| 1. |
- Burrascano, S., et al.
(författare)
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Where are we now with European forest multi-taxon biodiversity and where can we head to?
- 2023
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Ingår i: Biological Conservation. - 0006-3207. ; 284
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Tidskriftsartikel (refereegranskat)abstract
- The European biodiversity and forest strategies rely on forest sustainable management (SFM) to conserve forest biodiversity. However, current sustainability assessments hardly account for direct biodiversity indicators. We focused on forest multi-taxon biodiversity to: i) gather and map the existing information; ii) identify knowledge and research gaps; iii) discuss its research potential. We established a research network to fit data on species, standing trees, lying deadwood and sampling unit description from 34 local datasets across 3591 sampling units. A total of 8724 species were represented, with the share of common and rare species varying across taxonomic classes: some included many species with several rare ones (e.g., Insecta); others (e.g., Bryopsida) were repre-sented by few common species. Tree-related structural attributes were sampled in a subset of sampling units (2889; 2356; 2309 and 1388 respectively for diameter, height, deadwood and microhabitats). Overall, multi-taxon studies are biased towards mature forests and may underrepresent the species related to other develop-mental phases. European forest compositional categories were all represented, but beech forests were over-represented as compared to thermophilous and boreal forests. Most sampling units (94%) were referred to a habitat type of conservation concern. Existing information may support European conservation and SFM stra-tegies in: (i) methodological harmonization and coordinated monitoring; (ii) definition and testing of SFM in-dicators and thresholds; (iii) data-driven assessment of the effects of environmental and management drivers on multi-taxon forest biological and functional diversity, (iv) multi-scale forest monitoring integrating in-situ and remotely sensed information.
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| 2. |
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| 3. |
- Nilsson, D., et al.
(författare)
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Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
- 2017
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Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:2, s. 180-192
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Tidskriftsartikel (refereegranskat)abstract
- Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome sequencing to fine map rearrangement breakpoint junctions in both phenotypically normal and affected translocation carriers. In total, 46 junctions from 22 carriers of balanced translocations were characterized. Genes were disrupted in 48% of the breakpoints; recessive genes in four normal carriers and known dominant intellectual disability genes in three affected carriers. Finally, seven candidate disease genes were disrupted in five carriers with neurocognitive disabilities (SVOPL, SUSD1, TOX, NCALD, SLC4A10) and one XX-male carrier with Tourette syndrome (LYPD6, GPC5). Breakpoint junction analyses revealed microhomology and small templated insertions in a substantive fraction of the analyzed translocations (17.4%; n = 4); an observation that was substantiated by reanalysis of 37 previously published translocation junctions. Microhomology associated with templated insertions is a characteristic seen in the breakpoint junctions of rearrangements mediated by error-prone replication-based repair mechanisms. Our data implicate that a mechanism involving template switching might contribute to the formation of at least 15% of the interchromosomal translocation events.
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| 4. |
- Pietrow, A. G. M., et al.
