| 1. |
- Tobias, Deirdre K, et al.
(författare)
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Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
- 2023
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Ingår i: Nature Medicine. - 1546-170X. ; 29:10, s. 2438-2457
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Forskningsöversikt (refereegranskat)abstract
- Precision medicine is part of the logical evolution of contemporary evidence-based medicine that seeks to reduce errors and optimize outcomes when making medical decisions and health recommendations. Diabetes affects hundreds of millions of people worldwide, many of whom will develop life-threatening complications and die prematurely. Precision medicine can potentially address this enormous problem by accounting for heterogeneity in the etiology, clinical presentation and pathogenesis of common forms of diabetes and risks of complications. This second international consensus report on precision diabetes medicine summarizes the findings from a systematic evidence review across the key pillars of precision medicine (prevention, diagnosis, treatment, prognosis) in four recognized forms of diabetes (monogenic, gestational, type 1, type 2). These reviews address key questions about the translation of precision medicine research into practice. Although not complete, owing to the vast literature on this topic, they revealed opportunities for the immediate or near-term clinical implementation of precision diabetes medicine; furthermore, we expose important gaps in knowledge, focusing on the need to obtain new clinically relevant evidence. Gaps include the need for common standards for clinical readiness, including consideration of cost-effectiveness, health equity, predictive accuracy, liability and accessibility. Key milestones are outlined for the broad clinical implementation of precision diabetes medicine.
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| 2. |
- An, Junghwa, et al.
(författare)
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Permanent Genetic Resources added to Molecular Ecology Resources Database 1 October 2009-30 November 2009
- 2010
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Ingår i: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 10:2, s. 404-408
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Tidskriftsartikel (refereegranskat)abstract
- This article documents the addition of 411 microsatellite marker loci and 15 pairs of Single Nucleotide Polymorphism (SNP) sequencing primers to the Molecular Ecology Resources Database. Loci were developed for the following species: Acanthopagrus schlegeli, Anopheles lesteri, Aspergillus clavatus, Aspergillus flavus, Aspergillus fumigatus, Aspergillus oryzae, Aspergillus terreus, Branchiostoma japonicum, Branchiostoma belcheri, Colias behrii, Coryphopterus personatus, Cynogolssus semilaevis, Cynoglossus semilaevis, Dendrobium officinale, Dendrobium officinale, Dysoxylum malabaricum, Metrioptera roeselii, Myrmeciza exsul, Ochotona thibetana, Neosartorya fischeri, Nothofagus pumilio, Onychodactylus fischeri, Phoenicopterus roseus, Salvia officinalis L., Scylla paramamosain, Silene latifo, Sula sula, and Vulpes vulpes. These loci were cross-tested on the following species: Aspergillus giganteus, Colias pelidne, Colias interior, Colias meadii, Colias eurytheme, Coryphopterus lipernes, Coryphopterus glaucofrenum, Coryphopterus eidolon, Gnatholepis thompsoni, Elacatinus evelynae, Dendrobium loddigesii Dendrobium devonianum, Dysoxylum binectariferum, Nothofagus antarctica, Nothofagus dombeyii, Nothofagus nervosa, Nothofagus obliqua, Sula nebouxii, and Sula variegata. This article also documents the addition of 39 sequencing primer pairs and 15 allele specific primers or probes for Paralithodes camtschaticus.
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| 3. |
- Anderson, Cynthia M., et al.
