Search results for " single"

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

Genomic Tools for the Characterization of Local Animal Genetic Resources: Application in Mascaruna Goat

2022

Italy contains a large number of local goat populations, some of which do not have a recognized genetic structure. The “Mascaruna” is a goat population reared for milk production in Sicily. In this study, a total of 72 individuals were genotyped with the Illumina Goat_IGGC_65K_v2 BeadChip with the aim to characterize the genetic diversity, population structure and relatedness with another 31 Italian goat populations. The results displayed a moderate level of genetic variability for Mascaruna, in concordance with the estimated values for Italian goats. Runs of homozygosity islands are linked to genes involved in milk production, immune response and local adaptation. Population structure anal…

Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry

2009

We conducted meta-analyses of genome-wide association studies (GWAS) for atrial fibrillation (AF) in participants from five community-based cohorts. Meta-analyses of 896 prevalent (15,768 referents) and 2,517 incident (21,337 referents) AF cases identified a novel locus for AF (ZFHX3, rs2106261, risk ratio [RR]=1.19; P=2.3×10−7), an association that was replicated in the German AF Network (odds ratio=1.44; P=1.6×10−11). Combining the discovery and replication results, rs2106261 was significantly associated with AF (RR=1.25; P=1.8×10−15).

Bi-2212 and Y123 highly curved single-crystal-like objects: whiskers, bows and ring-like structures

2012

High-temperature superconducting objects of Bi2Sr2CaCu2O8 and Y Ba2Cu3O7 highly curved in the ab-plane, such as curved/kinked whiskers, bows and ring-like structures, were obtained within a solid?liquid?solid (SLS) grass-like growth mechanism. As-grown objects are crystals with three-dimensional epitaxy similar to conventional single crystals: they can be viewed as crystal parts ?cut? from a conventional rectangular crystal. Between our curved objects and conventional crystals, whiskers or thin films there are some differences in the superconducting properties induced only by the shape factors and no new physics is observed. Some details of the growth mechanism are discussed, emphasizing cu…

TP53 mutations and S-phase fraction but not DNA-ploidy are independent prognostic indicators in laryngeal squamous cell carcinoma

2005

To prospectively evaluate the prognostic significance of TP53, H-, K-, and N-Ras mutations, DNA-ploidy and S-phase fraction (SPF) in patients affected by locally advanced laryngeal squamous cell carcinoma (LSCC). Eight-one patients (median follow-up was 71 months) who underwent resective surgery for primary operable locally advanced LSCC were analyzed. Tumor DNA was screened for mutational analysis by PCR/SSCP and sequencing. DNA-ploidy and SPF were performed by flow cytometric analyses. Thirty-six patients (44%) had, at least, a mutation in the TP53 gene. Of them, 22% (8/36) had double mutations and 3% (1/36) had triple mutations. In total, 46 TP53 mutations were observed. The majority (41…

Energy Transport in SiO2 Crystals: Luminescence Excitation Spectra of Stishovite and α-Quartz

2022

The financial support of the Latvian Science Council Grant No lzp-2021/1-0215 and the funding of the University of Latvia as the Centre of Excellence within the European Union's Horizon 2020 Framework Programme H2020-WIDESPREAD-01-2016-2017-TeamingPhase2 under grant agreement No. 739508, project CAMART2, are greatly acknowledged.

Experimental Investigation on Stiffness and Strength of Single-Lap Z-Pinned Joints in a Laminated CFRP Stress-Ribbon Strip

2016

Carbon fiber-reinforced polymer (carbon-polymer) is an advanced lightweight composite material with high strength and excellent resistance to corrosion and fatigue. Over the past decades, application of fiber-reinforced polymers has been spread from the aerospace to other branches of industry such as automobile and civil engineering. Unidirectional carbon-polymers have a high potential for replacing steel in tensile members. Recently, the first carbonpolymer stress-ribbon bridge has been constructed in Germany. The non-laminated strip-loop carbon-polymer thin strips were used as the load bearing components in this bridge. In comparison with the laminated components, the applied cables are c…

Characterization of synthetic Fe-Mg silicate spinels in the gamma-(Mgx,Fe1-x)2SiO4 series by means of single crystal XRD (x=0,0.4,0.5)

2009

Behavioral Activation through Virtual Reality for Depression: A Single Case Experimental Design with Multiple Baselines

2022

Behavioral activation (BA) is a structured psychotherapeutic approach for the treatment of major depressive disorder (MDD), which aims at increasing the engagement in activities that might bring enjoyment and meaning to patients’ lives. Although a growing body of evidence supports the effectiveness of BA, enhancing the motivation and activity level of depressed patients is often challenging. In the present study, we explored the effectiveness of a brief BA treatment supported by virtual reality (VR) to facilitate the visualization and anticipation of four pleasurable activities that we tried to re-introduce in the patients’ daily routine. To do so, we conducted a single-case experimental de…

Decoupled control scheme of grid-connected split-source inverters

2017

Grid-connected power conversion systems for renewable energy sources must fulfill several requirements, e.g., the high efficiency, the reduced cost and complexity, and, quite often, the boost capabilities that is usually achieved using a front-end dc–dc boost converter before the inversion stage, leading to a two-stage architecture. Meanwhile, single-stage power conversion systems, which perform the boosting operation within the inversion one, offer some potential advantages, in terms of reducing the complexity and the volume of the whole system. Among several proposed options, the split-source inverter (SSI) has been recently proposed by Abdelhakim et al. as an alternative option with some…