(författare)
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A comparative study of two X2.2 and X9.3 solar flares observed with HARPS-N : Reconciling Sun-as-a-star spectroscopy and high-spatial resolution solar observations in the context of the solar-stellar connection
- 2024
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Ingår i: Astronomy and Astrophysics. - 0004-6361 .- 1432-0746. ; 682
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Tidskriftsartikel (refereegranskat)abstract
- Context. Stellar flares cannot be spatially resolved, which complicates ascertaining the physical processes behind particular spectral signatures. Due to their proximity to Earth, solar flares can serve as a stepping stone for understanding their stellar counterparts, especially when using a Sun-as-a-star instrument and in combination with spatially resolved observations.Aims. We aim to understand the disk-integrated spectral behaviors of a confined X2.2 flare and its eruptive X9.3 successor, which had energies of 2.2 × 1031 erg and 9.3 × 1031 erg, respectively, as measured by Sun-as-a-star observations with the High Accuracy Radial velocity Planet Searcher for the Northern hemisphere (HARPS-N).Methods. The behavior of multiple photospheric (Na D1 & D2, Mg I at 5173 Å, Fe I at 6173 Å, and Mn I at 4031 Å) and chromospheric (Ca II H & K, Hα, Hβ, and He ID3) spectral lines were investigated by means of activity indices and contrast profiles. A number of different photospheric lines were also investigated by means of equivalent widths, and radial velocity measures, which were then related to physical processes directly observed in high-resolution observations made with the Swedish 1-m Solar Telescope (SST) and the Atmospheric Imaging Assembly (AIA) on board of the Solar Dynamics Observatory (SDO).Results. Our findings suggest a relationship between the evolving shapes of contrast profile time and the flare locations, which assists in constraining flare locations in disk-integrated observations. In addition, an upward bias was found in flare statistics based on activity indices derived from the Ca II H & K lines. In this case, much smaller flares cause a similar increase in the activity index as that produced by larger flares. Hα-based activity indices do not show this bias and are therefore less susceptible to activity jitter. Sodium line profiles show a strongly asymmetric response during flare activity, which is best captured with a newly defined asymmetrical sodium activity index. A strong flare response was detected in Mn I line profiles, which is unexpected and calls for further exploration. Intensity increases in Hα, Hβ, and certain spectral windows of AIA before the flare onset suggest their potential use as short-term flare predictors.
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| 5. |
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| 6. |
- Wang, CH, et al.
(författare)
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Consensus statement on standard of care for congenital myopathies
- 2012
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 27:3, s. 363-382
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Tidskriftsartikel (refereegranskat)abstract
- Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail correspondences, periodic conference calls, 2 rounds of online surveys, and a 3-day workshop to achieve a consensus for diagnostic and clinical care recommendations. The committee includes 59 members from 10 medical disciplines. They are organized into 5 working groups: genetics/diagnosis, neurology, pulmonology, gastroenterology/nutrition/speech/oral care, and orthopedics/rehabilitation. In each care area the authors summarize the committee’s recommendations for symptom assessments and therapeutic interventions. It is the committee’s goal that through these recommendations, patients with congenital myopathies will receive optimal care and improve their disease outcome.
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| 7. |
- Weis, J., et al.
(författare)
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Sensitivity to change of the EORTC quality of life module measuring cancer-related fatigue (EORTC QlQ-Fa12): Results from the international psychometric validation
- 2019
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Ingår i: Psycho-Oncology. - : Wiley. - 1057-9249 .- 1099-1611. ; 28, s. 1753-1761
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Tidskriftsartikel (refereegranskat)abstract
- Objective The European Organisation for Research and Treatment of Cancer Quality of Life Group (EORTC QLG) has developed a multidimensional instrument measuring cancer-related fatigue, the EORTC QLQ-FA12. The analysis of sensitivity to change is an essential part of psychometric validation. With this study, we investigated the EORTC QLQ-FA12's sensitivity to change. Methods The methodology follows the EORTC guidelines of EORTC QLG for phase IV validation of modules. We included cancer patients undergoing curative and palliative treatment at t1 and followed them up prospectively over the course of their treatment (t2) and 4 weeks after completion of treatment (t3). Data were collected prospectively at 17 sites in 11 countries. Sensitivity to change was investigated using analysis of variance. Results A total sample of 533 patients was enrolled with various tumour types, different stages of cancer, and receiving either curative treatment (n=311) or palliative treatment (n=222). Over time all fatigue scores were significantly higher in the palliative treatment group compared with the curative group (p < .001). Physical fatigue increased with medium effect size over the course of treatment in the curative group (standardized response mean [SRM] (t1,t2) = 0.44]. After treatment physical [SRM (t2,t3) = 0.39], emotional [SRM (t2,t3)= 0.28] and cognitive fatigue (SRM [t2,t3] = 0.22) declined significantly in the curative group. In the palliative group, emotional (SRM [t2,t3] = 0.18) as well as cognitive [SRM [t2,t3] = 0.26) fatigue increases significantly. Conclusions The EORTC-QLQ-FA12 proved to identify clinically significant changes in fatigue in the course of curative and palliative cancer treatment.
