Search results for " DUP"
showing 10 items of 249 documents
Malattia di Dupuytren
2012
La malattia di Dupuytren ancora oggi rimane avvolta nel mistero: è incerta la paternità della sua prima descrizione, sebbene, e con molte polemiche, da centoottantuno anni è storicamente legata all’illustre chirurgo francese Guillaume Dupuytren. Un enigma per gli studiosi è anche la sua eziopatogenesi, in cui fattori ambientali, comportamentali, genetici, e biomolecolari, in parte ancora sconosciuti, interagiscono a più livelli, generando reazioni biochimiche a cascata che portano alla ben nota iperproliferazione dei fibroblasti e alla conseguente deposizione di collagene. Essa rappresenta inoltre una sfida per il chirurgo che deve districarsi tra tecniche operatorie differenti in relazione…
Points massiques, espace des sphères et « hyperbole »
2015
The use of massic points permits to define a branch of a hyperbola in the Euclidean plane using a Rational Quadratic Bézier Curve. In the space of spheres, a circular cone, a circular cylinder, a torus, a pencil of spheres or a Dupin cyclide is represented by a conic. If the kind of the pencil is Poncelet or if the canal surface is a circular cone, a spindle torus, a spindle or a horned Dupin cyclide, the curve is a circle which is seen as a hyperbole. The limit points of the pencil or the singular points of the Dupin cyclide can be determined using the asymptotes of this circle. In this article, we show that the use of massic points simplifies the modelization of these pencils or these Dup…
Unveiling adaptive mechanisms though experimental evolution: the role of duplicated genes and phenotypic plasticity in yeast, and the genetic variabi…
2021
Los seres vivos se enfrentan a condiciones ambientales cambiantes y habitualmente estresantes, agravadas por el cambio climático, que ponen a prueba su capacidad de supervivencia. El cambio en la composición genética de las poblaciones reside en las mutaciones, que son la fuente para la evolución y la adaptación a los cambios. La diversidad genética intrapoblacional está regulada por dos grandes fuerzas evolutivas que cambian la composición genética permitiendo así el acceso a nuevos fenotipos: la deriva genética y la selección natural. Por un lado, la deriva genética fija mutaciones en la población de manera aleatoria e independiente del efecto que suponga dicha mutación para la población.…
Nouveaux modèles géométriques pour la CAO et la synthèse d'images
2017
La géométrie du 21ème siècle est indissociable de l'ordinateur. La performance des logiciels de géométrie qu'ils soient gratuits ou sous licence d'exploitation s'accroit de jour en jour. La plupart repose sur la représentation de courbes à l'aide de points de contrôle communément appelés courbes Bézier ou courbes splines. L'ouvrage traite de ses courbes représentées par des points massiques c'est à dire des points pondérés ou des vecteurs. Plongées dans un espace non euclidien dit espace de Minkovski- Lorentz, elles servent à la représentation de surfaces canal, enveloppes de sphères orientées. En particulier, les coniques planes représentées par des points massiques de contrôle, placées da…
Transcriptional Rewiring, Adaptation, and the Role of Gene Duplication in the Metabolism of Ethanol of Saccharomyces cerevisiae
2020
Ethanol is the main by-product of yeast sugar fermentation that affects microbial growth parameters, being considered a dual molecule, a nutrient and a stressor. Previous works demonstrated that the budding yeast arose after an ancient hybridization process resulted in a tier of duplicated genes within its genome, many of them with implications in this ethanol “produce-accumulate-consume” strategy. The evolutionary link between ethanol production, consumption, and tolerance versus ploidy and stability of the hybrids is an ongoing debatable issue. The implication of ancestral duplicates in this metabolic rewiring, and how these duplicates differ transcriptionally, remains unsolved. Here, we …
In vitro evolution of an atrazine-degrading population under cyanuric acid selection pressure: Evidence for the selective loss of a 47kb region on th…
2011
International audience; The adaptation of microorganisms to pesticide biodegradation relies on the recruitment of catabolic genes by horizontal gene transfer and homologous recombination mediated by insertion sequences (IS). This environment-friendly function is maintained in the degrading population but it has a cost which could diminish its fitness. The loss of genes in the course of evolution being a major mechanism of ecological specialization, we mimicked evolution in vitro by sub-culturing the atrazine-degrading Pseudomonas sp. ADP in a liquid medium containing cyanuric acid as the sole source of nitrogen. After 120 generations, a new population evolved, which replaced the original on…
Pinpointing the PRDM9-PRDM7 Gene Duplication Event During Primate Divergence
2021
Studies on the function of PRDM9 in model systems and its evolution during vertebrate divergence shed light on the basic molecular mechanisms of hybrid sterility and its evolutionary consequences. However, information regarding PRDM9-homolog, PRDM7, whose origin is placed in the primate evolutionary tree, as well as information about the fast-evolving DNA-binding zinc finger array of strepsirrhine PRDM9 are scarce. Thus, we aimed to narrow down the date of the duplication event leading to the emergence of PRDM7 during primate evolution by comparing the phylogenetic tree reconstructions of representative primate samples of PRDM orthologs and paralogs. To confirm our PRDM7 paralogization patt…
F-Type Lectins: A highly diversified family of fucose-binding proteins with a unique sequence motif and structural fold, involved in self/non-self-re…
2017
The F-type lectin (FTL) family is one of the most recent to be identified and structurally characterized. Members of the FTL family are characterized by a fucose recognition domain [F-type lectin domain (FTLD)] that displays a novel jellyroll fold (“F-type” fold) and unique carbohydrate- and calcium-binding sequence motifs. This novel lectin family comprises widely distributed proteins exhibiting single, double, or greater multiples of the FTLD, either tandemly arrayed or combined with other structurally and functionally distinct domains, yielding lectin subunits of pleiotropic properties even within a single species. Furthermore, the extraordinary variability of FTL sequences (isoforms) th…
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…
2006
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12
2011
A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary nystagmus, a weak and dysarthric voice, rolling gait, unstable posture, and atactic movements. She did not show several cardinal features typical of AT such as frequent, severe infections of the respiratory tract. In contrast, she showed symptoms not generally related to AT, including microcephaly, profound motor and mental retardation, small hands and feet, severely and progressively reduced muscle tone with slackly protruding abdomen and undue drooling, excess fat on her upper arms, and severe oligoarthritis. A cranial…