| 3. |
- Kuhl, Angelika, et al.
(författare)
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Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 : corroboration and narrowing of the critical region on 10q22.3
- 2008
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 16:3, s. 367-373
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Tidskriftsartikel (refereegranskat)abstract
- Several years ago, autosomal dominant myofibrillar myopathy (MFM) in combination with arrhythmogenic right ventricular cardiomyopathy (ARVC7) was tentatively mapped to a 10.6-Mbp (million base pairs) region on chromosome 10q22.3 between D10S605 (78.9 Mbp) and D10S215 (89.5 Mbp) in a Swedish family assuming that ARVC7 was allelic with cardiomyopathy, dilated 1C (CMD1C). To date, neither the genetic defect in ARVC7 nor CMD1C has been reported. In a comprehensive follow-up study were-examined and confirmed the previous linkage data for ARVC7 using a high-density single nucleotide polymorphism marker panel from Affymetrix (Human Mapping 10K Array). No other regions with significant evidence for linkage were discovered. The critical interval was narrowed down to 4.27 Mbp between D10S1645 and D10S1786. This reduced the total number of candidate genes to 18 of which 17 (RAI17, PPIF, C100RF56, SFTPA1, SFTPA2, SFTPA1B, SFTPA2B, SFTPD, C100RF57, PLAC9, ANXA11, MAT1A, DYDC1, DYDC2, C100RF58, TSPAN14 and SH2D4B) are shared with the CMD1C region. No disease-causing mutation was found in their coding regions. Moreover, metavinculin (VCL) and ZASP/cypher (LDB3) proximal and distal to this linked region were excluded by sequence analysis. To search for submicroscopic and intragenic deletions by PCR, we generated hybrid cell lines carrying only the affected or normal chromosome 10 homolog. All sequence tagged sites and exons were present on both homologs. We speculate that regulatory mutations in 1 of the 18 genes from 10q22.3 are responsible for a heterogenous spectrum of clinically distinct myodegenerative disorders, affecting both skeletal and cardiac muscles to variable degrees.
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| 4. |
- Risseh, Arash, 1980-, et al.
(författare)
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Electrical performance of directly attached SiC power MOSFET bare dies in a half-bridge configuration
- 2017
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Ingår i: 2017 IEEE 3rd International Future Energy Electronics Conference and ECCE Asia, IFEEC - ECCE Asia 2017. - Taiwan : Institute of Electrical and Electronics Engineers (IEEE). - 9781509051571 ; , s. 417-421
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Konferensbidrag (refereegranskat)abstract
- The demand for high-efficiency power converters is increasing continuously. The switching losses are typically significant in power converters. During the switching time, the component is exposed to a considerable voltage and current causing power loss. The switching time is limited by parasitic inductance produced by traces and interconnections inside and outside the package of a device. Moreover, the parasitic inductances at the input-terminal together with the Miller capacitance generate oscillations causing instability and additional losses. In order to eliminate the package parasitic inductance, four 1.2kV SiC-MOSFET bare dies, two in parallel in each position, were directly attached to a PCB sandwich designed as a half bridge. The obtained structure forms a planar power module. From ANSYS Q3D simulations it was found that the parasitic inductance between drain and source for each transistor in the proposed planar module could be reduced 92 % compared to a TO247 package. The planar module was also tested as a dc-dc converter. Switching waveforms from these experiments are also presented
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