| 1. |
- de Rojas, I., et al.
(författare)
-
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
- 2021
-
Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
-
Tidskriftsartikel (refereegranskat)abstract
- Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer’s disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer’s disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer’s disease. © 2021, The Author(s).
|
|
| 2. |
- Barucca, G., et al.
(författare)
-
The potential of Λ and Ξ- studies with PANDA at FAIR
- 2021
-
Ingår i: European Physical Journal A. - : Springer Nature. - 1434-6001 .- 1434-601X. ; 57:4
-
Tidskriftsartikel (refereegranskat)abstract
- The antiproton experiment PANDA at FAIR is designed to bring hadron physics to a new level in terms of scope, precision and accuracy. In this work, its unique capability for studies of hyperons is outlined. We discuss ground-state hyperons as diagnostic tools to study non-perturbative aspects of the strong interaction, and fundamental symmetries. New simulation studies have been carried out for two benchmark hyperon-antihyperon production channels: p¯ p→ Λ¯ Λ and p¯ p→ Ξ¯ +Ξ-. The results, presented in detail in this paper, show that hyperon-antihyperon pairs from these reactions can be exclusively reconstructed with high efficiency and very low background contamination. In addition, the polarisation and spin correlations have been studied, exploiting the weak, self-analysing decay of hyperons and antihyperons. Two independent approaches to the finite efficiency have been applied and evaluated: one standard multidimensional efficiency correction approach, and one efficiency independent approach. The applicability of the latter was thoroughly evaluated for all channels, beam momenta and observables. The standard method yields good results in all cases, and shows that spin observables can be studied with high precision and accuracy already in the first phase of data taking with PANDA.
|
|
| 3. |
- Barucca, G., et al.
(författare)
-
Study of excited Ξ baryons with the P¯ ANDA detector
- 2021
-
Ingår i: European Physical Journal A. - : Springer Nature. - 1434-6001 .- 1434-601X. ; 57:4
-
Tidskriftsartikel (refereegranskat)abstract
- The study of baryon excitation spectra provides insight into the inner structure of baryons. So far, most of the world-wide efforts have been directed towards N∗ and Δ spectroscopy. Nevertheless, the study of the double and triple strange baryon spectrum provides independent information to the N∗ and Δ spectra. The future antiproton experiment P¯ANDA will provide direct access to final states containing a Ξ¯ Ξ pair, for which production cross sections up to μb are expected in p¯p reactions. With a luminosity of L= 10 31 cm- 2 s- 1 in the first phase of the experiment, the expected cross sections correspond to a production rate of ∼106events/day. With a nearly 4 π detector acceptance, P¯ANDA will thus be a hyperon factory. In this study, reactions of the type p¯p → Ξ¯ +Ξ∗ - as well as p¯p → Ξ¯ ∗ +Ξ- with various decay modes are investigated. For the exclusive reconstruction of the signal events a full decay tree fit is used, resulting in reconstruction efficiencies between 3 and 5%. This allows high statistics data to be collected within a few weeks of data taking.
|
|
| 4. |
- Bellenguez, C, et al.
(författare)
-
New insights into the genetic etiology of Alzheimer's disease and related dementias
- 2022
-
Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:4, s. 412-436
-
Tidskriftsartikel (refereegranskat)abstract
- Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele.
|
|
| 5. |
- Ajello, M., et al.
(författare)
-
Gamma Rays from Fast Black-hole Winds
- 2021
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 921:2
-
Tidskriftsartikel (refereegranskat)abstract
- Massive black holes at the centers of galaxies can launch powerful wide-angle winds that, if sustained over time, can unbind the gas from the stellar bulges of galaxies. These winds may be responsible for the observed scaling relation between the masses of the central black holes and the velocity dispersion of stars in galactic bulges. Propagating through the galaxy, the wind should interact with the interstellar medium creating a strong shock, similar to those observed in supernovae explosions, which is able to accelerate charged particles to high energies. In this work we use data from the Fermi Large Area Telescope to search for the gamma-ray emission from galaxies with an ultrafast outflow (UFO): a fast (v similar to 0.1 c), highly ionized outflow, detected in absorption at hard X-rays in several nearby active galactic nuclei (AGN). Adopting a sensitive stacking analysis we are able to detect the average gamma-ray emission from these galaxies and exclude that it is due to processes other than UFOs. Moreover, our analysis shows that the gamma-ray luminosity scales with the AGN bolometric luminosity and that these outflows transfer similar to 0.04% of their mechanical power to gamma-rays. Interpreting the observed gamma-ray emission as produced by cosmic rays (CRs) accelerated at the shock front, we find that the gamma-ray emission may attest to the onset of the wind-host interaction and that these outflows can energize charged particles up to the transition region between galactic and extragalactic CRs.
|
|
| 6. |
- Menkveld, Albert J., et al.
