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- Ameur, Adam, et al.
(author)
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SweGen : a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- 2017
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In: European Journal of Human Genetics. - : NATURE PUBLISHING GROUP. - 1018-4813 .- 1476-5438. ; 25:11, s. 1253-1260
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Journal article (peer-reviewed)abstract
- Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry. A total of 1000 individuals, reflecting a cross-section of the population and capturing the main genetic structure, were selected for whole-genome sequencing. Analysis pipelines were developed for automated alignment, variant calling and quality control of the sequencing data. This resulted in a genome-wide collection of aggregated variant frequencies in the Swedish population that we have made available to the scientific community through the website https://swefreq.nbis.se. A total of 29.2 million single-nucleotide variants and 3.8 million indels were detected in the 1000 samples, with 9.9 million of these variants not present in current databases. Each sample contributed with an average of 7199 individual-specific variants. In addition, an average of 8645 larger structural variants (SVs) were detected per individual, and we demonstrate that the population frequencies of these SVs can be used for efficient filtering analyses. Finally, our results show that the genetic diversity within Sweden is substantial compared with the diversity among continental European populations, underscoring the relevance of establishing a local reference data set.
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- Fristedt, Rikard, et al.
(author)
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Photosystem II protein 33, a protein conserved in the plastid lineage, is associated with the chloroplast thylakoid membrane and provides stability to photosystem II supercomplexes in Arabidopsis
- 2015
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In: Plant Physiology. - : Oxford University Press (OUP). - 0032-0889 .- 1532-2548. ; 167:2, s. 481-492
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Journal article (peer-reviewed)abstract
- Photosystem II (PSII) is a multiprotein complex that catalyzes the light-driven water-splitting reactions of oxygenic photosynthesis. Light absorption by PSII leads to the production of excited states and reactive oxygen species that can cause damage to this complex. Here, we describe Arabidopsis (Arabidopsis thaliana) At1g71500, which encodes a previously uncharacterized protein that is a PSII auxiliary core protein and hence is named PHOTOSYSTEM II PROTEIN33 (PSB33). We present evidence that PSB33 functions in the maintenance of PSII-light-harvesting complex II (LHCII) supercomplex organization. PSB33 encodes a protein with a chloroplast transit peptide and one transmembrane segment. In silico analysis of PSB33 revealed a light-harvesting complex-binding motif within the transmembrane segment and a large surface-exposed head domain. Biochemical analysis of PSII complexes further indicates that PSB33 is an integral membrane protein located in the vicinity of LHCII and the PSII CP43 reaction center protein. Phenotypic characterization of mutants lacking PSB33 revealed reduced amounts of PSII-LHCII supercomplexes, very low state transition, and a lower capacity for nonphotochemical quenching, leading to increased photosensitivity in the mutant plants under light stress. Taken together, these results suggest a role for PSB33 in regulating and optimizing photosynthesis in response to changing light levels.
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3. |
- Cavefors, Oscar, et al.
(author)
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Isolated diastolic dysfunction is associated with increased mortality in critically ill patients.
- 2023
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In: Journal of critical care. - : Elsevier BV. - 1557-8615 .- 0883-9441. ; 76
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Journal article (peer-reviewed)abstract
- Left ventricular (LV) diastolic dysfunction is important in critically ill patients, but prevalence and impact on mortality is not well studied. We classified intensive care patients with normal left ventricular function according to current diastolic guidelines and explored associations with mortality.Echocardiography was performed within 24h of intensive care admission. Patients with reduced LV ejection fraction, regional wall motion abnormality, or a history of cardiac disease were excluded. Patients were classified according to the 2016 EACVI guidelines, Recommendations for the Evaluation of LV Diastolic Function by Echocardiography.Out of 218 patients, 162 (74%) had normal diastolic function, 21 (10%) had diastolic dysfunction, and 35 (17%) had indeterminate diastolic function. Diastolic dysfunction were more common in female patients, older patients and associated with sepsis, respiratory and cardiovascular comorbidity as well as higher SAPS Score. In a risk-adjusted logistic regression model, patients with indeterminate diastolic dysfunction (OR 4.3 [1.6-11.4], p=0.004) or diastolic dysfunction (OR 5.1 [1.6-16.5], p=0.006) had an increased risk of death at 90days compared to patients with normal diastolic function.Isolated diastolic dysfunction, assessed by a multi-parameter approach, is common in critically ill patients and is associated with mortality.Secondary analysis of data from a single-center prospective observational study focused on systolic dysfunction in intensive care unit patients (Clinical Trials ID: NCT03787810.
