| 1. |
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| 2. |
- Birney, Ewan, et al.
(författare)
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Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 447:7146, s. 799-816
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Tidskriftsartikel (refereegranskat)abstract
- We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary and computational analyses. Together, our results advance the collective knowledge about human genome function in several major areas. First, our studies provide convincing evidence that the genome is pervasively transcribed, such that the majority of its bases can be found in primary transcripts, including non-protein-coding transcripts, and those that extensively overlap one another. Second, systematic examination of transcriptional regulation has yielded new understanding about transcription start sites, including their relationship to specific regulatory sequences and features of chromatin accessibility and histone modification. Third, a more sophisticated view of chromatin structure has emerged, including its inter-relationship with DNA replication and transcriptional regulation. Finally, integration of these new sources of information, in particular with respect to mammalian evolution based on inter- and intra-species sequence comparisons, has yielded new mechanistic and evolutionary insights concerning the functional landscape of the human genome. Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function.
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| 3. |
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| 4. |
- Klionsky, Daniel J., et al.
(författare)
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Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes
- 2008
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Ingår i: Autophagy. - : Landes Bioscience. - 1554-8627 .- 1554-8635. ; 4:2, s. 151-175
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Forskningsöversikt (refereegranskat)abstract
- Research in autophagy continues to accelerate,1 and as a result many new scientists are entering the field. Accordingly, it is important to establish a standard set of criteria for monitoring macroautophagy in different organisms. Recent reviews have described the range of assays that have been used for this purpose.2,3 There are many useful and convenient methods that can be used to monitor macroautophagy in yeast, but relatively few in other model systems, and there is much confusion regarding acceptable methods to measure macroautophagy in higher eukaryotes. A key point that needs to be emphasized is that there is a difference between measurements that monitor the numbers of autophagosomes versus those that measure flux through the autophagy pathway; thus, a block in macroautophagy that results in autophagosome accumulation needs to be differentiated from fully functional autophagy that includes delivery to, and degradation within, lysosomes (in most higher eukaryotes) or the vacuole (in plants and fungi). Here, we present a set of guidelines for the selection and interpretation of the methods that can be used by investigators who are attempting to examine macroautophagy and related processes, as well as by reviewers who need to provide realistic and reasonable critiques of papers that investigate these processes. This set of guidelines is not meant to be a formulaic set of rules, because the appropriate assays depend in part on the question being asked and the system being used. In addition, we emphasize that no individual assay is guaranteed to be the most appropriate one in every situation, and we strongly recommend the use of multiple assays to verify an autophagic response.
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| 5. |
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| 6. |
- Elsik, Christine G., et al.
(författare)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Tidskriftsartikel (refereegranskat)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 7. |
- Welch, J., et al.
(författare)
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The Allen Telescope Array: The First Widefield, Panchromatic, Snapshot Radio Camera for Radio Astronomy and SETI
- 2009
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Ingår i: Proceedings of the IEEE. - 1558-2256 .- 0018-9219. ; 97:8, s. 1438-1447
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Tidskriftsartikel (refereegranskat)abstract
- The first 42 elements of the Allen Telescope Array (ATA-42) are beginning to deliver data at the Hat Creek Radio Observatory in northern California. Scientists and engineers are actively exploiting all of the flexibility designed into this innovative instrument for simultaneously conducting surveys of the astrophysical sky and conducting searches for distant technological civilizations. This paper summarizes the design elements of the ATA, the cost savings made possible by the use of commercial off-the-shelf components, and the cost/performance tradeoffs that eventually enabled this first snapshot radio camera. The fundamental scientific program of this new telescope is varied and exciting; some of the first astronomical results will be discussed.
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| 9. |
- Hsieh, Yves S-Y, et al.
