| 1. |
- Anderson, Beverley H., et al.
(författare)
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
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Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
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| 2. |
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| 3. |
- Di Giglio, A., et al.
(författare)
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Towards the distributed core for ubiquitous superfast broadband optical access
- 2014
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Ingår i: 2014 European Conference on Networks and Communications (EuCNC). ; , s. 1-5
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Konferensbidrag (refereegranskat)abstract
- In this paper, we describe recent architectural and technological advances of the end to end optical network architecture proposed by the DISCUS project (the DIStributed Core for unlimited bandwidth supply for all Users and Services). The two main targets of DISCUS are the principle of equivalence in the access and the reduction of optical-to-electronic conversions in the metro-core network. Technological advances and techno-economic evaluation of Long-Reach Passive Optical Networks (LR-PON), as well as the optimal metro-core node architecture and the required network control plane framework are reported. Network infrastructure sharing challenges are also discussed.
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| 4. |
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| 5. |
- Lindgren, Hanna S., et al.
(författare)
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Putaminal Upregulation of FosB/ΔFosB-Like Immunoreactivity in Parkinson's Disease Patients with Dyskinesia
- 2011
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Ingår i: Journal of Parkinson's Disease. - : IOS Press. - 1877-7171 .- 1877-718X. ; 1:4, s. 347-357
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Tidskriftsartikel (refereegranskat)abstract
- The transcription factor FosB is a mediator of maladaptive neuroplasticity in animal models of Parkinson´s disease (PD) and L-DOPA-induced dyskinesia. Using an antibody that recognizes all known isoforms of FosB and FosB, we have examined the expression of these proteins in post-mortem basal ganglia sections from PD patients. The patient cases were classified as being dyskinetic or non-dyskinetic based on their clinical records. Sections from neurologically healthy controls were also included in the study. Compared to both controls and non-dyskinetic cases, the dyskinetic group showed a higher density of FosB/ FosB-immunopositive cells in the posterior putamen, which represents the motor region of the striatum in primates. In contrast, the number of FosB/ FosB-positive cells did not differ significantly among the groups in the caudate, a region primarily involved with the processing of cognitive and limbic-related information. Only sparse FosB/ FosB immunoreactivity was found in the in the pallidum externum and internum, and no significant group differences were detected in these nuclei. The putaminal elevation of FosB/ FosB-like immunoreactivity in patients who had been affected by L-DOPA-induced dyskinesia is consistent with results from both rat and non-human primate models of this movement disorder. The present findings support the hypothesis of an involvement of FosB-related transcription factors in the molecular mechanisms of L-DOPA-induced dyskinesia.
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| 6. |
- London, Lis E. E., et al.
(författare)
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Exopolysaccharide-producing probiotic Lactobacilli reduce serum cholesterol and modify enteric microbiota in ApoE-deficient mice
- 2014
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Ingår i: Journal of Nutrition. - Bethesda : American Society for Nutrition. - 0022-3166 .- 1541-6100. ; 144:12
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Tidskriftsartikel (refereegranskat)abstract
- Background: Probiotic bacteria have been associated with a reduction in cardiovascular disease risk, a leading cause of death and disability.Objectives: The aim of this study was to assess the impact of dietary administration of exopolysaccharide-producing probiotic Lactobacillus cultures on lipid metabolism and gut microbiota in apolipoprotein E (apoE)-deficient mice.Methods: First, we examined lipid metabolism in response to dietary supplementation with recombinant β-glucan-producing Lactobacillus paracasei National Food Biotechnology Centre (NFBC) 338 expressing the glycosyltransferase (Gtf) gene from Pediococcus parvulus 2.6 (GTF), and naturally exopolysaccharide-producing Lactobacillus mucosae Dairy Product Culture Collection (DPC) 6426 (DPC 6426) compared with the non-β-glucan-producing isogenic control strain Lactobacillus paracasei NFBC 338 (PNZ) and placebo (15% wt:vol trehalose). Second, we examined the effects on the gut microbiota of dietary administration of DPC 6426 compared with placebo. Probiotic Lactobacillus strains at 1 × 10(9) colony-forming units/d per animal were administered to apoE(-/-) mice fed a high-fat (60% fat)/high-cholesterol (2% wt:wt) diet for 12 wk. At the end of the study, aortic plaque development and serum, liver, and fecal variables involved in lipid metabolism were analyzed, and culture-independent microbial analyses of cecal content were performed.Results: Total cholesterol was reduced in serum (P < 0.001; ∼33-50%) and liver (P < 0.05; ∼30%) and serum triglyceride concentrations were reduced (P < 0.05; ∼15-25%) in mice supplemented with GTF or DPC 6426 compared with the PNZ or placebo group, respectively. In addition, dietary intervention with GTF led to increased amounts of fecal cholesterol excretion (P < 0.05) compared with all other groups. Compositional sequencing of the gut microbiota revealed a greater prevalence of Porphyromonadaceae (P = 0.001) and Prevotellaceae (P = 0.001) in the DPC 6426 group and lower proportions of Clostridiaceae (P < 0.05), Peptococcaceae (P < 0.001), and Staphylococcaceae (P < 0.01) compared with the placebo group.Conclusion: Ingestion of exopolysaccharide-producing lactobacilli resulted in seemingly favorable improvements in lipid metabolism, which were associated with changes in the gut microbiota of mice.
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| 7. |
- Ruffini, M, et al.
(författare)
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DISCUS : The Distributed Core For Ubiquitous Broadband Access
- 2013
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Ingår i: Future Network and MobileSummit 2013.
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Konferensbidrag (refereegranskat)abstract
- A new end to end architecture based on Long-Reach Passive OpticalNetwork (LR-PON) with wireless integration, a distributed core built of opticaltransparency islands and an OpenFlow-based control plane, which is beingdeveloped in the EU project DISCUS, is described in this paper. The maintechnological advances and the network modelling and optimization approach arereported.
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| 8. |
- Ruffini, M., et al.
(författare)
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DISCUS : An End-to-End Solution for Ubiquitous Broadband Optical Access
- 2014
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Ingår i: IEEE Communications Magazine. - 0163-6804 .- 1558-1896. ; 52:2, s. S24-S32
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Tidskriftsartikel (refereegranskat)abstract
- Fiber to the premises has promised to increase the capacity in telecommunications access networks for well over 30 years. While it is widely recognized that optical-fiber-based access networks will be a necessity in the shortto medium-term future, its large upfront cost and regulatory issues are pushing many operators to further postpone its deployment, while installing intermediate unambitious solutions such as fiber to the cabinet. Such high investment cost of both network access and core capacity upgrade often derives from poor planning strategies that do not consider the necessity to adequately modify the network architecture to fully exploit the cost benefit that a fiber-centric solution can bring. DISCUS is a European Framework 7 Integrated Project that, building on optical-centric solutions such as long-reach passive optical access and flat optical core, aims to deliver a cost-effective architecture for ubiquitous broadband services. DISCUS analyzes, designs, and demonstrates end-to-end architectures and technologies capable of saving cost and energy by reducing the number of electronic terminations in the network and sharing the deployment costs among a larger number of users compared to current fiber access systems. This article describes the network architecture and the supporting technologies behind DISCUS, giving an overview of the concepts and methodologies that will be used to deliver our end-to-end network solution.
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