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- Bushby, Katharine, et al.
(författare)
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Ataluren treatment of patients with nonsense mutation dystrophinopathy.
- 2014
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Ingår i: Muscle & nerve. - : Wiley. - 1097-4598 .- 0148-639X. ; 50:4, s. 477-87
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Tidskriftsartikel (refereegranskat)abstract
- Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.
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- Topuz, G., et al.
(författare)
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Carboniferous high-potassium I-type granitoid magmatism in the Eastern Pontides: The Gumushane pluton (NE Turkey)
- 2010
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Ingår i: Lithos. - 0024-4937. ; 116:1-2, s. 92-110
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Tidskriftsartikel (refereegranskat)abstract
- The Gumushane pluton, a high-K calc-alkaline I-type granodionte/granite complex, forms an important component of the pre-Liassic basement of the Eastern Pontides (NE Turkey) In its eastern part, the pluton shows a compositional zonation ranging from biotite-hornblende granodiorite in the NW through biotite-hornblende granite to leucogranite/granophyre in the SE Numerous mafic microgranular enclaves (up to similar to 40 cm in diameter) suggest the former presence of globules of mafic melt during crystallization Emplacement of the pluton occurred during the latest Early Carboniferous, as shown by the 320 +/- 4 Ma (40)Ar-(39)Ar bionte/homblende and 324 +/- 6 Ma LA-ICP-MS U-Pb zircon ages. In Harker diagrams, samples of the different rock types exhibit well-defined data trends. With increasing SiO(2), the abundances of TiO(2), Al(2)O(3), Fe(2)O(3)(tot), MnO, MgO, CaO, P(2)O(5) and Sc decrease, but those of K(2)O and Rb increase However, the variations of Sr, Ba, (La/Yb)(cn) Sr/Y and Sigma REEs vs SiO(2) form distinctive groupings, which cannot be explained by a simple fractional crystallization Chondrite-normalized (cn) REE patterns of granodionte/granite samples show concave-upward shapes with (La/Yb)(cn) ranging from 5.2 to 124 and Eu/Eu* from 084 to 0.47, while there is almost no fractionation of the middle REE relative to the heavy REE In primitive mantle-normalized element concentration diagrams, all rocks display marked negative anomalies in Ba, Nb/Ta, Sr, P and Ti. but positive anomalies in K and Pb. These geochemical features imply a fractionating mineral assemblage of clinopyroxene, amphibole and plagioclase without significant involvement of garnet. The granophyres are, on the other hand, characterized by higher K(2)O/Na(2)O and Rb/Sr ratios, lower (La/Yb)(cn), ratios (1 3 to 4 8) and more pronounced negative anomalies in Ba, Nb/Ta, Sr, Eu, P and Ti Initial epsilon(Nd) values range from -3 78 to -5.30 and Nd model ages from 1 38 to 163 Ga The magmas of the granite/granodiorite portion were probably generated by partial melting of high-potassic amphibolitic rocks, and those of the granophyres by a relatively felsic micaceous crustal source. The Gumushane pluton was emplaced at the wake of the lowpressure-high-temperature metamorphism, and is regarded as a late phase of Hercynian orogeny in the Eastern Pontides (C) 2010 Elsevier B.V All rights reserved
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- Boecker, W., et al.
(författare)
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Differentiation and histogenesis of syringomatous tumour of the nipple and low-grade adenosquamous carcinoma: evidence for a common origin
- 2014
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Ingår i: Histopathology. - : Wiley. - 0309-0167 .- 1365-2559. ; 65:1, s. 9-23
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Tidskriftsartikel (refereegranskat)abstract
- Aims: Syringomatous tumour of the nipple and low-grade adenosquamous carcinoma (LGAdSC) of the breast are regarded as distinct entities. To clarify the nature of these two lesions, we compared the expression of different lineage/differentiation markers in 12 syringomatous tumours of the nipple, nine LGAdSCs, and normal breast epithelium. Methods and results: Using triple immunofluorescence labelling and quantitative RT-PCR for keratins, p63, and smooth muscle actin, we demonstrated that syringomatous tumour and LGAdSC contain p63+/K5/14+ tumour cells, K10+ squamous cells, and K8/18+ glandular cells, with intermediary cells being found in both lineages. Identical p63+/K5/14+ cells were also found in the normal breast duct epithelium. Conclusions: Our data provide evidence that syringomatous tumour of the nipple and LGAdSC are identical or nearly identical lesions. They contain p63+/K5/14+ cells as the key cells from which the K10+ squamous lineage and the K8/18+ glandular lineage arise. On the basis of our findings in normal breast tissue and associated benign lesions, we suggest that p63+/K5/14+ cells of the normal breast duct epithelium or early related cells might play a key role in the neoplastic transformation of both syringomatous tumour and LGAdSC. We propose that the differentiation patterns found in both lesions reflect the early ontogenetic stages of the normal breast epithelium.
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- Buker, P., et al.