(författare)
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Structure and bioactivity of the polysaccharides in medicinal plant Dendrobium huoshanense
- 2008
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Ingår i: Bioorganic & Medicinal Chemistry. - : Elsevier. - 0968-0896 .- 1464-3391. ; 16:11, s. 6054-68
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Tidskriftsartikel (refereegranskat)abstract
- Detailed structures of the active polysaccharides extracted from the leaf and stem cell walls and mucilage of Dendrobium huoshanense are determined by using various techniques, including chromatographic, spectroscopic, chemical, and enzymatic methods. The mucilage polysaccharide exhibits specific functions in activating murine splenocytes to produce several cytokines including IFN-gamma, IL-10, IL-6, and IL-1alpha, as well as hematopoietic growth factors GM-CSF and G-CSF. However, the deacetylated mucilage obtained from an alkaline treatment fails to induce cytokine production. The structure and bioactivity of mucilage components are validated by further fractionation. This is the first study that provides clear evidence for the structure and activity relationship of the polysaccharide in D. huoshanense.
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| 10. |
- Brunner, M, et al.
(författare)
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Towards Ambient Networks Management
- 2005
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Ingår i: MOBILITY AWARE TECHNOLOGIES AND APPLICATIONS, PROCEEDINGS. - Berlin, Heidelberg : Springer Berlin Heidelberg. - 3540294104 ; , s. 215-229
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Konferensbidrag (refereegranskat)abstract
- Ambient Networks (AN) are under development and they are based on novel networking concepts and systems that will enable a wide range of user and business communication scenarios beyond today's fixed, 3(rd) generation mobile and IP standards. Central to this project is the concept of Ambient Control Space (ACS) and the Domain Manager control function, which manages the underlying data transfer capabilities and presents a set of interfaces towards the supported services and applications. Network Management Systems of Ambient Networks must work in an environment where heterogeneous networks compose and cooperate, on demand and transparently, without the need for manual (pre or re)-configuration or offline negotiations between network operators. To achieve these goals, ambient network management systems must become dynamic, distributed, self-managing and responsive to the network and its ambience. This paper describes the different management research challenges and four complementary solution approaches (i.e. Pattern-based Management, Peer-to-Peer Management, (Un)PnP Management, Traffic Engineering Management Application Approaches) that enable efficient management of ambient networks, and the relationships between them, and presents the main results achieved so far.
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| 18. |
- Chen, S., et al.
(författare)
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Coffin-Mansson equation of Sn-4.0Ag-0.5Cu solder joint
- 2009
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Ingår i: Soldering and Surface Mount Technology. - : Emerald. - 1758-6836 .- 0954-0911. ; 21:2, s. 48-54
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The purpose of this paper is to fit Coffin-Manson equation of Sn-4.0Ag-0.5Cu lead free solder joint by using results of solders joint reliability test and finite element analysis. Also to present a novel device for solder joint reliability test. Design/methodology/approach: Two-points bending test of Sn-4.0Ag-0.5Cu lead free solder joint was carried out at three deflection levels by using a special bending tester that can control displacement exactly by a cam system. The failure criterion was defined as resistance of solder joint getting 10 percent increase. The X-section was done for all failure samples to observe crack initiation and propagation in solder joint. Finite element analysis was presented with ANSYS for obtaining shear strain range, analyzing distribution of stress and strain and supporting experimental results. Findings: The experimental results indicate that the fatigue life decreased obviously with the displacement increased. By using optical microscope and SEM photographs, two kinds of failure mode were found in solder joint. The majority failure mode took place at the bottom corner of solder joint under the termination of resistor initially, and propagated into the solder matrix. Another failure mode was delamination. It appeared at the interface between the termination of resistor and its ceramic body. The distribution status of stress and strain in solder joint and the calculation results of shear strain range at different deflection levels were obtained from simulation result. The Coffin-Manson equation of Sn-4.0Ag-0.5Cu lead free solder joint was fitted by combining experimental data with result of finite element analysis. Originality/value: This paper presents Coffin-Manson equation of Sn-4.0Ag-0.5Cu solder joint with two-points bending test. An effective and economical device was designed and applied.
