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11.
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
12.
Anna A. Pendina Mikhail I. Krapivin Olga A. Efimova Andrei V. Tikhonov Irina D. Mekina Evgeniia M. Komarova Alla S. Koltsova Alexander M. Gzgzyan Igor Yu. Kogan Olga G. Chiryaeva Vladislav S. Baranov 《International journal of molecular sciences》2021,22(11)
The human lifespan is strongly influenced by telomere length (TL) which is defined in a zygote—when two highly specialised haploid cells form a new diploid organism. Although TL is a variable parameter, it fluctuates in a limited range. We aimed to establish the determining factors of TL in chromosomes of maternal and paternal origin in human triploid zygotes. Using Q-FISH, we examined TL in the metaphase chromosomes of 28 human triploid zygotes obtained from 22 couples. The chromosomes’ parental origin was identified immunocytochemically through weak DNA methylation and strong hydroxymethylation in the sperm-derived (paternal) chromosomes versus strong DNA methylation and weak hydroxymethylation in the oocyte-derived (maternal) ones. In 24 zygotes, one maternal and two paternal chromosome sets were identified, while the four remaining zygotes contained one paternal and two maternal sets. For each zygote, we compared mean relative TLs between parental chromosomes, identifying a significant difference in favour of the paternal chromosomes, which attests to a certain “imprinting” of these regions. Mean relative TLs in paternal or maternal chromosomes did not correlate with the respective parent’s age. Similarly, no correlation was observed between the mean relative TL and sperm quality parameters: concentration, progressive motility and normal morphology. Based on the comparison of TLs in chromosomes inherited from a single individual’s gametes with those in chromosomes inherited from different individuals’ gametes, we compared intraindividual (intercellular) and interindividual variability, obtaining significance in favour of the latter and thus validating the role of heredity in determining TL in zygotes. A comparison of the interchromatid TL differences across the chromosomes from sets of different parental origin with those from PHA-stimulated lymphocytes showed an absence of a significant difference between the maternal and paternal sets but a significant excess over the lymphocytes. Therefore, interchromatid TL differences are more pronounced in zygotes than in lymphocytes. To summarise, TL in human zygotes is determined both by heredity and parental origin; the input of other factors is possible within the individual’s reaction norm. 相似文献
13.
Mikhail B. NovikovAlexandra Roos Costantino CretonMikhail M. Feldstein 《Polymer》2003,44(12):3561-3578
Mechanical properties of miscible blends of high molecular weight poly(N-vinyl pyrrolidone) (PVP) with a short-chain, liquid poly(ethylene glycol) (PEG) of molecular weight 400 g/mol have been examined as a function of PVP-PEG composition and degree of hydration. The small-strain behavior in the linear elastic region has been evaluated with the dynamic mechanical analysis and compared with the viscoelastic behavior of PVP-PEG blends under large strains in the course of uniaxial drawing to fracture and under cyclic extension. A strong decoupling between the small-strain and the large strain properties of the blends has been observed, indicative of a pronounced deviation from rubber elasticity in the behavior of the blends. This deviation, also seen on tensile tests under fast drawing, is attributed to the peculiar phase behavior of the blends and the molecular mechanism of PVP-PEG interaction. Nevertheless, for the PVP blend with 36% PEG, under comparatively low extension rates, the reversible contribution to the total work of deformation up to ε=300% has been found to be maximum at around 70%, while the blends containing 31 and 41% PEG behave rather as an elastic-plastic solid and a viscoelastic liquid, respectively. 相似文献
14.
Valerii S. Kozlov Elena P. Yausheva Svetlana A. Terpugova Mikhail V. Panchenko Dmitriy G. Chernov Vladimir P. Shmargunov 《International journal of remote sensing》2014,35(15):5722-5741
A comprehensive experiment on the study of dynamics of optical and microphysical characteristics of submicron aerosols in the near-ground air layer was carried out in June–August of 2012 under conditions of extremely strong smoke haze originating from vast forest fires in Siberia. Variations of the spectral angular scattering coefficients and the degree of linear polarization in the visible wavelength range are studied, as well as the mass concentrations of dry fractions of aerosol and black carbon, relative content of black carbon (BC fraction), single scattering albedo, particle size distribution function, complex refractive index of the particulate matter, and parameter of condensation activity of aerosol. Peculiarities of differences between optical and microphysical characteristics of near-ground aerosol in smoke haze and under smokeless conditions are revealed. This study is important for validation of results of remote sensing of the composition of smoke haze and background atmosphere obtained from satellite data and sun photometric measurements at the Aerosol Robotic Network (AERONET). 相似文献
15.
R. Sh. Mikhail R. I. A. Malek 《Journal of chemical technology and biotechnology (Oxford, Oxfordshire : 1986)》1971,21(10):277-282
Specific surface areas and pore size distribution analysis were taken as essential parameters to explore the microstructure of hardened gypsum pastes. The hydration of gypsum plaster is essentially affected by the water/plaster ratio of the mix, and by the presence of additives which might act as retarders or accelerators to the hydration process. Affecting the microstructure would mutually lead to variations of the compressive strength of the hardened pastes, and these variations are also discussed. Results are mainly expressed in terms of the solid (measured by the extent of its specific area) to the space (pore) ratios. Dual distribution of pore sizes was observed and the two groups of pores are designed as S (small) and L (large) pores. Similarities to the microstructure of hardened Portland cement pastes are indicated. Accelerators appear to function differently from retarders, and the effects of water/plaster ratios were investigated in both cases. The results obtained may carry many significant practical implications to the future use of hardened gypsum pastes. 相似文献
16.
