| 1. |
- Clark, Andrew G., et al.
(author)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Journal article (peer-reviewed)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 2. |
- Dima, Danai, et al.
(author)
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Subcortical volumes across the lifespan : Data from 18,605 healthy individuals aged 3-90 years.
- 2022
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In: Human Brain Mapping. - : Wiley. - 1065-9471 .- 1097-0193. ; 43:1, s. 452-469
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Journal article (peer-reviewed)abstract
- Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.
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| 3. |
- Fisher, Eleanor, et al.
(author)
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Gold Matters : Visualizing Mining Worlds
- 2023
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Book (pop. science, debate, etc.)abstract
- A book of photographs that centre on visualizing mining worlds, notably the worlds of artisanal and small-scale gold miners working in the Brazilian and Surinamese Amazon, and in parts of West and East Africa. Often this gold mining is portrayed in negative, stereotyped, and homogenizing ways. Since miners typically operate in the shadows of the law, their lifeways are remote from the public eye. Visualization by means of photgraphy helps bring to light the diversity of mining terrains and the close connections between miners and these terrains. Images presented in the book are the result of collaboration with gold miners for a project "Sustainability Transformations in Artisanal and Small-scale Gold Mining: Trans-Regional and Multi-Actor Perspectives" (2018-2022).
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| 4. |
- Fisher, Eleanor, et al.
(author)
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The lifeways of small-scale gold miners : Addressing sustainability transformations
- 2023
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In: Global Environmental Change. - 0959-3780 .- 1872-9495. ; 82
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Journal article (peer-reviewed)abstract
- Small-scale gold mining sustains millions of people’s lives and yet it stimulates environmental harms and social conflicts. Global environmental crises drive calls for fundamental change to how people live on the planet. For small-scale gold mining, this raises questions about whether current dynamics can provide a basis for sustainability transformations. Proposing the notion of gold lifeways to focus on the lived experience of mining and gold resources as relational phenomena, we ask what sustainability looks like from different miners’ perspectives and probe the practice dynamics of current transformation. Our methodology is social science-led and transdisciplinary. From multi-sited and trans-regional research between South America and Africa, we draw cases from Suriname, Guinea Conakry, and Uganda. Our study finds that gold lifeways give expression to different strands of sustainability: sustaining everyday life in mining; discourses framing mining practices; and government repression of mining. Hence, as our empirical data demonstrates, miner perspectives on sustainability gain content not in isolation, but as part of gold lifeways embedded within different contexts and shaped by societal dynamics. Ultimately, the transformative potency of small-scale gold mining is located in personal lives and precarious dynamics rather than glittering promises of a sustainable future.
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| 5. |
- Fisher, Eleanor, et al.
(author)
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Transforming matters : sustaining gold lifeways in artisanal and small-scale gold mining
- 2021
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In: Current Opinion in Environmental Sustainability. - Switzerland : Elsevier. - 1877-3435 .- 1877-3443. ; 49, s. 190-200
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Journal article (peer-reviewed)abstract
- Growth strategies in mining regions promote gold extraction based on industrial mining, associating Artisanal and Small-scale Gold Mining (ASGM) with persistent informality. Against this background, we consider how to approach transformations to sustainability in ASGM. Acknowledging how problematic this topic is for sustainability debates, given how ASGM is associated with a host of environmental and social problems, we argue that a justice lens demands we confront such challenges within the global politics of sustainability. This leads us to review advances in the study of ASGM, linked to debates on extractivism, resource materialities, and informality. We use the notion of gold lifeways to capture how the matter of mining shapes different worlds of extraction. We argue that consideration of the potential for transformations to sustainability needs to be grounded within the realities of ASGM. This necessitates giving value to miners’ knowledge(s), perspectives and interests, while recognising the plurality of mining futures. Nevertheless, we conclude that between the immediacy of precarious work and the structural barriers to change in ASGM, the challenges for transformation cannot be underestimated.
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| 6. |
- Frangou, Sophia, et al.
(author)
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Cortical thickness across the lifespan : Data from 17,075 healthy individuals aged 3-90 years
- 2022
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In: Human Brain Mapping. - : John Wiley & Sons. - 1065-9471 .- 1097-0193. ; 43:1, s. 431-451
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Journal article (peer-reviewed)abstract
- Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3-90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
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| 7. |
- Hayes, Mr Dexter Jl, et al.