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| 19. |
- Cheng, Q, et al.
(författare)
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Clinical features of patients with multiple sclerosis from a survey in Shanghai, China
- 2008
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Ingår i: Multiple sclerosis (Houndmills, Basingstoke, England). - : SAGE Publications. - 1352-4585 .- 1477-0970. ; 14:5, s. 671-678
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Tidskriftsartikel (refereegranskat)abstract
- Objective To describe clinical features of patients with multiple sclerosis (MS) in Shanghai, China. Methods Prevalent patients with MS were identified and investigated by a network of physicians in 11 districts of Shanghai during the period from 1 September 2004 to 31 August 2005. Admission registries of each hospital in the study area were checked systematically for patients with a diagnosis of MS, neuromyelitis optica or other demyelinating disorders. All patients with collected information were evaluated by four senior neurologists according to the McDonald criteria. Results There were 249 (146 female and 103 male) patients with a confirmed MS diagnosis, at a female-to-male ratio of 1.4. The mean age at onset of MS was 37.4 years for the 249 patients with MS and, on the prevalence day, 42.7 years. The most frequent location of clinical MS lesions in the central nervous system was the spinal cord (61%), followed by the cerebrum (55%) and optic nerves (41%). Nearly all (96%) of the patients with MS had been examined by magnetic resonance imaging, and 226 (94%) patients of those examined were suggestive of MS. No family history of MS was found in any of the patients. Most (86%) of the patients had no or mild disability on the prevalence day (31 December 2004). Almost all (96%) patients with MS had been treated with corticosteroids. Conclusion Clinical features of patients with MS are described based on the information from the largest case series reported among Chinese. Comparisons and discussions are made with findings from the other populations.
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| 20. |
- Duggan, D., et al.
(författare)
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Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP
- 2007
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Ingår i: Journal of the National Cancer Institute. - : Oxford University Press (OUP). - 0027-8874 .- 1460-2105. ; 99:24, s. 1836-1844
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Tidskriftsartikel (refereegranskat)abstract
- Background: The consistent finding of a genetic susceptibility to prostate cancer suggests that there are germline sequence variants predisposing individuals to this disease. These variants could be useful in screening and treatment. Methods: We performed an exploratory genome-wide association scan in 498 men with aggressive prostate cancer and 494 control subjects selected from a population-based case-control study in Sweden. We combined the results of this scan with those for aggressive prostate cancer from the publicly available Cancer Genetic Markers of Susceptibility (CGEMS) Study. Single-nucleotide polymorphisms (SNPs) that showed statistically significant associations with the risk of aggressive prostate cancer based on two-sided allele tests were tested for their association with aggressive prostate cancer in two independent study populations composed of individuals of European or African American descent using one-sided tests and the genetic model (dominant or additive) associated with the lowest value in the exploratory study. Results: Among the approximately 60000 SNPs that were common to our study and CGEMS, we identified seven that had a similar (positive or negative) and statistically significant (P<.01) association with the risk of aggressive prostate cancer in both studies. Analysis of the distribution of these SNPs among 1032 prostate cancer patients and 571 control subjects of European descent indicated that one, rs1571801, located in the DAB2IP gene, which encodes a novel Ras GTPase-activating protein and putative prostate tumor suppressor, was associated with aggressive prostate cancer (one-sided P value =. 004). The association was also statistically significant in an African American study population that included 210 prostate cancer patients and 346 control subjects (one-sided P value =. 02). Conclusion: A genetic variant in DAB2IP may be associated with the risk of aggressive prostate cancer and should be evaluated further.
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| 25. |
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| 26. |
- Cheng, M.H., et al.
