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1.
  • Datry, T., et al. (author)
  • A global analysis of terrestrial plant litter dynamics in non-perennial waterways
  • 2018
  • In: Nature Geoscience. - : Nature Publishing Group. - 1752-0894 .- 1752-0908. ; 11:7, s. 497-503
  • Journal article (peer-reviewed)abstract
    • Perennial rivers and streams make a disproportionate contribution to global carbon (C) cycling. However, the contribution of intermittent rivers and ephemeral streams (IRES), which sometimes cease to flow and can dry completely, is largely ignored although they represent over half the global river network. Substantial amounts of terrestrial plant litter (TPL) accumulate in dry riverbeds and, upon rewetting, this material can undergo rapid microbial processing. We present the results of a global research collaboration that collected and analysed TPL from 212 dry riverbeds across major environmental gradients and climate zones. We assessed litter decomposability by quantifying the litter carbon-to-nitrogen ratio and oxygen (O2) consumption in standardized assays and estimated the potential short-term CO2 emissions during rewetting events. Aridity, cover of riparian vegetation, channel width and dry-phase duration explained most variability in the quantity and decomposability of plant litter in IRES. Our estimates indicate that a single pulse of CO2 emission upon litter rewetting contributes up to 10% of the daily CO2 emission from perennial rivers and stream, particularly in temperate climates. This indicates that the contributions of IRES should be included in global C-cycling assessments.
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2.
  • von Schiller, D., et al. (author)
  • Sediment Respiration Pulses in Intermittent Rivers and Ephemeral Streams
  • 2019
  • In: Global Biogeochemical Cycles. - : American Geophysical Union (AGU). - 0886-6236 .- 1944-9224. ; 33:10, s. 1251-1263
  • Journal article (peer-reviewed)abstract
    • Intermittent rivers and ephemeral streams (IRES) may represent over half the global stream network, but their contribution to respiration and carbon dioxide (CO2) emissions is largely undetermined. In particular, little is known about the variability and drivers of respiration in IRES sediments upon rewetting, which could result in large pulses of CO2. We present a global study examining sediments from 200 dry IRES reaches spanning multiple biomes. Results from standardized assays show that mean respiration increased 32-fold to 66-fold upon sediment rewetting. Structural equation modeling indicates that this response was driven by sediment texture and organic matter quantity and quality, which, in turn, were influenced by climate, land use, and riparian plant cover. Our estimates suggest that respiration pulses resulting from rewetting of IRES sediments could contribute significantly to annual CO2 emissions from the global stream network, with a single respiration pulse potentially increasing emission by 0.2-0.7%. As the spatial and temporal extent of IRES increases globally, our results highlight the importance of recognizing the influence of wetting-drying cycles on respiration and CO2 emissions in stream networks.
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3.
  • Dunham, I, et al. (author)
  • The DNA sequence of human chromosome 22
  • 1999
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 402:6761, s. 489-495
  • Journal article (peer-reviewed)
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4.
  • Tiegs, Scott D., et al. (author)
  • Global patterns and drivers of ecosystem functioning in rivers and riparian zones
  • 2019
  • In: Science Advances. - Washington : American Association of Advancement in Science. - 2375-2548. ; 5:1
  • Journal article (peer-reviewed)abstract
    • River ecosystems receive and process vast quantities of terrestrial organic carbon, the fate of which depends strongly on microbial activity. Variation in and controls of processing rates, however, are poorly characterized at the global scale. In response, we used a peer-sourced research network and a highly standardized carbon processing assay to conduct a global-scale field experiment in greater than 1000 river and riparian sites. We found that Earth's biomes have distinct carbon processing signatures. Slow processing is evident across latitudes, whereas rapid rates are restricted to lower latitudes. Both the mean rate and variability decline with latitude, suggesting temperature constraints toward the poles and greater roles for other environmental drivers (e.g., nutrient loading) toward the equator. These results and data set the stage for unprecedented "next-generation biomonitoring" by establishing baselines to help quantify environmental impacts to the functioning of ecosystems at a global scale.
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6.
