Search results for " Computational"
showing 10 items of 661 documents
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
2013
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.
Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease
2017
Abstract In an increasing proportion of cases, hepatocellular carcinoma (HCC) develops in patients with nonalcoholic fatty liver disease (NAFLD). Mutations in telomerase reverse transcriptase (hTERT) are associated with familial liver diseases. The aim of this study was to examine telomere length and germline hTERT mutations as associated with NAFLD‐HCC. In 40 patients with NAFLD‐HCC, 45 with NAFLD‐cirrhosis and 64 healthy controls, peripheral blood telomere length was evaluated by qRT‐PCR and hTERT coding regions and intron–exon boundaries sequenced. We further analyzed 78 patients affected by primary liver cancer (NAFLD‐PLC, 76 with HCC). Enrichment of rare coding mutations (allelic frequ…
Numerical solution of a spatio-temporal gender-structured model for hantavirus infection in rodents.
2017
In this article we describe the transmission dynamics of hantavirus in rodents using a spatio-temporal susceptible-exposed-infective-recovered (SEIR) compartmental model that distinguishes between male and female subpopulations [L.J.S. Allen, R.K. McCormack and C.B. Jonsson, Bull. Math. Biol. 68 (2006), 511--524]. Both subpopulations are assumed to differ in their movement with respect to local variations in the densities of their own and the opposite gender group. Three alternative models for the movement of the male individuals are examined. In some cases the movement is not only directed by the gradient of a density (as in the standard diffusive case), but also by a non-local convolution…
The Genome of the Sea Urchin Strongylocentrotus purpuratus
2006
We report the sequence and analysis of the 814-megabase genome of the sea urchin Strongylocentrotus purpuratus , a model for developmental and systems biology. The sequencing strategy combined whole-genome shotgun and bacterial artificial chromosome (BAC) sequences. This use of BAC clones, aided by a pooling strategy, overcame difficulties associated with high heterozygosity of the genome. The genome encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside the deuterostomes. This echinoderm genome provides an evolutionary outgroup for the chordates and yields insights into the evolution of deuterostomes.
Early evaluation using a radiomic signature of unresectable hepatic metastases to predict outcome in patients with colorectal cancer treated with FOL…
2020
PurposeThe objective of this study was to build and validate a radiomic signature to predict early a poor outcome using baseline and 2-month evaluation CT and to compare it to the RECIST1·1 and morphological criteria defined by changes in homogeneity and borders.MethodsThis study is an ancillary study from the PRODIGE-9 multicentre prospective study for which 491 patients with metastatic colorectal cancer (mCRC) treated by 5-fluorouracil, leucovorin and irinotecan (FOLFIRI) and bevacizumab had been analysed. In 230 patients, computed texture analysis was performed on the dominant liver lesion (DLL) at baseline and 2 months after chemotherapy. RECIST1·1 evaluation was performed at 6 months. …
Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization
2012
Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …
ℓ1-Penalized Methods in High-Dimensional Gaussian Markov Random Fields
2016
In the last 20 years, we have witnessed the dramatic development of new data acquisition technologies allowing to collect massive amount of data with relatively low cost. is new feature leads Donoho to define the twenty-first century as the century of data. A major characteristic of this modern data set is that the number of measured variables is larger than the sample size; the word high-dimensional data analysis is referred to the statistical methods developed to make inference with this new kind of data. This chapter is devoted to the study of some of the most recent ℓ1-penalized methods proposed in the literature to make sparse inference in a Gaussian Markov random field (GMRF) defined …
Elucidating the Effect of Bimodal Grain Size Distribution on Plasticity and Fracture Behavior of Polycrystalline Materials
2020
The refinement of grains in a polycrystalline material leads to an increase in strength but as a counterpart to a decrease in elongation to fracture. Different routes are proposed in the literature to try to overpass this strength-ductility dilemma, based on the combination of grains with highly contrasted sizes. In the simplest concept, coarse grains are used to provide relaxation locations for the highly stressed fine grains. In this work, a model bimodal polycrystalline system with a single coarse grain embedded in a matrix of fine grains is considered. Numerical full-field micro-mechanical analyses are performed to characterize the impact of this coarse grain on the stress-strain const…
A three-dimensional cohesive-frictional grain-boundary micromechanical model for intergranular degradation and failure in polycrystalline materials
2013
Abstract In this study, a novel three-dimensional micro-mechanical crystal-level model for the analysis of intergranular degradation and failure in polycrystalline materials is presented. The polycrystalline microstructures are generated as Voronoi tessellations, that are able to retain the main statistical features of polycrystalline aggregates. The formulation is based on a grain-boundary integral representation of the elastic problem for the aggregate crystals, that are modeled as three-dimensional anisotropic elastic domains with random orientation in the three-dimensional space. The boundary integral representation involves only intergranular variables, namely interface displacement di…
Femtosecond laser pulse shaping for enhanced ionization
2009
El pdf del artículo es la versión post-print: arXiv:0906.1938v1