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| 2. |
- Boerrnert, Felix, et al.
(författare)
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Single-wall-carbon-nanotube/single-carbon-chain molecular junctions
- 2010
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Ingår i: Physical Review B. Condensed Matter and Materials Physics. - 1098-0121 .- 1550-235X. ; 81:8, s. 085439-1-085439-5
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Tidskriftsartikel (refereegranskat)abstract
- Stable junctions between a single carbon chain and two single-wall carbon nanotubes were produced via coalescence of functionalized fullerenes filled into a single-wall carbon nanotube and directly imaged by in situ transmission electron microscopy. First principles quantum chemical calculations support the observed stability of such molecular junctions. They also show that short carbon chains bound to other carbon structures are cumulenes and stable semiconductors due to Peierls-like distortion. Junctions like this can be regarded as archetypical building blocks for all-carbon molecular electronics.
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| 3. |
- Kuehlewein, Laura, et al.
(författare)
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Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
- 2020
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Ingår i: JAMA Ophthalmology. - : American Medical Association (AMA). - 2168-6165. ; 138:12, s. 1241-1250
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Tidskriftsartikel (refereegranskat)abstract
- IMPORTANCE Treatment trials require sound knowledge on the natural course of disease. OBJECTIVE To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial. DESIGN, SETTING, AND PARTICIPANTS This prospective, longitudinal, observational cohort study was conducted from January 2001 to December 2019 in a single center (Centre for Ophthalmology of the University of Tübingen, Germany) with patients recruited multinationally from 12 collaborating European tertiary referral centers. Patients with retinitis pigmentosa, sequence variants in PDE6A, and the ability to provide informed consent were included. EXPOSURES Comprehensive ophthalmological examinations; validation of compound heterozygosity and biallelism by familial segregation analysis, allelic cloning, or assessment of next-generation sequencing-read data, where possible. MAIN OUTCOMES AND MEASURES Genetic findings and clinical features describing the entire cohort and comparing patients harboring the 2 most common disease-causing variants in a homozygous state (c.304C>A;p.(R102S) and c.998 + 1G>A;p.?). RESULTS Fifty-seven patients (32 female patients [56%]; mean [SD], 40 [14] years) from 44 families were included. All patients completed the study. Thirty patients were homozygous for disease-causing alleles. Twenty-seven patients were heterozygous for 2 different PDE6A variants each. The most frequently observed alleles were c.304C>A;p.(R102S), c.998 + 1G>A;p.?, and c.2053G>A;p.(V685M). The mean (SD) best-corrected visual acuity was 0.43 (0.48) logMAR (Snellen equivalent, 20/50). The median visual field area with object III4e was 660 square degrees (5th and 95th percentiles, 76 and 11 019 square degrees; 25th and 75th percentiles, 255 and 3923 square degrees). Dark-adapted and light-adapted full-field electroretinography showed no responses in 88 of 108 eyes (81.5%). Sixty-nine of 108 eyes (62.9%) showed additional findings on optical coherence tomography imaging (eg, cystoid macular edema or macular atrophy). The variant c.998 + 1G>A;p.? led to a more severe phenotype when compared with the variant c.304C>A;p.(R102S). CONCLUSIONS AND RELEVANCE Seventeen of the PDE6A variants found in these patients appeared to be novel. Regarding the clinical findings, disease was highly symmetrical between the right and left eyes and visual impairment was mild or moderate in 90% of patients, providing a window of opportunity for gene therapy.
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| 4. |
- Anzt, Hartwig, et al.
(författare)
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An environment for sustainable research software in Germany and beyond: current state, open challenges, and call for action
- 2020
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Ingår i: F1000 Research. - : F1000 Research Ltd. - 2046-1402. ; 9
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Tidskriftsartikel (refereegranskat)abstract
- Research software has become a central asset in academic research. It optimizes existing and enables new research methods, implements and embeds research knowledge, and constitutes an essential research product in itself. Research software must be sustainable in order to understand, replicate, reproduce, and build upon existing research or conduct new research effectively. In other words, software must be available, discoverable, usable, and adaptable to new needs, both now and in the future. Research software therefore requires an environment that supports sustainability. Hence, a change is needed in the way research software development and maintenance are currently motivated, incentivized, funded, structurally and infrastructurally supported, and legally treated. Failing to do so will threaten the quality and validity of research. In this paper, we identify challenges for research software sustainability in Germany and beyond, in terms of motivation, selection, research software engineering personnel, funding, infrastructure, and legal aspects. Besides researchers, we specifically address political and academic decision-makers to increase awareness of the importance and needs of sustainable research software practices. In particular, we recommend strategies and measures to create an environment for sustainable research software, with the ultimate goal to ensure that software-driven research is valid, reproducible and sustainable, and that software is recognized as a first class citizen in research. This paper is the outcome of two workshops run in Germany in 2019, at deRSE19 - the first International Conference of Research Software Engineers in Germany - and a dedicated DFG-supported follow-up workshop in Berlin.
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| 5. |
- Aufgebauer, Anne, et al.
