Search results for " Variation"
showing 10 items of 1712 documents
Genome-Wide Analyses Identifies Known and New Markers Responsible of Chicken Plumage Color
2020
Simple Summary In order to assess sources of variation related to Polverara breed plumage color (black vs. white), we carried out genome-wide analyses to identify the genomic regions involved in this trait. The present work has revealed new candidate genes involved in the phenotypic variability in local chicken populations. These results also contribute insights into the genetic basis for plumage color in poultry, and confirm the great complexity of the mechanisms that control this trait. Abstract Through the development of the high-throughput genotyping arrays, molecular markers and genes related to phenotypic traits have been identified in livestock species. In poultry, plumage color is a…
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
2010
We undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 x 10(-8)). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP. Combined with previously confirmed loci, these results identify 71 distinct loci with gen…
Genome-wide analysis reveals the patterns of genetic diversity and population structure of 8 Italian local chicken breeds
2021
The aim of this study was to conduct a genome-wide comparative analysis of 8 local Italian chicken breeds (Ermellinata di Rovigo, Millefiori di Lonigo [PML], Polverara Bianca, Polverara Nera, Padovana, Pepoi [PPP], Robusta Lionata, and Robusta Maculata), all under a conservation plan, to understand their genetic diversity and population structure. A total of 152 animals were analyzed using the Affymetrix Axiom 600 K Chicken Genotyping Array. The levels of genetic diversity were highest and lowest in PML and PPP, respectively. The results of genomic inbreeding based on runs of homozygosity (ROH; FROH) showed marked differences among breeds and ranged from 0.161 (PML) to 0.478 (PPP). Furtherm…
Dystrophin-deficiency increases the susceptibility to doxorubicin-induced cardiotoxicity
2007
Background and aim: The clinical use of doxorubicin (DOX) and other anthracyclines is limited by a dosage-dependent cardiotoxicity, which can lead to cardiomyopathy. The role of the individual genetic makeup in this disorder is poorly understood. Alterations in genes encoding cardiac cytoskeleton or sarcolemma proteins may increase the susceptibility to doxorubicin-related cardiotoxicity. Methods: Female dystrophin-deficient mice (MDX) and age-matched wild-type mice underwent chronic treatment with doxorubicin. Cardiac function and tissue damage were assessed by echocardiography and histopathology, respectively. Gene expression changes were investigated using microarrays. Results: DOX treat…
Cirugía de liberación del túnel carpiano: variabilidad e impacto de la cirugía ambulatoria en la Comunidad Valenciana
2013
Objective: This study aimed to analyze variability in rates of carpal tunnel release surgery among the healthcare areas of the autonomous region of Valencia, and to evaluate the contribution of ambulatory surgery and referrals to private hospitals to the variability found. Methods: We carried out a cross-sectional, population-based study, describing the rates of carpal tunnel release surgery, standardized by age and sex, among areas in the region of Valencia in 2006. The observed variation was then analyzed using small-area analysis methods. Data from hospital admissions, referrals to private hospitals, population statistics and hospital resources were used to construct standardized rates, …
Computational identification of cell-specific variable regions in ChIP-seq data.
2019
ABSTRACT Chromatin immunoprecipitation followed by sequencing (ChIP-seq) is used to identify genome-wide DNA regions bound by proteins. Several sources of variation can affect the reproducibility of a particular ChIP-seq assay, which can lead to a misinterpretation of where the protein under investigation binds to the genome in a particular cell type. Given one ChIP-seq experiment with replicates, binding sites not observed in all the replicates will usually be interpreted as noise and discarded. However, the recent discovery of high-occupancy target (HOT) regions suggests that there are regions where binding of multiple transcription factors can be identified. To investigate these regions,…
Automatic Temporal Expectancy: A High-Density Event-Related Potential Study
2013
How we compute time is not fully understood. Questions include whether an automatic brain mechanism is engaged in temporally regular environmental structure in order to anticipate events, and whether this can be dissociated from task-related processes, including response preparation, selection and execution. To investigate these issues, a passive temporal oddball task requiring neither time-based motor response nor explicit decision was specifically designed and delivered to participants during high-density, event-related potentials recording. Participants were presented with pairs of audiovisual stimuli (S1 and S2) interspersed with an Inter-Stimulus Interval (ISI) that was manipulated acc…
A study on the reproducibility of cephalometric landmarks when undertaking a three-dimensional (3D) cephalometric analysis
2012
Objectives: Cone Beam Computerized Tomography (CBCT) allows the possibility of modifying some of the diagnostic tools used in orthodontics, such as cephalometry. The first step must be to study the characteristics of these devices in terms of accuracy and reliability of the most commonly used landmarks. The aims were 1- To assess intra and inter-observer reliability in the location of anatomical landmarks belonging to hard tissues of the skull in images taken with a CBCT device, 2- To determine which of those landmarks are more vs. less reliable and 3- To introduce planes of reference so as to create cephalometric analyses appropriated to the 3D reality. Study design: Fifteen patients who h…
Generation of a DNA microarray for determination of E6 natural variants of human papillomavirus type 16.
2003
Infection with high-risk types of human papillomavirus (HPV) is necessary for the development of cervical cancer. However, the majority of the HPV infections are efficiently cleared by the immune system and only a minority persist and induce the development of malignant lesions. Several studies provided evidence that intratype genetic variations are implicated in determining the clinical outcome of HPV infections. In this study, we describe a DNA chip based on arrayed primer extension (APEX) for the analysis of the natural variants of HPV16, the most frequently detected type in cervical cancer world-wide. We show that HPV16 E6 variants are detected efficiently by APEX. In addition, APEX is …
Hymenoptera Chalcidoidea inhabiting galls of Cynipidae in Jordan
2009
Twenty-three species of Chalcidoidea (5 Eurytomidae, 4 Torymidae, 2 Ormyridae, 5 Pteromalidae and 7 Eulophidae) are recorded as regular members of the parasitoid fauna inhabiting galls of Cynipidae in Jordan. The occurrence of three additional species, probably only facultatively associated with cynipid galls, is noted. Twenty-two out of the total 26 species were previously unrecorded in the country, while 13 of them are also new for the entire Middle East. Eighteen new host records were detected, together with 24 new plant-parasitoid associations. The biology of each species is briefly commented upon, as well as the presence of a host-related colour variation in some species.