Search results for "GENETIC STRUCTURE"
showing 10 items of 2283 documents
Fire and phylogenetic structure of soil microbial communities in Mediterranean ecosystems
2017
Tesis llevada a cabo para conseguir el grado de Doctor por la Universidad de Valencia.--2018-02-21.--Sobresaliente Cum laudem
Genetic structure in the paleoendemic and endangered Petagnaea gussonei (Spreng.) Rauschert (Saniculoideae, Apiaceae) and implications for its conser…
2012
Our investigation aims to understand the genetic structure and evolutionary history of Petagnaea gussonei, an ancient and endangered species belonging to the Saniculoideae subfamily (Apiaceae). It is paleoendemic to Sicily, with a small number of populations in the Nebrodi Mountains. A total of seven chloroplast microsatellite repeat loci and 12 AFLP primer combinations were used to screen 115 individuals corresponding to 17 populations. The ratio of seed to pollen flow was also calculated using the modified Ennos equation. A relatively high level of genetic diversity was detected with AFLPs (e.g., 0.045 < H < 0.278), and a moderate variation was also found using cpSSRs (0 < Hk < 0.667). Tw…
Genetic structure and differentiation from early bronze age in the mediterranean island of sicily: Insights from ancient mitochondrial genomes
2022
Sicily is one of the main islands of the Mediterranean Sea, and it is characterized by a variety of archaeological records, material culture and traditions, reflecting the history of migrations and populations’ interaction since its first colonization, during the Paleolithic. These deep and complex demographic and cultural dynamics should have affected the genomic landscape of Sicily at different levels; however, the relative impact of these migrations on the genomic structure and differentiation within the island remains largely unknown. The available Sicilian modern genetic data gave a picture of the current genetic structure, but the paucity of ancient data did not allow so far to make p…
Elektrophysiologische Untersuchung zum Einsatz von Streptolysin O und Natrium-Hyaluronat zur Permeabilitätsmodulation der Membran des runden Fensters…
2003
Background: The round window membrane (RWM) acts like a barrier for topically applied substances into the middle ear preventing diffusion into the perilymphatic fluid compartment. Material and Method: In an animal model, modulation of the permeability of the RWM was attempted using Streptolysin-O (SLO) in various concentrations and sodium hyaluronate. Thereafter, the effect of intratympanically applied Lidocain 2% on hearing threshold measured by auditory brainstem response was tested for Lidocain 2 % and Lidocain 2 % in combination with SLO or sodium hyaluronate. Results: The results show that both, SLO and sodium hyaluronate, influence the effect of Lidocain 2 % on hearing thresholds as a…
Accommodative response in various design soft contact lens wearers
2021
The progression of myopia in young adults due to inadequate accommodation is currently one of the global research challenges. Studies have demonstrated that multifocal contact lenses have a different effect on accommodative response. The aim of this study was to assess the accommodative lag using various design multifocal contact lenses at different working distances. The study was conducted on 10 emmetropic subjects aged 22â28 years. An open-field autorefractor PowerRef 3 was used to assess the response of eye accommodation to stimuli placed at a distance of 25 cm and 40 cm for subjects wearing monofocal and multifocal contact lenses. To determine the effectiveness of contact lens design f…
Objective Amplitude of Accommodation Computed from Optical Quality Metrics Applied to Wavefront Outcomes
2009
Purpose: We studied the accuracy and precision of 32 objective wavefront methods for finding the amplitude of accommodation obtained in 180 eyes. Methods: Ocular accommodation was stimulated with 0.5 D steps in target vergence spanning the full range of accommodation for each subject. Subjective monocular amplitude of accommodation was measured using two clinical methods, using negative lenses and with a custom Badal optometer. Results: Both subjective methods gave similar results. Results obtained from the Badal optometer where used to test the accuracy of the objective methods. All objective methods showed lower amplitude of accommodation that the subjective ones by an amount that varied …
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
A comparison among different techniques for human ERG signals processing and classification
2014
A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
Risk Perception and Psychological Distress in Genetic Counselling for Hereditary Breast and/or Ovarian Cancer
2017
International audience; Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals' psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular…