| 1. |
- Engert, Andreas, et al.
(författare)
-
The European Hematology Association Roadmap for European Hematology Research : a consensus document
- 2016
-
Ingår i: Haematologica. - Pavia, Italy : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 101:2, s. 115-208
-
Tidskriftsartikel (refereegranskat)abstract
- The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at (sic)23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
|
|
| 2. |
|
|
| 3. |
- Watson, Hunna J., et al.
(författare)
-
Common Genetic Variation and Age of Onset of Anorexia Nervosa
- 2022
-
Ingår i: BIOLOGICAL PSYCHIATRY: GLOBAL OPEN SCIENCE. - : Elsevier BV. - 2667-1743. ; 2:4, s. 368-378
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.METHODS: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (,13 years), and typical-onset AN, and genetic correlation, genetic risk score, and Mendelian randomization analyses.RESULTS: Two loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism-h2) were 0.01-0.04 for age of onset, 0.16-0.25 for early-onset AN, and 0.17-0.25 for typical-onset AN. Early-and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early -onset AN.CONCLUSIONS: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
|
|
| 4. |
- Barthel, Stephan, 1968-, et al.
(författare)
-
Food and Green Space in Cities : A Resilience Lens on Gardens and Urban Environmental Movements
- 2015
-
Ingår i: Urban Studies. - : SAGE Publications. - 0042-0980 .- 1360-063X. ; 52:7, s. 1321-1338
-
Tidskriftsartikel (refereegranskat)abstract
- This article examines the role played by urban gardens during historical collapses in urban food supply lines and identifies the social processes required to protect two crit- ical elements of urban food production during times of crisis - open green spaces and the collective memory of how to grow food. Advanced communication and transport technologies allow food sequestration from the farthest reaches of the planet, but have markedly increasing urban dependence on global food systems over the past 50 years. Simultaneously, such advances have eroded collective memory of food production, while suitable spaces for urban gardening have been lost. These factors combine to heighten the potential for food shortages when - as occurred in the 20th century - major economic, political or environmental crises sever supply lines to urban areas. This paper considers how to govern urban areas sustainably in order to ensure food security in times of crisis by: evincing the effectiveness of urban gardening during crises; showing how allotment gardens serve as conduits for transmitting collective social-ecological memories of food production; and, discussing roles and strategies of urban environmental movements for protecting urban green space. Urban gardening and urban social movements can build local ecological and social response capacity against major collapses in urban food supplies. Hence, they should be incorporated as central elements of sustainable urban development. Urban governance for resilience should be historically informed about major food crises and allow for redundant food production solutions as a response to uncertain futures.
|
|
| 5. |
- Barthel, Stephan, et al.
(författare)
-
Urban gardens : pockets of social-ecological memory
- 2014
-
Ingår i: Greening in the Red Zone. - Dordrecht : Springer Netherlands. - 9789048199464 - 9789048199471 ; , s. 145-158
-
Bokkapitel (refereegranskat)abstract
- It is well known that urban allotment gardens provide important ecosystem services. Their potential to act as sources of local resilience during times of crisis is less appreciated, despite the role they have played as areas of food security during times of crisis in history. Their ability to provide such relief, however, requires that the skills and knowledge needed for effective gardening can be transmitted over time and across social groups. In short, some portion of urban society must remember how to grow food. This chapter proposes that collectively managed gardens function as ‘pockets’ of social-ecological memory in urban landscapes by storing the knowledge and experience required to grow food. Allotment gardeners operate as ‘communities of practice’ with ecosystem stewardship reflecting long-term, dynamic interactions between community members and gardening sites. Social-ecological memories about food production and past crises are retained and transmitted through habits, traditions, informal institutions, artifacts and the physical structure of the gardens themselves. Allotment gardens thus serve as incubators of social-ecological knowledge with experiences that can be accessed and transferred to other land uses in times of crisis, contributing to urban resilience. Conversely, failure to protect these pockets of social-ecological memory could result in a collective ‘forgetting’ of important social-ecological knowledge and reduce social-ecological resilience.
|
|
| 6. |
- Benner, Axel, et al.
