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排序方式: 共有107条查询结果,搜索用时 46 毫秒
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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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Greta Lindwall Karin Frisk Jörgen Andersson Anna Medvedeva Odd Sandberg Ingo Siller 《BHM Berg- und Hüttenm?nnische Monatshefte》2012,157(11):406-413
We present experimental and theoretical comparisons of the coarsening rate for the MX (X?=?C, N or C?+?N) precipitate in five different tool steel grades produced by Powder Metallurgy (PM). The alloys contain different amounts of nitrogen and carbon; ranging from high carbon/low nitrogen to high nitrogen/low carbon. Common for the grades is a high amount of precipitate forming alloying elements resulting in a high fraction of hard phase. Experimentally we have found out that the nitrogen rich precipitates coarsen slower, both for higher and lower carbon content, than the carbon rich precipitates. Coarsening simulations are performed utilizing the DICTRA software and an agreement between calculations and measurements can be concluded. 相似文献
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While information on multidimensional constructs and empirical methods has become more accessible, there remain substantial challenges to theorizing about their form and implications. There are at least two ostensible reasons for such difficulties. First is the issue of terminology; many different terms are currently used to represent the same structural concept, and there is no evidence of standardization taking place around a single set of terms. Second, many studies do not clearly explain the theoretical reasons for choosing the specific multidimensional form of their constructs. To address these deficiencies, we use concepts from the research methods literature, and illustrations from the information systems (IS) literature, to review definitions and issues related to conceptualizing and operationalizing structural models that include multidimensional constructs. Such advice is necessary if we are going to develop and test increasingly sophisticated theoretical models in IS research. We also offer guidelines about how to conceptualize specific forms of multidimensional constructs. By lending greater conceptual clarity to the literature, we believe that this paper provides a foundation for future research incorporating multidimensional constructs in empirical analysis. 相似文献
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Greta Jarockyte Egle Daugelaite Marius Stasys Urte Statkute Vilius Poderys Ting-Chen Tseng Shan-Hui Hsu Vitalijus Karabanovas Ricardas Rotomskis 《International journal of molecular sciences》2016,17(8)
The uptake and distribution of negatively charged superparamagnetic iron oxide (Fe3O4) nanoparticles (SPIONs) in mouse embryonic fibroblasts NIH3T3, and magnetic resonance imaging (MRI) signal influenced by SPIONs injected into experimental animals, were visualized and investigated. Cellular uptake and distribution of the SPIONs in NIH3T3 after staining with Prussian Blue were investigated by a bright-field microscope equipped with digital color camera. SPIONs were localized in vesicles, mostly placed near the nucleus. Toxicity of SPION nanoparticles tested with cell viability assay (XTT) was estimated. The viability of NIH3T3 cells remains approximately 95% within 3–24 h of incubation, and only a slight decrease of viability was observed after 48 h of incubation. MRI studies on Wistar rats using a clinical 1.5 T MRI scanner were showing that SPIONs give a negative contrast in the MRI. The dynamic MRI measurements of the SPION clearance from the injection site shows that SPIONs slowly disappear from injection sites and only a low concentration of nanoparticles was completely eliminated within three weeks. No functionalized SPIONs accumulate in cells by endocytic mechanism, none accumulate in the nucleus, and none are toxic at a desirable concentration. Therefore, they could be used as a dual imaging agent: as contrast agents for MRI and for traditional optical biopsy by using Prussian Blue staining. 相似文献
