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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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- Larsson, Andreas, et al.
(författare)
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Modelling of Carbon Nanotube Catalytic Growth
- 2008
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Konferensbidrag (refereegranskat)abstract
- Carbon nanotubes (CNTs) have; due to their remarkable mechanical; electronic and thermal properties; many suggested uses; and have even been demonstrated as interconnects and nano-transistors in laboratory built devices [1-4]. The reason CNTs are not yet incorporated into electronics is due to growth control and placement issues. With present day state-of-the-art techniques it is not possible to grow CNTs with only one property (i.e. either all metallic or all semiconducting); which presents the first and principal hurdle for the utilisation of CNTs in semiconductor industry. It is; however; possible to grow CNTs of a certain type (multi-walled; double-walled; or single walled); within a rather narrow diameter distribution. It is also well understood how the orientation of the honey-comb structure relative to the CNT axis determines the property of the CNT itself. The problem lies in realizing growth of CNTs with control over this internal graphene structuring. We have performed first-principles calculations of how single-walled carbon nanotubes (SWNTs) bond with different metal nanoparticles explaining why the traditional catalysts (Fe; Co; Ni) are more successful than other metals (Cu; Pd; Au) [5]; and how this realization relates to new nanocomposite catalyst particles (Cu/Mo) [6]. We will present our contribution to understanding the mechanism of catalytic CNT growth; since it is only through better knowledge that property-controlled growth of CNTs can be achieved
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- Macfarlane, N. B. W., et al.
(författare)
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Direct and indirect impacts of synthetic biology on biodiversity conservation
- 2022
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Ingår i: iScience. - : Elsevier BV. - 2589-0042. ; 25:11
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Tidskriftsartikel (refereegranskat)abstract
- The world's biodiversity is in crisis. Synthetic biology has the potential to transform biodiversity conservation, both directly and indirectly, in ways that are negative and positive. However, applying these biotechnology tools to environmental questions is fraught with uncertainty and could harm cultures, rights, livelihoods, and nature. Decisions about whether or not to use synthetic biology for conservation should be understood alongside the reality of ongoing biodiversity loss. In 2022, the 196 Parties to the United Nations Convention on Biological Diversity are negotiating the post-2020 Global Biodiversity Framework that will guide action by governments and other stakeholders for the next decade to conserve the worlds' biodiversity. To date, synthetic biologists, conservationists, and policy makers have operated in isolation. At this critical time, this review brings these diverse perspectives together and emerges out of the need for a balanced and inclusive examination of the potential application of these technologies to biodiversity conservation.
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