| 1. |
- Gaertner, A, et al.
(författare)
-
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy
- 2021
-
Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 12:6
-
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.
|
|
| 2. |
- Gkoutzamanis, V. G., et al.
(författare)
-
Thermal Management System Considerations for a Hybrid-Electric Commuter Aircraft
- 2022
-
Ingår i: Journal of thermophysics and heat transfer. - : AIAA International. - 0887-8722 .- 1533-6808. ; 36:3, s. 650-666
-
Tidskriftsartikel (refereegranskat)abstract
- When it comes to novel aircraft concepts, thermal management system (TMS) design is a ubiquitous task, even at the conceptual design phase. This is owing to its impact on the total weight of the aircraft, cooling drag, and overall performance. The commuter air transportation has recently regained attention and is seen as a solution to employ partial or full electrification in the upcoming decades due to its low power requirement and potential benefit of faster “door-to-door” traveling. This work examines the TMS characteristics to cool a battery-powered aft-fan engine. A literature review is initially performed on other research associated with TMS design. The development and weight evaluation of the baseline TMS for this type of propulsive technology are then presented, including the characterization of system redundancy effects on the overall TMS weight. Results show that the TMS design is a function of the selected propulsive configuration and energy management throughout the mission. Primarily, this relates to the cooling method selected, the heat exchangers as the major mass contributors of the TMS, the positioning of components used for the propulsive configuration, and the imposed certification constraints. Finally, the selected TMS design is calculated to have a combined specific cooling of 0.79 kW∕kg.
|
|