  • Michiels, R., et al. (author)
  • Enhancement of above Threshold Ionization in Resonantly Excited Helium Nanodroplets
  • 2021
  • In: Physical Review Letters. - 0031-9007 .- 1079-7114. ; 127
  • Journal article (peer-reviewed)abstract
    • Clusters and nanodroplets hold the promise of enhancing high-order nonlinear optical effects due to their high local density. However, only moderate enhancement has been demonstrated to date. Here, we report the observation of energetic electrons generated by above-threshold ionization (ATI) of helium (He) nanodroplets which are resonantly excited by ultrashort extreme ultraviolet (XUV) free-electron laser pulses and subsequently ionized by near-infrared (NIR) or near-ultraviolet (UV) pulses. The electron emission due to high-order ATI is enhanced by several orders of magnitude compared with He atoms. The crucial dependence of the ATI intensities with the number of excitations in the droplets suggests a local collective enhancement effect.
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7.
  • Asmussen, J. D., et al. (author)
  • Time-Resolved Ultrafast Interatomic Coulombic Decay in Superexcited Sodium-Doped Helium Nanodroplets
  • 2022
  • In: Journal of Physical Chemistry Letters. - : American Chemical Society (ACS). - 1948-7185. ; 13:20, s. 4470-4478
  • Journal article (peer-reviewed)abstract
    • The autoionization dynamics of super excited superfluid He nanodropletsdoped with Na atoms is studied by extreme-ultraviolet (XUV) time-resolved electronspectroscopy. Following excitation into the higher-lying droplet absorption band, the dropletrelaxes into the lowest metastable atomic 1s2s1,3Sstates from which interatomic Coulombicdecay (ICD) takes place either between two excited He atoms or between an excited He atomand a Na atom attached to the droplet surface. Four main ICD channels are identified, andtheir decay times are determined by varying the delay between the XUV pulse and a UV pulsethat ionizes the initial excited state and thereby quenches ICD. The decay times for thedifferent channels all fall in the range of similar to 1 ps, indicating that the ICD dynamics are mainlydetermined by the droplet environment. A periodic modulation of the transient ICD signals istentatively attributed to the oscillation of the bubble forming around the localized Heexcitation
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8.
  • Asmussen, J. D., et al. (author)
  • Unravelling the full relaxation dynamics of superexcited helium nanodroplets
  • 2021
  • In: Physical Chemistry Chemical Physics. - : Royal Society of Chemistry (RSC). - 1463-9076 .- 1463-9084. ; 23:28, s. 15138-15149
  • Journal article (peer-reviewed)abstract
    • The relaxation dynamics of superexcited superfluid He nanodroplets is thoroughly investigated by means of extreme-ultraviolet (XUV) femtosecond electron and ion spectroscopy complemented by time-dependent density functional theory (TDDFT). Three main paths leading to the emission of electrons and ions are identified: droplet autoionization, pump-probe photoionization, and autoionization induced by re-excitation of droplets relaxing into levels below the droplet ionization threshold. The most abundant product ions are He-2(+), generated by droplet autoionization and by photoionization of droplet-bound excited He atoms. He+ appear with some pump-probe delay as a result of the ejection He atoms in their lowest excited states from the droplets. The state-resolved time-dependent photoelectron spectra reveal that intermediate excited states of the droplets are populated in the course of the relaxation, terminating in the lowest-lying metastable singlet and triplet He atomic states. The slightly faster relaxation of the triplet state compared to the singlet state is in agreement with the simulation showing faster formation of a bubble around a He atom in the triplet state.
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10.
