Search results for "HPO"

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.

2017

Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced chromosomal abnormalities. We found that the rearrangements predict disruption of long-range chromatin interactions between several enhancers and genes whose annotated clinical features are strongly …

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

2021

AbstractWhereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene,SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carryingSATB1variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression…

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

Shopping with virtual hands

2020

Retailers can use virtual reality as a new touchpoint for their customers: within an existent channel or as a new sales channel. Thus, it is crucial to understand the differences and similarities between the physical and the virtual shopping environment. Shopping simulations make it possible to test, observe, and collect data in a controlled, low-cost, and fast way compared to field experiments. However, past studies might have provided biased results due to the characteristics of the sample used. This study analyzes how consumers behave in two virtual shopping tasks. The exploratory, experimental research uses an immersive VR shopping environment and a sample of participants balanced acros…

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…

How Are Negative Customer Experiences Formed? A Qualitative Study of Customers’ Online Shopping Journeys

2019

This study investigates how negative customer experiences are formed during customers’ online shopping journeys. A qualitative, in-depth dataset collected from 34 participants was employed to identify negatively perceived touchpoints that contribute to the customer experience in a negative way. The findings reveal that negative touchpoints are experienced during customers’ entire journeys, particularly after a purchase is completed. We identified 152 negative touchpoints from the data, of which 53 were experienced during search and consideration, 35 when finalizing a purchase, 33 during delivery, and 31 during after-sales interactions with the company. Within these four main categories, 20 …

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…

Loyalty Formation for Different Customer Journey Segments

2019

The proliferation of new touchpoints empowers today's customers to design their own journey from search to purchase. To address this new complexity, we segment customers by their use of specific touchpoints in the customer journey, investigate the association of several covariates with segment membership, consider the rise of mobile devices as potential "game changers" of existing segments, and explore how the relationships among product satisfaction, journey satisfaction, customer inspiration, and customer loyalty differ across segments. Based on anticipated utility theory and using latent class analyses on large-scale data from two samples of 2,443 and 2,649 journeys, we identify five tim…

Icono(bio)logia dei simulacri

2014

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…