| 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. |
|
|
| 3. |
-
The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
- 2022
-
Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
-
Tidskriftsartikel (refereegranskat)abstract
- This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
|
|
| 4. |
- Dalmasso, MC, et al.
(författare)
-
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
- 2019
-
Ingår i: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 9:1, s. 55-
-
Tidskriftsartikel (refereegranskat)abstract
- Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer’s disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
|
|
| 5. |
- Alberts, D., et al.
(författare)
-
In-depth profile analysis of filled alumina and titania nanostructured templates by radiofrequency glow discharge coupled to optical emission spectrometry
- 2010
-
Ingår i: Analytical and Bioanalytical Chemistry. - : Springer Science and Business Media LLC. - 1618-2642 .- 1618-2650. ; 396:8, s. 2833-2840
-
Tidskriftsartikel (refereegranskat)abstract
- The development of highly ordered and self-assembled magnetic nanostructures such as arrays of Fe or Ni nanowires and their alloys is arousing increasing interest due to the peculiar magnetic properties of such materials at the nanoscale. These nanostructures can be fabricated using nanoporous anodic alumina membranes or self-assembled nanotubular titanium dioxide as templates. The chemical characterization of the nanostructured layers is of great importance to assist the optimization of the filling procedure or to determine their manufacturing quality. Radiofrequency glow discharge (RF-GD) coupled to optical emission spectrometry (OES) is a powerful tool for the direct analysis of either conducting or insulating materials and to carry out depth profile analysis of thin layers by multi-matrix calibration procedures. Thus, the capability of RF-GD-OES is investigated here for the in-depth quantitative analysis of self-aligned titania nanotubes and self-ordered nanoporous alumina filled with arrays of metallic and magnetic nanowires obtained using the template-assisted filling method. The samples analysed in this work consisted of arrays of Ni nanowires with different lengths (from 1.2 up to 5 μm) and multilayer nanowires of alternating layers with different thicknesses (of 1-2 μm) of Ni and Au, or Au and FeNi alloy, deposited inside the alumina and titania membranes. Results, compared with other techniques such as scanning electron microscopy and energy-dispersive X-ray spectroscopy, show that the RF-GD-OES surface analysis technique proves to be adequate and promising for this challenging application. © 2009 Springer-Verlag.
|
|
| 6. |
- Blanton, Michael R., et al.
(författare)
-
Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
- 2017
-
Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
-
Tidskriftsartikel (refereegranskat)abstract
- We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
|
|
| 7. |
- Johansson, Daniel, 1980, et al.
(författare)
-
Molecular gas and dust in the highly magnified z similar to 2.8 galaxy behind the Bullet Cluster
- 2012
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 543, s. Article Number: A62 (pp. 1-10)
-
Tidskriftsartikel (refereegranskat)abstract
- Context. The gravitational magnification provided by massive galaxy clusters makes it possible to probe the physical conditions in distant galaxies that are of lower luminosity than those in blank fields and likely more representative of the bulk of the high-redshift galaxy population. Aims. We aim to constrain the basic properties of molecular gas in a strongly magnified submm galaxy located behind the massive Bullet Cluster (1E 0657-56). This galaxy (SMM J0658) is split into three images, with a total magnification factor of almost 100. Methods. We used the Australia Telescope Compact Array (ATCA) to search for (CO)-C-12(1-0) and (CO)-C-12(3-2) line emission from SMM J0658. We also used the SABOCA bolometer camera on the Atacama Pathfinder EXperiment (APEX) telescope to measure the continuum emission at 350 mu m. Results. CO(1-0) and CO(3-2) are detected at 6.8 sigma and 7.5 sigma significance when the spectra toward the two brightest images of the galaxy are combined. From the CO(1-0) luminosity we derive a mass of cold molecular gas of (1.8 +/- 0.3) x 10(9) M-circle dot, using the CO to H-2 conversion factor commonly used for luminous infrared galaxies. This is 45 +/- 25% of the stellar mass. From the width of the CO lines we derive a dynamical mass within the CO-emitting region L of (1.3 +/- 0.4) x 10(10)(L/1 kpc) M-circle dot. We refine the redshift determination of SMM J0658 to z = 2.7793 +/- 0.0003. The CO(3-2) to CO(1-0) brightness temperature ratio is 0.56(-0.15)(+0.21), which is similar to the values found in other star-forming galaxies. Continuum emission at 350 mu m from SMM J0658 was detected with SABOCA at a signal-to-noise ratio of 3.6. The flux density is consistent with previous measurements at the same wavelength by the Herschel satellite and BLAST balloon-borne telescope. We study the spectral energy distribution of SMM J0658 and derive a dust temperature of 33 +/- 5 K and a dust mass of 1.1(-0.3)(+0.8) x 10(7) M-circle dot. Conclusions. SMM J0658 is one of the least massive submm galaxies discovered so far. As a likely representative of the bulk of the submm galaxy population, it is a prime target for future observations.
|
|
