| 1. |
- Kattge, Jens, et al.
(författare)
-
TRY plant trait database - enhanced coverage and open access
- 2020
-
Ingår i: Global Change Biology. - : Wiley-Blackwell. - 1354-1013 .- 1365-2486. ; 26:1, s. 119-188
-
Tidskriftsartikel (refereegranskat)abstract
- Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.
|
|
| 2. |
- Aad, G, et al.
(författare)
-
- 2015
-
swepub:Mat__t
|
|
| 3. |
- Bras, Jose, et al.
(författare)
-
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.
- 2014
-
Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 23:23, s. 6139-6146
-
Tidskriftsartikel (refereegranskat)abstract
- Clinical and neuropathological similarities between dementia with Lewy bodies (DLB), Parkinson's and Alzheimer's diseases (PD and AD, respectively) suggest that these disorders may share etiology. To test this hypothesis, we have performed an association study of 54 genomic regions, previously implicated in PD or AD, in a large cohort of DLB cases and controls. The cohort comprised 788 DLB cases and 2624 controls. To minimize the issue of potential misdiagnosis, we have also performed the analysis including only neuropathologically proven DLB cases (667 cases). The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease. These results indicate that DLB has a unique genetic risk profile when compared with the two most common neurodegenerative diseases and that the lysosome may play an important role in the etiology of this disorder. We make all these data available.
|
|
| 4. |
- Dewan, Ramita, et al.
(författare)
-
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
- 2021
-
Ingår i: Neuron. - : Elsevier BV. - 1097-4199 .- 0896-6273. ; 109:3
-
Tidskriftsartikel (refereegranskat)abstract
- We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
|
|
| 5. |
- El Omari, Kamel, et al.
(författare)
-
Experimental phasing opportunities for macromolecular crystallography at very long wavelengths
- 2023
-
Ingår i: Communications Chemistry. - : Nature Publishing Group. - 2399-3669. ; 6:1
-
Tidskriftsartikel (refereegranskat)abstract
- Despite recent advances in cryo-electron microscopy and artificial intelligence-based model predictions, a significant fraction of structure determinations by macromolecular crystallography still requires experimental phasing, usually by means of single-wavelength anomalous diffraction (SAD) techniques. Most synchrotron beamlines provide highly brilliant beams of X-rays of between 0.7 and 2 Å wavelength. Use of longer wavelengths to access the absorption edges of biologically important lighter atoms such as calcium, potassium, chlorine, sulfur and phosphorus for native-SAD phasing is attractive but technically highly challenging. The long-wavelength beamline I23 at Diamond Light Source overcomes these limitations and extends the accessible wavelength range to λ = 5.9 Å. Here we report 22 macromolecular structures solved in this extended wavelength range, using anomalous scattering from a range of elements which demonstrate the routine feasibility of lighter atom phasing. We suggest that, in light of its advantages, long-wavelength crystallography is a compelling option for experimental phasing.
|
|
| 6. |
- El-Sayed, Najib M., et al.
(författare)
-
The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease.
- 2005
-
Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 309:5733, s. 409-15
-
Tidskriftsartikel (refereegranskat)abstract
- Whole-genome sequencing of the protozoan pathogen Trypanosoma cruzi revealed that the diploid genome contains a predicted 22,570 proteins encoded by genes, of which 12,570 represent allelic pairs. Over 50% of the genome consists of repeated sequences, such as retrotransposons and genes for large families of surface molecules, which include trans-sialidases, mucins, gp63s, and a large novel family (>1300 copies) of mucin-associated surface protein (MASP) genes. Analyses of the T. cruzi, T. brucei, and Leishmania major (Tritryp) genomes imply differences from other eukaryotes in DNA repair and initiation of replication and reflect their unusual mitochondrial DNA. Although the Tritryp lack several classes of signaling molecules, their kinomes contain a large and diverse set of protein kinases and phosphatases; their size and diversity imply previously unknown interactions and regulatory processes, which may be targets for intervention.
|
|
| 7. |
|
|
| 8. |
- Falster, Daniel, et al.
