Search results for "Variations"
showing 10 items of 129 documents
Analysis of extended genomic rearrangements in oncological research.
2007
Screening for genomic rearrangements is a fundamental task in the genetic diagnosis of many inherited disorders including cancer-predisposing syndromes. Several methods were developed for analysis of structural genomic abnormalities, some are targeted to the analysis of one or few specific loci, others are designed to scan the whole genome. Locus-specific methods are used when the candidate loci responsible for the specific pathological condition are known. Whole-genome methods are used to discover loci bearing structural abnormalities when the disease-associated locus is unknown. Three main approaches have been employed for the analysis of locus-specific structural changes. The first two a…
Somatic copy number alterations are associated with EGFR amplification and shortened survival in patients with primary glioblastoma.
2019
Glioblastoma (GBM) is the most common malignant primary tumor of the central nervous system. With no effective therapy, the prognosis for patients is terrible poor. It is highly heterogeneous and EGFR amplification is its most frequent molecular alteration. In this light, we aimed to examine the genetic heterogeneity of GBM and to correlate it with the clinical characteristics of the patients. For that purpose, we analyzed the status of EGFR and the somatic copy number alterations (CNAs) of a set of tumor suppressor genes and oncogenes. Thus, we found GBMs with high level of EGFR amplification, low level and with no EGFR amplification. Highly amplified tumors showed histological features of…
Seasonal variations of antimicrobial activity and chemical composition of essential oils extracted from three Citrus limon L. Burm. cultivars
2014
In order to investigate the seasonal variations of antimicrobial properties and chemical composition of essential oils (EOs), three different cultivars of Citrus limon L. Burm. spp. (Femminello Santa Teresa, Monachello and Femminello Continella) were collected at 6-week intervals, from December 2012 to April 2013, for a total of four harvests. The EOs were extracted from lemon peel by hydro-distillation. The antimicrobial activity, tested by paper disc diffusion method, was evaluated against common food-related pathogenic bacteria (Listeria monocytogenes, Staphylococcus aureus, Salmonella enterica and Enterobacter spp.). EOs were more effective against Gram-positive than Gram-negative bacte…
The late Hauterivian Faraoni "Oceanic Anoxic Event" at Río Argos (southern Spain): an assessment on the level of oxygen depletion.
2013
14 pages; International audience; An integrated study of multiple geochemical proxies (TOC, δ13Ccarb, trace metallic elements, iron speciation) on the late Hauterivian Faraoni Oceanic Anoxic Event has been performed along the hemi-pelagic section of Río Argos (south-eastern Spain) in order to better constrain the environmental perturbations linked to this event in the Subbetic domain. In the studied section, the TOC is relatively low (b0.5 wt.%) except for one sample at the base of the Faraoni horizon, where it reaches 1.5 wt.%. The δ13Ccarb signal is characterized by a minor long-term increase, primarily attributed to an enhanced organic matter burial. However, both organic and isotopic si…
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 = …
The Stackelberg equilibrium as a consistent conjectural equilibrium
2011
International audience; We consider a static game with conjectural variations where some firms make conjectures while others do not. Two propositions are proved. We first show that there exists a continuum of conjectural variations such that the conjectural equilibrium locally coincides with the Stackelberg equilibrium (Proposition 1). Second, we define the conditions under which a conjectural equilibrium is a locally consistent equilibrium (i.e. such that conjectures are fulfilled). The conceptof (local) consistency is restricted to firms making conjectures. Two conditions on consistency are featured: consistency within a cohort and consistency among cohorts. The Stackelberg equilibrium fu…
Effets du cuivre sur quelques indicateurs de la qualité biologique des sols viticoles. Etude à différentes échelles
2008
Des produits à base de cuivre sont utilisés depuis plus d’un siècle en viticulture pour lutter contre le mildiou (et d’autres maladies). Cet élément s’accumule dans le sol, où il peut atteindre des concentrations importantes, susceptibles d’en altérer le fonctionnement biologique. Bien que potentiellement dangereux pour la biocénose des sols, le cuivre est toujours utilisé, notamment en Agriculture Biologique. Dans ce travail, nous avons cherché à préciser les impacts du cuivre sur quelques aspects de la qualité biologique des sols viticoles en conditions « réelles », à court, moyen et long terme. Les effets à long terme ont été appréciés à l’échelle d’une région viticole (la Champagne) à t…
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
2019
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…
Spatiotemporal Variations in the Abundance and Structure of Denitrifier Communities in Sediments Differing in Nitrate Content
2017
Spatial and temporal variations related to hydric seasonality in abundance and diversity of denitrifier communities were examined in sediments taken from two sites differing in nitrate concentration along a stream Doñ
Lower bounds for eigenvalues of a quadratic form relative to a positive quadratic form
1968
Abstract : A method is presented for the calculation of lower bounds to eigenvalues of operators that arise from variational problems for one quadratic form relative to a positive definite quadratic form. Eigenvalue problems of this kind occur, for example, in the theory of buckling of continuous linear elastic systems. The technique used is a modification of one introduced earlier, (1) sections II and IVB, for the determination of lower bounds to eigenvalues of semi-bounded self-adjoint operators. Other methods for the latter problem can be carried over without essential changes. The particular difficulty in the case we consider is that some operators which enter the calculation for the lo…