| 1. |
- Abbafati, Cristiana, et al.
(författare)
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- 2020
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Tidskriftsartikel (refereegranskat)
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| 2. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)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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| 3. |
- Abdo, A. A., et al.
(författare)
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OBSERVATIONS OF MILKY WAY DWARF SPHEROIDAL GALAXIES WITH THE FERMI-LARGE AREA TELESCOPE DETECTOR AND CONSTRAINTS ON DARK MATTER MODELS
- 2010
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 712:1, s. 147-158
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Tidskriftsartikel (refereegranskat)abstract
- We report on the observations of 14 dwarf spheroidal galaxies (dSphs) with the Fermi Gamma-Ray Space Telescope taken during the first 11 months of survey mode operations. The Fermi telescope, which is conducting an all-sky gamma-ray survey in the 20 MeV to > 300 GeV energy range, provides a new opportunity to test particle dark matter models through the expected gamma-ray emission produced by pair annihilation of weakly interacting massive particles (WIMPs). Local Group dSphs, the largest galactic substructures predicted by the cold dark matter scenario, are attractive targets for such indirect searches for dark matter because they are nearby and among the most extreme dark matter dominated environments. No significant gamma-ray emission was detected above 100 MeV from the candidate dwarf galaxies. We determine upper limits to the gamma-ray flux assuming both power-law spectra and representative spectra from WIMP annihilation. The resulting integral flux above 100 MeV is constrained to be at a level below around 10(-9) photons cm(-2) s(-1). Using recent stellar kinematic data, the gamma-ray flux limits are combined with improved determinations of the dark matter density profile in eight of the 14 candidate dwarfs to place limits on the pair-annihilation cross section of WIMPs in several widely studied extensions of the standard model, including its supersymmetric extension and other models that received recent attention. With the present data, we are able to rule out large parts of the parameter space where the thermal relic density is below the observed cosmological dark matter density and WIMPs (neutralinos here) are dominantly produced non-thermally, e. g., in models where supersymmetry breaking occurs via anomaly mediation. The gamma-ray limits presented here also constrain some WIMP models proposed to explain the Fermi and PAMELA e(+)e(-) data, including low-mass wino-like neutralinos and models with TeV masses pair annihilating into muon-antimuon pairs.
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| 4. |
- Davies, Katherine Rebecca, et al.
(författare)
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Solar light-driven simultaneous pharmaceutical pollutant degradation and green hydrogen production using a mesoporous nanoscale WO 3 /BiVO 4 heterostructure photoanode
- 2023
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Ingår i: Journal of Environmental Chemical Engineering. - 2213-3437 .- 2213-2929. ; 11:3
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Tidskriftsartikel (refereegranskat)abstract
- Photoelectrocatalysis is one of the most favourable techniques that could be used in this remit as it has the potential to utilise natural sunlight to generate oxidants in situ to mediate effective pollutant degradation. This work, therefore, utilises a mesoporous nanoscale WO3/BiVO4 heterostructure photoanode to effectively degrade ibuprofen in wastewater combined with simultaneous green hydrogen generation at the cathode under simulated sunlight. A near complete degradation (>96%) of ibuprofen (starting concentration of 100 mg/L), with no hazardous intermediates (determined via mass spectrometry analysis), along with simultaneous H2 evolution of 114 µmol/cm2 after 145 min was demonstrated in this work. In addition, intermediate product analysis, the role of the type of in situ oxidants on degradation, the mechanistic pathway of degradation, and the material characteristics of mesoporous photoanode were also investigated. First experimental evidence of in situ generated H2O2 contributing to the degradation of ibuprofen is presented.
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| 5. |
- Fresard, Laure, et al.
(författare)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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Ingår i: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Tidskriftsartikel (refereegranskat)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 6. |
- Horikoshi, Momoko, et al.
(författare)
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New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:1
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Tidskriftsartikel (refereegranskat)abstract
- Birth weight within the normal range is associated with a variety of adult-onset diseases, but the mechanisms behind these associations are poorly understood. Previous genome-wide association studies of birth weight identified a variant in the ADCY5 gene associated both with birth weight and type 2 diabetes and a second variant, near CCNL1, with no obvious link to adult traits. In an expanded genome-wide association meta-analysis and follow-up study of birth weight (of up to 69,308 individuals of European descent from 43 studies), we have now extended the number of loci associated at genome-wide significance to 7, accounting for a similar proportion of variance as maternal smoking. Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. Our findings highlight genetic links between fetal growth and postnatal growth and metabolism.
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| 7. |
- Mukanga, David, et al.