(författare)
-
AusTraits, a curated plant trait database for the Australian flora
- 2021
-
Ingår i: Scientific Data. - : Nature Portfolio. - 2052-4463. ; 8:1
-
Tidskriftsartikel (refereegranskat)abstract
- We introduce the AusTraits database - a compilation of values of plant traits for taxa in the Australian flora (hereafter AusTraits). AusTraits synthesises data on 448 traits across 28,640 taxa from field campaigns, published literature, taxonomic monographs, and individual taxon descriptions. Traits vary in scope from physiological measures of performance (e.g. photosynthetic gas exchange, water-use efficiency) to morphological attributes (e.g. leaf area, seed mass, plant height) which link to aspects of ecological variation. AusTraits contains curated and harmonised individual- and species-level measurements coupled to, where available, contextual information on site properties and experimental conditions. This article provides information on version 3.0.2 of AusTraits which contains data for 997,808 trait-by-taxon combinations. We envision AusTraits as an ongoing collaborative initiative for easily archiving and sharing trait data, which also provides a template for other national or regional initiatives globally to fill persistent gaps in trait knowledge.
|
|
| 9. |
- Field, Dawn, et al.
(författare)
-
The minimum information about a genome sequence (MIGS) specification.
- 2008
-
Ingår i: Nature biotechnology. - : Springer Science and Business Media LLC. - 1546-1696 .- 1087-0156. ; 26:5, s. 541-7
-
Tidskriftsartikel (refereegranskat)abstract
- With the quantity of genomic data increasing at an exponential rate, it is imperative that these data be captured electronically, in a standard format. Standardization activities must proceed within the auspices of open-access and international working bodies. To tackle the issues surrounding the development of better descriptions of genomic investigations, we have formed the Genomic Standards Consortium (GSC). Here, we introduce the minimum information about a genome sequence (MIGS) specification with the intent of promoting participation in its development and discussing the resources that will be required to develop improved mechanisms of metadata capture and exchange. As part of its wider goals, the GSC also supports improving the 'transparency' of the information contained in existing genomic databases.
|
|
| 10. |
- Folke, Carl, et al.
(författare)
-
Our future in the Anthropocene biosphere
- 2021
-
Ingår i: Ambio. - : Springer Science and Business Media LLC. - 0044-7447 .- 1654-7209. ; 50:4, s. 834-869
-
Tidskriftsartikel (refereegranskat)abstract
- The COVID-19 pandemic has exposed an interconnected and tightly coupled globalized world in rapid change. This article sets the scientific stage for understanding and responding to such change for global sustainability and resilient societies. We provide a systemic overview of the current situation where people and nature are dynamically intertwined and embedded in the biosphere, placing shocks and extreme events as part of this dynamic; humanity has become the major force in shaping the future of the Earth system as a whole; and the scale and pace of the human dimension have caused climate change, rapid loss of biodiversity, growing inequalities, and loss of resilience to deal with uncertainty and surprise. Taken together, human actions are challenging the biosphere foundation for a prosperous development of civilizations. The Anthropocene reality-of rising system-wide turbulence-calls for transformative change towards sustainable futures. Emerging technologies, social innovations, broader shifts in cultural repertoires, as well as a diverse portfolio of active stewardship of human actions in support of a resilient biosphere are highlighted as essential parts of such transformations.
|
|
| 11. |
- Guerreiro, Rita, et al.
(författare)
-
Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.
- 2016
-
Ingår i: Neurobiology of Aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 38, s. 7-214
-
Tidskriftsartikel (refereegranskat)abstract
- The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD.
|
|
| 12. |
- Justice, Anne E., et al.
(författare)
-
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
- 2019
-
Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 51:3, s. 452-469
-
Tidskriftsartikel (refereegranskat)abstract
- Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF >= 5%) and nine low-frequency or rare (MAF < 5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants.
|
|
| 13. |
- Kun-Rodrigues, Celia, et al.