(författare)
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Climate and environmental change in the Balkans over the last 17 ka recorded in sediments from Lake Prespa (Albania/FYR of Macedonia/Greece)
- 2012
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Ingår i: Quaternary International. - Oxford : Elsevier. - 1040-6182 .- 1873-4553. ; 274, s. 122-135
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Tidskriftsartikel (refereegranskat)abstract
- This paper presents sedimentological, geochemical, and biological data from Lake Prespa (Albania/Former Yugoslav Republic of Macedonia/Greece). The 320 cm core sequence (Co1215) covers the last 17 ka calBP and reveals significant change in climate and environmental conditions on a local and regional scale. The sediment record suggests typical stadial conditions from 17.1 to 15.7 ka calBP, documented through low lake productivity, well-mixed conditions, and cold-resistant steppe catchment vegetation. Warming is indicated from 15.7 ka calBP with slightly increased in-lake productivity, gradual expansion of trees, and decreasing erosion through disappearance of local ice caps. Between 14.5 and 11.5 ka calBP relatively stable hydrological conditions are documented. The maximum in tree taxa percentages during the Bolling/Allerod interstadial (14.5-13.2 ka calBP) indicates increased temperatures and moisture availability, whereas the increase of cold-resistant open steppe vegetation taxa percentages during the Younger Dryas (13.2-11.5 ka calBP) is coupled with distinct colder and drier conditions. The Holocene sequence from 11.5 ka calBP indicates ice-free winters, stratification of the water column, a relatively high lake trophic level and dense vegetation cover over the catchment. A strong climate related impact on the limnology and physical parameters in Lake Prespa is documented around 8.2 ka through a significant decrease in productivity, enhanced mixing, strong decomposition and soil erosion, and a coeval expansion of herbs implying cool and dry climate conditions. Intensive human activity in the catchment is indicated from around 1.9 ka calBP. This multiproxy approach improves our understanding of short- and long-term climate fluctuations in this area and their impact on catchment dynamics, limnology, hydrology, and vegetation. (C) 2012 Elsevier Ltd and INQUA. All rights reserved.
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| 6. |
- Bazarian, Jeffrey J., et al.
(författare)
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Serum GFAP and UCH-L1 for prediction of absence of intracranial injuries on head CT (ALERT-TBI) : a multicentre observational study
- 2018
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Ingår i: Lancet Neurology. - : Lancet Publishing Group. - 1474-4422 .- 1474-4465. ; 17:9, s. 782-789
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Tidskriftsartikel (refereegranskat)abstract
- Background: More than 50 million people worldwide sustain a traumatic brain injury (TBI) annually. Detection of intracranial injuries relies on head CT, which is overused and resource intensive. Blood-based brain biomarkers hold the potential to predict absence of intracranial injury and thus reduce unnecessary head CT scanning. We sought to validate a test combining ubiquitin C-terminal hydrolase-L1 (UCH-L1) and glial fibrillary acidic protein (GFAP), at predetermined cutoff values, to predict traumatic intracranial injuries on head CT scan acutely after TBI.Methods: This prospective, multicentre observational trial included adults (≥18 years) presenting to participating emergency departments with suspected, non-penetrating TBI and a Glasgow Coma Scale score of 9-15. Patients were eligible if they had undergone head CT as part of standard emergency care and blood collection within 12 h of injury. UCH-L1 and GFAP were measured in serum and analysed using prespecified cutoff values of 327 pg/mL and 22 pg/mL, respectively. UCH-L1 and GFAP assay results were combined into a single test result that was compared with head CT results. The primary study outcomes were the sensitivity and the negative predictive value (NPV) of the test result for the detection of traumatic intracranial injury on head CT.Findings: Between Dec 6, 2012, and March 20, 2014, 1977 patients were recruited, of whom 1959 had analysable data. 125 (6%) patients had CT-detected intracranial injuries and eight (<1%) had neurosurgically manageable injuries. 1288 (66%) patients had a positive UCH-L1 and GFAP test result and 671 (34%) had a negative test result. For detection of intracranial injury, the test had a sensitivity of 0·976 (95% CI 0·931-0·995) and an NPV of 0·996 (0·987-0·999). In three (<1%) of 1959 patients, the CT scan was positive when the test was negative.Interpretation: These results show the high sensitivity and NPV of the UCH-L1 and GFAP test. This supports its potential clinical role for ruling out the need for a CT scan among patients with TBI presenting at emergency departments in whom a head CT is felt to be clinically indicated. Future studies to determine the value added by this biomarker test to head CT clinical decision rules could be warranted.Funding: Banyan Biomarkers and US Army Medical Research and Materiel Command.
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| 7. |
- Bentley, Michael J., et al.