  • Costello, David M., et al. (author)
  • Global patterns and controls of nutrient immobilization on decomposing cellulose in riverine ecosystems
  • 2022
  • In: Global Biogeochemical Cycles. - : John Wiley & Sons. - 0886-6236 .- 1944-9224. ; 36:3
  • Journal article (peer-reviewed)abstract
    • Microbes play a critical role in plant litter decomposition and influence the fate of carbon in rivers and riparian zones. When decomposing low-nutrient plant litter, microbes acquire nitrogen (N) and phosphorus (P) from the environment (i.e., nutrient immobilization), and this process is potentially sensitive to nutrient loading and changing climate. Nonetheless, environmental controls on immobilization are poorly understood because rates are also influenced by plant litter chemistry, which is coupled to the same environmental factors. Here we used a standardized, low-nutrient organic matter substrate (cotton strips) to quantify nutrient immobilization at 100 paired stream and riparian sites representing 11 biomes worldwide. Immobilization rates varied by three orders of magnitude, were greater in rivers than riparian zones, and were strongly correlated to decomposition rates. In rivers, P immobilization rates were controlled by surface water phosphate concentrations, but N immobilization rates were not related to inorganic N. The N:P of immobilized nutrients was tightly constrained to a molar ratio of 10:1 despite wide variation in surface water N:P. Immobilization rates were temperature-dependent in riparian zones but not related to temperature in rivers. However, in rivers nutrient supply ultimately controlled whether microbes could achieve the maximum expected decomposition rate at a given temperature. Collectively, we demonstrated that exogenous nutrient supply and immobilization are critical control points for decomposition of organic matter.
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12.
  • Salis, Romana K., et al. (author)
  • High-throughput amplicon sequencing and stream benthic bacteria : Identifying the best taxonomic level for multiple-stressor research
  • 2017
  • In: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 7:February, s. 1-12
  • Journal article (peer-reviewed)abstract
    • Disentangling the individual and interactive effects of multiple stressors on microbial communities is a key challenge to our understanding and management of ecosystems. Advances in molecular techniques allow studying microbial communities in situ and with high taxonomic resolution. However, the taxonomic level which provides the best trade-off between our ability to detect multiple-stressor effects versus the goal of studying entire communities remains unknown. We used outdoor mesocosms simulating small streams to investigate the effects of four agricultural stressors (nutrient enrichment, the nitrification inhibitor dicyandiamide (DCD), fine sediment and flow velocity reduction) on stream bacteria (phyla, orders, genera, and species represented by Operational Taxonomic Units with 97% sequence similarity). Community composition was assessed using amplicon sequencing (16S rRNA gene, V3-V4 region). DCD was the most pervasive stressor, affecting evenness and most abundant taxa, followed by sediment and flow velocity. Stressor pervasiveness was similar across taxonomic levels and lower levels did not perform better in detecting stressor effects. Community coverage decreased from 96% of all sequences for abundant phyla to 28% for species. Order-level responses were generally representative of responses of corresponding genera and species, suggesting that this level may represent the best compromise between stressor sensitivity and coverage of bacterial communities.
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14.
  • Shumilova, Oleksandra, et al. (author)
  • Simulating rewetting events in intermittent rivers and ephemeral streams : A global analysis of leached nutrients and organic matter
  • 2019
  • In: Global Change Biology. - : WILEY. - 1354-1013 .- 1365-2486. ; 25:5, s. 1591-1611
  • Journal article (peer-reviewed)abstract
    • Climate change and human pressures are changing the global distribution and the extent of intermittent rivers and ephemeral streams (IRES), which comprise half of the global river network area. IRES are characterized by periods of flow cessation, during which channel substrates accumulate and undergo physico-chemical changes (preconditioning), and periods of flow resumption, when these substrates are rewetted and release pulses of dissolved nutrients and organic matter (OM). However, there are no estimates of the amounts and quality of leached substances, nor is there information on the underlying environmental constraints operating at the global scale. We experimentally simulated, under standard laboratory conditions, rewetting of leaves, riverbed sediments, and epilithic biofilms collected during the dry phase across 205 IRES from five major climate zones. We determined the amounts and qualitative characteristics of the leached nutrients and OM, and estimated their areal fluxes from riverbeds. In addition, we evaluated the variance in leachate characteristics in relation to selected environmental variables and substrate characteristics. We found that sediments, due to their large quantities within riverbeds, contribute most to the overall flux of dissolved substances during rewetting events (56%-98%), and that flux rates distinctly differ among climate zones. Dissolved organic carbon, phenolics, and nitrate contributed most to the areal fluxes. The largest amounts of leached substances were found in the continental climate zone, coinciding with the lowest potential bioavailability of the leached OM. The opposite pattern was found in the arid zone. Environmental variables expected to be modified under climate change (i.e. potential evapotranspiration, aridity, dry period duration, land use) were correlated with the amount of leached substances, with the strongest relationship found for sediments. These results show that the role of IRES should be accounted for in global biogeochemical cycles, especially because prevalence of IRES will increase due to increasing severity of drying events.