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4. |
- Cavefors, Oscar, et al.
(author)
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Regional left ventricular systolic dysfunction associated with critical illness: incidence and effect on outcome
- 2021
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In: Esc Heart Failure. - : Wiley. - 2055-5822. ; 8:6, s. 5415-5423
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Journal article (peer-reviewed)abstract
- Aims Left ventricular (LV) dysfunction can be triggered by non-cardiac disease, such as sepsis, hypoxia, major haemorrhage, or severe stress (Takotsubo syndrome), but its clinical importance is not established. In this study, we evaluate the incidence and impact on mortality of LV dysfunction associated with critical illness. Methods and results In this single-centre, observational study, consecutive patients underwent an echocardiographic examination within 24 h of intensive care unit (ICU) admission. LV systolic dysfunction was defined as an ejection fraction (EF) < 50% and/or regional wall motion abnormalities (RWMA). A cardiologist assessed patients with LV dysfunction for the presence of an acute or chronic cardiac disease, and coronary angiography was performed in high-risk patients. Of the 411 patients included, 100 patients (24%) had LV dysfunction and in 52 (13%) of these patients, LV dysfunction was not attributed to a cardiac disease. Patients with LV dysfunction and non-cardiac disease had higher mortality risk score (Simplified Acute Physiologic Score 3 score), heart rate, noradrenaline doses, and lactate levels as well as decreased EF, stroke volume, and cardiac output compared with patients with normal LV function. Diagnoses most commonly associated with LV dysfunction and non-cardiac disease were sepsis, respiratory insufficiency, major haemorrhage, and neurological disorders. RWMA (n = 40) with or without low EF was more common than global hypokinesia (n = 12) and was reversible in the majority of cases. Twelve patients had a circumferential pattern of RWMA in concordance with Takotsubo syndrome. Crude 30 day mortality was higher in patients with LV dysfunction and non-cardiac disease compared with patients with normal LV function (33% vs. 18%, P = 0.023), but not after risk adjustment (primary outcome) {odds ratio [OR] 1.56 [confidence interval (CI) 0.75-3.39], P = 0.225}. At 90 days, crude mortality was 44% and 22% (P = 0.002), respectively, in these groups. This difference was also significant after risk adjustment [OR 2.40 (CI 1.18-4.88), P = 0.016]. Conclusions Left ventricular systolic dysfunction is commonly triggered by critical illness, is frequently seen as regional hypokinesia, and is linked to an increased risk of death. The prognostic importance of LV dysfunction in critical illness might be underestimated.
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7. |
- Fristedt, R., et al.
(author)
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PSB33 sustains photosystem II D1 protein under fluctuating light conditions
- 2017
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In: Journal of Experimental Botany. - : Oxford University Press (OUP). - 0022-0957 .- 1460-2431. ; 68:15, s. 4281-4293
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Journal article (peer-reviewed)abstract
- On Earth, solar irradiance varies as the sun rises and sets over the horizon, and sunlight is thus in constant fluctuation, following a slow dark-low-high-low-dark curve. Optimal plant growth and development are dependent on the capacity of plants to acclimate and regulate photosynthesis in response to these changes of light. Little is known of regulative processes for photosynthesis during nocturnal events. The nucleus-encoded plant lineage-specific protein PSB33 has been described as stabilizing the photosystem II complex, especially under light stress conditions, and plants lacking PSB33 have a dysfunctional state transition. To clarify the localization and function of this protein, we used phenomic, biochemical and proteomics approaches in the model plant Arabidopsis. We report that PSB33 is predominantly located in non-appressed thylakoid regions and dynamically associates with a thylakoid protein complex in a light-dependent manner. Moreover, plants lacking PSB33 show an accelerated D1 protein degradation in nocturnal periods, and show severely stunted growth when challenged with fluctuating light. We further show that the function of PSB33 precedes the STN7 kinase to regulate or balance the excitation energy of photosystems I and II in fluctuating light conditions.
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8. |
- Gong, Ningping, et al.
