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- 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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| 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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| 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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