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- 2019
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Tidskriftsartikel (refereegranskat)
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| 3. |
- Surendran, Praveen, et al.
(författare)
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
- 2020
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 52:12, s. 1314-1332
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Tidskriftsartikel (refereegranskat)abstract
- Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency <= 0.01) variant BP associations (P < 5 x 10(-8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.
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| 4. |
- Leebens-Mack, James H., et al.
(författare)
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One thousand plant transcriptomes and the phylogenomics of green plants
- 2019
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Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; 574:7780, s. 679-
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Tidskriftsartikel (refereegranskat)abstract
- Green plants (Viridiplantae) include around 450,000-500,000 species(1,2) of great diversity and have important roles in terrestrial and aquatic ecosystems. Here, as part of the One Thousand Plant Transcriptomes Initiative, we sequenced the vegetative transcriptomes of 1,124 species that span the diversity of plants in a broad sense (Archaeplastida), including green plants (Viridiplantae), glaucophytes (Glaucophyta) and red algae (Rhodophyta). Our analysis provides a robust phylogenomic framework for examining the evolution of green plants. Most inferred species relationships are well supported across multiple species tree and supermatrix analyses, but discordance among plastid and nuclear gene trees at a few important nodes highlights the complexity of plant genome evolution, including polyploidy, periods of rapid speciation, and extinction. Incomplete sorting of ancestral variation, polyploidization and massive expansions of gene families punctuate the evolutionary history of green plants. Notably, we find that large expansions of gene families preceded the origins of green plants, land plants and vascular plants, whereas whole-genome duplications are inferred to have occurred repeatedly throughout the evolution of flowering plants and ferns. The increasing availability of high-quality plant genome sequences and advances in functional genomics are enabling research on genome evolution across the green tree of life.
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| 5. |
- Sawcer, Stephen, et al.
(författare)
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 476:7359, s. 214-219
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Tidskriftsartikel (refereegranskat)abstract
- Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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| 6. |
- Duffy, J. Emmett, et al.
(författare)
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A Pleistocene legacy structures variation in modern seagrass ecosystems
- 2022
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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. ; 119:32
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Tidskriftsartikel (refereegranskat)abstract
- Distribution of Earth's biomes is structured by the match between climate and plant traits, which in turn shape associated communities and ecosystem processes and services. However, that climate-trait match can be disrupted by historical events, with lasting ecosystem impacts. As Earth's environment changes faster than at any time in human history, critical questions are whether and how organismal traits and ecosystems can adjust to altered conditions. We quantified the relative importance of current environmental forcing versus evolutionary history in shaping the growth form (stature and biomass) and associated community of eelgrass (Zostera marina), a widespread foundation plant of marine ecosystems along Northern Hemisphere coastlines, which experienced major shifts in distribution and genetic composition during the Pleistocene. We found that eelgrass stature and biomass retain a legacy of the Pleistocene colonization of the Atlantic from the ancestral Pacific range and of more recent within-basin bottlenecks and genetic differentiation. This evolutionary legacy in turn influences the biomass of associated algae and invertebrates that fuel coastal food webs, with effects comparable to or stronger than effects of current environmental forcing. Such historical lags in phenotypic acclimatization may constrain ecosystem adjustments to rapid anthropogenic climate change, thus altering predictions about the future functioning of ecosystems.
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| 7. |
- Hornborg, Anne-Christine, et al.
(författare)
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Designing Enchanted Rituals for Modern Man
- 2021
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Ingår i: The Palgrave Handbook of Anthropological Ritual Studies. - Cham : Springer International Publishing. - 9783030768249 - 9783030768256 ; , s. 255-274
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Bokkapitel (refereegranskat)abstract
- This article discusses a new form of rituals, marketed as coaching or layman therapeutic practices, focusing on self-development and healing, which rapidly expanded in the early 2000s in Sweden. The targets of these rituals are individuals and workplaces, buying these and similar formalized practices. Questions raised include: How do these rituals reflect the structure of society? How are they designed to be experienced as natural means for the participants to heal and gain better self-confidence? What are the visions and goals that are implicitly built into these practices and communicated as models for society and the individual? Finally, the chapter analyzes two performers and how they design their individual-centered rituals, aiming to give therapeutic healing or to increase personal capacity at work.
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| 8. |
- Casanueva, Felipe F., et al.
