Search results for "Spots"
showing 10 items of 48 documents
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
2017
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classifi…
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
2013
Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a higher risk of haematological malignancies. SPRED1 is highly expressed in haematopoietic cells and negatively regulates haematopoiesis. SPRED1 seemed to be a good candidate for leukaemia predisposition or transformation. We performed SPRED1 mutation screening and expression status i…
Hotspots of species richness, threat and endemism for terrestrial vertebrates in SW Europe
2011
The Mediterranean basin, and the Iberian Peninsula in particular, represent an outstanding “hotspot” of biological diversity with a long history of integration between natural ecosystems and human activities. Using deductive distribution models, and considering both Spain and Portugal, we downscaled traditional range maps for terrestrial vertebrates (amphibians, breeding birds, mammals and reptiles) to the finest possible resolution with the data at hand, and we identified hotspots based on three criteria: i) species richness; ii) vulnerability, and iii) endemism. We also provided a first evaluation of the conservation status of biodiversity hotspots based on these three criteria considerin…
A Foliar Disease of European Hackberry Endemic in Sicily
2019
European hackberry (Celtis australis L.; Ulmaceae), a semideciduous tree or shrub that produces small edible berries was originally grown in Italy to produce charcoal and timber and was particularly suitable for making whipstocks, carriage wheel spokes, and hoe handles. European hackberry is currently used for reforestation and as shade trees in parks and roadside plantings. Recently, a foliar disease caused by the dematiaceous hyphomycetous fungus Sirosporium celtidis (Biv.-Bern. ex Sprengel) M.B. Ellis on hackberry saplings in a nursery was observed in the Piedmont Region (northern Italy) by Giannetti et al. (2), who referred to it as a rare disease. However, during a survey in the natur…
Evaluation of diode laser application on chemical analysis and surface microhardness of white spots enamel lesions with two remineralizing agents
2020
Background To investigate the effect of diode laser application and two commercial remineralizing agents on the remineralization and surface microhardness of white spot enamel lesions. Material and methods Sixty specimens were prepared then equally divided into six groups (n=10/group), according to the diode laser and the two commercial remineralizing agents applied to demineralized enamel surfaces (APF gel and sodium fluoride NaF mousse) with or without diode Laser application as follows; Group A; control, Group B; diode Laser application, Group C; APF gel application, Group D; NaF mousse application, Group E; APF gel application + diode Laser, Group F; NaF mousse application+ diode Laser.…
Assessing land condition as a first step to achieving land degradation neutrality : A case study of the Republic of Srpska
2018
Abstract Land Degradation Neutrality (LDN) is a key voluntary and aspirational target of Sustainable Development Goal (SDG) 15 which urges countries to protect, restore and promote sustainable use of terrestrial ecosystems, sustainably manage forests, combat desertification, and halt and reverse land degradation and halt biodiversity loss. A first and critical important step in the implementation of LDN is assessing the current land condition using not only active restoration of degraded land, but also targeting land degradation drivers behind the land degradation process. In a first step to achieve these goals, countries were provided a global dataset for three sub-indicators of land degra…
Saules aktīvo apgabalu īpatnību pētījumi, izmantojot novērojumus mikroviļņu diapazonā
2013
Elektroniskā versija nesatur pielikumus
The mass determination challenge for exoplanetary science
2023
The mass of an exoplanet is a key parameter for the characterisation of the internal structure of a planet, as well as the study of the formation and the evolution of the planet, and its atmosphere. The radial velocity technique allows for measuring the planetary mass from the radial velocity variation of its parent star. However, limitations in the property determination of exoplanets, particularly in their masses, can arise from various sources especially from astrophysical noise due to stellar variability, caused by magnetic activity, which affects the detection and characterisation of exoplanets. This PhD thesis aims to understand the impact of our knowledge of the planetary mass in the…
Modelagem espacial bayesiana para riqueza de elasmobrânquios do extremo sul do Brasil
2019
Compreender a distribuição espacial de espécies vulneráveis a exploração pesqueira pode subsidiar ações de manejo e conservação. O objetivo deste estudo foi mapear possíveis habitats essenciais para riqueza de elasmobrânquios no sul do Brasil. Os dados são oriundos de cruzeiro científico realizado em fevereiro de 2005 entre o arroio Chuí (33°45'S) e o Cabo de Santa Marta Grande (28°36'S). As informações disponíveis são posições georeferenciadas de 64 estações oceanográficas, a quantificação das capturas de elasmobrânquios e teleósteos com pesca de arrasto de fundo e o registro dos parâmetros ambientais de profundidade, temperatura e salinidade. Os dados foram ajustados a um Modelo Linear Ge…
Correcting the effect of stellar spots on ARIEL transmission spectra – II. The limb-darkening effect
2021
This paper is part of an effort to correct the transmission spectra of a transiting planet orbiting an active star. In Paper I (Cracchiolo et al. 2020) we have demonstrated a methodology to minimize the potential bias induced by unocculted star spots on the transmission spectrum, assuming a spot model parameterized by filling factor and temperature. In this work we introduce the limb darkening effect, therefore the position of the spot in the stellar disk and the impact parameter of the transiting planet now play a key role. The method is tested on simulations of planetary transits of three representative kinds of planetary systems, at ARIEL resolution. We find that a realistic treatment of…