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| 2. |
- Dornelas, M., et al.
(författare)
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BioTIME: A database of biodiversity time series for the Anthropocene
- 2018
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Ingår i: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 27:7, s. 760-786
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Tidskriftsartikel (refereegranskat)abstract
- Motivation: The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene. Main types of variables included: The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, the database contains metadata relating to sampling methodology and contextual information about each record. Spatial location and grain: BioTIME is a global database of 547,161 unique sampling locations spanning the marine, freshwater and terrestrial realms. Grain size varies across datasets from 0.0000000158 km(2) (158 cm(2)) to 100 km(2) (1,000,000,000,000 cm(2)). Time period and grainBio: TIME records span from 1874 to 2016. The minimal temporal grain across all datasets in BioTIME is a year. Major taxa and level of measurement: BioTIME includes data from 44,440 species across the plant and animal kingdoms, ranging from plants, plankton and terrestrial invertebrates to small and large vertebrates.
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| 3. |
- Helbig, K. L., et al.
(författare)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
- 2018
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
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Tidskriftsartikel (refereegranskat)abstract
- Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
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| 5. |
- Goicoechea, J.R., et al.
(författare)
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VELOCITY-RESOLVED [C II] EMISSION AND [C II]/FIR MAPPING ALONG ORION WITH HERSCHEL
- 2015
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Ingår i: Astrophysical Journal. - 1538-4357 .- 0004-637X. ; 812:1, s. 75-
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Tidskriftsartikel (refereegranskat)abstract
- We present the first ~7.′5 × 11.′5 velocity-resolved (~0.2 km/s) map of the [C II] 158 μm line toward the Orion molecular cloud1 (OMC1) taken with the Herschel/HIFI instrument. In combination with far-IR (FIR) photometric images and velocity-resolved maps of the H41α hydrogen recombination and CO J = 2–1 lines, this data set provides an unprecedented view of the intricate small-scale kinematics of the ionized/photodissociation region (PDR)/molecular gas interfaces and of the radiative feedback from massive stars. The main contribution to the [C II] luminosity (~85%) is from the extended, FUV-illuminated face of the cloud (G0 > 500, nH > 5 × 10^3 cm^−3) and from dense PDRs (G0>~10^4, nH>~10^5 cm^−3) at the interface between OMC 1 and the H II region surrounding the Trapezium cluster. Around ~15% of the [C II] emission arises from a different gas component without a CO counterpart. The [C II] excitation, PDR gas turbulence, line opacity (from [13C II]), and role of the geometry of the illuminating stars with respect to the cloud are investigated. We construct maps of the L[CII]/LFIR and LFIR/MGas ratios and show that L[CII]/LFIR decreases from the extended cloud component (~10^−2–10^−3) to the more opaque star-forming cores (~10^-3-10−4). The lowest values are reminiscent of the “[C II] deficit” seen in local ultraluminous IR galaxies hosting vigorous star formation. Spatial correlation analysis shows that the decreasing L[C II]/LFIR ratio correlates better with the column density of dust through the molecular cloud than with LFIR/MGas. We conclude that the [C II]-emitting column relative to the total dust column along each line of sight is responsible for the observed L[C II]/LFIR variations through the cloud.
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| 7. |
- Reid, Suzanne J, et al.
(författare)
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Alzheimer's disease markers in the aged sheep (Ovis aries).
- 2017
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Ingår i: Neurobiology of aging. - : Elsevier BV. - 1558-1497 .- 0197-4580. ; 58, s. 112-119
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Tidskriftsartikel (refereegranskat)abstract
- This study reports the identification and characterization of markers of Alzheimer's disease (AD) in aged sheep (Ovis aries) as a preliminary step toward making a genetically modified large animal model of AD. Importantly, the sequences of key proteins involved in AD pathogenesis are highly conserved between sheep and human. The processing of the amyloid-β (Aβ) protein is conserved between sheep and human, and sheep Aβ1-42/Aβ1-40 ratios in cerebrospinal fluid (CSF) are also very similar to human. In addition, total tau and neurofilament light levels in CSF are comparable with those found in human. The presence of neurofibrillary tangles in aged sheep brain has previously been established; here, we report for the first time that plaques, the other pathologic hallmark of AD, are also present in the aged sheep brain. In summary, the biological machinery to generate the key neuropathologic features of AD is conserved between the human and sheep, making the sheep a good candidate for future genetic manipulation to accelerate the condition for use in pathophysiological discovery and therapeutic testing.
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| 8. |
- Ljunggren, Philip, et al.