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15.
  • Uhl, D., et al. (author)
  • Extreme Ultraviolet Wave Packet Interferometry of the Autoionizing HeNe Dimer
  • 2022
  • In: Journal of Physical Chemistry Letters. - : American Chemical Society (ACS). - 1948-7185. ; 13:36, s. 8470-8476
  • Journal article (peer-reviewed)abstract
    • Femtosecond extreme ultraviolet wave packet interferometry (XUV-WPI) was applied to study resonant interatomic Coulombic decay (ICD) in the HeNe dimer. The high demands on phase stability and sensitivity for vibronic XUV-WPI of molecular-beam targets are met using an XUV phase-cycling scheme. The detected quantum interferences exhibit vibronic dephasing and rephasing signatures along with an ultrafast decoherence assigned to the ICD process. A Fourier analysis reveals the molecular absorption spectrum with high resolution. The demonstrated experiment shows a promising route for the real-time analysis of ultrafast ICD processes with both high temporal and high spectral resolution. © 2022 American Chemical Society.
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16.
  • Uhl, D., et al. (author)
  • Improved stabilization scheme for extreme ultraviolet quantum interference experiments
  • 2022
  • In: Journal of Physics B: Atomic, Molecular and Optical Physics. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 55
  • Journal article (peer-reviewed)abstract
    • Interferometric pump-probe experiments in the extreme ultraviolet (XUV) domain are experimentally very challenging due to the high phase stability required between the XUV pulses. Recently, an efficient phase stabilization scheme was introduced for seeded XUV free electron lasers (FELs) combining shot-to-shot phase modulation with lock-in detection [A. Wituschek et al., Nat Commun 11, 1 (2020)]. This method stabilized the seed laser beampath on the fundamental ultraviolet wavelength to a high degree. Here, we extend this scheme including the stabilization of the XUV beampath, incorporating phase fluctuations from the FEL high gain harmonic generation process. Our analysis reveals a clear signal improvement with the new method compared to the previous stabilization scheme.
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17.
  • Bohlooly-Yeganeh, Mohammad, 1966, et al. (author)
  • Growth hormone overexpression in the central nervous system results in hyperphagia-induced obesity associated with insulin resistance and dyslipidemia.
  • 2005
  • In: Diabetes. - 0012-1797 .- 1939-327X. ; 54:1, s. 51-62
  • Journal article (peer-reviewed)abstract
    • It is well known that peripherally administered growth hormone (GH) results in decreased body fat mass. However, GH-deficient patients increase their food intake when substituted with GH, suggesting that GH also has an appetite stimulating effect. Transgenic mice with an overexpression of bovine GH in the central nervous system (CNS) were created to investigate the role of GH in CNS. This study shows that overexpression of GH in the CNS differentiates the effect of GH on body fat mass from that on appetite. The transgenic mice were not GH-deficient but were obese and showed increased food intake as well as increased hypothalamic expression of agouti-related protein and neuropeptide Y. GH also had an acute effect on food intake following intracerebroventricular injection of C57BL/6 mice. The transgenic mice were severely hyperinsulinemic and showed a marked hyperplasia of the islets of Langerhans. In addition, the transgenic mice displayed alterations in serum lipid and lipoprotein levels and hepatic gene expression. In conclusion, GH overexpression in the CNS results in hyperphagia-induced obesity indicating a dual effect of GH with a central stimulation of appetite and a peripheral lipolytic effect.
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18.
  • Bruder, Carl E G, et al. (author)
  • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
  • 2008
  • In: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 82:3, s. 763-71
  • Journal article (peer-reviewed)abstract
    • The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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19.
  • Bruder, CEG, et al. (author)
  • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
  • 2001
  • In: Human Molecular Genetics. - Oxford, United Kingdom : Oxford University Press. - 0964-6906 .- 1460-2083. ; 1, s. 271-
  • Journal article (peer-reviewed)abstract
    • Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.
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20.
