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Träfflista för sökning "WFRF:(May Arne) "

Sökning: WFRF:(May Arne)

  • Resultat 1-9 av 9
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1.
  • Bruce, Lesley J, et al. (författare)
  • Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man : an interaction between the Rh complex and the band 3 complex.
  • 2002
  • Ingår i: Blood. - 0006-4971 .- 1528-0020. ; 100:5, s. 1878-1885
  • Tidskriftsartikel (refereegranskat)abstract
    • We present data on a patient of South Asian origin with recessive hereditary spherocytosis (HS) due to absence of protein 4.2 [4.2 (-) HS]. Protein 4.2 cDNA sequence analysis showed the presence of a novel 41-bp frameshift deletion that predicts a truncated peptide designated protein 4.2 Hammersmith. Quantitative reverse transcription-polymerase chain reaction indicated that the mutant mRNA was unstable. Sequencing of protein 4.2 genomic DNA revealed that the deletion stems from aberrant splicing. The proband was homozygous for a G>T substitution at position 1747 (cDNA numbering) that activates a cryptic acceptor splice site within exon 11 of the protein 4.2 gene (EPB42). The proband's mother was found to be heterozygous for this substitution. Unlike protein 4.2 null mice, the proband's red cells showed no evidence for abnormal cation permeability. Quantitation of red cell membrane proteins was carried out by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), Western blotting, and flow cytometric measurement. CD47, a protein associated with the Rh complex, was markedly reduced to about 1% (in the proband) and 65% (in the mother) that found in healthy controls. The Rh-associated glycoprotein migrated with a higher than normal apparent molecular weight on SDS-PAGE. There was no obvious reduction in Rh polypeptides. These observations indicate that protein 4.2 and CD47 interact in the human red cell membrane. They provide further evidence for an association between the band 3 complex (band 3, ankyrin, protein 4.2, glycophorin A) and the Rh complex (Rh-associated glycoprotein, Rh polypeptides, glycophorin B, CD47, LW) and define a point of attachment between the Rh complex and the red cell cytoskeleton.
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2.
  • Chen, Ji, et al. (författare)
  • The trans-ancestral genomic architecture of glycemic traits
  • 2021
  • Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 53:6, s. 840-860
  • Tidskriftsartikel (refereegranskat)abstract
    • Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic health. To date, most genetic studies of glycemic traits have focused on individuals of European ancestry. Here we aggregated genome-wide association studies comprising up to 281,416 individuals without diabetes (30% non-European ancestry) for whom fasting glucose, 2-h glucose after an oral glucose challenge, glycated hemoglobin and fasting insulin data were available. Trans-ancestry and single-ancestry meta-analyses identified 242 loci (99 novel; P < 5 × 10-8), 80% of which had no significant evidence of between-ancestry heterogeneity. Analyses restricted to individuals of European ancestry with equivalent sample size would have led to 24 fewer new loci. Compared with single-ancestry analyses, equivalent-sized trans-ancestry fine-mapping reduced the number of estimated variants in 99% credible sets by a median of 37.5%. Genomic-feature, gene-expression and gene-set analyses revealed distinct biological signatures for each trait, highlighting different underlying biological pathways. Our results increase our understanding of diabetes pathophysiology by using trans-ancestry studies for improved power and resolution.
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4.
  • Draganski, Bogdan, et al. (författare)
  • Temporal and spatial dynamics of brain structure changes during extensive learning.
  • 2006
  • Ingår i: The Journal of neuroscience : the official journal of the Society for Neuroscience. - 1529-2401. ; 26:23, s. 6314-7
  • Tidskriftsartikel (refereegranskat)abstract
    • The current view regarding human long-term memory as an active process of encoding and retrieval includes a highly specific learning-induced functional plasticity in a network of multiple memory systems. Voxel-based morphometry was used to detect possible structural brain changes associated with learning. Magnetic resonance images were obtained at three different time points while medical students learned for their medical examination. During the learning period, the gray matter increased significantly in the posterior and lateral parietal cortex bilaterally. These structural changes did not change significantly toward the third scan during the semester break 3 months after the exam. The posterior hippocampus showed a different pattern over time: the initial increase in gray matter during the learning period was even more pronounced toward the third time point. These results indicate that the acquisition of a great amount of highly abstract information may be related to a particular pattern of structural gray matter changes in particular brain areas.