(författare)
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Access, acceptability and utilization of community health workers using diagnostics for case management of fever in Ugandan children : a cross-sectional study
- 2012
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Ingår i: Malaria Journal. - : Springer Science and Business Media LLC. - 1475-2875. ; 11, s. 121-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Use of diagnostics in integrated community case management (iCCM) of fever is recognized as an important step in improving rational use of drugs and quality of care for febrile under-five children. This study assessed household access, acceptability and utilization of community health workers (CHWs) trained and provided with malaria rapid diagnostic tests (RDTs) and respiratory rate timers (RRTs) to practice iCCM. Methods: A total of 423 households with under-five children were enrolled into the study in Iganga district, Uganda. Households were selected from seven villages in Namungalwe sub-county using probability proportionate to size sampling. A semi-structured questionnaire was administered to caregivers in selected households. Data were entered into Epidata statistical software, and analysed using SPSS Statistics 17.0, and STATA version 10. Results: Most (86%, 365/423) households resided within a kilometre of a CHW's home, compared to 26% (111/423) residing within 1 km of a health facility (p<0.001). The median walking time by caregivers to a CHW was 10 minutes (IQR 5-20). The first option for care for febrile children in the month preceding the survey was CHWs (40%, 242/601), followed by drug shops (33%, 196/601). Fifty-seven percent (243/423) of caregivers took their febrile children to a CHW at least once in the three month period preceding the survey. Households located 1-3 km from a health facility were 72% (AOR 1.72; 95% CI 1.11-2.68) more likely to utilize CHW services compared to households within 1 km of a health facility. Households located 1-3 km from a CHW were 81% (AOR 0.19; 95% CI 0.10-0.36) less likely to utilize CHW services compared to those households residing within 1 km of a CHW. A majority (79%, 336/423) of respondents thought CHWs services were better with RDTs, and 89% (375/423) approved CHWs' continued use of RDTs. Eighty-six percent (209/243) of respondents who visited a CHW thought RRTs were useful. Conclusion: ICCM with diagnostics is acceptable, increases access, and is the first choice for caregivers of febrile children. More than half of caregivers of febrile children utilized CHW services over a three-month period. However, one-third of caregivers used drug shops in spite of the presence of CHWs.
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| 8. |
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| 9. |
- Peltzer, Karl, et al.
(författare)
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Prevalence of loss of all teeth (Edentulism) and associated factors in older adults in China, Ghana, India, Mexico, Russia and South Africa
- 2014
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Ingår i: International Journal of Environmental Research and Public Health. - Basel, Switzerland : MDPI AG. - 1661-7827 .- 1660-4601. ; 11:11, s. 11308-11324
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Tidskriftsartikel (refereegranskat)abstract
- Little information exists about the loss of all one's teeth (edentulism) among older adults in low- and middle-income countries. This study examines the prevalence of edentulism and associated factors among older adults in a cross-sectional study across six such countries. Data from the World Health Organization (WHO's) Study on global AGEing and adult health (SAGE) Wave 1 was used for this study with adults aged 50-plus from China (N = 13,367), Ghana (N = 4724), India (N = 7150), Mexico (N = 2315), Russian Federation (N = 3938) and South Africa (N = 3840). Multivariate regression was used to assess predictors of edentulism. The overall prevalence of edentulism was 11.7% in the six countries, with India, Mexico, and Russia has higher prevalence rates (16.3%-21.7%) than China, Ghana, and South Africa (3.0%-9.0%). In multivariate logistic analysis sociodemographic factors (older age, lower education), chronic conditions (arthritis, asthma), health risk behaviour (former daily tobacco use, inadequate fruits and vegetable consumption) and other health related variables (functional disability and low social cohesion) were associated with edentulism. The national estimates and identified factors associated with edentulism among older adults across the six countries helps to identify areas for further exploration and targets for intervention.
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| 10. |
- Ramani-Chander, Anusha, et al.
(författare)
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Applying systems thinking to identify enablers and challenges to scale-up interventions for hypertension and diabetes in low-income and middle-income countries : protocol for a longitudinal mixed-methods study
- 2022
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Ingår i: BMJ Open. - : BMJ Publishing Group Ltd. - 2044-6055. ; 12
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: There is an urgent need to reduce the burden of non-communicable diseases (NCDs), particularly in low-and middle-income countries, where the greatest burden lies. Yet, there is little research concerning the specific issues involved in scaling up NCD interventions targeting low-resource settings. We propose to examine this gap in up to 27 collaborative projects, which were funded by the Global Alliance for Chronic Diseases (GACD) 2019 Scale Up Call, reflecting a total funding investment of approximately US$50 million. These projects represent diverse countries, contexts and adopt varied approaches and study designs to scale-up complex, evidence-based interventions to improve hypertension and diabetes outcomes. A systematic inquiry of these projects will provide necessary scientific insights into the enablers and challenges in the scale up of complex NCD interventions.Methods and analysis: We will apply systems thinking (a holistic approach to analyse the inter-relationship between constituent parts of scaleup interventions and the context in which the interventions are implemented) and adopt a longitudinal mixed-methods study design to explore the planning and early implementation phases of scale up projects. Data will be gathered at three time periods, namely, at planning (T-P), initiation of implementation (T-0) and 1-year postinitiation (T-1). We will extract project-related data from secondary documents at T-P and conduct multistakeholder qualitative interviews to gather data at T-0 and T-1. We will undertake descriptive statistical analysis of T-P data and analyse T-0 and T-1 data using inductive thematic coding. The data extraction tool and interview guides were developed based on a literature review of scale-up frameworks.Ethics and dissemination: The current protocol was approved by the Monash University Human Research Ethics Committee (HREC number 23482). Informed consent will be obtained from all participants. The study findings will be disseminated through peer-reviewed publications and more broadly through the GACD network.
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