(författare)
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Growth and characterization of Ge nanostructures selectively grown on patterned Si
- 2008
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Ingår i: Thin Solid Films. - : Elsevier Science B.V., Amsterdam.. - 0040-6090 .- 1879-2731. ; 517:1, s. 57-61
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Tidskriftsartikel (refereegranskat)abstract
- By utilizing different distribution of strain fields around the edges of oxide, which are dominated by a series of sizes of oxide-patterned windows, long-range ordered self-assembly Ge nanostructures, such as nano-rings, nano-disks and nano-dots, were selectively grown by ultra high vacuum chemical vapor deposition (UHV-CVD) on Si (001) substrates. High-resolution double-crystal symmetrical omega/2 theta scans and two-dimensional reciprocal space mapping (2D-RSM) technologies employing the triple axis X-ray diffractometry have been used to evaluate the quality and strain status of as-deposited as well as in-situ annealed Ge nanostructures. Furthermore, we also compare the quality and strain status of Ge epilayers grown on planar unpatterned Si substrates. It was found that the quality of all Ge epitaxial structures is improved after in-situ annealing process and the quality of Ge nano-disk structures is better than that of Ge epilayers; on planar unpatterned Si substrates, because oxide sidewalls are effective dislocation sinks. We also noted that the degree of relaxation for as-deposited Ge epilayers on planar unpatterned Si substrates is less than that for as-deposited Ge nano-disk structures. After in-situ annealing process,all Ge epitaxial structures are almost at full relaxation whatever Ge epitaxial structures grew on patterned or unpatterned Si substrates.
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| 34. |
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| 35. |
- Downing, Laura J., 1954, et al.
(författare)
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Where’s the topic in Zulu?
- 2009
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Ingår i: The Linguistic Review. - : Walter de Gruyter GmbH. - 0167-6318 .- 1613-3676. ; 26:2/3, s. 207-238
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Tidskriftsartikel (refereegranskat)
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| 36. |
- Heldring, N, et al.
(författare)
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Estrogen receptors: how do they signal and what are their targets
- 2007
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Ingår i: Physiological reviews. - : American Physiological Society. - 0031-9333 .- 1522-1210. ; 87:3, s. 905-931
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Tidskriftsartikel (refereegranskat)abstract
- During the past decade there has been a substantial advance in our understanding of estrogen signaling both from a clinical as well as a preclinical perspective. Estrogen signaling is a balance between two opposing forces in the form of two distinct receptors (ERα and ERβ) and their splice variants. The prospect that these two pathways can be selectively stimulated or inhibited with subtype-selective drugs constitutes new and promising therapeutic opportunities in clinical areas as diverse as hormone replacement, autoimmune diseases, prostate and breast cancer, and depression. Molecular biological, biochemical, and structural studies have generated information which is invaluable for the development of more selective and effective ER ligands. We have also become aware that ERs do not function by themselves but require a number of coregulatory proteins whose cell-specific expression explains some of the distinct cellular actions of estrogen. Estrogen is an important morphogen, and many of its proliferative effects on the epithelial compartment of glands are mediated by growth factors secreted from the stromal compartment. Thus understanding the cross-talk between growth factor and estrogen signaling is essential for understanding both normal and malignant growth. In this review we focus on several of the interesting recent discoveries concerning estrogen receptors, on estrogen as a morphogen, and on the molecular mechanisms of anti-estrogen signaling.
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| 37. |
- Hsu, Li-Han, 1981, et al.
(författare)
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Fabrication process and 110 GHz measurement result of MS-to-CPW RF-via transition for RF-MEMS devices packaging applications
- 2009
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Ingår i: 2009 International Conference on Compound Semiconductor Manufacturing Technology, CS MANTECH 2009. - 9781893580138
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Konferensbidrag (refereegranskat)abstract
- This paper presents the fabrication process of RF-via (0-level) and flip-chip bump (1-level) transitions for applications of packaging MS (microstrip) RF-MEMS devices. The interconnect structure with MS-to-CPW transition between GaAs MEMS substrate and Al2O3 motherboard was in-house fabricated. A novel fabrication process for RF-MEMS packaging is in detail. After fabrication, the samples were measured up to 110 GHz using on-wafer probing measurement. From the measured results, the insertion loss of entire interconnect structure is better than -2 dB up to 100 GHz, documenting the feasibility for millimeter-wave RF-MEMS devices packaging applications.