(författare)
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Criteria for the definition of Pituitary Tumor Centers of Excellence (PTCOE): A Pituitary Society Statement
- 2017
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Ingår i: Pituitary. - : Springer Science and Business Media LLC. - 1386-341X .- 1573-7403. ; 20, s. 489-498
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Forskningsöversikt (refereegranskat)abstract
- © 2017, The Author(s). Introduction: With the goal of generate uniform criteria among centers dealing with pituitary tumors and to enhance patient care, the Pituitary Society decided to generate criteria for developing Pituitary Tumors Centers of Excellence (PTCOE). Methods: To develop that task, a group of ten experts served as a Task Force and through two years of iterative work an initial draft was elaborated. This draft was discussed, modified and finally approved by the Board of Directors of the Pituitary Society. Such document was presented and debated at a specific session of the Congress of the Pituitary Society, Orlando 2017, and suggestions were incorporated. Finally the document was distributed to a large group of global experts that introduced further modifications with final endorsement. Results: After five years of iterative work a document with the ideal criteria for a PTCOE is presented. Conclusions: Acknowledging that very few centers in the world, if any, likely fulfill the requirements here presented, the document may be a tool to guide improvements of care delivery to patients with pituitary disorders. All these criteria must be accommodated to the regulations and organization of Health of a given country.
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| 9. |
- Lane, Deirdre A, et al.
(författare)
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Cardiac tachyarrhythmias and patient values and preferences for their management : the European Heart Rhythm Association (EHRA) consensus document endorsed by the Heart Rhythm Society (HRS), Asia Pacific Heart Rhythm Society (APHRS), and Sociedad Latinoamericana de Estimulación Cardíaca y Electrofisiología (SOLEACE).
- 2015
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Ingår i: Europace. - : Oxford University Press (OUP). - 1099-5129 .- 1532-2092. ; 17:12, s. 1747-1769
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Tidskriftsartikel (refereegranskat)abstract
- Cardiac tachyarrhythmias are recurrent or chronic and in some cases life-threatening conditions. Heart rhythm disturbances are often highly symptomatic and the psychological impact of the disease can be significant. Patients' beliefs and knowledge about their health (and illness), medications, and healthcare they receive are important determinants of whether or not they accept recommended treatments; influence their coping responses to their illness and treatment; adherence to recommended therapy; and ultimately affects health outcomes. Incorporation of patients' values and preferences for therapy should now be considered as an integral part of the decision-making process and treatment strategy.It is important to acknowledge and understand the impact of cardiac tachyarrhythmias on the patient. To address this issue, a Task Force was convened by the European Heart Rhythm Association (EHRA), and endorsed by the Heart Rhythm Society (HRS), Asia-Pacific Heart Rhythm Society (APHRS), and Sociedad Latinoamericana de Estimulación Cardíaca y Electrofisiología (SOLEACE), with the remit to comprehensively review the published evidence available, to publish a joint consensus document on patient values and preferences for the management of cardiac tachyarrhythmias, and to provide up-to-date consensus recommendations for use in clinical practice.Hence this unique consensus document focuses on patients, summarizing the available literature on patients' experiences of living with various cardiac tachyarrhythmias and their treatment preferences, and identifies gaps in knowledge which will help to inform clinical practice and future research. The document will also summarize key points for discussions with patients during consultations regarding their condition, treatment options, disease trajectory, treatment goals, and outcomes. Finally, this document provides links to useful resources and patient advocacy groups and organizations and professional societies relevant to each group of cardiac tachyarrhythmias.
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| 10. |
- Stewart-Koster, Ben, et al.
(författare)
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Living within the safe and just Earth system boundaries for blue water
- 2024
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Ingår i: Nature Sustainability. - 2398-9629. ; 7:1, s. 53-63
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Tidskriftsartikel (refereegranskat)abstract
- Safe and just Earth system boundaries (ESBs) for surface water and groundwater (blue water) have been defined for sustainable water management in the Anthropocene. Here we assessed whether minimum human needs could be met with surface water from within individual river basins alone and, where this is not possible, quantified how much groundwater would be required. Approximately 2.6 billion people live in river basins where groundwater is needed because they are already outside the surface water ESB or have insufficient surface water to meet human needs and the ESB. Approximately 1.4 billion people live in river basins where demand-side transformations would be required as they either exceed the surface water ESB or face a decline in groundwater recharge and cannot meet minimum needs within the ESB. A further 1.5 billion people live in river basins outside the ESB, with insufficient surface water to meet minimum needs, requiring both supply- and demand-side transformations. These results highlight the challenges and opportunities of meeting even basic human access needs to water and protecting aquatic ecosystems.
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