| 1. |
- Gehlen, J., et al.
(author)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
- 2022
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In: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Journal article (peer-reviewed)abstract
- Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is the most common congenital malformation of the upper digestive tract. This study represents the first genome-wide association study (GWAS) to identify risk loci for EA/TEF. We used a European case-control sample comprising 764 EA/TEF patients and 5,778 controls and observed genome-wide significant associations at three loci. On chromosome 10q21 within the gene CTNNA3 (p = 2.11 × 10−8; odds ratio [OR] = 3.94; 95% confidence interval [CI], 3.10–5.00), on chromosome 16q24 next to the FOX gene cluster (p = 2.25 × 10−10; OR = 1.47; 95% CI, 1.38–1.55) and on chromosome 17q12 next to the gene HNF1B (p = 3.35 × 10−16; OR = 1.75; 95% CI, 1.64–1.87). We next carried out an esophageal/tracheal transcriptome profiling in rat embryos at four selected embryonic time points. Based on these data and on already published data, the implicated genes at all three GWAS loci are promising candidates for EA/TEF development. We also analyzed the genetic EA/TEF architecture beyond the single marker level, which revealed an estimated single-nucleotide polymorphism (SNP)-based heritability of around 37% ± 14% standard deviation. In addition, we examined the polygenicity of EA/TEF and found that EA/TEF is less polygenic than other complex genetic diseases. In conclusion, the results of our study contribute to a better understanding on the underlying genetic architecture of ET/TEF with the identification of three risk loci and candidate genes. © 2022 The Authors
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| 2. |
- Fortuna, E., et al.
(author)
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Plasma-induced damage of tungsten coatings on graphite limiters
- 2007
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In: Physica Scripta. - 0031-8949 .- 1402-4896. ; T128, s. 162-165
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Journal article (peer-reviewed)abstract
- Vaccum plasma sprayed tungsten coatings with an evaporated sandwich Re - W interlayer on graphite limiter blocks were studied after the experimental campaign in the TEXTOR tokamak. The coating morphology was modified by high-heat loads and co-deposition of species from the plasma. Co-deposits contained fuel species, carbon, boron and silicon. X-ray diffractometer phase analysis indicated the coexistence of metallic tungsten and its carbides (WC and W2C) and boride (W2B). In the Re - W layer the presence of carbon was detected in a several micrometres thick zone. In the overheated part of the limiter, the Re - W layer was transformed into a sigma phase.
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| 3. |
- Krawczynska, A. T., et al.
(author)
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Impact of high pressure torsion processing on helium ion irradiation resistance of molybdenum
- 2022
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In: Materials Characterization. - : Elsevier BV. - 1044-5803 .- 1873-4189. ; 191, s. 112151-
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Journal article (peer-reviewed)abstract
- The microstructure of Mo was significantly refined by high pressure torsion to verify its irradiation tolerance in comparison with its micrograined counterpart. After deformation microhardness increased from 231 Hv0.2 for a microgarined sample to 542 and 558 Hv0.2, respectively after one and five rotations. Concurrently, the grain refinement was observed, as the grain size decreased with the increase of the deformation degree down to 480 and 110 nm, respectively for one and five rotations. Subsequently, deformed Mo and a micrograined one were irradiated by He ions to the dose of 8 x 1016/cm 2 to verify their potential application as fusion mirrors. Irra-diations were followed by reflectivity measurements in the 300-2400 nm range with a dual beam spectrometer. The measurements revealed that the applied dose causes a decrease in total reflectivity of the micrograined sample, whereas the total reflectivity of deformed samples decreases by additional 2.5%. Nanohardness mea-surements, detailed microscopy observations using focused ion beam and scanning transmission electron mi-croscope as well as positron annihilation spectroscopy investigations were performed to elucidate changes in the microstructure and understand the different mechanisms of bubble creation after irradiation in micrograined and high pressure torsion processed samples.
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