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1.
Vita etraj
i
Drago Ksenija Strojnik Gaper Klan
ar Petra kerl Vida Stegel Ana Blatnik Marta Banjac Mateja Krajc Srdjan Novakovi 《International journal of molecular sciences》2022,23(13)
Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS detected in 732 consecutive patients tested in the routine genetic counseling process. Twelve VUS that were predicted to cause splicing defects were selected for mRNA analysis. Here, we report a functional characterization of 12 variants located beyond the first two intronic nucleotides using RNAseq in APC, ATM, FH, LZTR1, MSH6, PALB2, RAD51C, and TP53 genes. Based on the analysis of mRNA, we have successfully reclassified 50% of investigated variants. 25% of variants were downgraded to likely benign, whereas 25% were upgraded to likely pathogenic leading to improved clinical management of the patient and the family members. 相似文献
2.
Ivan Kreft Mateja Germ Aleksandra Golob Blanka Vombergar Francesco Bonafaccia Zlata Luthar 《International journal of molecular sciences》2022,23(7)
Tartary buckwheat (Fagopyrum tataricum Gaertn.) is grown in eastern and central Asia (the Himalayan regions of China, Nepal, Bhutan and India) and in central and eastern Europe (Luxemburg, Germany, Slovenia and Bosnia and Herzegovina). It is known for its high concentration of rutin and other phenolic metabolites. Besides the grain, the other aboveground parts of Tartary buckwheat contain rutin as well. After the mixing of the milled buckwheat products with water, the flavonoid quercetin is obtained in the flour–water mixture, a result of rutin degradation by rutinosidase. Heating by hot water or steam inactivates the rutin-degrading enzymes in buckwheat flour and dough. The low buckwheat protein digestibility is due to the high content of phenolic substances. Phenolic compounds have low absorption after food intake, so, after ingestion, they remain for some time in the gastrointestinal tract. They can act in an inhibitory manner on enzymes, degrading proteins and other food constituents. In common and Tartary buckwheat, the rutin and quercetin complexation with protein and starch molecules has an impact on the in vitro digestibility and the appearance of resistant starch and slowly digestible proteins. Slowly digestible starch and proteins are important for the functional and health-promoting properties of buckwheat products. 相似文献
3.
Mateja Naglič Andrej Šmidovnik Tine Koloini 《Journal of the American Oil Chemists' Society》1998,75(5):629-633
Catalytic transfer hydrogenation of corn, peanut, olive, soybean, and sunflower oils has been studied with aqueous sodium
formate solution as hydrogen donor and palladium on carbon as catalyst. Kinetic constants and selectivity have been determined
under intensive stirring in the presence of stabilizing agents. Hydrogenation reactions followed first-order kinetics with
respect to fatty acids. Besides good selectivity and short reaction time, this method offers safe and easy handling. The presence
of linolenic acid retards the migration of double bonds, which explains why soybean oil is the most appropriate for this hydrogenation
process. 相似文献
4.
Phenolics are an important constituent of fruit quality because of their contribution to the taste, colour and nutritional properties of fruit. We have tried to evaluate the phenolic profile of fig fruit, since only limited information on that topic is available in the literature. With the HPLC-PDA system, we have identified the following phenolics: gallic acid, chlorogenic acid, syringic acid, (+)-catechin, (−)-epicatechin and rutin. Phenolics were extracted from three different fig cultivars that are commonly grown in Slovenia’s coastal region. These cultivars were ‘Škofjotka’ (‘Zuccherina’) a white type fruit, ‘?rna petrovka’ and ‘Miljska figa’, both dark type fruit. The fruit from the first and the second crop were collected and compared. In general, fruit from the second crop contained higher values of phenolics than fruit from the first crop. The analysed phenolics present at the highest content were rutin (up to 28.7 mg per 100 g FW), followed by (+)-catechin (up to 4.03 mg per 100 g FW), chlorogenic acid (up to 1.71 mg per 100 g FW), (−)-epicatechin (up to 0.97 mg per 100 g FW), gallic acid (up to 0.38 mg per 100 g FW) and, finally, syringic acid (up to 0.10 mg per 100 g FW). Both cultivars with dark fruit exhibited a higher total level of analysed phenolics, in comparison to the white fruit cultivar ‘Škofjotka’. The amounts measured are comparable to those of other fruits grown in this region. The amounts of rutin in particular are quite high and comparable to apples, for example. As a typical, seasonal fresh fruit, figs can be an important constituent of the regional diet. 相似文献
5.
Verena B. K. Kunig Dr. Marco Potowski Dr. Mateja Klika Škopić Dr. Andreas Brunschweiger 《ChemMedChem》2021,16(7):1048-1062
Understanding the ligandability of a target protein, defined as the capability of a protein to bind drug-like compounds on any site, can give important stimuli to drug-development projects. For instance, inhibition of protein–protein interactions usually depends on the identification of protein surface binders. DNA-encoded chemical libraries (DELs) allow scanning of protein surfaces with large chemical space. Encoded library selection screens uncovered several protein–protein interaction inhibitors and compounds binding to the surface of G protein-coupled receptors (GPCRs) and kinases. The protein surface-binding chemotypes from DELs are predominantly chemically modified and cyclized peptides, and functional small-molecule peptidomimetics. Peptoid libraries and structural peptidomimetics have been less studied in the DEL field, hinting at hitherto less populated chemical space and suggesting alternative library designs. Roughly a third of bioactive molecules evolved from smaller, target-focused libraries. They showcase the potential of encoded libraries to identify more potent molecules from weak, for example, fragment-like, starting points. 相似文献
6.