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5.
  • Joffrin, E., et al. (författare)
  • Overview of the JET preparation for deuterium-tritium operation with the ITER like-wall
  • 2019
  • Ingår i: Nuclear Fusion. - : IOP PUBLISHING LTD. - 0029-5515 .- 1741-4326. ; 59:11
  • Forskningsöversikt (refereegranskat)abstract
    • For the past several years, the JET scientific programme (Pamela et al 2007 Fusion Eng. Des. 82 590) has been engaged in a multi-campaign effort, including experiments in D, H and T, leading up to 2020 and the first experiments with 50%/50% D-T mixtures since 1997 and the first ever D-T plasmas with the ITER mix of plasma-facing component materials. For this purpose, a concerted physics and technology programme was launched with a view to prepare the D-T campaign (DTE2). This paper addresses the key elements developed by the JET programme directly contributing to the D-T preparation. This intense preparation includes the review of the physics basis for the D-T operational scenarios, including the fusion power predictions through first principle and integrated modelling, and the impact of isotopes in the operation and physics of D-T plasmas (thermal and particle transport, high confinement mode (H-mode) access, Be and W erosion, fuel recovery, etc). This effort also requires improving several aspects of plasma operation for DTE2, such as real time control schemes, heat load control, disruption avoidance and a mitigation system (including the installation of a new shattered pellet injector), novel ion cyclotron resonance heating schemes (such as the three-ions scheme), new diagnostics (neutron camera and spectrometer, active Alfven eigenmode antennas, neutral gauges, radiation hard imaging systems...) and the calibration of the JET neutron diagnostics at 14 MeV for accurate fusion power measurement. The active preparation of JET for the 2020 D-T campaign provides an incomparable source of information and a basis for the future D-T operation of ITER, and it is also foreseen that a large number of key physics issues will be addressed in support of burning plasmas.
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6.
  • Rodrigues, Joana M., et al. (författare)
  • p53 is associated with high-risk and pinpoints TP53 missense mutations in mantle cell lymphoma
  • 2020
  • Ingår i: British Journal of Haematology. - : Federation of European Neuroscience Societies and Blackwell Publishing Ltd. - 0007-1048 .- 1365-2141. ; 191:5, s. 796-805
  • Tidskriftsartikel (refereegranskat)abstract
    • Survival for patients diagnosed with mantle cell lymphoma (MCL) has improved drastically in recent years. However, patients carrying mutations in tumour protein p53 (TP53) do not benefit from modern chemotherapy-based treatments and have poor prognosis. Thus, there is a clinical need to identify missense mutations through routine analysis to enable patient stratification. Sequencing is not widely implemented in clinical practice for MCL, and immunohistochemistry (IHC) is a feasible alternative to identify high-risk patients. The aim of the present study was to investigate the accuracy of p53 as a tool to identify patients with TP53 missense mutations and the prognostic impact of overexpression and mutations in a Swedish population-based cohort. In total, 317 cases were investigated using IHC and 255 cases were sequenced, enabling analysis of p53 and TP53 status among 137 cases divided over the two-cohort investigated. The accuracy of predicting missense mutations from protein expression was 82%, with sensitivity at 82% and specificity at 100% in paired samples. We further show the impact of p53 expression and TP53 mutations on survival (hazard ratio of 3·1 in univariate analysis for both), and the association to risk factors, such as high MCL International Prognostic Index, blastoid morphology and proliferation, in a population-based setting.
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7.
