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31.
Andreas Brodehl Alexey Meshkov Roman Myasnikov Anna Kiseleva Olga Kulikova Brbel Klauke Evgeniia Sotnikova Caroline Stanasiuk Mikhail Divashuk Greta Marie Pohl Maria Kudryavtseva Karin Klingel Brenda Gerull Anastasia Zharikova Jan Gummert Sergey Koretskiy Stephan Schubert Elena Mershina Anna Grtner Polina Pilus Kai Thorsten Laser Valentin Sinitsyn Sergey Boytsov Oxana Drapkina Hendrik Milting 《International journal of molecular sciences》2021,22(7)
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases. 相似文献
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Peter Meszmer Karla Hiller Steffen Hartmann Alexey Shaporin Daniel May Raul David Rodriguez Jörg Arnold Gianina Schondelmaier Jan Mehner Dietrich R. T. Zahn Bernhard Wunderle 《Microsystem Technologies》2014,20(6):1041-1050
In this paper, a novel concept of a thermo-mechanical MEMS actuator using aluminum thin-film heaters on a thermal oxide for electrical insulation is presented. The actuator is part of an universal tensile testing platform for thermo-mechanical material characterization of one dimensional materials on a micro- and nano-scopic scale under different environmental conditions, as varying temperatures, pressure, moisture or even vacuum and is realised in BDRIE technology. It is shown, that the actuator concept fulfills the requirements for the use in a tensile loading stage along with heterogeneously integrated nanofunctional elements, following a specimen centered approach in line with bottom-up self-assembly processes. Simulation and experiment agree very well in the thermal and mechanical domain and allow subsequent optimisation of the actuator performance. 相似文献
35.
B. F. Boyarshinov V. I. Titkov S. Yu. Fedorov 《Combustion, Explosion, and Shock Waves》2005,41(4):379-385
The influence of free-stream turbulence on the distributions of CH and OH radicals is studied with the use of optical methods of measurements in focused beams. The data on CH concentration are obtained for the minimum level of turbulence, and the OH concentration profiles are obtained for three levels of velocity fluctuations: 1, 8, and 18. It is shown that the regions where the OH and CH radicals are observed in the laminar boundary layer are shifted from the temperature maximum toward the oxidizer zone and toward the fuel zone, respectively. The highest level of the OH concentration is close to values typical of hydrogen combustion. The root-mean-square fluctuations of velocity and the mean values of the OH concentration vary nonmonotonically along the flame.__________Translated from Fizika Goreniya i Vzryva, Vol. 41, No. 4, pp. 22–28, July–August, 2005. 相似文献
36.
Discrete-continual model of flame propagation in a gas suspension of metal particles. I. One-dimensional approximation 总被引:1,自引:0,他引:1
Experimental data on combustion of magnesium particles in oxygen-containing gas mixtures are analyzed and generalized, which allowed us to develop a semi-empirical mathematical model that takes into account the integral effect of the initial particle size, pressure, and velocity of the oxidizing flow on combustion. Flame propagation in an air suspension of fine magnesium particles is considered in a one-dimensional approximation. For this purpose, a discrete-continual model of flame propagation in a gas suspension of metal particles is developed. The flammability limits in a vessel, caused by heat losses into the ambient medium and by spatial nonuniformity of the distribution of disperse-phase particles, are numerically determined, and the influence of nonuniformity and bidispersion of a one-dimensional ensemble of particles on flame characteristics is studied.__________Translated from Fizika Goreniya i Vzryva, Vol. 41, No. 2, pp. 81–93, March–April, 2005. 相似文献
37.
A. V. Fedorov 《Combustion, Explosion, and Shock Waves》2004,40(1):17-31
A review is made of uptodate investigations in the field of physicomathematical modeling of mixing of solid particles with highvelocity gas flows arising under the action on shock waves, compression waves, and expansion waves on unstable dust deposits on the boundaries of channels or plates and in cavities, as well as on free clouds of particles. In particular, experiments in shock tubes with particles initially located in cavities and on surfaces are described. The experimental data presented in the form of distributions of particle concentrations at various points of space above the unstable layer, pressure distributions on the lower wall of the shock tube, etc., are used for verification of proposed mathematical models in regimes of single particles, interacting continua, and turbulent diffusion. An analysis of experimental and numerical data shows that the models considered sometimes allow adequate identification of the wave structure of motion of the mixture and the field of parameters inside and outside the layer. 相似文献
38.
This study was devoted to the prediction of polymer material aging. The prediction of the shelf time of tire rubber is used as an example in this article. The main steps of the whole procedure are described. They are the design of the experiment, accelerated aging testing, the construction of a multiresponse mathematical model and parameter estimation, and the extrapolation of the model in real‐life settings. The main pitfalls were deduced, and techniques to overcome these pitfalls are described. Novel methods of data modeling, such as evolutionary design of experiment and successive Bayesian estimation, were used. © 2005 Wiley Periodicals, Inc. J Appl Polym Sci 95: 1275–1284, 2005 相似文献
39.
L. G. Baikova Yu. K. Fedorov V. P. Pukh L. V. Tikhonova T. P. Kazannikova A. B. Sinani S. I. Nikitina 《Glass Physics and Chemistry》2004,30(5):420-424
The possibility of improving the mechanical properties of potassium aluminum metaphosphate glasses through the introduction of silicon oxide into the glass composition is analyzed. It is shown that the elastic moduli (Young modulus, shear modulus, Poisson ratio) and the hardness remain almost unchanged with an increase in the content of silicon oxide in the glass. At the same time, the structural strength increases by a factor of 1.7 and the fracture toughness increases by a factor of 1.3. The assumption is made that the observed increase in the structural strength is associated with the incorporation of silicon ions into the structure of the metaphosphate glass in the octahedral coordination. 相似文献
40.
A. V. Fedorov 《Combustion, Explosion, and Shock Waves》1994,30(4):492-499
Within the framework of the mechanics of heterogeneous media undergoing phase transformations, we propose a mathematical model for describing the flow of a mixture of gas and liquid (solid) metal particles. We consider the difference between the velocities and temperatures of the phases and the nonequilibrium nature of the phase transition. As an example, we solve the problem of the structure of a shock wave in an air suspension of melting particles. We isolate the conditions determining the monotonic and nonmonotonic temperature behavior of the mixture. We present numerical data illustrating the determined types of motion of the gas suspension.Institute of Theoretical and Applied Mechanics, Siberian Branch, Russian Academy of Sciences, Novosibirsk 630090. Translated from Fizika Goreniya i Vzryva, Vol. 30, No. 4, pp. 91–99, July–August, 1994. 相似文献