(author)
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Effect of encouraging awareness of reduced fetal movement and subsequent clinical management on pregnancy outcome : A systematic review and meta-analysis
- 2023
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In: American Journal of Obstetrics & Gynecology MFM. - : Elsevier BV. - 2589-9333. ; 5:3
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Research review (peer-reviewed)abstract
- OBJECTIVE: Reduced fetal movement (RFM), defined as a decrease in maternal perception of frequency or strength of fetal movements, is a common reason for presentation to maternity care. Observational studies demonstrate an association between RFM, stillbirth, and fetal growth restriction related to placental insufficiency. However, individual intervention studies have described varying results. This systematic review and meta-analysis aimed to determine whether interventions aiming to encourage awareness of reduced fetal movement and/or improve its subsequent clinical management reduce the frequency of stillbirth or other important secondary outcomes.DATA SOURCES: Searches were conducted in MEDLINE, EMBASE, CINAHL, The Cochrane Library, Web of Science and Google Scholar. Guidelines, trial registries, and grey literature were also searched. Databases were searched from inception to the 20th January 2022.STUDY ELIGIBILITY CRITERIA: Randomised controlled trials (RCTs) and controlled non-randomised studies (NRS) were eligible if they assessed interventions aiming to encourage awareness of fetal movement or fetal movement counting and/or improve the subsequent clinical management of RFM. Eligible populations were singleton pregnancies after 24 completed weeks of gestation. The primary review outcome was stillbirth; a number of secondary maternal and neonatal outcomes were specified in the review.STUDY APPRAISAL AND SYNTHESIS METHODS: Risk of bias was assessed using Cochrane Risk of Bias 2 and ROBINS-I for RCTs and NRS respectively. Variation due to heterogeneity was assessed using I2. Data from studies employing similar interventions was combined using random effects meta-analysis.RESULTS: 1,609 citations were identified; 190 full text papers were evaluated against the inclusion criteria, 18 studies (16 RCTs and 2 NRS) were included. The evidence is uncertain about the effect of encouraging awareness of fetal movement on stillbirth compared with standard care (two studies, n=330,084); pooled aOR 1.19 (95% CI 0.96, 1.47). Interventions for encouraging awareness of fetal movement may be associated with a reduction in NICU admissions and Apgar scores <7 at five minutes of age and may not be associated with increases in caesarean section or induction of labour. The evidence is uncertain about the effect of encouraging fetal movement counting on stillbirth compared with standard care; pooled OR 0.69 (95% CI 0.18, 2.65), data from three RCTs (n=70,584). Counting fetal movements may increase maternal fetal attachment and decrease anxiety compared with standard care. When comparing combined interventions of fetal movement awareness and subsequent clinical management with standard care (one study, n=393,857) the evidence is uncertain about the effect on stillbirth (aOR 0.86, 95% CI 0.70, 1.05).CONCLUSIONS: The effect of interventions for encouraging awareness of RFM alone or in combination with subsequent clinical management on stillbirth is uncertain. Encouraging awareness of fetal movement may be associated with reduced adverse neonatal outcomes without an increase in interventions in labour. Meta-analysis is hampered by variation in interventions, outcome reporting and definitions. Individual studies are frequently underpowered to detect a reduction in severe, rare outcomes and no studies were included from high-burden settings. Studies from such settings are needed to determine whether interventions can reduce stillbirth.
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| 8. |
- Hibar, Derrek P., et al.
(author)
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Novel genetic loci associated with hippocampal volume
- 2017
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 8
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Journal article (peer-reviewed)abstract
- The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.
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| 9. |
- Jelenkovic, Aline, et al.
(author)
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Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age : A Study of the CODATwins Project
- 2015
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In: Twin Research and Human Genetics. - : Cambridge University Press. - 1832-4274 .- 1839-2628. ; 18:5, s. 557-570
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Journal article (peer-reviewed)abstract
- A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins), and included 842,951 height and BMI measurements from twins aged 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Similarly, a greater mean BMI of up to 0.3 kg/m(2) in childhood and adolescence and up to 0.2 kg/m(2) in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast, the variance of BMI was significantly higher in DZ than in MZ twins, particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes.
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| 10. |
- Lindblad-Toh, Kerstin, et al.
(author)
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Genome sequence, comparative analysis and haplotype structure of the domestic dog.
- 2005
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 438:7069, s. 803-19
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Journal article (peer-reviewed)abstract
- Here we report a high-quality draft genome sequence of the domestic dog (Canis familiaris), together with a dense map of single nucleotide polymorphisms (SNPs) across breeds. The dog is of particular interest because it provides important evolutionary information and because existing breeds show great phenotypic diversity for morphological, physiological and behavioural traits. We use sequence comparison with the primate and rodent lineages to shed light on the structure and evolution of genomes and genes. Notably, the majority of the most highly conserved non-coding sequences in mammalian genomes are clustered near a small subset of genes with important roles in development. Analysis of SNPs reveals long-range haplotypes across the entire dog genome, and defines the nature of genetic diversity within and across breeds. The current SNP map now makes it possible for genome-wide association studies to identify genes responsible for diseases and traits, with important consequences for human and companion animal health.
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