(författare)
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Permanent Genetic Resources added to Molecular Ecology Resources Database 1 December 2009-31 January 2010
- 2010
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Ingår i: Molecular Ecology Resources. - : Wiley. - 1755-098X .- 1755-0998. ; 10:3, s. 576-579
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Tidskriftsartikel (refereegranskat)abstract
- This article documents the addition of 220 microsatellite marker loci to the Molecular Ecology Resources Database. Loci were developed for the following species: Allanblackia floribunda, Amblyraja radiata, Bactrocera cucurbitae, Brachycaudus helichrysi, Calopogonium mucunoides, Dissodactylus primitivus, Elodea canadensis, Ephydatia fluviatilis, Galapaganus howdenae howdenae, Hoplostethus atlanticus, Ischnura elegans, Larimichthys polyactis, Opheodrys vernalis, Pelteobagrus fulvidraco, Phragmidium violaceum, Pistacia vera, and Thunnus thynnus. These loci were cross-tested on the following species: Allanblackia gabonensis, Allanblackia stanerana, Neoceratitis cyanescens, Dacus ciliatus, Dacus demmerezi, Bactrocera zonata, Ceratitis capitata, Ceratitis rosa, Ceratits catoirii, Dacus punctatifrons, Ephydatia mulleri, Spongilla lacustris, Geodia cydonium, Axinella sp., Ischnura graellsii, Ischnura ramburii, Ischnura pumilio, Pistacia integerrima and Pistacia terebinthus.
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| 4. |
- Felix, Janine F, et al.
(författare)
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Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
- 2016
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Ingår i: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 25:2, s. 389-403
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Tidskriftsartikel (refereegranskat)abstract
- A large number of genetic loci are associated with adult body mass index. However, the genetics of childhood body mass index are largely unknown. We performed a meta-analysis of genome-wide association studies of childhood body mass index, using sex- and age-adjusted standard deviation scores. We included 35 668 children from 20 studies in the discovery phase and 11 873 children from 13 studies in the replication phase. In total, 15 loci reached genome-wide significance (P-value < 5 × 10(-8)) in the joint discovery and replication analysis, of which 12 are previously identified loci in or close to ADCY3, GNPDA2, TMEM18, SEC16B, FAIM2, FTO, TFAP2B, TNNI3K, MC4R, GPR61, LMX1B and OLFM4 associated with adult body mass index or childhood obesity. We identified three novel loci: rs13253111 near ELP3, rs8092503 near RAB27B and rs13387838 near ADAM23. Per additional risk allele, body mass index increased 0.04 Standard Deviation Score (SDS) [Standard Error (SE) 0.007], 0.05 SDS (SE 0.008) and 0.14 SDS (SE 0.025), for rs13253111, rs8092503 and rs13387838, respectively. A genetic risk score combining all 15 SNPs showed that each additional average risk allele was associated with a 0.073 SDS (SE 0.011, P-value = 3.12 × 10(-10)) increase in childhood body mass index in a population of 1955 children. This risk score explained 2% of the variance in childhood body mass index. This study highlights the shared genetic background between childhood and adult body mass index and adds three novel loci. These loci likely represent age-related differences in strength of the associations with body mass index.
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| 5. |
- Ikram, M. Arfan, et al.
(författare)
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Common variants at 6q22 and 17q21 are associated with intracranial volume
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:5, s. 539-544
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Tidskriftsartikel (refereegranskat)abstract
- During aging, intracranial volume remains unchanged and represents maximally attained brain size, while various interacting biological phenomena lead to brain volume loss. Consequently, intracranial volume and brain volume in late life reflect different genetic influences. Our genome-wide association study (GWAS) in 8,175 community-dwelling elderly persons did not reveal any associations at genome-wide significance (P < 5 x 10(-8)) for brain volume. In contrast, intracranial volume was significantly associated with two loci: rs4273712 (P = 3.4 x 10(-11)), a known height-associated locus on chromosome 6q22, and rs9915547 (P = 1.5 x 10(-12)), localized to the inversion on chromosome 17q21. We replicated the associations of these loci with intracranial volume in a separate sample of 1,752 elderly persons (P = 1.1 x 10(-3) for 6q22 and 1.2 x 10(-3) for 17q21). Furthermore, we also found suggestive associations of the 17q21 locus with head circumference in 10,768 children (mean age of 14.5 months). Our data identify two loci associated with head size, with the inversion at 17q21 also likely to be involved in attaining maximal brain size.
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| 6. |
- López-Blanco, Charo, et al.
(författare)
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Lake-level changes and fire history at Lagunillo del Tejo (Spain) during the last millennium: Climate or humans?
