| 1. |
- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 2. |
- Tabassum, R, et al.
(författare)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Tidskriftsartikel (refereegranskat)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
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| 4. |
- Jucker, Tommaso, et al.
(författare)
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Tallo: A global tree allometry and crown architecture database
- 2022
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Ingår i: Global Change Biology. - : Wiley. - 1354-1013 .- 1365-2486. ; 28:17, s. 5254-5268
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Tidskriftsartikel (refereegranskat)abstract
- Data capturing multiple axes of tree size and shape, such as a tree's stem diameter, height and crown size, underpin a wide range of ecological research—from developing and testing theory on forest structure and dynamics, to estimating forest carbon stocks and their uncertainties, and integrating remote sensing imagery into forest monitoring programmes. However, these data can be surprisingly hard to come by, particularly for certain regions of the world and for specific taxonomic groups, posing a real barrier to progress in these fields.To overcome this challenge, we developed the Tallo database, a collection of 498,838 georeferenced and taxonomically standardized records of individual trees for which stem diameter, height and/or crown radius have been measured. These data were collected at 61,856 globally distributed sites, spanning all major forested and non-forested biomes. The majority of trees in the database are identified to species (88%), and collectively Tallo includes data for 5163 species distributed across 1453 genera and 187 plant families. The database is publicly archived under a CC-BY 4.0 licence and can be access from: https://doi.org/10.5281/zenodo.6637599.To demonstrate its value, here we present three case studies that highlight how the Tallo database can be used to address a range of theoretical and applied questions in ecology—from testing the predictions of metabolic scaling theory, to exploring the limits of tree allometric plasticity along environmental gradients and modelling global variation in maximum attainable tree height. In doing so, we provide a key resource for field ecologists, remote sensing researchers and the modelling community working together to better understand the role that trees play in regulating the terrestrial carbon cycle.
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| 5. |
- Minzioni, Paolo, et al.
(författare)
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Roadmap on all-optical processing
- 2019
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Ingår i: Journal of Optics. - : IOP Publishing. - 2040-8978 .- 2040-8986. ; 21:6
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Tidskriftsartikel (refereegranskat)abstract
- The ability to process optical signals without passing into the electrical domain has always attracted the attention of the research community. Processing photons by photons unfolds new scenarios, in principle allowing for unseen signal processing and computing capabilities. Optical computation can be seen as a large scientific field in which researchers operate, trying to find solutions to their specific needs by different approaches; although the challenges can be substantially different, they are typically addressed using knowledge and technological platforms that are shared across the whole field. This significant know-how can also benefit other scientific communities, providing lateral solutions to their problems, as well as leading to novel applications. The aim of this Roadmap is to provide a broad view of the state-of-the-art in this lively scientific research field and to discuss the advances required to tackle emerging challenges, thanks to contributions authored by experts affiliated to both academic institutions and high-tech industries. The Roadmap is organized so as to put side by side contributions on different aspects of optical processing, aiming to enhance the cross-contamination of ideas between scientists working in three different fields of photonics: optical gates and logical units, high bit-rate signal processing and optical quantum computing. The ultimate intent of this paper is to provide guidance for young scientists as well as providing research-funding institutions and stake holders with a comprehensive overview of perspectives and opportunities offered by this research field.
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| 6. |
- Lee, James J, et al.
(författare)
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Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
- 2018
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 50:8, s. 1112-1121
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Tidskriftsartikel (refereegranskat)abstract
- Here we conducted a large-scale genetic association analysis of educational attainment in a sample of approximately 1.1million individuals and identify 1,271independent genome-wide-significant SNPs. For the SNPs taken together, we found evidence of heterogeneous effects across environments. The SNPs implicate genes involved in brain-development processes and neuron-to-neuron communication. In a separate analysis of the X chromosome, we identify 10independent genome-wide-significant SNPs and estimate a SNP heritability of around 0.3% in both men and women, consistent with partial dosage compensation. A joint (multi-phenotype) analysis of educational attainment and three related cognitive phenotypes generates polygenic scores that explain 11-13% of the variance in educational attainment and 7-10% of the variance in cognitive performance. This prediction accuracy substantially increases the utility of polygenic scores as tools in research.
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| 7. |
- Müller, T D, et al.
(författare)
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Ghrelin.
