| 1. |
- Hillier, Ladeana W, et al.
(författare)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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Ingår i: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Tidskriftsartikel (refereegranskat)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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| 2. |
- Patterson, Nick, et al.
(författare)
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Large-scale migration into Britain during the Middle to Late Bronze Age
- 2022
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Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; , s. 588-594
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Tidskriftsartikel (refereegranskat)abstract
- Present-day people from England and Wales harbour more ancestry derived from Early European Farmers (EEF) than people of the Early Bronze Age1. To understand this, we generated genome-wide data from 793 individuals, increasing data from the Middle to Late Bronze and Iron Age in Britain by 12-fold, and Western and Central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of Iron Age people of England and Wales, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange2-6. There was comparatively less gene flow from continental Europe during the Iron Age, and Britain's independent genetic trajectory is also reflected in the rise of the allele conferring lactase persistence to ~50% by this time compared to ~7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
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| 3. |
- Dispenzieri, Angela, et al.
(författare)
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Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update
- 2022
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Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 17:1
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Tidskriftsartikel (refereegranskat)abstract
- Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.ClinicalTrials.gov Identifier: NCT00628745.
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| 4. |
- Granath, Gustaf, et al.
(författare)
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Environmental and taxonomic controls of carbon and oxygen stable isotope composition in Sphagnum across broad climatic and geographic ranges
- 2018
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Ingår i: Biogeosciences. - : Copernicus Publications. - 1726-4170 .- 1726-4189. ; 15:16, s. 5189-5202
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Tidskriftsartikel (refereegranskat)abstract
- Rain-fed peatlands are dominated by peat mosses (Sphagnum sp.), which for their growth depend on nutrients, water and CO2 uptake from the atmosphere. As the isotopic composition of carbon (C-12(,)13) and oxygen (O-16(,)18) of these Sphagnum mosses are affected by environmental conditions, Sphagnum tissue accumulated in peat constitutes a potential long-term archive that can be used for climate reconstruction. However, there is inadequate understanding of how isotope values are influenced by environmental conditions, which restricts their current use as environmental and palaeoenvironmental indicators. Here we tested (i) to what extent C and O isotopic variation in living tissue of Sphagnum is speciesspecific and associated with local hydrological gradients, climatic gradients (evapotranspiration, temperature, precipitation) and elevation; (ii) whether the C isotopic signature can be a proxy for net primary productivity (NPP) of Sphagnum; and (iii) to what extent Sphagnum tissue delta O-18 tracks the delta O-18 isotope signature of precipitation. In total, we analysed 337 samples from 93 sites across North America and Eurasia us ing two important peat-forming Sphagnum species (S. magellanicum, S. fuscum) common to the Holarctic realm. There were differences in delta C-13 values between species. For S. magellanicum delta C-13 decreased with increasing height above the water table (HWT, R-2 = 17 %) and was positively correlated to productivity (R-2 = 7 %). Together these two variables explained 46 % of the between-site variation in delta C-13 values. For S. fuscum, productivity was the only significant predictor of delta C-13 but had low explanatory power (total R-2 = 6 %). For delta O-18 values, approximately 90 % of the variation was found between sites. Globally modelled annual delta O-18 values in precipitation explained 69 % of the between-site variation in tissue delta O-18. S. magellanicum showed lower delta O-18 enrichment than S. fuscum (-0.83 %0 lower). Elevation and climatic variables were weak predictors of tissue delta O-18 values after controlling for delta O-18 values of the precipitation. To summarize, our study provides evidence for (a) good predictability of tissue delta O-18 values from modelled annual delta O-18 values in precipitation, and (b) the possibility of relating tissue delta C-13 values to HWT and NPP, but this appears to be species-dependent. These results suggest that isotope composition can be used on a large scale for climatic reconstructions but that such models should be species-specific.
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| 5. |
- Hannon, Eilis, et al.
(författare)
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DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia
- 2021
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Ingår i: eLIFE. - : eLife Sciences Publications. - 2050-084X. ; 10
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Tidskriftsartikel (refereegranskat)abstract
- We performed a systematic analysis of blood DNA methylation profiles from 4483 participants from seven independent cohorts identifying differentially methylated positions (DMPs) associated with psychosis, schizophrenia, and treatment-resistant schizophrenia. Psychosis cases were characterized by significant differences in measures of blood cell proportions and elevated smoking exposure derived from the DNA methylation data, with the largest differences seen in treatment-resistant schizophrenia patients. We implemented a stringent pipeline to meta-analyze epigenome-wide association study (EWAS) results across datasets, identifying 95 DMPs associated with psychosis and 1048 DMPs associated with schizophrenia, with evidence of colocalization to regions nominated by genetic association studies of disease. Many schizophrenia-associated DNA methylation differences were only present in patients with treatment-resistant schizophrenia, potentially reflecting exposure to the atypical antipsychotic clozapine. Our results highlight how DNA methylation data can be leveraged to identify physiological (e.g., differential cell counts) and environmental (e.g., smoking) factors associated with psychosis and molecular biomarkers of treatment-resistant schizophrenia.
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| 6. |
- Adhikari, Subash, et al.
