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- Gehlen, J., et al.
(författare)
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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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Ingår i: Human Genetics and Genomics Advances. - : Elsevier BV. - 2666-2477. ; 3:2
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Tidskriftsartikel (refereegranskat)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. |
- Dalin, P., et al.
(författare)
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Studies of noctilucent clouds from the stratosphere during the SONC balloon-borne experiment in 2021
- 2022
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Ingår i: Journal of Atmospheric and Solar-Terrestrial Physics. - : Elsevier BV. - 1364-6826 .- 1879-1824. ; 240
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Tidskriftsartikel (refereegranskat)abstract
- On the night 16–17 August 2021, a balloon-borne experiment called Stratospheric Observations of Noctilucent Clouds (SONC) was successfully performed. A big scientific balloon, having onboard three automated cameras for studies of noctilucent clouds (NLC), was launched to 32.7 km altitude from Esrange (northern Sweden). All three NLC cameras and electronics were completely operational in the stratosphere for more than 10 h at low temperatures of about −30 °C. Two wide angle cameras registered an extended NLC field of about 1700 km long in the twilight sky sector from the north-west to the north-east of Esrange. NLC were of a moderate brightness and were located at high latitudes between 68° and 71°N. The NLC field was located in a cold area (138–142 K) below the frost point temperature (145–148 K) in the mesopause region that was confirmed by Aura/MLS satellite and Esrange lidar measurements. The balloon-borne NLC measurements were accompanied by ground-based lidar and radar measurements. The latter have registered Polar Mesosphere Summer Echoes (PMSE) in the same volume of the summer mesopause along with NLC observed from the stratosphere that has been performed for the first time above northern Scandinavia. We describe the technique and method of the NLC observation from the stratosphere as well as present the first scientific results of the SONC experiment.
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| 3. |
- Müller, Martina, et al.
(författare)
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Hard x-ray photoelectron spectroscopy of tunable oxide interfaces
- 2022
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Ingår i: Journal of Vacuum Science & Technology. A. Vacuum, Surfaces, and Films. - : American Vacuum Society. - 0734-2101 .- 1520-8559. ; 40:1
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Tidskriftsartikel (refereegranskat)abstract
- The tunability of the oxygen content in complex oxides and heterostructures has emerged as a key to designing their physical functionalities. Controlling the interface reactivity by redox reactions provides a powerful means to deliberately set distinct oxide phases and emerging properties. We present routes on how to control oxygen-driven redox mechanisms in ultrathin ferro(i)magnetic and ferroelectric oxide films and across oxide interfaces. We address the growth and control of metastable EuO oxide phases, the control of phase transitions of binary Fe oxides by oxygen migration, the in operando determination of NiFe2O4/SrTiO3 interface band alignments, as well as the role of interfacial oxide exchange in ferroelectric HfO 2-based capacitors-uncovered by the unique capabilities of photoelectron spectroscopy and, in particular, using hard x-rays.
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