(författare)
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Reduced brachial artery distensibility in patients with type 1 diabetes
- 2016
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Ingår i: Journal of diabetes and its complications. - : ELSEVIER SCIENCE INC. - 1056-8727 .- 1873-460X. ; 30:5, s. 893-897
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Tidskriftsartikel (refereegranskat)abstract
- Background and aims: In patients with type 1 diabetes mellitus (T1D), cardiovascular disease (CVD) events are more common and occur earlier in life than in non-diabetics. Reduced brachial artery distensibility (BrachD) is an independent risk factor for development of CVD. Our aim was to determine if adults with T1D have lower BrachD compared to adults without diabetes and also to determine how age and gender affect the relationship of BrachD with T1D status. Materials and methods: BrachD was measured using the Dynapulse instrument in 829 participants (352 with T1D, 477 non-diabetics). An ANCOVA model was used to test the association of BrachD with age, sex, and T1D, and the significance of an age*sex*T1D interaction. Results: Mean BrachD was lower in T1D patients vs. controls (6.43 +/- 1.46 vs. 7.16 +/- 1.48 % change per mmHg, p amp;lt; 0.0001). In a model adjusted for age, T1D, and sex, the interaction of age*T1D*sex was significant (p = 0.0045). Younger women both with and without T1D had higher BrachD than men with and without T1D, but older women with and without T1D had lower BrachD compared to older men with and without T1D. Women with T1D had a steeper decline in BrachD with age than nondiabetic women. Conclusions: BrachD is lower in T1D patients than in non-diabetics, indicating increased vascular stiffness. Younger females have higher BrachD than males, but the decline with age in BrachD is steeper for women, particularly among those with T1D. BrachD may be an inexpensive, non-invasive method to ascertain increased CVD risk in this population. (C) 2016 Elsevier Inc. All rights reserved.
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| 9. |
- Lunt, Daniel J., et al.
(författare)
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The DeepMIP contribution to PMIP4 : experimental design for model simulations of the EECO, PETM, and pre-PETM (version 1.0)
- 2017
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Ingår i: Geoscientific Model Development. - : Copernicus GmbH. - 1991-959X .- 1991-9603. ; 10:2, s. 889-901
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Tidskriftsartikel (refereegranskat)abstract
- Past warm periods provide an opportunity to evaluate climate models under extreme forcing scenarios, in particular high (>800 ppmv) atmospheric CO2 concentrations. Although a post hoc intercomparison of Eocene (similar to 50 Ma) climate model simulations and geological data has been carried out previously, models of past high-CO2 periods have never been evaluated in a consistent framework. Here, we present an experimental design for climate model simulations of three warm periods within the early Eocene and the latest Paleocene (the EECO, PETM, and pre-PETM). Together with the CMIP6 pre-industrial control and abrupt 4 x CO2 simulations, and additional sensitivity studies, these form the first phase of DeepMIP - the Deep-time Model Intercomparison Project, itself a group within the wider Paleo-climate Modelling Intercomparison Project (PMIP). The experimental design specifies and provides guidance on boundary conditions associated with palaeogeography, greenhouse gases, astronomical configuration, solar constant, land surface processes, and aerosols. Initial conditions, simulation length, and output variables are also specified. Finally, we explain how the geological data sets, which will be used to evaluate the simulations, will be developed.
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| 10. |
- Nallu, Sumitha, et al.
(författare)
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The molecular genetic basis of herbivory between butterflies and their host plants
- 2018
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Ingår i: Nature Ecology & Evolution. - : Springer Science and Business Media LLC. - 2397-334X. ; 2:9, s. 1418-1427
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Tidskriftsartikel (refereegranskat)abstract
- Interactions between herbivorous insects and their host plants are a central component of terrestrial food webs and a critical topic in agriculture, where a substantial fraction of potential crop yield is lost annually to pests. Important insights into plant-insect interactions have come from research on specific plant defences and insect detoxification mechanisms. Yet, much remains unknown about the molecular mechanisms that mediate plant-insect interactions. Here we use multiple genome-wide approaches to map the molecular basis of herbivory from both plant and insect perspectives, focusing on butterflies and their larval host plants. Parallel genome-wide association studies in the cabbage white butterfly, Pieris rapae, and its host plant, Arabidopsis thaliana, pinpointed a small number of butterfly and plant genes that influenced herbivory. These genes, along with much of the genome, were regulated in a dynamic way over the time course of the feeding interaction. Comparative analyses, including diverse butterfly/plant systems, showed a variety of genome-wide responses to herbivory, as well as a core set of highly conserved genes in butterflies as well as their host plants. These results greatly expand our understanding of the genomic causes and evolutionary consequences of ecological interactions across two of nature's most diverse taxa, butterflies and flowering plants.
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