- 2015
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Ingår i: Molecular metabolism. - : Elsevier BV. - 2212-8778. ; 4:6, s. 437-60
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Tidskriftsartikel (refereegranskat)abstract
- The gastrointestinal peptide hormone ghrelin was discovered in 1999 as the endogenous ligand of the growth hormone secretagogue receptor. Increasing evidence supports more complicated and nuanced roles for the hormone, which go beyond the regulation of systemic energy metabolism.
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| 8. |
- Svoboda, B. E., et al.
(författare)
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THE BOLOCAM GALACTIC PLANE SURVEY. XIV. PHYSICAL PROPERTIES of MASSIVE STARLESS and STAR-FORMING CLUMPS
- 2016
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 822:2
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Tidskriftsartikel (refereegranskat)abstract
- We sort 4683 molecular clouds between 10° < ℓ < 65° from the Bolocam Galactic Plane Survey based on observational diagnostics of star formation activity: compact 70 μm sources, mid-IR color-selected YSOs, H2O and CH3OH masers, and UCH ii regions. We also present a combined NH3-derived gas kinetic temperature and H2O maser catalog for 1788 clumps from our own GBT 100 m observations and from the literature. We identify a subsample of 2223 (47.5%) starless clump candidates (SCCs), the largest and most robust sample identified from a blind survey to date. Distributions of flux density, flux concentration, solid angle, kinetic temperature, column density, radius, and mass show strong (>1 dex) progressions when sorted by star formation indicator. The median SCC is marginally subvirial (α ∼ 0.7) with >75% of clumps with known distance being gravitationally bound (α < 2). These samples show a statistically significant increase in the median clump mass of ΔM ∼ 170-370 M o from the starless candidates to clumps associated with protostars. This trend could be due to (i) mass growth of the clumps at M o Myr-1 for an average freefall 0.8 Myr timescale, (ii) a systematic factor of two increase in dust opacity from starless to protostellar phases, and/or (iii) a variation in the ratio of starless to protostellar clump lifetime that scales as ∼M -0.4. By comparing to the observed number of CH3OH maser containing clumps, we estimate the phase lifetime of massive (M > 103 M o) starless clumps to be 0.37 ± 0.08 Myr (M/103 M o)-1; the majority (M < 450 M o) have phase lifetimes longer than their average freefall time. © 2016. The American Astronomical Society. All rights reserved.
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| 9. |
- Kataria, Himanshu, et al.
(författare)
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High quality large area ELOG InP on silicon for photonic integration using conventional optical lithography
- 2014
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Ingår i: SMART PHOTONIC AND OPTOELECTRONIC INTEGRATED CIRCUITS XVI. - : SPIE. - 9780819499028 ; , s. 898904-
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Konferensbidrag (refereegranskat)abstract
- A simple method of growing large areas of InP on Si through Epitaxial Lateral Overgrowth (ELOG) is presented. Isolated areas of high quality InP suitable for photonic integration are grown in deeply etched SiO2 mask fabricated using conventional optical lithography and reactive ion etching. This method is particularly attractive for monolithically integrating laser sources grown on InP with Si/SiO2 waveguide structure as the mask. The high optical quality of multi quantum well (MQW) layers grown on the ELOG layer is promisingly supportive of the feasibility of this method for mass production.
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| 10. |
- Kataria, Himanshu, et al.
(författare)
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Simple Epitaxial Lateral Overgrowth Process as a Strategy for Photonic Integration on Silicon
- 2014
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Ingår i: IEEE Journal of Selected Topics in Quantum Electronics. - 1077-260X .- 1558-4542. ; 20:4, s. 8201407-
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Tidskriftsartikel (refereegranskat)abstract
- In this paper we propose a strategy to achieve monolithic integration of III-Vs on Si for photonic integration through a simple process. By mimicking the SiO2/Si/SiO2 waveguide necessary to couple light from the gain medium on its top, we adopt a similar to 2 mu m thick silicon dioxide mask for epitaxial lateral overgrowth (ELOG) of InP on Si. The ELOG InP layer as wells as the subsequently grown quantum wells (similar to 1. 55 mu m) have been analyzed by photoluminescence and transmission electron microscopy and found to have high optical quality and very good interface. The studies are strategically important for a monolithic platform that holds great potential in addressing the future need to have an integrated platform consisting of both III-Vs and Si on same chip.
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