| 1. |
- Gaertner, A, et al.
(författare)
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The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy
- 2021
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 12:6
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Tidskriftsartikel (refereegranskat)abstract
- A major cause of heart failure is cardiomyopathies, with dilated cardiomyopathy (DCM) as the most common form. Over 40 genes are linked to DCM, among them TTN and RBM20. Next Generation Sequencing in clinical DCM cohorts revealed truncating variants in TTN (TTNtv), accounting for up to 25% of familial DCM cases. Mutations in the cardiac splicing factor RNA binding motif protein 20 (RBM20) are also known to be associated with severe cardiomyopathies. TTN is one of the major RBM20 splicing targets. Most of the pathogenic RBM20 mutations are localized in the highly conserved arginine serine rich domain (RS), leading to a cytoplasmic mislocalization of mutant RBM20. Here, we present a patient with an early onset DCM carrying a combination of (likely) pathogenic TTN and RBM20 mutations. We show that the splicing of RBM20 target genes is affected in the mutation carrier. Furthermore, we reveal RBM20 haploinsufficiency presumably caused by the frameshift mutation in RBM20.
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| 2. |
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| 3. |
- Ruti, P. M., et al.
(författare)
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The West African climate system: a review of the AMMA model inter-comparison initiatives
- 2011
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Ingår i: Atmospheric Science Letters. - : Wiley. - 1530-261X. ; 12:1, s. 116-122
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Tidskriftsartikel (refereegranskat)abstract
- We review the African Monsoon Multidisciplinary Analysis (AMMA) model inter-comparison activities for West Africa. The Model Inter-comparison Project is an evaluation exercise of how global and regional atmospheric models represent seasonal and intra-seasonal variations of the climate and rainfall over the Sahel. The Land surface Model Inter-comparison Project in turn focuses on modelling critical land surface processes over West Africa and on their link with the atmosphere. The CHEmistry Model Inter-comparison Project (CHEMIP) is a comparison of the tropospheric composition as simulated by a number of Chemical Transport Models (CTM) and Chemistry-Climate Models. We highlight the main model limitations and provide recommendations for future development. Copyright. (C) 2011 Royal Meteorological Society
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| 4. |
- Vardelle, Armelle, et al.
(författare)
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Erratum to The 2016 Thermal Spray Roadmap
- 2017
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Ingår i: Journal of thermal spray technology (Print). - : Springer Science and Business Media LLC. - 1059-9630 .- 1544-1016. ; 26:5, s. 985-986
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Tidskriftsartikel (refereegranskat)
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| 5. |
- Vardelle, Armelle, et al.
(författare)
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The 2016 Thermal Spray Roadmap
- 2016
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Ingår i: Journal of thermal spray technology (Print). - : Springer Science and Business Media LLC. - 1059-9630 .- 1544-1016. ; 25:8, s. 1376-1440
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Tidskriftsartikel (refereegranskat)abstract
- Considerable progress has been made over the last decades in thermal spray technologies, practices and applications. However, like other technologies, they have to continuously evolve to meet new problems and market requirements. This article aims to identify the current challenges limiting the evolution of these technologies and to propose research directions and priorities to meet these challenges. It was prepared on the basis of a collection of short articles written by experts in thermal spray who were asked to present a snapshot of the current state of their specific field, give their views on current challenges faced by the field and provide some guidance as to the R&D required to meet these challenges. The article is divided in three sections that deal with the emerging thermal spray processes, coating properties and function, and biomedical, electronic, aerospace and energy generation applications. © 2016, ASM International.
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| 6. |
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| 7. |
- Zimmermann, F., et al.
(författare)
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Origin of orange color in nominally undoped HVPE GaN crystals
- 2017
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Ingår i: Optical materials (Amsterdam). - : ELSEVIER SCIENCE BV. - 0925-3467 .- 1873-1252. ; 70, s. 127-130
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Tidskriftsartikel (refereegranskat)abstract
- In this article we investigated unintentionally doped (UID) GaN grown by hydride vapor phase epitaxy (HVPE) with respect to point defects and impurity concentration. The samples were orange tinted to different extent. Optical analysis was performed by micro-photoluminescence and absorption spectroscopy. Absorption measurements revealed an absorption peak at 1.5 eV related to an internal transition in Mn3+ impurities and a second band with low energy onset at 1.9 eV, both increasing with the extent of orange color. Electron paramagnetic resonance investigations showed the presence of Mn2+ and Fe3+ in the colored crystals. The overall impurity concentration was verified by secondary ion mass spectrometry. Orange tint is associated with an increase of transition metal contamination, especially Mn. Based on these observations we suggest that the orange coloring in the investigated UID HVPE GaN samples is caused by the presence of Mn impurities. (C) 2017 Elsevier B.V. All rights reserved.