  • Buckley, Patrick G, et al. (author)
  • A full-coverage, high-resolution human chromosome 22 genomic microarrayfor clinical and research applications
  • 2002
  • In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 11:25, s. 3221-3229
  • Journal article (peer-reviewed)abstract
    • We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demonstrate the utility of the array, we have applied it to profile acral melanoma, dermatofibrosarcoma, DiGeorge syndrome and neurofibromatosis 2. We accurately diagnosed homozygous/heterozygous deletions, amplifications/gains, IGLV/IGLC locus instability, and breakpoints of an imbalanced translocation. We further identified the 14-3-3 eta isoform as a candidate tumor suppressor in glioblastoma. Two significant methodological advances in array construction were also developed and validated. These include a strictly sequence defined, repeat-free, and non-redundant strategy for array preparation. This approach allows an increase in array resolution and analysis of any locus; disregarding common repeats, genomic clone availability and sequence redundancy. In addition, we report that the application of phi29 DNA polymerase is advantageous in microarray preparation. A broad spectrum of issues in medical research and diagnostics can be approached using the array. This well annotated and gene-rich autosome contains numerous uncharacterized disease genes. It is therefore crucial to associate these genes to specific 22q-related conditions and this array will be instrumental towards this goal. Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array.
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22.
  • Handa, I. Tanya, et al. (author)
  • Consequences of biodiversity loss for litter decomposition across biomes
  • 2014
  • In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 509:7499, s. 218-221
  • Journal article (peer-reviewed)abstract
    • The decomposition of dead organic matter is a major determinant of carbon and nutrient cycling in ecosystems, and of carbon fluxes between the biosphere and the atmosphere(1-3). Decomposition is driven by a vast diversity of organisms that are structured in complex food webs(2,4). Identifying the mechanisms underlying the effects of biodiversity on decomposition is critical(4-6) given the rapid loss of species worldwide and the effects of this loss on human well-being(7-9). Yet despite comprehensive syntheses of studies on how biodiversity affects litter decomposition(4-6,10), key questions remain, including when, where and how biodiversity has a role and whether general patterns and mechanisms occur across ecosystems and different functional types of organism(4,9-12). Here, in field experiments across five terrestrial and aquatic locations, ranging from the subarctic to the tropics, we show that reducing the functional diversity of decomposer organisms and plant litter types slowed the cycling of litter carbon and nitrogen. Moreover, we found evidence of nitrogen transfer from the litter of nitrogen-fixing plants to that of rapidly decomposing plants, but not between other plant functional types, highlighting that specific interactions in litter mixtures control carbon and nitrogen cycling during decomposition. The emergence of this general mechanism and the coherence of patterns across contrasting terrestrial and aquatic ecosystems suggest that biodiversity loss has consistent consequences for litter decomposition and the cycling of major elements on broad spatial scales.
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23.
  • Jabiol, Jeremy, et al. (author)
  • Diversity patterns of leaf-associated aquatic hyphomycetes along a broad latitudinal gradient
  • 2013
  • In: Fungal ecology. - : Elsevier. - 1754-5048 .- 1878-0083. ; 6:5, s. 439-448
  • Journal article (peer-reviewed)abstract
    • Information about the global distribution of aquatic hyphomycetes is scarce, despite the primary importance of these fungi in stream ecosystem functioning. In particular, the relationship between their diversity and latitude remains unclear, due to a lack of coordinated surveys across broad latitudinal ranges. This study is a first report on latitudinal patterns of aquatic hyphomycete diversity associated with native leaf-litter species in five streams located along a gradient extending from the subarctic to the tropics. Exposure of leaf litter in mesh bags of three different mesh sizes facilitated assessing the effects of including or excluding different size-classes of litter-consuming invertebrates. Aquatic hyphomycete evenness was notably constant across all sites, whereas species richness and diversity, expressed as the Hill number, reached a maximum at mid-latitudes (Mediterranean and temperate streams). These latitudinal patterns were consistent across litter species, despite a notable influence of litter identity on fungal communities at the local scale. As a result, the bell-shaped distribution of species richness and Hill diversity deviated markedly from the latitudinal patterns of most other groups of organisms. Differences in the body-size distribution of invertebrate communities colonizing the leaves had no effect on aquatic hyphomycete species richness, Hill diversity or evenness, but invertebrates could still influence fungal communities by depleting litter, an effect that was not captured by the design of our experiment. (C) 2013 Elsevier Ltd and The British Mycological Society. All rights reserved.