(författare)
-
MDM2 promotor polymorphism and disease characteristics in chronic lymphocytic leukemia : results of an individual patient data-based meta-analysis
- 2014
-
Ingår i: Haematologica. - : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 99:8, s. 1285-1291
-
Tidskriftsartikel (refereegranskat)abstract
- A number of single nucleotide polymorphisms have been associated with disease predisposition in chronic lymphocytic leukemia. A single nucleotide polymorphism in the MDM2 promotor region, MDM2SNP309, was shown to soothe the p53 pathway. In the current study, we aimed to clarify the effect of the MDM2SNP309 on chronic lymphocytic leukemia characteristics and outcome. We performed a meta-analysis of data from 2598 individual patients from 10 different cohorts. Patients' data and genetic analysis for MDM2SNP309 genotype, immunoglobulin heavy chain variable region mutation status and fluorescence in situ hybridization results were collected. There were no differences in overall survival based on the polymorphism (log rank test, stratified by study cohort; P=0.76; GG genotype: cohort-adjusted median overall survival of 151 months; TG: 153 months; TT: 149 months). In a multivariable Cox proportional hazards regression analysis, advanced age, male sex and unmutated immunoglobulin heavy chain variable region genes were associated with inferior survival, but not the MDM2 genotype. The MDM2SNP309 is unlikely to influence disease characteristics and prognosis in chronic lymphocytic leukemia. Studies investigating the impact of individual single nucleotide polymorphisms on prognosis are often controversial. This may be due to selection bias and small sample size. A meta-analysis based on individual patient data provides a reasonable strategy for prognostic factor analyses in the case of small individual studies. Individual patient data-based meta-analysis can, therefore, be a powerful tool to assess genetic risk factors in the absence of large studies.
|
|
| 7. |
- Fenstermacher, M.E., et al.
(författare)
-
DIII-D research advancing the physics basis for optimizing the tokamak approach to fusion energy
- 2022
-
Ingår i: Nuclear Fusion. - : IOP Publishing. - 0029-5515 .- 1741-4326. ; 62:4
-
Tidskriftsartikel (refereegranskat)abstract
- DIII-D physics research addresses critical challenges for the operation of ITER and the next generation of fusion energy devices. This is done through a focus on innovations to provide solutions for high performance long pulse operation, coupled with fundamental plasma physics understanding and model validation, to drive scenario development by integrating high performance core and boundary plasmas. Substantial increases in off-axis current drive efficiency from an innovative top launch system for EC power, and in pressure broadening for Alfven eigenmode control from a co-/counter-I p steerable off-axis neutral beam, all improve the prospects for optimization of future long pulse/steady state high performance tokamak operation. Fundamental studies into the modes that drive the evolution of the pedestal pressure profile and electron vs ion heat flux validate predictive models of pedestal recovery after ELMs. Understanding the physics mechanisms of ELM control and density pumpout by 3D magnetic perturbation fields leads to confident predictions for ITER and future devices. Validated modeling of high-Z shattered pellet injection for disruption mitigation, runaway electron dissipation, and techniques for disruption prediction and avoidance including machine learning, give confidence in handling disruptivity for future devices. For the non-nuclear phase of ITER, two actuators are identified to lower the L-H threshold power in hydrogen plasmas. With this physics understanding and suite of capabilities, a high poloidal beta optimized-core scenario with an internal transport barrier that projects nearly to Q = 10 in ITER at ∼8 MA was coupled to a detached divertor, and a near super H-mode optimized-pedestal scenario with co-I p beam injection was coupled to a radiative divertor. The hybrid core scenario was achieved directly, without the need for anomalous current diffusion, using off-axis current drive actuators. Also, a controller to assess proximity to stability limits and regulate β N in the ITER baseline scenario, based on plasma response to probing 3D fields, was demonstrated. Finally, innovative tokamak operation using a negative triangularity shape showed many attractive features for future pilot plant operation.
|
|
| 8. |
- Frantz, Laurent A. F., et al.
(författare)
-
Ancient pigs reveal a near-complete genomic turnover following their introduction to Europe
- 2019
-
Ingår i: Proceedings of the National Academy of Sciences of the United States of America. - : Proceedings of the National Academy of Sciences. - 0027-8424 .- 1091-6490. ; 116:35, s. 17231-17238
-
Tidskriftsartikel (refereegranskat)abstract
- Archaeological evidence indicates that pig domestication had begun by similar to 10,500 y before the present ( BP) in the Near East, and mitochondrial DNA ( mtDNA) suggests that pigs arrived in Europe alongside farmers similar to 8,500 y BP. A few thousand years after the introduction of Near Eastern pigs into Europe, however, their characteristic mtDNA signature disappeared and was replaced by haplotypes associated with European wild boars. This turnover could be accounted for by substantial gene flow from local European wild boars, although it is also possible that European wild boars were domesticated independently without any genetic contribution from the Near East. To test these hypotheses, we obtained mtDNA sequences from 2,099 modern and ancient pig samples and 63 nuclear ancient genomes from Near Eastern and European pigs. Our analyses revealed that European domestic pigs dating from 7,100 to 6,000 y BP possessed both Near Eastern and European nuclear ancestry, while later pigs possessed no more than 4% Near Eastern ancestry, indicating that gene flow from European wild boars resulted in a near-complete disappearance of Near East ancestry. In addition, we demonstrate that a variant at a locus encoding black coat color likely originated in the Near East and persisted in European pigs. Altogether, our results indicate that while pigs were not independently domesticated in Europe, the vast majority of human-mediated selection over the past 5,000 y focused on the genomic fraction derived from the European wild boars, and not on the fraction that was selected by early Neolithic farmers over the first 2,500 y of the domestication process.
|
|
| 9. |
|
|
| 10. |
- Rios, Erkuden, et al.
