| 1. |
- Burrascano, S., et al.
(författare)
-
Where are we now with European forest multi-taxon biodiversity and where can we head to?
- 2023
-
Ingår i: Biological Conservation. - 0006-3207. ; 284
-
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.
|
|
| 2. |
- Hammarsjo, A, et al.
(författare)
-
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
- 2017
-
Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 7:1, s. 15585-
-
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.
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Nilsson, D., et al.
(författare)
-
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
-
Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 38:2, s. 180-192
-
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.
|
|
| 7. |
|
|
| 8. |
- Sorokina, E. S., et al.
(författare)
-
Sapphire-bearing magmatic rocks trace the boundary between paleo-continents: A case study of Ilmenogorsky alkaline complex, Uralian collision zone of Russia
- 2021
-
Ingår i: Gondwana Research. - : Elsevier BV. - 1342-937X. ; 92, s. 239-252
-
Tidskriftsartikel (refereegranskat)abstract
- Metamorphic gem corundum (mainly ruby) deposits are robust indicators of continent-continent collision processes. However, a systematic link of primary magmatic blue sapphire occurrences to orogenic belts is less understood. An example is the Ilmenogorsky alkaline complex, within the Ilmen Mountains region and part of the Uralian orogenic belt. The mobile belt is a product of the collision among Kazakhstania, Laurussia, and Siberia continents prior to the closure of the Paleo-Uralian ocean and formation of the Laurasia supercontinent (330-250 Ma). It is believed that the alkaline complex became included into the separate SysertskIlmenogorsk microcontinent with unconstrained borders, when sandwiched between Kazakhstania and Laurussia during that collision. Paleo-reconstructions illustrate that magmatic and metasomatic sapphire deposits linked to alkaline magmatism trace the natural boundary of the "lost" microcontinent with a high precision. The syenite pegmatites of alkaline complex carried unusually large corundum-blue sapphire megacrysts that have recorded the multi-stage development of the Ilmenogorsky complex. The deposits were formed at about 275-295 Ma ago as reconstructed by in situ LA-ICP-MS U-Pb zircon dating. This formation stage corresponds to a broader continental collision process followed by the formation of Uralian orogeny in the area of the Ilmenogorsky complex. One pegmatite deposit, the "298" mine, is characterized by the occurrence of unusually large corundum megacrysts. The analyses of Rb-Sr isotopic system in the rocks from this deposit revealed two isochrons at 249 +/- 2 Ma and 254 +/- 22 Ma implying a late stage modification of original pegmatites. The timing of this stage corresponds to the limited post-collision stretching time. Hence, corundum-blue sapphire studied from magmatic (syenites) and metasomatic rocks linked to alkaline rocks in Uralian orogen suggests as a promising indicator for constraining the timing of continent-to-continent collision processes. (c) 2021 International Association for Gondwana Research. Published by Elsevier B.V. All rights reserved.
|
|
| 9. |
- Vaz, R, et al.
(författare)
-
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
- 2019
-
Ingår i: International journal of molecular sciences. - : MDPI AG. - 1422-0067. ; 20:6
-
Tidskriftsartikel (refereegranskat)abstract
- For the past few years there has been an exponential increase in the use of animal models to confirm the pathogenicity of candidate disease-causing genetic variants found in patients. One such animal model is the zebrafish. Despite being a non-mammalian animal, the zebrafish model has proven its potential in recapitulating the phenotypes of many different human genetic disorders. This review will focus on recent advances in the modeling of neurodevelopmental disorders in zebrafish, covering aspects from early brain development to techniques used for modulating gene expression, as well as how to best characterize the resulting phenotypes. We also review other existing models of neurodevelopmental disorders, and the current efforts in developing and testing compounds with potential therapeutic value.
|
|
| 10. |
- Weis, J., et al.
(författare)
-
Sensitivity to change of the EORTC quality of life module measuring cancer-related fatigue (EORTC QlQ-Fa12): Results from the international psychometric validation
- 2019
-
Ingår i: Psycho-Oncology. - : Wiley. - 1057-9249 .- 1099-1611. ; 28, s. 1753-1761
-
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.
|
|