(författare)
-
Nonstandard Errors
- 2024
-
Ingår i: JOURNAL OF FINANCE. - : Wiley-Blackwell. - 0022-1082 .- 1540-6261. ; 79:3, s. 2339-2390
-
Tidskriftsartikel (refereegranskat)abstract
- In statistics, samples are drawn from a population in a data-generating process (DGP). Standard errors measure the uncertainty in estimates of population parameters. In science, evidence is generated to test hypotheses in an evidence-generating process (EGP). We claim that EGP variation across researchers adds uncertainty-nonstandard errors (NSEs). We study NSEs by letting 164 teams test the same hypotheses on the same data. NSEs turn out to be sizable, but smaller for more reproducible or higher rated research. Adding peer-review stages reduces NSEs. We further find that this type of uncertainty is underestimated by participants.
|
|
| 7. |
- Schady, P., et al.
(författare)
-
Comparing emission- and absorption-based gas-phase metallicities in GRB host galaxies at z =2-4 using JWST
- 2024
-
Ingår i: Monthly notices of the Royal Astronomical Society. - 0035-8711 .- 1365-2966. ; 529:3, s. 2807-2831
-
Tidskriftsartikel (refereegranskat)abstract
- Much of what is known of the chemical composition of the universe is based on emission line spectra from star-forming galaxies. Emission-based inferences are, nevertheless, model-dependent and they are dominated by light from luminous star-forming regions. An alternative and sensitive probe of the metallicity of galaxies is through absorption lines imprinted on the luminous afterglow spectra of long gamma ray bursts (GRBs) from neutral material within their host galaxy. We present results from a JWST/NIRSpec programme to investigate for the first time the relation between the metallicity of neutral gas probed in absorption by GRB afterglows and the metallicity of the star-forming regions for the same host galaxy sample. Using an initial sample of eight GRB host galaxies at z = 2.1–4.7, we find a tight relation between absorption and emission line metallicities when using the recently proposed ?^ metallicity diagnostic (±0.2 dex). This agreement implies a relatively chemically homogeneous multiphase interstellar medium and indicates that absorption and emission line probes can be directly compared. However, the relation is less clear when using other diagnostics, such as R23 and R3. We also find possible evidence of an elevated N/O ratio in the host galaxy of GRB 090323 at z = 4.7, consistent with what has been seen in other z > 4 galaxies. Ultimate confirmation of an enhanced N/O ratio and of the relation between absorption and emission line metallicities will require a more direct determination of the emission line metallicity via the detection of temperature-sensitive auroral lines in our GRB host galaxy sample.
|
|
| 8. |
|
|
| 9. |
- Usher, Christopher, et al.
(författare)
-
Rubin Observatory LSST Stars Milky Way and Local Volume Star Clusters Roadmap
- 2023
-
Ingår i: Publications of the Astronomical Society of the Pacific. - 0004-6280 .- 1538-3873. ; 135:1049
-
Tidskriftsartikel (refereegranskat)abstract
- The Vera C. Rubin Observatory will undertake the Legacy Survey of Space and Time, providing an unprecedented, volume-limited catalog of star clusters in the Southern Sky, including Galactic and extragalactic star clusters. The Star Clusters subgroup of the Stars, Milky Way and Local Volume Working Group has identified key areas where Rubin Observatory will enable significant progress in star cluster research. This roadmap represents our science cases and preparation for studies of all kinds of star clusters from the Milky Way out to distances of tens of megaparsecs.
|
|
| 10. |
- Ament-Velásquez, Sandra Lorena, Ph.D. 1988-, et al.
(författare)
-
High-Quality Genome Assemblies of 4 Members of the Podospora anserina Species Complex
- 2024
-
Ingår i: Genome Biology and Evolution. - : Oxford University Press. - 1759-6653. ; 16:3
-
Tidskriftsartikel (refereegranskat)abstract
- The filamentous fungus Podospora anserina is a model organism used extensively in the study of molecular biology, senescence, prion biology, meiotic drive, mating-type chromosome evolution, and plant biomass degradation. It has recently been established that P. anserina is a member of a complex of 7 closely related species. In addition to P. anserina, high-quality genomic resources are available for 2 of these taxa. Here, we provide chromosome-level annotated assemblies of the 4 remaining species of the complex, as well as a comprehensive data set of annotated assemblies from a total of 28 Podospora genomes. We find that all 7 species have genomes of around 35 Mb arranged in 7 chromosomes that are mostly collinear and less than 2% divergent from each other at genic regions. We further attempt to resolve their phylogenetic relationships, finding significant levels of phylogenetic conflict as expected from a rapid and recent diversification.
|
|
