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- Castellani, Carlo, et al.
(författare)
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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
- 2008
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Ingår i: Journal of Cystic Fibrosis. - : Elsevier BV. - 1569-1993 .- 1873-5010. ; 7:3, s. 179-96
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Tidskriftsartikel (refereegranskat)abstract
- It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
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3. |
- Wahlund, J. E., et al.
(författare)
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Detection of dusty plasma near the E-ring of Saturn
- 2009
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Ingår i: Planetary and Space Science. - : Elsevier BV. - 0032-0633 .- 1873-5088. ; 57:14-15, s. 1795-1806
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Tidskriftsartikel (refereegranskat)abstract
- We present several independent in-situ measurements, which provide evidence that charged dust in the E-ring interacts collectively with the dense surrounding plasma disk of Saturn, i.e., form a system of dust-plasma interaction. The results are based on data sampled by the Radio and Plasma Wave Science (RPWS) investigation onboard Cassini, which allows for interferometry of plasma density inhomogeneities (delta n/n) with two antenna elements and a Langmuir probe sensor. The interferometer experiment detects two ion populations: one co-rotating with the planetary magnetic field and another moving with near Keplerian speed around Saturn. The full range of RPWS measurements indicates that the Keplerian population consists of colder ions (T-i
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- Cooke, S.J., et al.
(författare)
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Developing a mechanistic understanding of fish migrations by linking telemetry with physiology, behavior, genomics and experimental biology: an interdisciplinary case study on adult fraser river sockeys salmon
- 2008
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Ingår i: Fisheries. ; 33:7, s. 321-338
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Tidskriftsartikel (refereegranskat)abstract
- Fish migration represents one of the most complex and intriguing biological phenomena in the animal kingdom. How do fish migrate such vast distances? What are the costs and benefits of migration? Some of these fundamental questions have been addressed through the use of telemetry. However, telemetry alone has not and will not yield a complete understanding of the migration biology of fish or provide solutions to problems such as identifying physical barriers to migration or understanding potential impacts of climate change. Telemetry can be coupled with other tools and techniques to yield new insights into animal biology. Using Fraser River sockeye salmon (Oncorhynchus nerka) as a model, we summarize the advances that we have made in understanding salmonid migration biology through the integration of disciplines (i.e., interdisciplinary research) including physiology, behavior, functional genomics, and experimental biology. We also discuss opportunities for using large-scale telemetry arrays and taking a more experimental approach to studies of fish migration that use telemetry (i.e., intervention studies involving endocrine implants, simulated migration studies) rather than simply focusing on descriptive or correlational techniques. Only through integrative and interdisciplinary research will it be possible to understand the mechanistic basis of fish migrations and to predict and possibly mitigate the consequences of anthropogenic impacts. Telemetry is a tool that has the potential to integrate research across disciplines and between the lab and the field to advance the science of fish migration biology. The techniques that we have applied to the study of Pacific salmon are equally relevant to other fish taxa in both marine and freshwater systems as well as migratory animals beyond ichthyofauna. The interdisciplinary approach used here was essential to address a pressing and complex conservation problem association with sockeye salmon migration.
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5. |
- Farrell, W. M., et al.
(författare)
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Mass unloading along the inner edge of the Enceladus plasma torus
- 2008
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 35:2, s. L02203-
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Tidskriftsartikel (refereegranskat)abstract
- A major discovery made by the Cassini spacecraft at Saturn was the substantial mass ejection from the south pole of Enceladus. Previous studies show that this ejected gas can become ionized and subsequently load mass onto the connecting magnetic field lines near the moon. Radial diffusion then allows the mass-loaded field lines to move outward to similar to 15 R-s and inward to similar to 2 R-s, forming a plasma torus. We demonstrate herein that the mass is also '' unloaded '' along the inner edge of this plasma torus the edge incident with the plasma-absorbing A-ring. Interpreting down-drifting z-mode tones from active sites along the inner edge of the ion torus as emission near the local electron plasma frequency, f(pe), we can remotely-monitor this reduction in plasma density along the torus inner edge as a function time. We find that the down-drift of the z-mode tones corresponds typically to a plasma density change dn/dt similar to - 5x10(-4)/cm(3)-s and when integrated over an annulus defined by the outer edge of the A-ring, corresponds to a mass loss of similar to 40 kg/s. Using the z-mode tones, we also find locations where plasma mass from the ring-ionosphere is possibly loaded at 1 - 2 kg/s onto field lines near the Cassini gap.
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6. |
- Farrell, W. M., et al.