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| 38. |
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| 39. |
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| 40. |
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| 41. |
- Nath, Swapan K., et al.
(författare)
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A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus
- 2008
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 40:2, s. 152-154
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Tidskriftsartikel (refereegranskat)abstract
- We identified and replicated an association between ITGAM (CD11b) at 16p11.2 and risk of systemic lupus erythematosus (SLE) in 3,818 individuals of European descent. The strongest association was at a nonsynonymous SNP, rs1143679 (P = 1.7 x 10(-17), odds ratio = 1.78). We further replicated this association in two independent samples of individuals of African descent (P = 0.0002 and 0.003; overall meta-analysis P = 6.9 x 10(-22)). The genetic association between ITGAM and SLE implicates the alpha(M)beta2-integrin adhesion pathway in disease development.
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| 42. |
- Ramstedt, Madeleine, et al.
(författare)
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Synthesis and characterization of poly(3-sulfopropylmethacrylate) brushes for potential antibacterial applications
- 2007
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Ingår i: Langmuir. - : American Chemical Society (ACS). - 0743-7463 .- 1520-5827. ; 23:6, s. 3314-21
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Tidskriftsartikel (refereegranskat)abstract
- This article describes the aqueous atom transfer radical polymerization synthesis of poly(3-sulfopropylmethacrylate) brushes onto gold and Si/SiO2 surfaces in a controlled manner. The effect of Cu(I)/Cu(II) ratio was examined, and a quartz crystal microbalance was used to study the kinetics of the brush synthesis. The synthesized brushes displayed a thickness from a few nanometers to several hundred nanometers and were characterized using atomic force microscopy, ellipsometry, Fourier transform infrared spectroscopy (FTIR), contact angle measurements, and X-ray photoelectron spectroscopy (XPS). The as-synthesized sulfonate brushes had very good ion-exchange properties for the ions tested in this study, i.e., Na+, K+, Cu2+, and Ag+. FTIR and XPS show that the metal ions are coordinating to sulfonate moieties inside the brushes. The brushes were easily loaded with silver ions, and the effect of silver ion concentration on silver loading of the brush was examined. The silver-loaded brushes were shown to be antibacterial toward both gram negative and gram positive bacteria. The silver leaching was studied through leaching experiments into water, NaNO3, and NaCl (physiological medium). The results from these leaching experiments are compared and discussed in the article.
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| 43. |
- Szatmari, Peter, et al.
(författare)
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- 2007
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:3, s. 319-328
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Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
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| 44. |
- Thunberg, Sarah, 1976-, et al.
(författare)
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Prolonged antigen-exposure with carbohydrate particle based vaccination prevents allergic immune responses in sensitized mice
- 2009
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Ingår i: Allergy. European Journal of Allergy and Clinical Immunology. - : Wiley. - 0105-4538 .- 1398-9995. ; 64:6, s. 919-926
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Defined particles carrying tightly bound allergens at high density have been suggested as alternatives in allergy vaccination. Carbohydrate based particles (CBP), sized 2 microm, provide a platform for covalent coupling of allergens. OBJECTIVE: To investigate the mechanisms of antigen presentation by CBP, as well as cellular and humoral responses after vaccination with the major cat allergen Fel d 1, covalently coupled to CBP. METHODS: Mice (n = 10/group) were subcutaneously vaccinated with CBP-rFel d 1, CBP or phosphate buffer saline (PBS) before sensitization with rFel d 1 and challenged with cat dander extract. Fluorescent and (75)Se-radiolabeled tracking of allergens and particles were performed with flow cytometry and whole-body autoradiography. Humoral, cellular and regulatory immune responses were analyzed by ELISA and flow cytometry. Cytokines were measured in bronchoalveolar lavage fluid and splenocyte cultures. RESULTS: CBP-rFel d 1 prevented induction of airway inflammation and induced allergen-specific T-cell anergy. CBP-rFel d 1 also induced rapid IgM and IgG1-responses compared with soluble rFel d 1. Particles were phagocytosed by antigen-presenting cells and transported to draining lymph nodes and spleen. Moreover, antigen coupled to CBP remained longer at the injection site compared with alum. CONCLUSIONS: Covalent coupling of rFel d 1 to CBP induces rapid antibody production, prevents induction of allergic immune responses and systemic allergen spreading. Thus, CBP comprise several attractive adjuvant features for use in allergy vaccination. CLINICAL IMPLICATIONS: Prolonged allergen exposure through covalent coupling to particles suitable for phagocytosis, provides an adjuvant for safer and efficient allergy vaccination.