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| 8. |
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| 10. |
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| 11. |
- Martin, Maria A., et al.
(författare)
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Ten new insights in climate science 2021 : a horizon scan
- 2021
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Ingår i: Global Sustainability. - : Cambridge University Press (CUP). - 2059-4798. ; 4, s. 1-20
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Forskningsöversikt (refereegranskat)abstract
- Non-technical summary: We summarize some of the past year's most important findings within climate change-related research. New research has improved our understanding about the remaining options to achieve the Paris Agreement goals, through overcoming political barriers to carbon pricing, taking into account non-CO2 factors, a well-designed implementation of demand-side and nature-based solutions, resilience building of ecosystems and the recognition that climate change mitigation costs can be justified by benefits to the health of humans and nature alone. We consider new insights about what to expect if we fail to include a new dimension of fire extremes and the prospect of cascading climate tipping elements.Technical summary: A synthesis is made of 10 topics within climate research, where there have been significant advances since January 2020. The insights are based on input from an international open call with broad disciplinary scope. Findings include: (1) the options to still keep global warming below 1.5 °C; (2) the impact of non-CO2 factors in global warming; (3) a new dimension of fire extremes forced by climate change; (4) the increasing pressure on interconnected climate tipping elements; (5) the dimensions of climate justice; (6) political challenges impeding the effectiveness of carbon pricing; (7) demand-side solutions as vehicles of climate mitigation; (8) the potentials and caveats of nature-based solutions; (9) how building resilience of marine ecosystems is possible; and (10) that the costs of climate change mitigation policies can be more than justified by the benefits to the health of humans and nature.Social media summary: How do we limit global warming to 1.5 °C and why is it crucial? See highlights of latest climate science.
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| 12. |
- Mohan Pawar, Prashant, et al.
(författare)
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Downregulation of RWA genes in hybrid aspen affects xylan acetylation and wood saccharification
- 2017
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Ingår i: New Phytologist. - : Wiley-Blackwell Publishing Inc.. - 0028-646X .- 1469-8137. ; 214:4, s. 1491-1505
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Tidskriftsartikel (refereegranskat)abstract
- High acetylation of angiosperm wood hinders its conversion to sugars by glycoside hydrolases, subsequent ethanol fermentation and (hence) its use for biofuel production. We studied the REDUCED WALL ACETYLATION (RWA) gene family of the hardwood model Populus to evaluate its potential for improving saccharification. The family has two clades, AB and CD, containing two genes each. All four genes are expressed in developing wood but only RWA-A and -B are activated by master switches of the secondary cell wall PtNST1 and PtMYB21. Histochemical analysis of promoter:: GUS lines in hybrid aspen (Populus tremula x tremuloides) showed activation of RWA-A and -B promoters in the secondary wall formation zone, while RWA-C and -D promoter activity was diffuse. Ectopic downregulation of either clade reduced wood xylan and xyloglucan acetylation. Suppressing both clades simultaneously using the wood-specific promoter reduced wood acetylation by 25% and decreased acetylation at position 2 of Xylp in the dimethyl sulfoxide-extracted xylan. This did not affect plant growth but decreased xylose and increased glucose contents in the noncellulosic monosaccharide fraction, and increased glucose and xylose yields of wood enzymatic hydrolysis without pretreatment. Both RWA clades regulate wood xylan acetylation in aspen and are promising targets to improve wood saccharification.
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| 13. |
- Mohan Pawar, Prashant, et al.