Raouf Sh. Mikhail Suzy A. Selim Farouk I. Zeidan 《Journal of chemical technology and biotechnology (Oxford, Oxfordshire : 1986)》1976,26(4):191-198
The surface properties of a stannic oxide gel and its thermal dehydration products obtained both in vacuo and in the presence of air in the temperature range 100–600°C have been examined by N2 adsorption. Phase and structural changes have been followed by differential thermal analysis and X-ray diffractometry. Complete pore structure analysis showed that samples dehydrated at or below 250°C were microporous. Above 250°C the pores were found to widen with increase of temperature, the widening occurring concurrently with the crystallisation process. Doping with cations of lower valency (Li+ and Al3+) than the host cation (Sn4+) had little effect on the pore structure and specific surface area for the low temperature samples (≤250°), whereas at higher temperatures, e.g. 600°C, it increased the specific area remarkably. The dope ions produce oxygen vacancies and hinder or retard sintering in SnO2. 相似文献
17.
Development of microstructure in four hydrothermal reactions has been undertaken using scanning electron microscopy. These are clinker, clinker-sand, slag-lime and slag-lime-sand hydrothermal reactions. The microstructure of clinker hydration products displayed crumpled foils and tabular masses of calcium silicate hydrates; few cubic crystals of hydrogarnet appeared only during the initial stage of the reaction. In clinker-sand mixture the C-S-H phase was the only product identified. In slag-lime hydration the microstructure displayed both of the hydrogarnet crystals and the C-S-H phase. The hydration of slag-lime-sand mixture (an optimum composition) was associated with the formation of ill-crystallized tobermorite and crystalline 11A tobermorite as the main products. 相似文献
18.
In the course of their small angle x-ray scattering work, Winslow and Diamond also calculated the radius of gyration of the pores. Using its value for a paste, Diamond adopted two models for the average pore: a sphere and a cylinder of equal height and diameter. This model leads to absurd values for the surface area of the paste. Using a cylindrical model, and the radius of gyration plus the hydraulic radius, the present authors calculated for a similar paste the dimensions of the average pore and obtained the values: . The number of pores per gram of paste was 2.26 × 1017. The paper also discusses the surface area of hardened paste, and points out the extremely important contributions of Winslow and Diamond to the subject. 相似文献
19.
Mikhail GelferRoland H Horst H.Henning Winter Amy M HeintzShaw Ling Hsu 《Polymer》2003,44(8):2363-2371
The effect of molecular architecture on the evolution of viscoelastic properties during crystallization was investigated using ethylene-hexene copolymers manufactured via metallocene (M-LLDPE) and Ziegler-Natta (ZN-LLDPE) processes. Differences in branching distribution were shown to have a drastic effect on the viscoelastic properties near the gel point. It is shown that the branching distribution rather than branch content is the determining parameter for the evolution of the rheological properties during isothermal and non-isothermal crystallization, and for the width of the solidification interval. We developed a partial melting technique for the preparation of stable critical gels of LLDPE whose viscoelastic properties correspond to the intermediate state between melt and solid. Local molecular conformation and crystallinity in these gels were characterized by Raman spectroscopy, which shows that the transition from melt-like to solid-like rheological behavior (physical gelation) in LLDPE occurs at a very low overall crystallinity of less than 5%. 相似文献
20.
Kabanov Alexander V.; Klyachko Natalya L.; Nametkin Sergei N.; Merker Steffen; Zaroza Anna V.; Bunik Vita I.; Ivanov Mikhail V.; Levashov Andrey V. 《Protein engineering, design & selection : PEDS》1991,4(8):1009-1017
The size of the inner water cavity of reversed micelles formedin a triple system water-surfactant-organic solventcan be widely varied by changing the degree of surfactant hydration.This gives grounds to use reversed micelles as matrix microreactorsfor the design of supramolecular complexes of proteins. Usingultracentrifugation analysis, it has been demonstrated thatthe oligomeric composition of various enzymes (ketoglutaratedehydrogenase, alkaline phosphatase, lactic dehydrogenase, glyceraldehyde-3-phosphatedehydrogenase) solubilized in reversed micelles of Aerosol OT[sodium bis(2-ethylehexyl)sulfosuccinate] in octane changesupon variation of the degree of hydration. An oligomeric complexforms under conditions when the radius of the micelle innercavity is big enough to incorporate this complex as a whole.At lower degrees of hydration the micelles uncouplesuch complexes to their components. The catalytic propertiesof various oligomeric complexes have been studied. Possibilitiesof using reversed micelles for the separation of subunits ofoligomeric enzymes under non-denaturating conditions have beendemonstrated. In particular, the isolated subunits of alkalinephosphatase, lactic dehydrogenase and glyceralde-hyde-3-phosphatedehydrogenase have been found to be active in Aerosol OT reversedmicelles. The dependences of the catalytic activity of oligomericenzymes represent saw-like curves. The maxima of the catalyticactivity observed at these curves relate to the functioningof various oligomeric forms of an enzyme. The radii of the micelleinner cavity under conditions when these maxima are observedcorrelate with the linear dimensions of the enzyme oligomericforms. Correlation of the position of a maximum with the shapeof an oligomeric complex is discussed. 相似文献