(författare)
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Electron density dropout near Enceladus in the context of water-vapor and water-ice
- 2009
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Ingår i: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 36:10, s. L10203-
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Tidskriftsartikel (refereegranskat)abstract
- On 12 March 2008, the Cassini spacecraft made a close encounter with the Saturnian moon Enceladus, passing within 52 km of the moon. The spacecraft trajectory was intentionally-oriented in a southerly direction to create a close alignment with the intense water-dominated plumes emitted from the south polar region. During the passage, the Cassini Radio and Plasma Wave System (RPWS) detected two distinct radio signatures: 1) Impulses associated with small water-ice dust grain impacts and 2) an upper hybrid (UH) resonance emission that both intensified and displayed a sharp frequency decrease in the near-vicinity of the moon. The frequency decrease of the UH emission is associated with an unexpectedly sharp decrease in electron density from similar to 90 cl/cm(3) to below 20 cl/cm(3) that occurs on a time scale of a minute near the closest encounter with the moon. In this work, we consider a number of scenarios to explain this sharp electron dropout, but surmise that electron absorption by ice grains is the most likely process.
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- Heck, J., et al.
(författare)
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Structure-property relationship in organometallic compounds regarding SHG
- 2007
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Ingår i: Linear and Nonlinear Optics of Organic Materials VII. - : SPIE - International Society for Optical Engineering. - 9780819468017 ; , s. R6530-R6530
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Konferensbidrag (refereegranskat)abstract
- Structure-property relationships based on experimental as well as theoretical results will be elucidated. For this purpose different dipolar organometallic compounds were synthesized and characterized. The alteration of the donor and acceptor termini in mono- and dinuclear sesquifulvalene complexes results in spectroscopic and even structural modifications. The structural and 1H NMR spectroscopic changes correlate with the experimentally obtained first hyperpolarizability. The potent electron-donating (D) group [(CpFeCO)2(μ-CO)(μ-C=CH-)] is combined with different electron-accepting units (A), yielding the push-pull complexes [(CpFeCO) 2(μ-CO)(μ-C=CH-CH=A)]. The extent of electron derealization within the π-bridge connecting the donor D and the acceptor A can be monitored by means of 1H NMR spectroscopy. A correlation between the 3J(Hβ-Hγ) coupling constants and the first hyperpolarizability is found, which very much resembles the dependence of the first hyperpolarizability on the bond length alternation. In order to elucidate the dependence of the NLO response on the conformation of triply branched NLOphores, a new series of dendritic D-π-A structures has been synthesized. A combined approach of experiments and computational predictions was applied both on the dendrimers and on the corresponding single-strand chromophores. These results demonstrate that theoretical calculations are able to reproduce experimental results and show the tendency of the effects due to structural changes.
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8. |
- Lynch, Iseult, et al.
(författare)
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Correlation of the adhesive properties of cells to N-isopropylacrylamide/N-tert-butylacrylamide copolymer surfaces with changes in surface structure using contact angle measurements, molecular simulations, and Raman spectroscopy
- 2005
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Ingår i: Chemistry of Materials. - : American Chemical Society (ACS). - 0897-4756 .- 1520-5002. ; 17:15, s. 3889-3898
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Tidskriftsartikel (refereegranskat)abstract
- A series of copolymers of N-isopropylacrylamide (NIPAM) and the more hydrophobic comonomer N-tert-butylacrylamide (NTBAM), with increasing NTBAM content (i.e., increasing hydrophobicity) were prepared. The adhesion of human epithelial cells on polymer films prepared from copolymers of NIPAM: NTBAM was observed to increase with increasing polymer hydrophobicity. However, in the absence of serum, cell adhesion to the different surfaces was statistically indistinguishable. Thus, it appears that the copolymer films differentially support cell adhesion due to selective adsorption of proteins from the physiological environment (the serum). Using contact angle measurements, molecular simulations, and Raman spectroscopy to characterize the different surfaces, we show evidence that the different behavior of cells on the films of increasing hydrophobicity is actually due to the different chemical properties of the surfaces with increasing content of NTBAM in the copolymers. As the NTBAM content is increased, the number of NH residues at the surface decreases, due to the additional steric hindrance of the bulkier NTBAM group, which results in decreased hydrogen bonding and thus decreased adsorption of proteins such as albumin. However, in some cases, the adsorption is driven by hydrophobic interactions, and proteins such as fibronectin were found to adsorb more to the films with a higher content of NTBAM. There appears, thus, to be a direct correlation between surface composition, i.e., the functional groups exposed at the surface, and protein binding and subsequent cell adhesion.
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