(författare)
-
A comprehensive screening of copy number variability in dementia with Lewy bodies.
- 2019
-
Ingår i: Neurobiology of aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 75
-
Tidskriftsartikel (refereegranskat)abstract
- The role of genetic variability in dementia with Lewy bodies (DLB) is now indisputable; however, data regarding copy number variation (CNV) in this disease has been lacking. Here, we used whole-genome genotyping of 1454 DLB cases and 1525 controls to assess copy number variability. We used 2 algorithms to confidently detect CNVs, performed a case-control association analysis, screened for candidate CNVs previously associated with DLB-related diseases, and performed a candidate gene approach to fully explore the data. We identified 5 CNV regions with a significant genome-wide association to DLB; 2 of these were only present in cases and absent from publicly available databases: one of the regions overlapped LAPTM4B, a known lysosomal protein, whereas the other overlapped the NME1 locus and SPAG9. We also identified DLB cases presenting rare CNVs in genes previously associated with DLB or related neurodegenerative diseases, such as SNCA, APP, and MAPT. To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.
|
|
| 14. |
- Kun-Rodrigues, Celia, et al.
(författare)
-
Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies
- 2017
-
Ingår i: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 49
-
Tidskriftsartikel (refereegranskat)abstract
- . C9orf72 repeat expansions are a common cause of amyotrophic lateral sclerosis and frontotemporal dementia. To date, no large-scale study of dementia with Lewy bodies (DLB) has been undertaken to assess the role of . C9orf72 repeat expansions in the disease. Here, we investigated the prevalence of . C9orf72 repeat expansions in a large cohort of DLB cases and identified no pathogenic repeat expansions in neuropathologically or clinically defined cases, showing that . C9orf72 repeat expansions are not causally associated with DLB.
|
|
| 15. |
- McBrien, Owen R., et al.
(författare)
-
SN2018kzr : A Rapidly Declining Transient from the Destruction of a White Dwarf
- 2019
-
Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 885:1
-
Tidskriftsartikel (refereegranskat)abstract
- We present SN2018kzr, the fastest declining supernova-like transient, second only to the kilonova, AT2017gfo. SN2018kzr is characterized by a peak magnitude of M-r & xfffd;=& xfffd;?17.98, a peak bolometric luminosity of ?1.4 & xfffd;& x5e0;10(43) erg s(?1), and a rapid decline rate of 0.48 & xfffd;& xfffd;0.03 mag day(?1) in the r band. The bolometric luminosity evolves too quickly to be explained by pure Ni-56 heating, necessitating the inclusion of an alternative powering source. Incorporating the spin-down of a magnetized neutron star adequately describes the lightcurve and we estimate a small ejecta mass of M-ej & xfffd;=& xfffd;0.10 & xfffd;& xfffd;0.05 M. Our spectral modeling suggests the ejecta is composed of intermediate mass elements including O, Si, and Mg and trace amounts of Fe-peak elements, which disfavors a binary neutron star merger. We discuss three explosion scenarios for SN2018kzr, given the low ejecta mass, intermediate mass element composition, and high likelihood of additional powering?the core collapse of an ultra-stripped progenitor, the accretion induced collapse (AIC) of a white dwarf, and the merger of a white dwarf and neutron star. The requirement for an alternative input energy source favors either the AIC with magnetar powering or a white dwarf?neutron star merger with energy from disk wind shocks.
|
|
| 16. |
- Murari, A., et al.