- 2012
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Ingår i: The Holocene. - : SAGE Publications. - 0959-6836 .- 1477-0911. ; 22:5, s. 551-560
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Tidskriftsartikel (refereegranskat)abstract
- Hydroclimatic variability is expected to be affected by global warming in the Mediterranean region where climate, fire and human activities are known to be interdependent. The latter is examined here for the past millennium by studying paleoenvironmental indicators from a sedimentary sequence at Lagunillo del Tejo (Cuenca, central Spain). Inferred changes in fire activity and lake levels are based on records of macrocharcoals and plant/algal macrofossils, respectively, and are compared with independent information on climate change and socio-economical transformations from historical and meteorological records. The results show that there is an obvious climatic forcing behind the lake-level changes recorded at Lagunillo del Tejo, and a good correlation between the periods of high fire activity/frequent fires and low lake level/drought conditions. The reconstructed fire regime may therefore be natural (climate-induced), but can also be explained by important socio-economical events/changes, including wars and the introduction of the Transhumance practices (ad 1273). There is a good chronological agreement between lowest fire activity and high lake levels (c. ad 1600–1800), concurrent with the late ‘Little Ice Age’ (LIA) and the collapse of the Transhumance system. We propose that periods of drought favored both natural and human-induced fires during the ‘Medieval Climatic Anomaly’ (around ad 1200), at the start of the LIA (around ad 1400), in the middle of the LIA (sixteenth century) and during the entire nineteenth century. This record is an example of long-term interplay between climate changes and human activities and its impact on environmental changes such as fire regimes.
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| 7. |
- Marquer, Laurent, et al.
(författare)
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Quantifying the effects of land use and climate on Holocene vegetation in Europe
- 2017
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Ingår i: Quaternary Science Reviews. - : Pergamon Press. - 0277-3791 .- 1873-457X. ; 171, s. 20-37
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Tidskriftsartikel (refereegranskat)abstract
- Early agriculture can be detected in palaeovegetation records, but quantification of the relative importance of climate and land use in influencing regional vegetation composition since the onset of agriculture is a topic that is rarely addressed. We present a novel approach that combines pollen-based REVEALS estimates of plant cover with climate, anthropogenic land-cover and dynamic vegetation modelling results. This is used to quantify the relative impacts of land use and climate on Holocene vegetation at a sub-continental scale, i.e. northern and western Europe north of the Alps. We use redundancy analysis and variation partitioning to quantify the percentage of variation in vegetation composition explained by the climate and land-use variables, and Monte Carlo permutation tests to assess the statistical significance of each variable. We further use a similarity index to combine pollen based REVEALS estimates with climate-driven dynamic vegetation modelling results. The overall results indicate that climate is the major driver of vegetation when the Holocene is considered as a whole and at the sub-continental scale, although land use is important regionally. Four critical phases of land-use effects on vegetation are identified. The first phase (from 7000 to 6500 BP) corresponds to the early impacts on vegetation of farming and Neolithic forest clearance and to the dominance of climate as a driver of vegetation change. During the second phase (from 4500 to 4000 BP), land use becomes a major control of vegetation. Climate is still the principal driver, although its influence decreases gradually. The third phase (from 2000 to 1500 BP) is characterised by the continued role of climate on vegetation as a consequence of late-Holocene climate shifts and specific climate events that influence vegetation as well as land use. The last phase (from 500 to 350 BP) shows an acceleration of vegetation changes, in particular during the last century, caused by new farming practices and forestry in response to population growth and industrialization. This is a unique signature of anthropogenic impact within the Holocene but European vegetation remains climatically sensitive and thus may continue to respond to ongoing climate change. (C) 2017 Elsevier Ltd. All rights reserved.
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| 8. |
- Nikulina, Anastasia, et al.