(författare)
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A community-based geological reconstruction of Antarctic Ice Sheet deglaciation since the Last Glacial Maximum
- 2014
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Ingår i: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 100, s. 1-9
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Tidskriftsartikel (refereegranskat)abstract
- A robust understanding of Antarctic Ice Sheet deglacial history since the Last Glacial Maximum is important in order to constrain ice sheet and glacial-isostatic adjustment models, and to explore the forcing mechanisms responsible for ice sheet retreat. Such understanding can be derived from a broad range of geological and glaciological datasets and recent decades have seen an upsurge in such data gathering around the continent and Sub-Antarctic islands. Here, we report a new synthesis of those datasets, based on an accompanying series of reviews of the geological data, organised by sector. We present a series of timeslice maps for 20 ka, 15 ka, 10 ka and 5 ka, including grounding line position and ice sheet thickness changes, along with a clear assessment of levels of confidence. The reconstruction shows that the Antarctic Ice sheet did not everywhere reach the continental shelf edge at its maximum, that initial retreat was asynchronous, and that the spatial pattern of deglaciation was highly variable, particularly on the inner shelf. The deglacial reconstruction is consistent with a moderate overall excess ice volume and with a relatively small Antarctic contribution to meltwater pulse la. We discuss key areas of uncertainty both around the continent and by time interval, and we highlight potential priorities for future work. The synthesis is intended to be a resource for the modelling and glacial geological community.
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| 8. |
- Biermann, Frank, et al.
(författare)
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Earth system governance: a research framework
- 2010
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Ingår i: International Environmental Agreements: Politics, Law and Economics. - : Springer Science and Business Media LLC. - 1573-1553 .- 1567-9764. ; 10:4, s. 277-298
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Tidskriftsartikel (refereegranskat)abstract
- The Earth System Science Partnership, which unites all major global change research programmes, declared in 2001 an urgent need to develop "strategies for Earth System management". Yet what such strategies might be, how they could be developed, and how effective, efficient and equitable such strategies would be, remains unspecified. It is apparent that the institutions, organizations and mechanisms by which humans currently govern their relationship with the natural environment and global biochemical systems are not only insufficient-they are also poorly understood. This article presents the science programme of the Earth System Governance Project, a new 10-year global research effort endorsed by the International Human Dimensions Programme on Global Environmental Change (IHDP). It outlines the concept of earth system governance as a challenge for the social sciences, and it elaborates on the interlinked analytical problems and research questions of earth system governance as an object of study. These analytical problems concern the overall architecture of earth system governance, agency beyond the state and of the state, the adaptiveness of governance mechanisms and processes as well as their accountability and legitimacy, and modes of allocation and access in earth system governance. The article also outlines four crosscutting research themes that are crucial for the study of each analytical problem as well as for the integrated understanding of earth system governance: the role of power, knowledge, norms and scale.
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| 9. |
- Calamante, Fernando, et al.
(författare)
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MR System Operator: Recommended Minimum Requirements for Performing MRI in Human Subjects in a Research Setting
- 2015
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Ingår i: Journal of Magnetic Resonance Imaging. - : Wiley. - 1522-2586 .- 1053-1807. ; 41:4, s. 899-902
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Forskningsöversikt (refereegranskat)abstract
- This article is intended to provide guidelines for the minimum level of safety and operational knowledge that an MR system operator should exhibit in order to safely perform an MR procedure in a human subject in a research setting. This article represents the position of the International Society for Magnetic Resonance in Medicine (ISMRM) regarding this important topic and was developed by members of this society's MR Safety Committee. J. Magn. Reson. Imaging 2015;41:899-902. (c) 2014 Wiley Periodicals, Inc.
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| 10. |
- Campa, Daniele, et al.
(författare)
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A Comprehensive Investigation on Common Polymorphisms in the MDR1/ABCB1 Transporter Gene and Susceptibility to Colorectal Cancer
- 2012
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 7:3
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Tidskriftsartikel (refereegranskat)abstract
- ATP Binding Cassette B1 (ABCB1) is a transporter with a broad substrate specificity involved in the elimination of several carcinogens from the gut. Several polymorphic variants within the ABCB1 gene have been reported as modulators of ABCB1-mediated transport. We investigated the impact of ABCB1 genetic variants on colorectal cancer (CRC) risk. A hybrid tagging/functional approach was performed to select 28 single nucleotide polymorphisms (SNPs) that were genotyped in 1,321 Czech subjects, 699 CRC cases and 622 controls. In addition, six potentially functional SNPs were genotyped in 3,662 German subjects, 1,809 cases and 1,853 controls from the DACHS study. We found that three functional SNPs (rs1202168, rs1045642 and rs868755) were associated with CRC risk in the German population. Carriers of the rs1202168_T and rs868755_T alleles had an increased risk for CRC (P-trend = 0.016 and 0.029, respectively), while individuals bearing the rs1045642_C allele showed a decreased risk of CRC (P-trend = 0.022). We sought to replicate the most significant results in an independent case-control study of 3,803 subjects, 2,169 cases and 1,634 controls carried out in the North of Germany. None of the SNPs tested were significantly associated with CRC risk in the replication study. In conclusion, in this study of about 8,800 individuals we show that ABCB1 gene polymorphisms play at best a minor role in the susceptibility to CRC.
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