic significance of p16INK4a alterations and 9p21 loss of heterozigosity in locally advanced laryngeal squamous cell carcinoma
2002
The p16INK4a gene, localized within chromosome 9p21, has been identified as a cyclin-dependent kinase inhibitor and may negatively regulate the cell cycle acting as a tumor suppressor. Genetic alterations involving the 9p21 region are common in human cancers. A consecutive series of 64 untreated patients (median of follow up 53 months) undergoing surgical resection for locally advanced laryngeal squamous-cell carcinomas (LSCCs) has been studied prospectively. Our purpose was to investigate p16 alterations (9p21 allelic loss, hypermethylation and point mutations) and their possible association with clinico-pathological data and flow cytometric variables (DNA-ploidy and S-phase fraction (SPF)…
Identification and Characterization of BRCA1 and BRCA2 Founder Mutations
2012
A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a founder effect. We focused our review on the Italian founder mutations. The first Italian BRCA1 founder mutation, 5083del19, was found in Calabria: the presence of common allele in all carriers of this mutation (also in families with Calabrian origin living in other parts of Italy) confirmed its founder effect. The same BRCA1 mutation was identified in the Sicilian population, but only the haplotype analysis can reveal the common ancestor o…
Analysis of early strains of the norovirus pandemic variant GII.4 Sydney 2012 identifies mutations in adaptive sites of the capsid protein.
2014
AbstractGlobal surveillance for norovirus identified in 2012 the emergence of a novel pandemic GII.4 variant, termed Sydney 2012. In Italy, the novel pandemic variant was identified as early as November 2011 but became predominant only in the winter season 2012–2013. Upon sequencing and comparison with strains of global origin, the early Sydney 2012 strains were found to differ from those spreading in 2012–2013 in the capsid (ORF2) putative epitopes B, C and D, segregating into a distinct phylogenetic clade. At least three residues (333, 340 and 393, in epitopes B, C and D, respectively) of the VP1 varied among Sydney 2012 strains of different clades. These findings suggest that the spread …
Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia
2012
Introduction. Primary hypobetalipoproteinemia (pHBL) is a monogenic heterogeneous condition inherited as a dominant or recessive trait characterized by total cholesterol (TC) and/or LDL cholesterol (LDL-C) and/or apolipoprotein B (APOB) levels below the 5th percentile of the reference population. Heterozygous APOB gene mutations are responsible for the majority of the dominant pHBL causing the familial hypobetalipoproteinemia (FHBL). Loss-of-function mutations in the PCSK9 gene also cause FHBL. Familial combined hypolipidemia is a recently discovered dyslipidemic phenotype characterized by low levels of TC, triglycerides (TG), LDL-C, and high-density lipoprotein cholesterol (HDL-C). The gen…
Lipid and apoprotein composition of HDL in partial or complete CETP deficiency
2012
Hyperalphalipoproteinemia, as observed in patients who are either homozygous or heterozygous for cholesteryl ester transfer protein (CETP) deficiency, has been shown to be associated with striking changes in apolipoprotein size distribution, namely, of high-density lipoprotein (HDL) and HDL-like particles. We compared the effect of varying degrees of CETP activity on the HDL apolipoprotein profile in Caucasian CETP-deficient subjects and following pharmacological decrease in CETP activity, using Size Exclusion Chromatography followed by Reverse Phase Protein Array (SEC RPA). The main HDL-associated apolipoproteins (Apo), i.e. ApoA-I, ApoA-II, ApoC-I, and ApoC-III, co-eluted with the HDL pea…
eNOS Activation by HDL Is Impaired in Genetic CETP Deficiency.
2014
Mutations in the CETP gene resulting in defective CETP activity have been shown to cause remarkable elevations of plasma HDL-C levels, with the accumulation in plasma of large, buoyant HDL particles enriched in apolipoprotein E. Genetic CETP deficiency thus represents a unique tool to evaluate how structural alterations of HDL impact on HDL atheroprotective functions. Aim of the present study was to assess the ability of HDL obtained from CETP-deficient subjects to protect endothelial cells from the development of endothelial dysfunction. HDL isolated from one homozygous and seven heterozygous carriers of CETP null mutations were evaluated for their ability to down-regulate cytokine-induced…