| 1. |
- Imanishi, T., et al.
(författare)
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Integrative annotation of 21,037 human genes validated by full-length cDNA clones
- 2004
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Ingår i: PLoS biology. - : Public Library of Science (PLoS). - 1544-9173 .- 1545-7885. ; 2:6, s. 856-875
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Tidskriftsartikel (refereegranskat)abstract
- The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology.
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| 2. |
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| 3. |
- Hudson, Thomas J., et al.
(författare)
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International network of cancer genome projects
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7291, s. 993-998
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Tidskriftsartikel (refereegranskat)abstract
- The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.
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| 4. |
- Verstraeten, A., et al.
(författare)
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Effects of tree pollen on throughfall element fluxes in European forests
- 2023
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Ingår i: Biogeochemistry. - Göteborg : Springer. - 0168-2563 .- 1573-515X. ; 165:3, s. 311-325
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Tidskriftsartikel (refereegranskat)abstract
- The effects of tree pollen on precipitation chemistry are not fully understood and this can lead to misinterpretations of element deposition in European forests. We investigated the relationship between forest throughfall (TF) element fluxes and the Seasonal Pollen Integral (SPIn) using linear mixed-effects modelling (LME). TF was measured in 1990-2018 during the main pollen season (MPS, arbitrary two months) in 61 managed, mostly pure, even-aged Fagus, Quercus, Pinus, and Picea stands which are part of the ICP Forests Level II network. The SPIn for the dominant tree genus was observed at 56 aerobiological monitoring stations in nearby cities. The net contribution of pollen was estimated as the TF flux in the MPS minus the fluxes in the preceding and succeeding months. In stands of Fagus and Picea, two genera that do not form large amounts of flowers every year, TF fluxes of potassium (K+), ammonium-nitrogen (NH4+-N), dissolved organic carbon (DOC), and dissolved organic nitrogen (DON) showed a positive relationship with SPIn. However- for Fagus- a negative relationship was found between TF nitrate-nitrogen (NO3--N) fluxes and SPIn. For Quercus and Pinus, two genera producing many flowers each year, SPIn displayed limited variability and no clear association with TF element fluxes. Overall, pollen contributed on average 4.1-10.6% of the annual TF fluxes of K+ > DOC > DON > NH4+--N with the highest contribution in Quercus > Fagus > Pinus > Picea stands. Tree pollen appears to affect TF inorganic nitrogen fluxes both qualitatively and quantitatively, acting as a source of NH4+--N and a sink of NO3--N. Pollen appears to play a more complex role in nutrient cycling than previously thought.
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| 5. |
- Grewling, L., et al.
(författare)
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Variation in Artemisia pollen seasons in Central and Eastern Europe
- 2012
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Ingår i: Agricultural and Forest Meteorology. - : Elsevier BV. - 1873-2240 .- 0168-1923. ; 160, s. 48-59
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Tidskriftsartikel (refereegranskat)abstract
- This paper aims to address some gaps in current knowledge by studying temporal and spatial variations in Artemisia pollen counts (2000-2009) at 13 sites located in different biogeographical areas of Central and Eastern Europe. Analysis showed that start dates of Artemisia pollen seasons are greatly dependent on temperature during June and July, with hot summer temperatures having a tendency to delay summer flowering. However, this relationship is not linear and the rate at which seasons become later increases when mean minimum June-July temperatures reach a threshold of about 13 degrees C. No explanation for variations in pollen season intensity could be found. The geographical location or amount of urbanisation did not influence, either positively or negatively, the seasonal pollen index. Second peaks in Artemisia pollen seasons can be described as the pollen seasons of late flowering Artemisia species, and mainly occurred in the geographical area south of the Carpathian Mountains. These second peaks can significantly influence the seasonal pollen index, contributing over 50% to the season's total Artemisia pollen recorded at one site. (C) 2012 Elsevier B.V. All rights reserved.
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| 7. |
- Kwiatkowski, A., et al.
(författare)
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Chlamydia pneumoniae infection: an additional factor for chronic allograft rejection.
- 2006
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Ingår i: Transplantation Proceedings. - : Elsevier BV. - 0041-1345. ; 38:1, s. 108-111
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Tidskriftsartikel (refereegranskat)abstract
- Introduction Chronic rejection (CHR) of organ allografts, one of the most significant problems in modern transplantation, is not fully understood. This study sought to evaluate the influence of selected parameters on late kidney transplant function. Patients and Method The studied group consisted of eighty-six patients who received allogeneic transplants between 1988 and 1999 for leukocyte Chlamydia pneumoniae–DNA, immunoglobulin (Ig)A/IgG anti–C pneumoniae, blood lipids, ischemic damage in the donor and during organ preservation, HLA mismatch, and acute rejection episodes. Results Eighty-six patients were segregated as 26 patients (30%) with histologically proven chronic graft rejection (CHR[+]) and 59 patients (70%) without (CHR[−]). The presence of C pneumoniae–DNA in peripheral blood leukocytes was significantly more frequent in CHR(+) than CHR(−) group (46% vs 20%). Patients with leukocytes positive for C pneumoniae–DNA more frequently (50%) had CHR than patients negative for C pneumoniae–DNA (22%). CHR(+) patients showed significantly lower HDL levels (47 mg/dL vs 58 mg/dL) and higher triglyceride levels (193 mg/dL vs 148 mg/dL). To study the cumulative effect of differences between the CHR(+) and CHR(−) groups, we applied a multiple binary logistic regression analysis. An econometric model enabled us to calculate the probability of CHR for a given patient taking into account covariates chosen by means of stepwise selection: the presence of C pneumoniae–DNA in blood leukocytes, the use of continuous pulsatile perfusion in hypothermia, myocardial infarction occurrence, and triglyceride concentrations. Conclusion The presence of C pneumoniae–DNA in peripheral blood leukocytes increased the risk of CHR, which may be predicted by a multifactor analysis of chosen parameters.
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| 8. |
- Dulio, Valeria, et al.
(författare)
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The NORMAN Association and the European Partnership for Chemicals Risk Assessment (PARC) : let’s cooperate!
- 2020
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Ingår i: Environmental Sciences Europe. - : Springer. - 2190-4707 .- 2190-4715. ; 32:1
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Tidskriftsartikel (refereegranskat)abstract
- The Partnership for Chemicals Risk Assessment (PARC) is currently under development as a joint research and innovation programme to strengthen the scientific basis for chemical risk assessment in the EU. The plan is to bring chemical risk assessors and managers together with scientists to accelerate method development and the production of necessary data and knowledge, and to facilitate the transition to next-generation evidence-based risk assessment, a non-toxic environment and the European Green Deal. The NORMAN Network is an independent, well-established and competent network of more than 80 organisations in the field of emerging substances and has enormous potential to contribute to the implementation of the PARC partnership. NORMAN stands ready to provide expert advice to PARC, drawing on its long experience in the development, harmonisation and testing of advanced tools in relation to chemicals of emerging concern and in support of a European Early Warning System to unravel the risks of contaminants of emerging concern (CECs) and close the gap between research and innovation and regulatory processes. In this commentary we highlight the tools developed by NORMAN that we consider most relevant to supporting the PARC initiative: (i) joint data space and cutting-edge research tools for risk assessment of contaminants of emerging concern; (ii) collaborative European framework to improve data quality and comparability; (iii) advanced data analysis tools for a European early warning system and (iv) support to national and European chemical risk assessment thanks to harnessing, combining and sharing evidence and expertise on CECs. By combining the extensive knowledge and experience of the NORMAN network with the financial and policy-related strengths of the PARC initiative, a large step towards the goal of a non-toxic environment can be taken.
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