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| 8. |
- Dutta, Joydeep, 1964-, et al.
(författare)
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Crystallization of nanosized silicon powder prepared by plasma-induced clustering reactions
- 1997
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Ingår i: AIChE Journal. - 0001-1541 .- 1547-5905. ; 43:11 A, s. 2610-2615
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Tidskriftsartikel (refereegranskat)abstract
- Nanosized silicon powders were prepared by gas-phase cluster agglomeration reactions in a low-pressure silane plasma. The formation and agglomeration of clusters leading to the growth of primary particles of powder were studied by in-situ techniques including mass spectroscopy and laser light-scattering experiments. These powders, generally amorphous and crystallized in a reducing atmosphere, were studied in detail by Raman spectroscopy and high-resolution electron microscopy, which revealed a very rough surface of as-prepared single powder particles with structures of 1 to 2 nm. Upon 1-h annealing at temperatures between 300 and 600 °C, circular contrast features, 1.5 to 2.5 nm in size, are observed in the amorphous particles, which show medium-range order. A distinct onset of crystallization is observed at 700 °C with structures ranging from very small crystalline ordered regions of 2.5-3.5 nm in size to fast-grown multiple-twinned crystallites. The crystallization behavior is influenced by the clusters that form primary particles. Observed sintering behavior cannot be explained by a classical approach; hence, theoretical models need to be adapted to nanosized powders.
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| 9. |
- Hammarsjo, A, et al.
(författare)
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Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
- 2017
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 15585-
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Tidskriftsartikel (refereegranskat)abstract
- The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia. The manifestations in our patients are variable and ranging from fetal lethal to viable and moderate skeletal dysplasia with narrow thorax and abnormal metaphyses. We demonstrate that KIAA0753 is expressed in normal fetal human growth plate and show that the affected fetus, with a compound heterozygous frameshift and a nonsense mutation in KIAA0753, has an abnormal proliferative zone and a broad hypertrophic zone. The importance of KIAA0753 for normal skeletal development is further confirmed by our findings that zebrafish embryos homozygous for a nonsense mutation in kiaa0753 display altered cartilage patterning.
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| 10. |
- Hofmeister, H., et al.
(författare)
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Atomic structure of amorphous nanosized silicon powders upon thermal treatment
- 1996
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Ingår i: Physical Review B Condensed Matter. - : American Physical Society (APS). - 0163-1829 .- 1095-3795. ; 54:4, s. 2856-2862
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Tidskriftsartikel (refereegranskat)abstract
- Amorphous silicon powders prepared by plasma-enhanced chemical vapor deposition, of 8-24-nm-sized particles agglomerated into larger aggregates were annealed in a reducing atmosphere to study the phase transformation behavior of these particles. High-resolution electron microscopy revealed a very rough surface, with structural details of 1 to 2 nm, of the as-prepared single powder particles. Upon l h annealing at temperatures between 300 and 600 °C circular contrast features, 1.5-2.5 nm in size, are observed in the amorphous particles, hinting to the formation of a medium-range order. A distinct onset of crystallization is achieved at 700 °C, with structures ranging from very small crystalline ordered regions of 2.5-3.5 nm in size, to fast-grown multiply twinned crystallites. Rapid progress of crystallization, mainly caused by growth twinning, is observed upon annealing at 800 °C. At 900 °C, almost completely crystalline particles are formed. The particles having lattice characteristics of diamond cubic silicon frequently exhibit a faulted structure, because of multiple twinning events. They are covered by an amorphous oxide shell of a 1.5 to 2 nm thickness, which is found to develop with the onset of crystallization. Size and surface roughness of the as-prepared powders are widely preserved throughout all stages of heating, and practically no sintering occurs up to 900 °C.
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