(författare)
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A high-stringency blueprint of the human proteome
- 2020
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
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Forskningsöversikt (refereegranskat)abstract
- The Human Proteome Organization (HUPO) launched the Human Proteome Project (HPP) in 2010, creating an international framework for global collaboration, data sharing, quality assurance and enhancing accurate annotation of the genome-encoded proteome. During the subsequent decade, the HPP established collaborations, developed guidelines and metrics, and undertook reanalysis of previously deposited community data, continuously increasing the coverage of the human proteome. On the occasion of the HPP’s tenth anniversary, we here report a 90.4% complete high-stringency human proteome blueprint. This knowledge is essential for discerning molecular processes in health and disease, as we demonstrate by highlighting potential roles the human proteome plays in our understanding, diagnosis and treatment of cancers, cardiovascular and infectious diseases.
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| 7. |
- Bengtsson, Fia, 1986-, et al.
(författare)
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Environmental drivers of Sphagnum growth in peatlands across the Holarctic region
- 2021
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Ingår i: Journal of Ecology. - : John Wiley & Sons. - 0022-0477 .- 1365-2745. ; 109:1, s. 417-431
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Tidskriftsartikel (refereegranskat)abstract
- The relative importance of global versus local environmental factors for growth and thus carbon uptake of the bryophyte genusSphagnum-the main peat-former and ecosystem engineer in northern peatlands-remains unclear. We measured length growth and net primary production (NPP) of two abundantSphagnumspecies across 99 Holarctic peatlands. We tested the importance of previously proposed abiotic and biotic drivers for peatland carbon uptake (climate, N deposition, water table depth and vascular plant cover) on these two responses. Employing structural equation models (SEMs), we explored both indirect and direct effects of drivers onSphagnumgrowth. Variation in growth was large, but similar within and between peatlands. Length growth showed a stronger response to predictors than NPP. Moreover, the smaller and denserSphagnum fuscumgrowing on hummocks had weaker responses to climatic variation than the larger and looserSphagnum magellanicumgrowing in the wetter conditions. Growth decreased with increasing vascular plant cover within a site. Between sites, precipitation and temperature increased growth forS. magellanicum. The SEMs indicate that indirect effects are important. For example, vascular plant cover increased with a deeper water table, increased nitrogen deposition, precipitation and temperature. These factors also influencedSphagnumgrowth indirectly by affecting moss shoot density. Synthesis. Our results imply that in a warmer climate,S. magellanicumwill increase length growth as long as precipitation is not reduced, whileS. fuscumis more resistant to decreased precipitation, but also less able to take advantage of increased precipitation and temperature. Such species-specific sensitivity to climate may affect competitive outcomes in a changing environment, and potentially the future carbon sink function of peatlands.
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| 8. |
- Persson Waye, Kerstin, 1959, et al.
(författare)
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Rail freight vibration impacts sleep and community response: An overview of CargoVibes
- 2014
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Ingår i: ICBEN 2014, the 11th International Congress on Noise as a Public Health Problem. Nara, Japan, 2014 June 1 to June 5.
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The European Union funded CargoVibes project involving 10 partners from 8 nations has aimed to examine ground-borne vibration affecting residents close to freight railway lines. This poster presents an overview of the work package investigating human response to vibration, with particular focus on physiological and psychological impact on sleep, community annoyance and the development of guidance in evaluating response. The effects of vibration on sleep were measured in a series of laboratory trials at the University of Gothenburg. Existing field studies of community response were supplemented with further field work in the Netherlands and Poland, and a meta-analysis conducted to determine dose-response relationships for railway vibration. Numerous outcomes of vibration exposure were found, with physiological markers such as greater heart rate response and cortical reactions during sleep, and annoyance and sleep disturbance increasing with higher vibration amplitudes. A guidance document considering current state of the art regarding vibration measurement and assessment was produced pertaining to human perception, evaluation methods, annoyance, sleep impacts, and non-exposure factors. The outcomes of this work represent a significant advance in the understanding of the human response to railway vibration and a step towards a much needed harmonisation of assessment methods. The findings presented in this poster highlight the importance of considering environmental vibration in the planning, construction, and maintenance of railways in residential environments.
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| 9. |
- Waddington, David, et al.
(författare)
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Cargovibes: Human response to vibration due to freight rail trafiic
- 2015
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Ingår i: Proceedings of 22nd International Congress on Sound and Vibration, 12 - 16 July, Florence, Italy 2015. - : Informa UK Limited. ; 3:4, s. 233-48
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- The aim of this paper is to present an overview of the research concerning human response to vibration conducted in the EU FP7 CargoVibes project. The European Union funded pro-ject CargoVibes involved ten partners from eight nations and ran from April 2011 to April 2014. The project was concerned with railway-induced ground-borne vibration affecting res-idents close to freight lines, with one work package that investigated human response to vi-bration, including sleep disturbance, community annoyance, and the production of a best practice guide for evaluating response. Laboratory trials at the University of Gothenburg were used to measure the effects of vibration on sleep. Physiological and psychological im-pacts of vibration exposure were found. TNO led a meta-analysis (N = 4129) to determine exposure-response relationships for railway vibration, with existing data for community re-sponse supplemented with field studies in the Netherlands and Poland. The University of Salford led production of a guidance document that presents the state of the art regarding vi-bration measurement and assessment. Specific topics in the guide include human perception, evaluation methods, annoyance, sleep impacts, and non-exposure factors. The outcomes pre-sented in this paper represent a significant advance in the understanding of the human re-sponse to railway vibration and a step towards much needed harmonization of assessment methods.
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