Mateja Mikul
i Nassim Ghaffari Tabrizi-Wizsy Eva M. Bernhart Martin Asslaber Christopher Trummer Werner Windischhofer Wolfgang Sattler Ernst Malle Andelko Hrzenjak 《International journal of molecular sciences》2021,22(21)
Osteosarcoma (OS) is the most common type of bone tumor, and has limited therapy options. 15-Deoxy-Δ12,14-prostaglandin J2 (15d-PGJ2) has striking anti-tumor effects in various tumors. Here, we investigated molecular mechanisms that mediate anti-tumor effects of 15d-PGJ2 in different OS cell lines. Human U2-OS and Saos-2 cells were treated with 15d-PGJ2 and cell survival was measured by MTT assay. Cell proliferation and motility were investigated by scratch assay, the tumorigenic capacity by colony forming assay. Intracellular ROS was estimated by H2DCFDA. Activation of MAPKs and cytoprotective proteins was detected by immunoblotting. Apoptosis was detected by immunoblotting and Annexin V/PI staining. The ex ovo CAM model was used to study growth capability of grafted 15d-PGJ2-treated OS cells, followed by immunohistochemistry with hematoxylin/eosin and Ki-67. 15d-PGJ2 substantially decreased cell viability, colony formation and wound closure capability of OS cells. Non-malignant human osteoblast was less affected by 15d-PGJ2. 15d-PGJ2 induced rapid intracellular ROS production and time-dependent activation of MAPKs (pERK1/2, pJNK and pp38). Tempol efficiently inhibited 15d-PGJ2-induced ERK1/2 activation, while N-acetylcystein and pyrrolidine dithiocarbamate were less effective. Early but weak activation of cytoprotective proteins was overrun by induction of apoptosis. A structural analogue, 9,10-dihydro-15d-PGJ2, did not show toxic effects in OS cells. In the CAM model, we grafted OS tumors with U2-OS, Saos-2 and MG-63 cells. 15d-PGJ2 treatment resulted in significant growth inhibition, diminished tumor tissue density, and reduced tumor cell proliferation for all cell lines. Our in vitro and CAM data suggest 15d-PGJ2 as a promising natural compound to interfere with OS tumor growth. 相似文献
7.
Problem of high energy use for heating in Slovenian buildings is analyzed with exergy and energy analysis. Results of both are compared and discussed. Three cases of exterior building walls are located in three climatic zones in winter conditions. Results of energy analyses show that the highest heating energy demand appears in the case with less thermal insulation, especially in colder climate. If the comparison is made only on the energy supply and exergy supply, the results of exergy analysis are the same as those of energy analysis. The main difference appears, if the whole chain of supply and demand is taken into consideration. Exergy calculations enable us to analyze how much exergy is consumed in which part, from boiler to building envelope. They also reveal how much energy is supplied for the purpose of heating. Results show that insulation has much bigger effect than effect of boiler efficiency. However, the most effective solution is to improve building envelope together with boiler efficiency. Better thermal insulation also makes an important contribution to the improvement of thermal comfort conditions. It causes higher surface temperatures resulting in a larger warm radiant exergy emission rate and consequently better thermal comfort. 相似文献
8.
9.
Calculation of the mercury accumulation in the Idrijca River alluvial plain sediments 总被引:2,自引:0,他引:2
From the historic literature on the Idrija mercury mine, it is evident that part of the smelting and mining waste was dumped into the Idrijca River. This waste was transported downstream during floods. The amount of mercury which has accumulated in the alluvial sediments of the Idrijca River until the present was studied. Mapping of Holocene river terraces of the Idrijca River was performed in order to estimate the volume of the alluvial sediment. For the purpose of the assessment of the mercury concentration, we sampled the alluvial sediments on different levels and performed an analysis of variance. The greatest variability is between the floodplain and terraces inside the same alluvial plain. Considering this fact, which determined the methodology employed for calculation, we estimated that about 2029 tons of mercury is stored in the Idrijca River alluvial sediments. 相似文献
10.
The preservative challenge test is a method used to determine the efficacy of a preservation system in a pharmaceutical or cosmetic formulation. However, such testing is a labor-intensive, repetitive task often requiring days before results can be generated. Several alternatives to traditional colony-count techniques have been developed. A study using pure suspensions of Staphylococcus aureus, Pseudomonas aeruginosa, Escherichia coli, Bacillus subtilis, Candida albicans, and Aspergillus niger showed that the accuracy, repeatability, and linearity of the Pallchek luminometer ATP bioluminescence (ATP-B) system was equivalent to the traditional colony-count method. In any case, the method proved sensitive enough to follow the effect of preservatives on a number of test microorganisms, indicating the applicability of the ATP-B method for preservative screening studies in various pharmaceutical formulations. 相似文献