| 1. |
- Price, KM, et al.
(författare)
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Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities
- 2022
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Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 12:1, s. 495-
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Tidskriftsartikel (refereegranskat)abstract
- Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10–2, threshold = 2.5 × 10–2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10–2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10–4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.
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| 2. |
- Bertuccio, Giuseppe, et al.
(författare)
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Ultra Low Noise Epitaxial 4H-SiC X-Ray Detectors
- 2009
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Ingår i: Materials Science Forum. - : Trans Tech Publications Inc.. - 0255-5476 .- 1662-9752. ; 615-617, s. 845-848
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Tidskriftsartikel (refereegranskat)abstract
- The design and the experimental results of some prototypes of SiC X-ray detectors are presented. The devices have been manufactured on top of 2 inch 4H-SiC wafer with 115 μm thick undoped high purity epitaxial layer, which constitutes the detection’s active volume. Pad and pixel detectors based on Ni-Schottky junctions have been tested. The residual doping of the epi-layer was found tobe extremely low, 3.7 x 1013 cm-3, allowing to achieve the highest detection efficiency and the lower specific capacitance of the detectors. At 22 °C and in operating bias condition, the reverse current densities of the detector’s Schottky junctions have been measured to be between J = 0.3 pA/cm2 and J = 4 pA/cm2; these values are more than two orders of magnitude lower than those of state of the art silicon detectors. With such low leakage currents, the equivalent electronic noise of SiC pixel detectors is as low as 0.5 electrons r.m.s at room temperature, which represents a new state of the art in the scenario of semiconductor radiation detectors.
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| 3. |
- Larsson, Alfred, et al.
(författare)
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The Oxygen Evolution Reaction Drives Passivity Breakdown for Ni–Cr–Mo Alloys
- 2023
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Ingår i: Advanced Materials. - : Wiley. - 0935-9648 .- 1521-4095. ; 35:39
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Tidskriftsartikel (refereegranskat)abstract
- Corrosion is the main factor limiting the lifetime of metallic materials, and a fundamental understanding of the governing mechanism and surface processes is difficult to achieve since the thin oxide films at the metal–liquid interface governing passivity are notoriously challenging to study. In this work, a combination of synchrotron-based techniques and electrochemical methods is used to investigate the passive film breakdown of a Ni–Cr–Mo alloy, which is used in many industrial applications. This alloy is found to be active toward oxygen evolution reaction (OER), and the OER onset coincides with the loss of passivity and severe metal dissolution. The OER mechanism involves the oxidation of Mo4+ sites in the oxide film to Mo6+ that can be dissolved, which results in passivity breakdown. This is fundamentally different from typical transpassive breakdown of Cr-containing alloys where Cr6+ is postulated to be dissolved at high anodic potentials, which is not observed here. At high current densities, OER also leads to acidification of the solution near the surface, further triggering metal dissolution. The OER plays an important role in the mechanism of passivity breakdown of Ni–Cr–Mo alloys due to their catalytic activity, and this effect needs to be considered when studying the corrosion of catalytically active alloys.
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