(författare)
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Tracking Hunter-Gatherer Impact on Vegetation in Last Interglacial and Holocene Europe : Proxies and Challenges
- 2022
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Ingår i: Journal of archaeological method and theory. - : Springer Nature. - 1072-5369 .- 1573-7764. ; 29, s. 989-1033
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Tidskriftsartikel (refereegranskat)abstract
- We review palaeoenvironmental proxies and combinations of these relevant for understanding hunter-gatherer niche construction activities in pre-agricultural Europe. Our approach consists of two steps: (1) identify the possible range of hunter-gatherer impacts on landscapes based on ethnographic studies; (2) evaluate proxies possibly reflecting these impacts for both the Eemian (Last Interglacial, Middle Palaeolithic) and the Early-Middle Holocene (Mesolithic). We found these paleoenvironmental proxies were not able to unequivocally establish clear-cut differences between specific anthropogenic, climatic and megafaunal impacts for either time period in this area. We discuss case studies for both periods and show that published evidence for Mesolithic manipulation of landscapes is based on the interpretation of comparable data as available for the Last Interglacial. If one applies the 'Mesolithic' interpretation schemes to the Neanderthal record, three common niche construction activities can be hypothesised: vegetation burning, plant manipulation and impact on animal species presence and abundance. Our review suggests that as strong a case can be made for a Neanderthal impact on landscapes as for anthropogenic landscape changes during the Mesolithic, even though the Neanderthal evidence comes from only one high-resolution site complex. Further research should include attempts (e.g. by means of modelling studies) to establish whether hunter-gatherer impact on landscapes played out at a local level only versus at a larger scale during both time periods, while we also need to obtain comparative data on the population sizes of Last Interglacial and Holocene hunter-gatherers, as these are usually inferred to have differed significantly.
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| 9. |
- Ronkainen, Justiina, et al.
(författare)
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LongITools: Dynamic longitudinal exposome trajectories in cardiovascular and metabolic noncommunicable diseases
- 2022
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Ingår i: Environmental Epidemiology. - 2474-7882. ; 6:1
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Tidskriftsartikel (refereegranskat)abstract
- The current epidemics of cardiovascular and metabolic noncommunicable diseases have emerged alongside dramatic modifications in lifestyle and living environments. These correspond to changes in our "modern" postwar societies globally characterized by rural-to-urban migration, modernization of agricultural practices, and transportation, climate change, and aging. Evidence suggests that these changes are related to each other, although the social and biological mechanisms as well as their interactions have yet to be uncovered. LongITools, as one of the 9 projects included in the European Human Exposome Network, will tackle this environmental health equation linking multidimensional environmental exposures to the occurrence of cardiovascular and metabolic noncommunicable diseases.
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| 10. |
- Stephens, Lucas, et al.
(författare)
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Archaeological assessment reveals Earth’s early transformation through land use
- 2019
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Ingår i: Science. - : American Association for the Advancement of Science. - 0036-8075 .- 1095-9203. ; 365:6456, s. 897-902
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Tidskriftsartikel (refereegranskat)abstract
- Humans began to leave lasting impacts on Earth’s surface starting 10,000 to 8000 years ago. Through a synthetic collaboration with archaeologists around the globe, Stephens et al. compiled a comprehensive picture of the trajectory of human land use worldwide during the Holocene (see the Perspective by Roberts). Hunter-gatherers, farmers, and pastoralists transformed the face of Earth earlier and to a greater extent than has been widely appreciated, a transformation that was essentially global by 3000 years before the present.Science, this issue p. 897; see also p. 865Environmentally transformative human use of land accelerated with the emergence of agriculture, but the extent, trajectory, and implications of these early changes are not well understood. An empirical global assessment of land use from 10,000 years before the present (yr B.P.) to 1850 CE reveals a planet largely transformed by hunter-gatherers, farmers, and pastoralists by 3000 years ago, considerably earlier than the dates in the land-use reconstructions commonly used by Earth scientists. Synthesis of knowledge contributed by more than 250 archaeologists highlighted gaps in archaeological expertise and data quality, which peaked for 2000 yr B.P. and in traditionally studied and wealthier regions. Archaeological reconstruction of global land-use history illuminates the deep roots of Earth’s transformation and challenges the emerging Anthropocene paradigm that large-scale anthropogenic global environmental change is mostly a recent phenomenon.
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