(författare)
-
A control oriented strategy of disruption prediction to avoid the configuration collapse of tokamak reactors
- 2024
-
Ingår i: Nature Communications. - 2041-1723 .- 2041-1723. ; 15:1
-
Tidskriftsartikel (refereegranskat)abstract
- The objective of thermonuclear fusion consists of producing electricity from the coalescence of light nuclei in high temperature plasmas. The most promising route to fusion envisages the confinement of such plasmas with magnetic fields, whose most studied configuration is the tokamak. Disruptions are catastrophic collapses affecting all tokamak devices and one of the main potential showstoppers on the route to a commercial reactor. In this work we report how, deploying innovative analysis methods on thousands of JET experiments covering the isotopic compositions from hydrogen to full tritium and including the major D-T campaign, the nature of the various forms of collapse is investigated in all phases of the discharges. An original approach to proximity detection has been developed, which allows determining both the probability of and the time interval remaining before an incoming disruption, with adaptive, from scratch, real time compatible techniques. The results indicate that physics based prediction and control tools can be developed, to deploy realistic strategies of disruption avoidance and prevention, meeting the requirements of the next generation of devices.
|
|
| 17. |
- Ostaszewski, Marek, et al.
(författare)
-
COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms
- 2021
-
Ingår i: Molecular Systems Biology. - : John Wiley & Sons. - 1744-4292 .- 1744-4292. ; 17:10
-
Tidskriftsartikel (refereegranskat)abstract
- We need to effectively combine the knowledge from surging literature with complex datasets to propose mechanistic models of SARS-CoV-2 infection, improving data interpretation and predicting key targets of intervention. Here, we describe a large-scale community effort to build an open access, interoperable and computable repository of COVID-19 molecular mechanisms. The COVID-19 Disease Map (C19DMap) is a graphical, interactive representation of disease-relevant molecular mechanisms linking many knowledge sources. Notably, it is a computational resource for graph-based analyses and disease modelling. To this end, we established a framework of tools, platforms and guidelines necessary for a multifaceted community of biocurators, domain experts, bioinformaticians and computational biologists. The diagrams of the C19DMap, curated from the literature, are integrated with relevant interaction and text mining databases. We demonstrate the application of network analysis and modelling approaches by concrete examples to highlight new testable hypotheses. This framework helps to find signatures of SARS-CoV-2 predisposition, treatment response or prioritisation of drug candidates. Such an approach may help deal with new waves of COVID-19 or similar pandemics in the long-term perspective.
|
|
| 18. |
|
|
| 19. |
- Purcell, Shaun M., et al.
(författare)
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
- 2009
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 460:7256, s. 748-752
-
Tidskriftsartikel (refereegranskat)abstract
- Schizophrenia is a severe mental disorder with a lifetime risk of about 1%, characterized by hallucinations, delusions and cognitive deficits, with heritability estimated at up to 80%(1,2). We performed a genome-wide association study of 3,322 European individuals with schizophrenia and 3,587 controls. Here we show, using two analytic approaches, the extent to which common genetic variation underlies the risk of schizophrenia. First, we implicate the major histocompatibility complex. Second, we provide molecular genetic evidence for a substantial polygenic component to the risk of schizophrenia involving thousands of common alleles of very small effect. We show that this component also contributes to the risk of bipolar disorder, but not to several non-psychiatric diseases.
|
|
| 20. |
- Telloni, Daniele, et al.
(författare)
-
Evolution of Solar Wind Turbulence from 0.1 to 1 au during the First Parker Solar Probe-Solar Orbiter Radial Alignment
- 2021
-
Ingår i: Astrophysical Journal Letters. - : American Astronomical Society. - 2041-8205 .- 2041-8213. ; 912:2
-
Tidskriftsartikel (refereegranskat)abstract
- The first radial alignment between Parker Solar Probe and Solar Orbiter spacecraft is used to investigate the evolution of solar wind turbulence in the inner heliosphere. Assuming ballistic propagation, two 1.5 hr intervals are tentatively identified as providing measurements of the same plasma parcels traveling from 0.1 to 1 au. Using magnetic field measurements from both spacecraft, the properties of turbulence in the two intervals are assessed. Magnetic spectral density, flatness, and high-order moment scaling laws are calculated. The Hilbert-Huang transform is additionally used to mitigate short sample and poor stationarity effects. Results show that the plasma evolves from a highly Alfvenic, less-developed turbulence state near the Sun, to fully developed and intermittent turbulence at 1 au. These observations provide strong evidence for the radial evolution of solar wind turbulence.
|
|
| 21. |
- Trotta, Domenico, et al.