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In many areas of Northern and Western Alaska, small streams and shallow lakes serve as community raw water supplies. These water supplies freeze completely during winter. In order to supply drinking water during the 6–9 month winter, communities store water that was treated during summer. A chlorine residual is maintained in the stored water. Raw water sources derived from surface water may be heavily laden with dissolved organic matter. At utilities where organic matter escapes treatment, the potential for accumulation of disinfection by-products (DBPs) during storage is a significant health concern. The following study was performed to evaluate this potential threat. Water was collected from five operating utilities, four that normally store water for 6–9 months and one that produces drinking water year-round. Raw, filtered (i.e., unchlorinated) and “finished” (i.e., filtered and chlorinated) water samples were collected during the summer pumping season and stored in the laboratory for 8 months. In order to mimic practice in the field, the chlorine residual was maintained in the finished water for the full storage period. While the concentration of DBPs in the finished water varied over the study period, there was not a statistically significant trend from the third to the eighth month of storage. The observed DBP values were strongly a function of the type of treatment system used. Those systems passing more organic matter had higher DBP values throughout the storage period. The ultraviolet absorbance at 254 nanometers ?start(UV254)end? decreased continuously in the finished water coincident with chlorine consumption. ?startUV254end?, often used as a surrogate for DBPs, remained constant during the entire storage periodin raw and filtered water samples. Filtered water that was stored prior to chlorination accumulated fewer DBPs than finished water that was continuously chlorinated during the storage period. This result suggests that storing filtered water instead of finished water for long periods would limit DBP exposure to consumers. This conclusion was based on a comparison of DBP formation potentials (i.e., raw and filtered water) to DBPs (i.e., finished water). It is important to note that DBP formation potentials are based on a ?start24?hend?chlorine contact time. If long term storage were provided for filtered water, a smaller volume of secondary storage would still be needed to provide contact time for disinfection. 相似文献
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Wegner GJ Wark AW Lee HJ Codner E Saeki T Fang S Corn RM 《Analytical chemistry》2004,76(19):5677-5684
The kinetics of protein adsorption/desorption onto peptide microarrays was studied using real-time surface plasmon resonance (SPR) imaging. S protein binding interactions were examined using an array composed of five different peptides: N terminal and C terminal immobilized wild-type S peptide (S1 and S2), an alternate binding sequence derived by phage display (LB2), an NVOC-protected S peptide, and a FLAG peptide control sequence (F). Kinetic measurements of the S protein-S1 peptide interaction were analyzed to determine a desorption rate constant (k(d)) of 1.1 (+/-0.08) x 10(-2) s(-1), an adsorption rate constant (k(a)) of 1.9 (+/-0.05) x 10(5) M(-1) s(-1), and an equilibrium adsorption constant (K(Ads)) of 1.7 (+/-0.08) x 10(7) M(-1). SPR imaging equilibrium measurements of S protein to S1 peptide were performed to independently confirm the kinetically determined value of K(Ads). Rate constants for the S2 and LB2 peptides on the array were measured as follows: 1.6 (+/-0.04) x 10(5) M(-1) s(-1) (k(a)) and 1.1 (+/-0.07) x 10(-2) s(-1) (k(d)) for S2, 1.2 (+/-0.05) x 10(5) M(-1) s(-1) (k(a)) and 1.1 (+/-0.03) x 10(-2) s(-1) (k(d)) for LB2. In addition to S protein adsorption/desorption, real-time SPR imaging of peptide arrays was applied to study the surface enzymatic activities of the protease factor Xa. Enzymatic cleavage of the substrate peptide (P1) was shown to follow first-order kinetics and proceed at a rate 10 times faster than that of the mutant peptide (P2), with cleavage velocities of 5.6 (+/-0.3) x 10(-4) s(-1) for P1 and 5.7 (+/-0.3) x 10(-5) s(-1) for P2. 相似文献
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There are differences in the extent to which patient and therapist agree on psychotherapy goals and work together in the helping relationship. This article reviews the empirical research on the relation between psychotherapy outcome and patient-therapist goal consensus and collaboration. Research results suggest that psychotherapy outcome is enhanced when agreement on therapeutic goals and collaborative involvement (often assessed by patient cooperation, role involvement, and homework compliance) are present during the course of therapy. When therapists and patients demonstrate cooperative and affiliative behavior, and when patients are actively involved in the patient role, better outcomes can be expected. We discuss therapeutic practices based on these findings, emphasizing the involvement of therapist and patient in a process of shared decision-making where goals are frequently discussed and agreed upon. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献