(author)
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Roles of leptin in initiation of acquired growth hormone resistance and control of metabolism in rainbow trout
- 2022
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In: American journal of physiology. Regulatory, integrative and comparative physiology. - : American Physiological Society. - 1522-1490 .- 0363-6119. ; 322:5
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Journal article (peer-reviewed)abstract
- Catabolic conditions often induce concomitant changes in plasma leptin (Lep), growth hormone (GH), and insulin growth factor I (IGF-I) levels in teleost fish, but it is unclear whether these parts of the endocrine system are responding independently or functionally linked. In this study, fasted rainbow trout was used to study the effects of Lep on the GH-IGF-I system and metabolism. Fish were implanted intraperitoneally with recombinant rainbow trout Lep pellets and remained unfed. After 4 days, plasma GH levels were elevated in the Lep-treated fish in a dose-dependent manner; the expression of hepatic igf1 and plasma IGF-I levels were suppressed accordingly. In vitro Lep treatment reversed ovine GH (oGH)-stimulated expression of igf1 and igf2 in hepatocytes isolated from fasted fish, similar to the inhibitory effects of the MEK1/2 inhibitor U0126 treatment. However, Lep treatment alone had no effect on the expression of igfs or oGH-stimulated ghr2a expression in the hepatocytes. These results demonstrate an additive effect of Lep on suppression of IGF-I under catabolic conditions, indicating that Lep is likely involved in initiation of acquired GH resistance. Although the Lep-implant treatment had no effect on standard metabolic rate, it significantly suppressed gene expression of hepatic hydroxyacyl-CoA dehydrogenase, phosphoenolpyruvate carboxykinase, and glucose 6-phosphatase, which are key enzymes in lipid utilization and gluconeogenesis, in different patterns. Overall, this study indicates that the Lep increase in fasting salmonids is an important regulatory component for physiological adaptation during periods of food deprivation, involved in suppressing growth and hepatic metabolism to spare energy expenditure.
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9. |
- Hackl, Roman, 1981, et al.
(author)
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Process integration study of a biorefinery producing ethylene from lignocellulosic feedstock for a chemical cluster
- 2011
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In: 6th Dubrovnik Conference on Sustainable Development of Energy, Water and Environment Systems. ; 2011
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Conference paper (peer-reviewed)abstract
- Biorefineries are a way to achieve the transition from our fossil feedstock based society towards the use of sustainable raw materials. Heat integration can help to increase the overall energy efficiency. Therefore integration of biorefinery concepts with industrial clusters can be advantageous. The chemical cluster investigated in this paper consumes a large amount of ethylene. The integration potential of a lignocellulosic ethanol plant and an ethanol dehydration plant is investigated. Based upon Aspen+ simulations integration opportunities at four different levels were identified using traditional Pinch Analysis and Total Site Analysis (TSA): (1) internal integration within each of the two separate processes; (2) heat integration of the two processes with each other; (3) heat integration of the processes with direct material flow from the upstream process to teh downstream process, and (4) integration of the two combined processes with an existing chemical cluster. Savings of up to 51 % utility steam by integrating the lignocellulosic ethanol production process with the ethylene dehydration and the chemical cluster were identified.
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10. |
- Herdean, Andrei, 1984, et al.
(author)
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A voltage-dependent chloride channel fine-tunes photosynthesis in plants
- 2016
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7:artikel nr 11654
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Journal article (peer-reviewed)abstract
- n natural habitats, plants frequently experience rapid changes in the intensity of sunlight. To cope with these changes and maximize growth, plants adjust photosynthetic light utilization in electron transport and photoprotective mechanisms. This involves a proton motive force (PMF) across the thylakoid membrane, postulated to be affected by unknown anion (Cl−) channels. Here we report that a bestrophin-like protein from Arabidopsis thaliana functions as a voltage-dependent Cl− channel in electrophysiological experiments. AtVCCN1 localizes to the thylakoid membrane, and fine-tunes PMF by anion influx into the lumen during illumination, adjusting electron transport and the photoprotective mechanisms. The activity of AtVCCN1 accelerates the activation of photoprotective mechanisms on sudden shifts to high light. Our results reveal that AtVCCN1, a member of a conserved anion channel family, acts as an early component in the rapid adjustment of photosynthesis in variable light environments.
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