(författare)
-
Cloud technology options towards Free Flow of Data
- 2017
-
Rapport (populärvet., debatt m.m.)abstract
- This whitepaper collects the technology solutions that the projects in the Data Protection, Security and Privacy Cluster propose to address the challenges raised by the working areas of the Free Flow of Data initiative. The document describes the technologies, methodologies, models, and tools researched and developed by the clustered projects mapped to the ten areas of work of the Free Flow of Data initiative. The aim is to facilitate the identification of the state-of-the-art of technology options towards solving the data security and privacy challenges posed by the Free Flow of Data initiative in Europe. The document gives reference to the Cluster, the individual projects and the technologies produced by them.
|
|
| 11. |
- Sandsten, Maria, et al.
(författare)
-
Cultural conformity and persistence in Dickcissel song are higher in locations in which males show high site fidelity
- 2022
-
Ingår i: Ornithology. - : Oxford University Press (OUP). - 0004-8038 .- 2732-4613. ; 139:1
-
Tidskriftsartikel (refereegranskat)abstract
- Dickcissel (Spiza americana) males occupying territories in cropland sites produced songs that were less similar on average to other Dickcissel songs in their neighborhood than did Dickcissels living in grasslands, where conformity to the local vocal culture was higher. Further, Dickcissel vocal culture changed more quickly over time in cropland sites relative to grassland sites. These differences may have resulted from the lower site fidelity we observed in Dickcissel males in cropland sites relative to grassland sites. We expected this link with site fidelity because we hypothesized that conformity to local culture in Oscine songbirds and the persistence of culture over time and space are promoted by habitats that facilitate stable populations. In contrast, sites in which habitat features cause rapid population turnover provide more territory vacancies and so more opportunities for colonization. Colonization should drive cultural change, either through adult colonists importing foreign cultural variants or young colonists making errors as they learn the local song. This potential link between population turnover and cultural stability may apply to animal cultures more broadly and so may be a fruitful area for further research. Besides the link between site fidelity and cultural change over time, we also investigated the possibility that habitats with different levels of site fidelity might show differences in the spatial scale of song similarity. However, we found no evidence of such a difference. Finally, although our conclusions regarding conformity and change in vocal culture were based on many recorded songs, automated assessments of song similarity imprecisely estimated the overall degree of song similarity. Thus, we may have underestimated the strength of the effects of time and distance on song similarity.
|
|
| 12. |
- Speliotes, Elizabeth K., et al.
(författare)
-
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
- 2010
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 42:11, s. 937-948
-
Tidskriftsartikel (refereegranskat)abstract
- Obesity is globally prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined associations between body mass index and ~2.8 million SNPs in up to 123,865 individuals with targeted follow up of 42 SNPs in up to 125,931 additional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci associated with body mass index (P < 5 × 10−8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly associated loci may provide new insights into human body weight regulation.
|
|
| 13. |
- Stephan, Ute, et al.
(författare)
-
Act or Wait-and-See? Adversity, Agility, and Entrepreneur Wellbeing across Countries during the COVID-19 Pandemic
- 2023
-
Ingår i: Entrepreneurship. - : Sage Publications. - 1042-2587 .- 1540-6520. ; 47:3, s. 682-723
-
Tidskriftsartikel (refereegranskat)abstract
- How can entrepreneurs protect their wellbeing during a crisis? Does engaging agility (namely, opportunity agility and planning agility) in response to adversity help entrepreneurs safeguard their wellbeing? Activated by adversity, agility may function as a specific resilience mechanism enabling positive adaption to crisis. We studied 3162 entrepreneurs from 20 countries during the COVID-19 pandemic and found that more severe national lockdowns enhanced firm-level adversity for entrepreneurs and diminished their wellbeing. Moreover, entrepreneurs who combined opportunity agility with planning agility experienced higher wellbeing but planning agility alone lowered wellbeing. Entrepreneur agility offers a new agentic perspective to research on entrepreneur wellbeing.
|
|
| 14. |
- Stephan, Ute, et al.
(författare)
-
Agility or Wait-and-See? : How the Covid-19 Crisis Impacts Entrepreneurs’ Well-being across Countries
- 2021
-
Ingår i: Academy of management annual meeting proceedings. - Briarcliff Manor, NY, USA : Academy of Management.
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- We study how entrepreneurs and their well-being are impacted by crises and which entrepreneurs are able to safeguard their well-being. We examine the impact of the Covid-19 pandemic in a multilevel study of 3,149 entrepreneurs from 20 countries and draw attention to entrepreneur agility (flexible and adaptive action) both as a crisis response strategy and as a possible way for entrepreneurs to protect their well-being. We find that agile entrepreneurs, especially those that recognized new opportunities for their business in the pandemic, had better well-being during the pandemic (life satisfaction and vitality). Our findings offer further insights into agility as a response to adversity and whether it is enabled by cultural contexts supporting agility and entrepreneurs? human capital.
|
|
