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Sökning: WFRF:(Gardiner Robert)

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11.
  • Chioza, Barry A., et al. (författare)
  • Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14
  • 2009
  • Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 87:2-3, s. 247-255
  • Tidskriftsartikel (refereegranskat)abstract
    • Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is well recognised but the mechanism of inheritance and the genes involved are yet to be fully established. A genome wide single nucleotide polymorphism (SNP)-based high density linkage scan was carried out using 41 nuclear pedigrees with at least two affected members. Multipoint parametric and non-parametric linkage analyses were performed using MERLIN 1.1.1 and a susceptibility locus was identified on chromosome 3p23-p14 (Z(mean)=3.9, p<0.0001; HLOD=3.3, alpha=0.7). The linked region harbours the functional candidate genes TRAK1 and CACNA2D2. Fine-mapping using a tagSNP approach demonstrated disease association with variants in TRAK1.
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12.
  • Engert, Andreas, et al. (författare)
  • The European Hematology Association Roadmap for European Hematology Research : a consensus document
  • 2016
  • Ingår i: Haematologica. - Pavia, Italy : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 101:2, s. 115-208
  • Tidskriftsartikel (refereegranskat)abstract
    • The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at (sic)23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
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13.
  • Everett, Kate, et al. (författare)
  • Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
  • 2007
  • Ingår i: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 75:2-3, s. 145-153
  • Tidskriftsartikel (refereegranskat)abstract
    • In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.
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14.
  • Gardiner, Chris, et al. (författare)
  • Extracellular vesicles, tissue factor, cancer and thrombosis - discussion themes of the ISEV 2014 Educational Day.
  • 2015
  • Ingår i: Journal of Extracellular Vesicles. - : Wiley. - 2001-3078. ; 4:1
  • Forskningsöversikt (refereegranskat)abstract
    • Although the association between cancer and venous thromboembolism (VTE) has long been known, the mechanisms are poorly understood. Circulating tissue factor-bearing extracellular vesicles have been proposed as a possible explanation for the increased risk of VTE observed in some types of cancer. The International Society for Extracellular Vesicles (ISEV) and International Society on Thrombosis and Haemostasis (ISTH) held a joint Educational Day in April 2014 to discuss the latest developments in this field. This review discusses the themes of that event and the ISEV 2014 meeting that followed.
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15.
  • Gardiner, Jean, et al. (författare)
  • Redundancy as a critical life event : Moving on from the Welsh steel industry through career change
  • 2009
  • Ingår i: Work, Employment and Society. - : Sage Publications. - 0950-0170 .- 1469-8722. ; 23:4, s. 727-745
  • Tidskriftsartikel (refereegranskat)abstract
    • This article investigates the process of moving on from redundancy in the Welsh steel industry among individuals seeking new careers. It identifies a spectrum of career change experience, ranging from those who had actively planned their career change, prior to the redundancies, to those ’at a career crossroads’, for whom there were tensions between future projects, present contingencies and past identities. It suggests that the process of moving on from redundancy can be better understood if we are able to identify, not just structural and cultural enablers and constraints but also the temporal dimensions of agency that facilitate or limit transformative action in the context of critical life events. Where individuals are located on the spectrum of career change experience will depend on the balance of enabling and constraining factors across the four aspects considered, namely temporal dimensions of agency, individuals’ biographical experience, structural and cultural contexts.
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18.
  • Lees, John, et al. (författare)
  • Locomotor preferences in terrestrial vertebrates : An online crowdsourcing approach to data collection.
  • 2016
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 6
  • Tidskriftsartikel (refereegranskat)abstract
    • Understanding how animals move within their environment is a burgeoning field of research. Despite this, relatively basic data, such as the locomotor speeds that animals choose to walk at in the wild, are sparse. If animals choose to walk with dynamic similarity, they will move at equal dimensionless speeds, represented by Froude number (Fr). Fr may be interpreted from simple limb kinematics obtained from video data. Here, using Internet videos, limb kinematics were measured in 112 bird and mammal species weighing between 0.61 and 5400 kg. This novel method of data collection enabled the determination of kinematics for animals walking at their self-selected speeds without the need for exhaustive fieldwork. At larger sizes, both birds and mammals prefer to walk at slower relative speeds and relative stride frequencies, as preferred Fr decreased in larger species, indicating that Fr may not be a good predictor of preferred locomotor speeds. This may result from the observation that the minimum cost of transport is approached at lower Fr in larger species. Birds walk with higher duty factors, lower stride frequencies and longer stance times compared to mammals at self-selected speeds. The trend towards lower preferred Fr is also apparent in extinct vertebrate species.
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19.
  • Moshontz, Hannah, et al. (författare)
  • The Psychological Science Accelerator: Advancing Psychology Through a Distributed Collaborative Network
  • 2018
  • Ingår i: Advances in Methods and Practices in Psychological Science. - : SAGE Publications. - 2515-2459 .- 2515-2467. ; 1:4, s. 501-515
  • Tidskriftsartikel (refereegranskat)abstract
    • Concerns about the veracity of psychological research have been growing. Many findings in psychological science are based on studies with insufficient statistical power and nonrepresentative samples, or may otherwise be limited to specific, ungeneralizable settings or populations. Crowdsourced research, a type of large-scale collaboration in which one or more research projects are conducted across multiple lab sites, offers a pragmatic solution to these and other current methodological challenges. The Psychological Science Accelerator (PSA) is a distributed network of laboratories designed to enable and support crowdsourced research projects. These projects can focus on novel research questions or replicate prior research in large, diverse samples. The PSA’s mission is to accelerate the accumulation of reliable and generalizable evidence in psychological science. Here, we describe the background, structure, principles, procedures, benefits, and challenges of the PSA. In contrast to other crowdsourced research networks, the PSA is ongoing (as opposed to time limited), efficient (in that structures and principles are reused for different projects), decentralized, diverse (in both subjects and researchers), and inclusive (of proposals, contributions, and other relevant input from anyone inside or outside the network). The PSA and other approaches to crowdsourced psychological science will advance understanding of mental processes and behaviors by enabling rigorous research and systematic examination of its generalizability.
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