  • Rodrigues, Joana M., et al. (författare)
  • p53 is associated with high-risk and pinpointsTP53missense mutations in mantle cell lymphoma
  • 2020
  • Ingår i: British Journal of Haematology. - : WILEY. - 0007-1048 .- 1365-2141. ; 191:5, s. 796-805
  • Tidskriftsartikel (refereegranskat)abstract
    • Survival for patients diagnosed with mantle cell lymphoma (MCL) has improved drastically in recent years. However, patients carrying mutations in tumour protein p53 (TP53) do not benefit from modern chemotherapy-based treatments and have poor prognosis. Thus, there is a clinical need to identify missense mutations through routine analysis to enable patient stratification. Sequencing is not widely implemented in clinical practice for MCL, and immunohistochemistry (IHC) is a feasible alternative to identify high-risk patients. The aim of the present study was to investigate the accuracy of p53 as a tool to identify patients withTP53missense mutations and the prognostic impact of overexpression and mutations in a Swedish population-based cohort. In total, 317 cases were investigated using IHC and 255 cases were sequenced, enabling analysis of p53 andTP53status among 137 cases divided over the two-cohort investigated. The accuracy of predicting missense mutations from protein expression was 82%, with sensitivity at 82% and specificity at 100% in paired samples. We further show the impact of p53 expression andTP53mutations on survival (hazard ratio of 3 center dot 1 in univariate analysis for both), and the association to risk factors, such as high MCL International Prognostic Index, blastoid morphology and proliferation, in a population-based setting.
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9.
  • Öhman, May-Britt, 1966- (författare)
  • Taming exotic beauties : Swedish hydropower constructions in Tanzania in the era of development assistance, 1960s-1990s
  • 2007
  • Doktorsavhandling (övrigt vetenskapligt)abstract
    • This study analyses the history of a large hydroelectric scheme – the Great Ruaha power project in Tanzania. The objective is to establish why and how this specific scheme came about, and as part of this to identify the key actors involved in the decision-making process, including the ideological contexts within which they acted. Although the Tanzanian actors and the World Bank (IBRD) are discussed, main focus is on the Swedish actors on project level.Kidatu, the first phase of the Great Ruaha power project (constructed between1970-1975), became the first large-scale hydropower station in Tanzania. As such, it paved the way for Tanzanian entrance into the Big Dam Era and significant changes within the Tanzanian landscape. As well as the dry river bed at Kidatu, and the small reservoir that precedes it, the Great Ruaha power project also involved the creation of a huge artificial lake, the Mtera reservoir. The Kidatu hydropower station was the first large undertaking within Swedish bilateral aid, and implied the takeover of control of hydropower construction in Tanzania by Swedish enterprises, replacing the enterprises of the former colonial power. A hydropower plant is a complex technoscientific artefact. The construction of a hydropower plant is preceded by a large number of technological choices, scientific prestudies and estimations of costs and revenues. A hydropower plant is also a complex social creation, and is as such filled with social actors engaged in conflicts, compromises and power structures. The decision to construct Kidatu hydropower station was a result of negotiations and activities within what is called “development assistance”. This brings in yet another dimension, the political one, involving export and import of technology, foreign capital, and foreign influence in decision-making processes, as well as ideas about how to bring development and progress to a people supposed to be living in “poverty and misery”. The study is divided into three main parts. The first part analyses the context of Swedish development assistance in the support to the construction of hydropower plants. This part discusses Swedish state-supported hydropower exploitation of indigenous people’s territory within Sweden’s borders in the 20th century and the background of Swedish development assistance, from the 1950s to the early 1960s. The second part analyses the event of Swedish development assistance entering Tanzania and the Great Ruaha power project, with the main focus being on the period 1965 – 1970. The third part is an analysis of the technoscientific basis for the decisions taken to implement the Great Ruaha hydropower scheme. Main focus is on the period 1969-1974, discussed against the backdrop of precolonial and colonial studies. While focus is on the 1960s and 1970s, in both part two and three events in the 1980s and 1990s are discussed. The study shows that although Sweden was not a colonial power in Tanzania, colonial imagery, and relations to the colonial era, as well as Sweden’s background of internal colonialisation, exerted an influence on the decision-making process and the actors involved in the Great Ruaha power project.The study is mainly based on archival sources, complemented with oral sources from Tanzania and Sweden. Recognizing the complexity of large-scale hydropower and the attempts to control watercourses that large scale hydropower necessitates, in the specific context of decolonisation and development assistance that the decision-making process behind the Great Ruaha hydropower scheme reveals, the analysis of the actors involved is based on feminist and postcolonial perspectives.
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  • Resultat 1-9 av 9

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