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25.
  • Mantripragada, K K, et al. (author)
  • Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.
  • 2006
  • In: Journal of medical genetics. - : BMJ. - 1468-6244 .- 0022-2593. ; 43:1, s. 28-38
  • Journal article (peer-reviewed)abstract
    • BACKGROUND: Segmental duplications flanking the neurofibromatosis type 1 (NF1) gene locus on 17q11 mediate most gene deletions in NF1 patients. However, the large size of the gene and the complexity of the locus architecture pose difficulties in deletion analysis. We report the construction and application of the first NF1 locus specific microarray, covering 2.24 Mb of 17q11, using a non-redundant approach for array design. The average resolution of analysis for the array is approximately 12 kb per measurement point with an increased average resolution of 6.4 kb for the NF1 gene. METHODS: We performed a comprehensive array-CGH analysis of 161 NF1 derived samples and identified heterozygous deletions of various sizes in 39 cases. The typical deletion was identified in 26 cases, whereas 13 samples showed atypical deletion profiles. RESULTS: The size of the atypical deletions, contained within the segment covered by the array, ranged from 6 kb to 1.6 Mb and their breakpoints could be accurately determined. Moreover, 10 atypical deletions were observed to share a common breakpoint either on the proximal or distal end of the deletion. The deletions identified by array-CGH were independently confirmed using multiplex ligation-dependent probe amplification. Bioinformatic analysis of the entire locus identified 33 segmental duplications. CONCLUSIONS: We show that at least one of these segmental duplications, which borders the proximal breakpoint located within the NF1 intron 1 in five atypical deletions, might represent a novel hot spot for deletions. Our array constitutes a novel and reliable tool offering significantly improved diagnostics for this common disorder.
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26.
  • Salis, Romana K., et al. (author)
  • Multiple-stressor effects of dicyandiamide (DCD) and agricultural stressors on trait-based responses of stream benthic algal communities
  • 2019
  • In: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 693
  • Journal article (peer-reviewed)abstract
    • Agricultural practices often result in multiple stressors affecting stream ecosystems, and interacting stressors complicate environmental assessment and management of impacted streams. The nitrification inhibitor dicyandiamide (DCD) is used for nitrogen management on farmland. Effects of leached DCD on stream ecosystems are still largely unstudied, even though it could be relevant as a stressor on its own or in combination with other agricultural stressors. We conducted two experiments in 128 outdoor stream-fed mesocosms to assess stressor effects on biomass, cell density, taxon richness, evenness and functional trait composition of benthic algal communities. First, we examined responses to a wide DCD gradient (eight concentrations, 0–31 mg L−1) and two additional stressors, deposited fine sediment (none, high) and nutrient enrichment (ambient, enriched). Second, we determined algal responses to four stressors: DCD, sediment, nutrients, and reduced flow velocity. Here DCD treatments included controls, constant application (1.4 mg L−1) and two pulsed treatments mimicking concentration patterns in real streams (peaks 3.5 mg L−1, 2.2 mg L−1). Sediment and nutrient enrichment were influential stressors in both experiments, with fine sediment having the most pervasive effects. In Experiment 2, reduced flow velocity had pervasive effects and stressor interactions were mainly restricted to two-way interactions. DCD had few, weak stressor main effects, especially at field-realistic concentrations (Experiment 2). At the highest concentrations in Experiment 1 (above levels observed in real streams), DCD effects were still rare but some significant stressor interactions occurred. Analyses of functional traits were helpful in identifying potential mechanisms driving changes in densities and community composition. These findings suggest that, while DCD on its own may be a minor stressor, it could have adverse effects on algal communities already exposed to other stressors, a scenario common in agricultural streams.
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29.
  • Trifunovic, A, et al. (author)
  • Creation of mtDNA mutator mice
  • 2004
  • In: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. - 0005-2728. ; 1657, s. 21-21
  • Conference paper (other academic/artistic)
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