(författare)
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Expression of fungal acetyl xylan esterase in Arabidopsis thaliana improves saccharification of stem lignocellulose
- 2016
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Ingår i: Plant Biotechnology Journal. - : Wiley. - 1467-7644 .- 1467-7652. ; 14:1, s. 387-397
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Tidskriftsartikel (refereegranskat)abstract
- Cell wall hemicelluloses and pectins are O-acetylated at specific positions, but the significance of these substitutions is poorly understood. Using a transgenic approach, we investigated how reducing the extent of O-acetylation in xylan affects cell wall chemistry, plant performance and the recalcitrance of lignocellulose to saccharification. The Aspergillus niger acetyl xylan esterase AnAXE1 was expressed in Arabidopsis under the control of either the constitutively expressed 35S CAMV promoter or a woody-tissue-specific GT43B aspen promoter, and the protein was targeted to the apoplast by its native signal peptide, resulting in elevated acetyl esterase activity in soluble and wall-bound protein extracts and reduced xylan acetylation. No significant alterations in cell wall composition were observed in the transgenic lines, but their xylans were more easily digested by a beta-1,4-endoxylanase, and more readily extracted by hot water, acids or alkali. Enzymatic saccharification of lignocellulose after hot water and alkali pretreatments produced up to 20% more reducing sugars in several lines. Fermentation by Trametes versicolor of tissue hydrolysates from the line with a 30% reduction in acetyl content yielded similar to 70% more ethanol compared with wild type. Plants expressing 35S: AnAXE1 and pGT43B:AnAXE1 developed normally and showed increased resistance to the biotrophic pathogen Hyaloperonospora arabidopsidis, probably due to constitutive activation of defence pathways. However, unintended changes in xyloglucan and pectin acetylation were only observed in 35S: AnAXE1-expressing plants. This study demonstrates that postsynthetic xylan deacetylation in woody tissues is a promising strategy for optimizing lignocellulosic biomass for biofuel production.
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| 14. |
- Paeth, Heiko, et al.
(författare)
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Progress in regional downscaling of west African precipitation
- 2011
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Ingår i: Atmospheric Science Letters. - : Wiley. - 1530-261X. ; 12:1, s. 75-82
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Tidskriftsartikel (refereegranskat)abstract
- We review the recent progress in dynamical and statistical downscaling approaches for west African precipitation and perform a regional climate model (RCM) intercomparison using the novel multi-model RCM data set from the Ensembles-based Predictions of Climate Changes and Their Impacts (ENSEMBLES) and African Monsoon Multidisciplinary Analyses (AMMA) projects. Present RCMs have distinct systematic errors in terms of west African precipitation varying in amplitude and pattern across models. This is also reflected in a relatively large spread in projected future precipitation trends. Altogether, the ENSEMBLES RCMs indicate a prevailing drying tendency in sub-Saharan Africa. Statistical post-processing of simulated precipitation is a promising tool to reduce systematic model errors before application in impact studies.
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| 15. |
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| 16. |
- von Sarnowski, Bettina, et al.
(författare)
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Lifestyle Risk Factors for Ischemic Stroke and Transient Ischemic Attack in Young Adults in the Stroke in Young Fabry Patients Study
- 2013
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Ingår i: Stroke: a journal of cerebral circulation. - 1524-4628. ; 44:1, s. 119-125
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Tidskriftsartikel (refereegranskat)abstract
- Background and Purpose-Although many stroke patients are young or middle-aged, risk factor profiles in these age groups are poorly understood. Methods-The Stroke in Young Fabry Patients (sifap1) study prospectively recruited a large multinational European cohort of patients with cerebrovascular events aged 18 to 55 years to establish their prevalence of Fabry disease. In a secondary analysis of patients with ischemic stroke or transient ischemic attack, we studied age-and sex-specific prevalences of various risk factors. Results-Among 4467 patients (median age, 47 years; interquartile range, 40-51), the most frequent well-documented and modifiable risk factors were smoking (55.5%), physical inactivity (48.2%), arterial hypertension (46.6%), dyslipidemia (34.9%), and obesity (22.3%). Modifiable less well-documented or potentially modifiable risk factors like high-risk alcohol consumption (33.0%) and short sleep duration (20.6%) were more frequent in men, and migraine (26.5%) was more frequent in women. Women were more often physically inactive, most pronouncedly at ages <35 years (18-24: 38.2%; 25-34: 51.7%), and had high proportions of abdominal obesity at age 25 years or older (74%). Physical inactivity, arterial hypertension, dyslipidemia, obesity, and diabetes mellitus increased with age. Conclusions-In this large European cohort of young patients with acute ischemic cerebrovascular events, modifiable risk factors were highly prevalent, particularly in men and older patients. These data emphasize the need for vigorous primary and secondary prevention measures already in young populations targeting modifiable lifestyle vascular risk factors. Clinical Trial Registration-URL: http://www.clinicaltrials.gov. Unique Identifier: NCT00414583. (Stroke. 2013; 44: 119-125.)
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