(författare)
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DO3SE modelling of soil moisture to determine ozone flux to forest trees
- 2012
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Ingår i: Atmospheric Chemistry and Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 12:12, s. 5537-5562
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Tidskriftsartikel (refereegranskat)abstract
- The DO3SE (Deposition of O-3 for Stomatal Exchange) model is an established tool for estimating ozone (O-3) deposition, stomatal flux and impacts to a variety of vegetation types across Europe. It has been embedded within the EMEP (European Monitoring and Evaluation Programme) photochemical model to provide a policy tool capable of relating the flux-based risk of vegetation damage to O-3 precursor emission scenarios for use in policy formulation. A key limitation of regional flux-based risk assessments has been the assumption that soil water deficits are not limiting O-3 flux due to the unavailability of evaluated methods for modelling soil water deficits and their influence on stomatal conductance (g(sto)), and subsequent O-3 flux. This paper describes the development and evaluation of a method to estimate soil moisture status and its influence on g(sto) for a variety of forest tree species. This DO3SE soil moisture module uses the Penman-Monteith energy balance method to drive water cycling through the soil-plant-atmosphere system and empirical data describing g(sto) relationships with pre-dawn leaf water status to estimate the biological control of transpiration. We trial four different methods to estimate this biological control of the transpiration stream, which vary from simple methods that relate soil water content or potential directly to g(sto), to more complex methods that incorporate hydraulic resistance and plant capacitance that control water flow through the plant system. These methods are evaluated against field data describing a variety of soil water variables, g(sto) and transpiration data for Norway spruce (Picea abies), Scots pine (Pinus sylvestris), birch (Betula pendula), aspen (Populus tremuloides), beech (Fagus sylvatica) and holm oak (Quercus ilex) collected from ten sites across Europe and North America. Modelled estimates of these variables show consistency with observed data when applying the simple empirical methods, with the timing and magnitude of soil drying events being captured well across all sites and reductions in transpiration with the onset of drought being predicted with reasonable accuracy. The more complex methods, which incorporate hydraulic resistance and plant capacitance, perform less well, with predicted drying cycles consistently underestimating the rate and magnitude of water loss from the soil. A sensitivity analysis showed that model performance was strongly dependent upon the local parameterisation of key model drivers such as the maximum g(sto), soil texture, root depth and leaf area index. The results suggest that the simple modelling methods that relate g(sto) directly to soil water content and potential provide adequate estimates of soil moisture and influence on g(sto) such that they are suitable to be used to assess the potential risk posed by O-3 to forest trees across Europe.
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- Nienaber, Juhsien J.C., et al.
(författare)
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Methicillin-susceptible staphylococcus aureus endocarditis isolates Are associated with clonal complex 30 genotype and a distinct repertoire of enterotoxins and adhesins
- 2011
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Ingår i: Journal of Infectious Diseases. - : Oxford University Press (OUP). - 0022-1899 .- 1537-6613. ; 204, s. 704-713
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Tidskriftsartikel (refereegranskat)abstract
- Background. Using multinational collections of methicillin-susceptible Staphylococcus aureus (MSSA) isolates from infective endocarditis (IE) and soft tissue infections (STIs), we sought to (1) validate the finding that S. aureus in clonal complex (CC) 30 is associated with hematogenous complications and (2) test the hypothesis that specific genetic characteristics in S. aureus are associated with infection severity. Methods. IE and STI isolates from 2 cohorts were frequency matched by geographic origin. Isolates underwent spa typing to infer CC and multiplex polymerase chain reaction for presence of virulence genes. Results. 114 isolate pairs were genotyped. IE isolates were more likely to be CC30 (19.5% vs 6.2%; P = .005) and to contain 3 adhesins (clfB, cna, map/eap; P <.0001 for all) and 5 enterotoxins (tst, sea, sed, see, and sei; P ≤.005 for all). CC30 isolates were more likely to contain cna, tst, sea, see, seg, and chp (P < .05 for all). Conclusions. MSSA IE isolates were significantly more likely to be CC30 and to possess a distinct repertoire of virulence genes than MSSA STI isolates from the same region. The genetic basis of this association requires further study. © The Author 2011.
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| 10. |
- Zack, Thomas, 1968, et al.
(författare)
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In situ U-Pb rutile dating by LA-ICP-MS: Pb-208 correction and prospects for geological applications
- 2011
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Ingår i: Contributions to Mineralogy and Petrology. - 0010-7999. ; 162:3, s. 515-530
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Tidskriftsartikel (refereegranskat)abstract
- Rutile is a common accessory mineral that occurs in a wide spectrum of metamorphic rocks, such as in blueschists, eclogites, and granulites and as one of the most stable detrital heavy minerals in sedimentary rocks. The advent of rutile trace element thermometry has generated increased interest in a better understanding of rutile formation. This study documents important analytical advances in in situ LA-ICP-MS U/Pb geochronology of rutile: (1) Matrix matching, necessary for robust in situ dating is fulfilled by calibrating and testing several rutile standards (R10, R19, WH-1), including the presentation of new TIMS ages for the rutile standard R19 (489.5 +/- A 0.9 Ma; errors always stated as 2 s). (2) Initial common lead correction is routinely applied via Pb-208, which is possible due to extremely low Th/U ratios (usually < 0.003) in most rutiles. Employing a 213 nm Nd:YAG laser coupled to a quadrupole ICP-MS and using R10 as a primary standard, rutile U/Pb concordia ages for the two other rutile standards (493 +/- A 10 Ma for R19; 2640 +/- A 50 Ma for WH-1) and four rutile-bearing metamorphic rocks (181 +/- A 4 Ma for Ivrea metapelitic granulite; 339 +/- A 7 Ma for Saidenbach coesite eclogite; 386 +/- A 8 Ma for Fjortoft UHP metapelite; 606 +/- A 12 Ma for Andrelandia metepelitic granulite) always agree within 2% with the reported TIMS ages and other dating studies from the same localities. The power of in situ U/Pb rutile dating is illustrated by comparing ages of detrital rutile and zircon from a recent sediment from the Christie Domain of the Gawler Craton, Australia. While the U/Pb age spectrum from zircons show several pronounced peaks that are correlated with magmatic episodes, rutile U/Pb ages are marked by only one pronounced peak (at ca 1,675 Ma) interpreted to represent cooling ages of this part of the craton. Rutile thermometry of the same detrital grains indicates former granulite-facies conditions. The methods outlined in this paper should find wide application in studies that require age information of single spots, e.g., provenance studies, single-crystal zoning and texturally controlled dating.
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