| 1. |
- 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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| 2. |
- Strandvik, Birgitta, 1938, et al.
(författare)
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Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.
- 2001
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Ingår i: Genetic testing. - : Mary Ann Liebert Inc. - 1090-6576 .- 1557-7473. ; 5:3, s. 235-42
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Tidskriftsartikel (refereegranskat)abstract
- Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant DeltaF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
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| 3. |
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| 4. |
- Markiewicz, Anna, 1984, et al.
(författare)
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Emissions of organic pollutants from traffic and roads : Priority pollutants selection and substance flow analysis
- 2017
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 580, s. 1162-1174
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Tidskriftsartikel (refereegranskat)abstract
- A large number of organic pollutants (OPs) emitted from vehicles and traffic-related activities exhibit environmental persistence and a tendency to bioaccumulate, and may have detrimental long-term effects on aquatic life. The aim of the study was to establish a list of significant sources of OPs occurring in road runoff, identify the OPs emitted from these sources, select a number of priority pollutants (PP), and estimate the quantity of PPs emitted in a road environment case study using substance flow analysis (SFA). The priority pollutants included in the SFA were selected from a list of approximately 1100 compounds found after comprehensive screening, including literature and database searches, expert judgments, the Ranking and Identification of Chemical Hazards method, and chemical analysis of sediments. The results showed the following priority order: polycyclic aromatic hydrocarbons (PAHs) > alkanes C20–C40 > alkylphenols > phthalates > aldehydes > phenolic antioxidants > bisphenol A > oxygenated-PAHs > naphtha C5–C12 > amides > amines. Among these, PAHs were chosen for a SFA, which was performed for a highway case study area in Gothenburg (Sweden). The SFA showed that the main sources of PAHs emitted in the area were vehicle exhaust gases, followed by tyre wear, motor lubricant oils, road surface wear, and brake linings. Only 2–6% of the total 5.8–29 kg annually emitted PAHs/ha ended up in the stormwater sewer system. The measured PAH loads were found in much smaller amounts than the calculated loads and the outflow to stormwater contained much more of the hazardous PAHs than the total loads emitted in the catchment area.
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| 5. |
- Markiewicz, Anna, 1984, et al.
(författare)
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Generation of nano- and micro-sized organic pollutant emulsions in simulated road runoff
- 2019
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Ingår i: Environment International. - : Elsevier. - 0160-4120 .- 1873-6750. ; 133, s. 1-12
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Tidskriftsartikel (refereegranskat)abstract
- A wide range of organic pollutants (OPs) are emitted from the road and traffic environment and transported with road runoff to receiving waters. To provide an understanding of the transport routes of OPs in the environment, an investigation was carried out with the aim to determine whether OPs are transported with nano- and microparticles in the form of emulsions. Tests were performed on simulated road runoff, using laboratory prepared mixtures of ultrapure water and specific polycyclic aromatic hydrocarbons (PAHs), alkylphenols (APs) and their ethoxylates (APEOs), phthalates, diesel oil (aliphatic hydrocarbons), with and without addition of humic acid (HA) and iron (Fe) colloids. The samples were analysed directly after mixing and after a few days of stabilisation for particle size distribution (PSD) and concentrations of particles in the size range 10 nm-100 mu m, and zeta potential> +/- 500 mV. Further, after long-term storage to achieve stabilisation, selected samples were investigated for the PSD and particle concentrations in the ranges 10 nm-2 mu m, to determine whether stable emulsions had formed. The following simulation mixtures, both mixed and stabilised, were identified as potential emulsions: diesel, APs and APEOs, diesel with APs and APEOS, phthalates, and a mixture of all OPs with and without colloids. Measurements with the Zetasizer and Nanosight instruments imply that the majority of particles in the samples were found in the nano-range of 30-660 nm respectively, and a smaller portion of particles < 28% also measured with Coulter Counter were found to be micro-sized. Higher concentrations of the smallest nanoparticles were found in the mixture of all OPs without colloids added, than in the OP mixture with colloids added. The results indicate that the addition of colloids favours the formation of larger micro-sized emulsions that may break down with time into nano-sized particles. In the mixed samples, the number of micro-sized particles decreased, while the number of nanoparticles increased; this process may also occur in road runoff transportation systems during heavy rain events. This is the first study to indicate that emulsions of OPs may be formed in road runoff, and that emulsions may act as carriers of OPs in urban stormwater.
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