Search results for "SHP"
showing 10 items of 25 documents
Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
2020
ABSTRACTShprintzen-Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys-Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped to the transcriptional corepressor SKI, which is a negative regulator of TGF-β signaling that is rapidly degraded upon ligand stimulation. The molecular consequences of these mutations, however, are not understood. Here we use a combination of structural biology, genome editing and biochemistry to show that SGS mutations in SKI abolish its binding to phosphorylated SMAD2 and SMAD3. This resul…
A Novel Solution to Find the Dynamic Response of an Euler–Bernoulli Beam Fitted with Intraspan TMDs under Poisson Type Loading
2020
This contribution considers a virtual experiment on the vibrational response of rail and road bridges equipped with smart devices in the form of damping elements to mitigate vibrations. The internal damping of the bridge is considered a discontinuity that contain a dashpot. Exact complex eigenvalues and eigenfunctions are derived from a characteristic equation built as the determinant of a 4 x 4 matrix
Aprendiendo Vibraciones Mec´anicas con Wolfram Mathematica
2015
[EN] Mechanical vibrations as subject can be found within many Engineering and Science Degrees. To achieve that the students understand the mathematics and its physical interpretation is the objective we should get as docents. In this paper we describe how to create a simple graphical model of a single degree of freedom vibrating system allowing us to visualize concepts like above concepts damping, resonance or forced vibrations. For that, we use the popular symbolic software Wolfram Mathematica with which, without an excessive programming complexity, we can obtain a very satisfactory visual model capable to move itself, controlled by parameters. In addition, the model incorporates the curv…
The influence of addition of Borago officinalis with antibacterial activity on the sensory quality of fresh pasta
2015
Abstract Borage (Borago officinalis L.) is a herbaceous plant of the Boraginaceae family cultivated throughout the world for several purposes, including food preparations, mainly beverages and salads. Some Italian recipes use borage as a food ingredient, in particular as condiment for pasta. The aqueous extract (AE) from borage leaves can act as biopreservative in foods due to its inhibition towards the main foodborne pathogen bacteria. Fresh pasta, due to the high content of water, is a food product with a limited shelf life. In order to test the suitability of borage to produce fresh pasta with a prolonged shelf life, borage AE was used in dried form as a raw material for the production o…
Molecular and patho-physiological basis of syndromes with developmental anomalies and intellectual disability
2013
Intellectual disability (ID) corresponds to abnormal intellectual performances and adaptive functions, beginning in childhood. It is estimated that 2-3% of individuals develop a ID, which represents a significant medical challenge since people with ID are frequently in situations of social dependence. Overall, a critical involvement of genetic factors in this disease is suspected. To date, several hundreds of genes are known to be responsible for ID. The ID is particularly characterized by extreme clinical and genetic heterogeneity, that made it resistant to conventional genetic studies. However, it is classicaly separated between syndromic ID, which may be clinically recognizable due to as…
Exact mechanical models of fractional hereditary materials
2012
Fractional Viscoelasticity is referred to materials, whose constitutive law involves fractional derivatives of order β R such that 0 β 1. In this paper, two mechanical models with stress-strain relation exactly restituting fractional operators, respectively, in ranges 0 β 1 / 2 and 1 / 2 β 1 are presented. It is shown that, in the former case, the mechanical model is described by an ideal indefinite massless viscous fluid resting on a bed of independent springs (Winkler model), while, in the latter case it is a shear-type indefinite cantilever resting on a bed of independent viscous dashpots. The law of variation of all mechanical characteristics is of power-law type, strictly related to th…
Multicolor upconversion luminescence of GdVO4:Ln3+/Yb3+ (Ln3+ = Ho3+, Er3+, Tm3+, Ho3+/Er3+/Tm3+) nanorods
2016
Lanthanide-doped GdVO4 nanorods that exhibit upconversion emission under 982 nm excitation have been prepared by a facile room-temperature chemical co-precipitation method followed by a subsequent annealing at temperatures of 600 degrees C, 800 degrees C and 1000 degrees C. Multicolor upconversion emission, including white, was achieved by tuning the concentrations of dopant lanthanide ions (Ho3+, Er3+, Tm3+ and Yb3+) in GdVO4. It is found that four GdVO4 samples emit light with the white chromaticity coordinates of (0.326, 0.339), (0.346, 0.343), (0.323, 0327) and (0.342, 0.340) respectively, under a single-wavelength NIR excitation. These coordinates are very close to the standard equal e…
On the reception of Wilhelm von Humboldt’s linguistic ideas in the Soviet Union from the late 1920s to the early 1950s
2015
The present article discusses the Soviet reception of Humboldt’s linguistic ideas, focusing on different interpretations of his ideas during the period between the latter half of the 1920s and the early 1950s. While Humboldt’s idea of the inner form of language was an important ingredient in Shpet’s phenomenology, the attitude towards Humboldt changed radically in the late 1920s and early 1930s when the ‘bolshevization’ of the sciences had reached linguistics. The idea that language, nation, and culture are closely interconnected was at odds with the ‘Marxist’ idea of class-language, according to which linguistic diversity derives from the socio-economic characteristics of societies. In the…
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
2012
International audience; Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mut…
Linear and nonlinear fractional hereditary constitutive laws of asphalt mixtures
2016
The aim of this paper is to propose a fractional viscoelastic and viscoplastic model of asphalt mixtures using experimental data of several tests such as creep and creep recovery performed at different temperatures and at different stress levels. From a best fitting procedure it is shown that both the creep one and recovery curve follow a power law model. It is shown that the suitable model for asphalt mixtures is a dashpot and a fractional element arranged in series. The proposed model is also available outside of the linear domain but in this case the parameters of the model depend on the stress level.