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| 2. |
- Aragam, KG, et al.
(författare)
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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:12, s. 1803-1815
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Tidskriftsartikel (refereegranskat)abstract
- The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR–Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.
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| 3. |
- Aragam, KG, et al.
(författare)
-
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
- 2022
-
Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:12, s. 1803-1815
-
Tidskriftsartikel (refereegranskat)abstract
- The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular cell migration and proliferation in the pathogenesis of CAD. We prioritized 220 candidate causal genes, combining eight complementary approaches, including 123 supported by three or more approaches. Using CRISPR–Cas9, we experimentally validated the effect of an enhancer in MYO9B, which appears to mediate CAD risk by regulating vascular cell motility. Our analysis identifies and systematically characterizes >250 risk loci for CAD to inform experimental interrogation of putative causal mechanisms for CAD.
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| 4. |
- Knapek, C. A., et al.
(författare)
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COMPACT-a new complex plasma facility for the ISS
- 2022
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Ingår i: Plasma Physics and Controlled Fusion. - : Institute of Physics (IOP). - 0741-3335 .- 1361-6587. ; 64:12
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Tidskriftsartikel (refereegranskat)abstract
- Complex plasma is a state of soft matter where micrometer-sized particles are immersed in a weakly ionized gas. The particles acquire negative charges of the order of several thousand elementary charges in the plasma, and they can form gaseous, liquid and crystalline states. Direct optical observation of individual particles allows to study their dynamics on the kinetic level even in large many-particle systems. Gravity is the dominant force in ground-based experiments, restricting the research to vertically compressed, inhomogeneous clouds, or two-dimensional systems, and masking dynamical processes mediated by weaker forces. An environment with reduced gravity, such as provided on the International Space Station (ISS), is therefore essential to overcome this limitations. We will present the research goals for the next generation complex plasma facility COMPACT to be operated onboard the ISS. COMPACT is envisaged as an international multi-purpose and multi-user facility that gives access to the full three-dimensional kinetic properties of the particles.
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| 5. |
- Annibaldi, S. V., et al.
(författare)
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Dust-acoustic dispersion relation in three-dimensional complex plasmas under microgravity
- 2007
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Ingår i: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- A series of dedicated experiments with the Plasma Kristal Experiment ( PKE)-Nefedov ( Nefedov et al 2003 New J. Phys. 5 33) set-up were performed on board the International Space Station to measure the dispersion relation ( DR) for the longitudinal dust-acoustic ( DA) waves in quasi-isotropic three-dimensional ( 3D) complex plasmas. The waves were excited by applying ac electric modulation of variable frequency to the radio frequency ( rf) electrodes. The amplitude of excitation was varied with frequency to ensure a 'sufficiently linear' regime of the dust density perturbations. The DR was obtained by measuring the induced density perturbations, revealing fairly good agreement with a simple multispecies theory of DA waves.
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| 6. |
- Schroeder, H., et al.
(författare)
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Unraveling ancestry, kinship, and violence in a Late Neolithic mass grave
- 2019
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Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424. ; 116:22, s. 10705-10710
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Tidskriftsartikel (refereegranskat)abstract
- The third millennium BCE was a period of major cultural and demographic changes in Europe that signaled the beginning of the Bronze Age. People from the Pontic steppe expanded westward, leading to the formation of the Corded Ware complex and transforming the genetic landscape of Europe. At the time, the Globular Amphora culture (3300-2700 BCE) existed over large parts of Central and Eastern Europe, but little is known about their interaction with neighboring Corded Ware groups and steppe societies. Here we present a detailed study of a Late Neolithic mass grave from southern Poland belonging to the Globular Amphora culture and containing the remains of 15 men, women, and children, all killed by blows to the head. We sequenced their genomes to between 1.1- and 3.9-fold coverage and performed kinship analyses that demonstrate that the individuals belonged to a large extended family. The bodies had been carefully laid out according to kin relationships by someone who evidently knew the deceased. From a population genetic viewpoint, the people from Koszyce are clearly distinct from neighboring Corded Ware groups because of their lack of steppe-related ancestry. Although the reason for the massacre is unknown, it is possible that it was connected with the expansion of Corded Ware groups, which may have resulted in competition for resources and violent conflict. Together with the archaeological evidence, these analyses provide an unprecedented level of insight into the kinship structure and social behavior of a Late Neolithic community.
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