(författare)
-
Properties of an Interplanetary Shock Observed at 0.07 and 0.7 au by Parker Solar Probe and Solar Orbiter
- 2024
-
Ingår i: Astrophysical Journal. - : American Astronomical Society. - 0004-637X .- 1538-4357. ; 962:2
-
Tidskriftsartikel (refereegranskat)abstract
- The Parker Solar Probe (PSP) and Solar Orbiter (SolO) missions opened a new observational window in the inner heliosphere, which is finally accessible to direct measurements. On 2022 September 5, a coronal mass ejection (CME)-driven interplanetary (IP) shock was observed as close as 0.07 au by PSP. The CME then reached SolO, which was radially well-aligned at 0.7 au, thus providing us with the opportunity to study the shock properties at different heliocentric distances. We characterize the shock, investigate its typical parameters, and compare its small-scale features at both locations. Using the PSP observations, we investigate how magnetic switchbacks and ion cyclotron waves are processed upon shock crossing. We find that switchbacks preserve their V-B correlation while compressed upon the shock passage, and that the signature of ion cyclotron waves disappears downstream of the shock. By contrast, the SolO observations reveal a very structured shock transition, with a population of shock-accelerated protons of up to about 2 MeV, showing irregularities in the shock downstream, which we correlate with solar wind structures propagating across the shock. At SolO, we also report the presence of low-energy (similar to 100 eV) electrons scattering due to upstream shocklets. This study elucidates how the local features of IP shocks and their environments can be very different as they propagate through the heliosphere.
|
|
| 22. |
|
|
| 23. |
- Verscharen, Daniel, et al.
(författare)
-
The angular-momentum flux in the solar wind observed during Solar Orbiter's first orbit
- 2021
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 656
-
Tidskriftsartikel (refereegranskat)abstract
- Aims. We present the first measurements of the angular-momentum flux in the solar wind recorded by the Solar Orbiter spacecraft. Our aim is to validate these measurements to support future studies of the Sun's angular-momentum loss. Methods. We combined 60-min averages of the proton bulk moments and the magnetic field measured by the Solar Wind Analyser and the magnetometer onboard Solar Orbiter. We calculated the angular-momentum flux per solid-angle element using data from the first orbit of the mission's cruise phase in 2020. We separated the contributions from protons and from magnetic stresses to the total angular-momentum flux.Results. The angular-momentum flux varies significantly over time. The particle contribution typically dominates over the magnetic-field contribution during our measurement interval. The total angular-momentum flux shows the largest variation and is typically anti-correlated with the radial solar-wind speed. We identify a compression region, potentially associated with a co-rotating interaction region or a coronal mass ejection, which leads to a significant localised increase in the angular-momentum flux, albeit without a significant increase in the angular momentum per unit mass. We repeated our analysis using the density estimate from the Radio and Plasma Waves instrument. Using this independent method, we find a decrease in the peaks of positive angular-momentum flux, but otherwise, our results remain consistent.Conclusions. Our results largely agree with previous measurements of the solar wind's angular-momentum flux in terms of amplitude, variability, and dependence on radial solar-wind bulk speed. Our analysis highlights the potential for more detailed future studies of the solar wind's angular momentum and its other large-scale properties with data from Solar Orbiter. We emphasise the need for studying the radial evolution and latitudinal dependence of the angular-momentum flux in combination with data from Parker Solar Probe and other assets at heliocentric distances of 1 au and beyond.
|
|
| 24. |
- Kanai, M, et al.
(författare)
-
- 2023
-
swepub:Mat__t
|
|