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| 45. |
- Weinstein, S. L., et al.
(författare)
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Adolescent idiopathic scoliosis
- 2008
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Ingår i: Lancet. - 1474-547X. ; 371:9623, s. 1527-37
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Tidskriftsartikel (refereegranskat)abstract
- Adolescent idiopathic scoliosis (AIS) affects 1-3% of children in the at-risk population of those aged 10-16 years. The aetiopathogensis of this disorder remains unknown, with misinformation about its natural history. Non-surgical treatments are aimed to reduce the number of operations by preventing curve progression. Although bracing and physiotherapy are common treatments in much of the world, their effectiveness has never been rigorously assessed. Technological advances have much improved the ability of surgeons to safely correct the deformity while maintaining sagittal and coronal balance. However, we do not have long-term results of these changing surgical treatments. Much has yet to be learned about the general health, quality of life, and self-image of both treated and untreated patients with AIS.
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| 46. |
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| 47. |
- Zhou, Yuefang, et al.
(författare)
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An Altered Phenotype in a Conditional Knockout of Pitx2 in Extraocular Muscle
- 2009
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Ingår i: Investigative Ophthalmology & Visual Science. - : Association for Research in Vision and Ophthalmology (ARVO). - 1552-5783. ; 50:10, s. 4531-4541
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE. To determine the temporal and spatial expression of Pitx2, a bicoid-like homeobox transcription factor, during postnatal development of mouse extraocular muscle and to evaluate its role in the growth and phenotypic maintenance of postnatal extraocular muscle. METHODS. Mouse extraocular muscles of different ages were examined for the expression of Pitx2 by RT-PCR, q-PCR, and immunostaining. A conditional mutant mouse strain, in which Pitx2 function is inactivated at postnatal day (P)0, was generated with a Cre-loxP strategy. Histology, immunostaining, real-time PCR, in vitro muscle contractility, and in vivo ocular motility were used to study the effect of Pitx2 depletion on extraocular muscle. RESULTS. All three Pitx2 isoforms were expressed by extraocular muscle and at higher levels than in other striated muscles. Immunostaining demonstrated the presence of Pitx2 mainly in extraocular muscle myonuclei. However, no obvious expression patterns were observed in terms of anatomic region (orbital versus global layer), innervation zone, or muscle fiber types. The mutant extraocular muscle had no obvious pathology but had altered muscle fiber sizes. Expression levels of myosin isoforms Myh1, Myh6, Myh7, and Myh13 were reduced, whereas Myh2, Myh3, Myh4, and Myh8 were not affected by postnatal loss of Pitx2. In vitro, Pitx2 loss made the extraocular muscles stronger, faster, and more fatigable. Eye movement recordings found saccades to have a lower peak velocity. CONCLUSIONS. Pitx2 is important in maintaining the mature extraocular muscle phenotype and regulating the expression of critical contractile proteins. Modulation of Pitx2 expression can influence extraocular muscle function with long-term therapeutic implications. (Invest Ophthalmol Vis Sci. 2009; 50: 4531-4541) DOI:10.1167/iovs.08-2950
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