Search results for "C lo"
showing 10 items of 794 documents
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…
2020
Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …
New insights on water buffalo genomic diversity and post-domestication migration routes from medium density SNP chip data
2018
Made available in DSpace on 2018-12-11T16:52:11Z (GMT). No. of bitstreams: 0 Previous issue date: 2018-03-02 The domestic water buffalo is native to the Asian continent but through historical migrations and recent importations, nowadays has a worldwide distribution. The two types of water buffalo, i.e., river and swamp, display distinct morphological and behavioral traits, different karyotypes and also have different purposes and geographical distributions. River buffaloes from Pakistan, Iran, Turkey, Egypt, Romania, Bulgaria, Italy, Mozambique, Brazil and Colombia, and swamp buffaloes from China, Thailand, Philippines, Indonesia and Brazil were genotyped with a species-specific medium-dens…
Beyond the classic extinction network: a wider, comparative view
2020
Abstract Extinction learning modifies the dynamics of brain circuits such that a previously learned conditioned response is no longer generated. The majority of extinction studies use fear conditioning in rodents and identified the prefrontal cortex, the hippocampus, and the amygdala as core regions of the extinction circuit. We sought to find answers to two questions: First, do we find a similar functional brain circuit in birds, which underwent a 300-million-year separate evolution from mammals? Second, do we have to incorporate the cerebellum as a key component of the central extinction circuit? We indeed show that the avian extinction pathways are not identical but highly similar to tho…
Low-cost scalable discretization, prediction and feature selection for complex systems
2019
The introduced data-driven tool allows simultaneous feature selection, model inference, and marked cost and quality gains.
How to do things with signs. The formulation of directives on signs in public spaces
2021
Abstract This paper analyzes signs and written messages aimed at regulating people's behavior in public spaces. Based on a collection of more than 700 verbal and pictographic signs, the paper focuses on how the formulation of the directives reflect and construct the authors' deontic authority, how they account for the social legitimacy of the directive and how they seek to evoke the addressee's goodwill and cooperativeness. The analysis shows that the author's entitlement to perform the directive may be grounded in references to institutional authority, or that it may be manifested in the linguistic or pictographic expression itself, such as use of imperative mode, exclamation marks, or thr…
Probabilistic cross-validation estimators for Gaussian process regression
2018
Gaussian Processes (GPs) are state-of-the-art tools for regression. Inference of GP hyperparameters is typically done by maximizing the marginal log-likelihood (ML). If the data truly follows the GP model, using the ML approach is optimal and computationally efficient. Unfortunately very often this is not case and suboptimal results are obtained in terms of prediction error. Alternative procedures such as cross-validation (CV) schemes are often employed instead, but they usually incur in high computational costs. We propose a probabilistic version of CV (PCV) based on two different model pieces in order to reduce the dependence on a specific model choice. PCV presents the benefits from both…
Molecular characterization of Treponema pallidum subsp. pallidum in Switzerland and France with a new multilocus sequence typing scheme
2018
Syphilis is an important public health problem and an increasing incidence has been noted in recent years. Characterization of strain diversity through molecular data plays a critical role in the epidemiological understanding of this re-emergence. We here propose a new high-resolution multilocus sequence typing (MLST) scheme for Treponema pallidum subsp. pallidum (TPA). We analyzed 30 complete and draft TPA genomes obtained directly from clinical samples or from rabbit propagated strains to identify suitable typing loci and tested the new scheme on 120 clinical samples collected in Switzerland and France. Our analyses yielded three loci with high discriminatory power: TP0136, TP0548, and TP…
Genetic and Epigenetic Factors of Takotsubo Syndrome: A Systematic Review
2021
Takotsubo syndrome (TTS), recognized as stress’s cardiomyopathy, or as left ventricular apical balloon syndrome in recent years, is a rare pathology, described for the first time by Japanese researchers in 1990. TTS is characterized by an interindividual heterogeneity in onset and progression, and by strong predominance in postmenopausal women. The clear causes of these TTS features are uncertain, given the limited understanding of this intriguing syndrome until now. However, the increasing frequency of TTS cases in recent years, and particularly correlated to the SARS-CoV-2 pandemic, leads us to the imperative necessity both of a complete knowledge of TTS pathophysiology for identifying bi…
Menstrual problems and lifestyle among Spanish university women
2020
Menstrual problems affect many young women worldwide, conditioning both their academic performance and quality of life. This study sought to analyse the prevalence of menstrual problems and their possible relationship with lifestyle among Spanish university women, as part of a research project (UniHcos Project) involving a cohort of 11 Spanish universities with 7208 university students. A descriptive analysis was performed using the bivariate chi-square test and the Student&rsquo
pH Feedback Lifecycles Programmed by Enzymatic Logic Gates Using Common Foods as Fuels
2021
Abstract Artificial temporal signaling systems, which mimic living out‐of‐equilibrium conditions, have made large progress. However, systems programmed by enzymatic reaction networks in multicomponent and unknown environments, and using biocompatible components remain a challenge. Herein, we demonstrate an approach to program temporal pH signals by enzymatic logic gates. They are realized by an enzymatic disaccharide‐to‐monosaccharide‐to‐sugar acid reaction cascade catalyzed by two metabolic chains: invertase‐glucose oxidase and β‐galactosidase‐glucose oxidase, respectively. Lifetimes of the transient pH signal can be programmed from less than 15 min to more than 1 day. We study enzymatic k…