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Search results for: ROZBICIE GENU
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Regulated assembly of lipopolysaccharide and sensing of its alterations in Escherichia coli
PublicationThis thesis describes mechanism of the regulation of the transcription of the rpoE gene encoding an essential RNA polymerase subunit in Escherichia coli. The RpoE regulates extracytoplasmic stress response regulon and is required to initiate transcription of genes, whose products are involvedin the folding of periplasmic proteins and synthesis and transport of outer membrane components. The transcriptional regulation of the rpoE...
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Anthra[1,2-d][1,2,3]triazine-4,7,12(3H)-triones as a New Class of Antistaphylococcal Agents: Synthesis and Biological Evaluation
PublicationThe development and spread of resistance of human pathogenic bacteria to the action of commonly used antibacterial drugs is one of the key problems in modern medicine. One of the especially dangerous and easily developing antibiotic resistant bacterial species is Staphylococcus aureus. Anthra[1,2-d][1,2,3]triazine-4,7,12(3H)-triones 22–38 have been developed as novel effective antistaphylococcal agents. These compounds have been...
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Triazoloacridone C-1305 impairs XBP1 splicing by acting as a potential IRE1α endoribonuclease inhibitor
PublicationInositol requiring enzyme 1 alpha (IRE1α) is one of three signaling sensors in the unfolding protein response (UPR) that alleviates endoplasmic reticulum (ER) stress in cells and functions to promote cell survival. During conditions of irrevocable stress, proapoptotic gene expression is induced to promote cell death. One of the three signaling stressors, IRE1α is an serine/threonine-protein kinase/endoribonuclease (RNase) that...
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HDAC Inhibitors: Innovative Strategies for Their Design and Applications
PublicationHistone deacetylases (HDACs) are a large family of epigenetic metalloenzymes that are involved in gene transcription and regulation, cell proliferation, differentiation, migration, and death, as well as angiogenesis. Particularly, disorders of the HDACs expression are linked to the development of many types of cancer and neurodegenerative diseases, making them interesting molecular targets for the design of new efficient drugs...
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Polylysine for Skin Regeneration: A Review of Recent Advances and Perspectives
PublicationThere have been several attempts to find promising biomaterials for skin regeneration, among which polylysine (a homopolypeptide) has shown benefits in the regeneration and treatment of skin disorders. This class of biomaterials has shown exceptional abilities due to their macromolecular structure. Polylysine-based biomaterials can not only be used as tissue engineering scaffolds for skin regeneration, but also as drug carriers...
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High pressure studies of Eu2+ and Mn2+ doped NaScSi2O6 clinopyroxenes
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A novel genetic approach to provide differentiated levels of service resilience in IP-MPLS/WDM networks
PublicationThis paper introduces a novel class-based method of survivable routing for connection-oriented IP-MPLS/WDM networks, called MLS-GEN-H. The algorithm is designed to provide differentiated levels of service survivability in order to respond to varying requirements of end-users. It divides the complex problem of survivable routing in IP-MPLS/WDM networks into two subproblems, one for each network layer, which enables finding the...
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Regulacja epigenetyczna a potencjał regeneracyjny ssaków. Badania globalnych profili metylacji w tkankach dorosłej myszy MRL/MpJ i w sercach noworodków myszy C57BL/6J.
PublicationW pracy tej otrzymano genomowe profile metylacji DNA dla dwóch modeli regeneracji u ssaków: (i) dorosłej myszy MRL/MpJ, która jest zdolna do zamykania otworów w małżowinie usznej oraz wykazuje podwyższone zdolności regeneracyjne w wielu innych narządach oraz (ii) sercach noworodków myszy, u których zachodzi regeneracja rozległych uszkodzeń lewej komory serca. Zidentyfikowano szereg odmiennie metylowanych regionów DNA, regionów DMR,...
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Keratinocyte-derived small extracellular vesicles supply antigens for CD1a-resticted T cells and promote their type 2 bias in the context of filaggrin insufficiency
PublicationIntroduction: Exosome-enriched small extracellular vesicles (sEVs) are nanosized organelles known to participate in long distance communication between cells, including in the skin. Atopic dermatitis (AD) is a chronic inflammatory skin disease for which filaggrin (FLG) gene mutations are the strongest genetic risk factor. Filaggrin insufficiency affects multiple cellular function, but it is unclear if sEV-mediated cellular communication...
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Enhanced Charge Storage Mechanism And Long-Term Cycling Stability In Diamondized Titania Nanocomposite Supercapacitors Operating In Aqueous Electrolytes
PublicationThe long cycle life stability jointly with high energy density are limiting broader feasible applications of supercapacitors. The novel diamondized titania nanocomposite supercapacitors deliver high power and energy densities along with high capacitance retention rates. Supercapacitor electrodes were fabricated utilizing a combination of Ti anodization followed by chemical vapor deposition resulting in simultaneous growth of complex...
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Drug-resistant and hospital-associated Enterococcus faecium from wastewater, riverine estuary and anthropogenically impacted marine catchment basin.
PublicationEnterococci, ubiquitous colonizers of humans and other animals, play an increasingly important role in health-care associated infections (HAIs). Acquisition of resistance determinants not only seriously limits available therapeutic options but also increases available gene pool for other species. It is believed that the recent evolution of two clinically relevant species, Enterococcus faecalis and Enterococcus faecium occurred...
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Sequence-dependent structural properties of B-DNA: what have we learned in 40 years?
PublicationThe structure of B-DNA, the physiological form of the DNA molecule, has been a central topic in biology, chemistry and physics. Far from uniform and rigid, the double helix was revealed as a flexible and structurally polymorphic molecule. Conformational changes that lead to local and global changes in the helix geometry are mediated by a complex choreography of base and backbone rearrangements affecting the ability of the B-DNA...
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Poloxamer: A versatile tri-block copolymer for biomedical applications
PublicationPoloxamers, also called Pluronic, belong to a unique class of synthetic tri-block copolymers containing central hydrophobic chains of poly(propylene oxide) sandwiched between two hydrophilic chains of poly(ethylene oxide). Some chemical characteristics of poloxamers such as temperature-dependent self-assembly and thermo-reversible behavior along with biocompatibility and physiochemical properties make poloxamer-based biomaterials...
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Molecularly targeted nanoparticles: an emerging tool for evaluation of expression of the receptor for advanced glycation end products in a murine model of peripheral artery disease
PublicationAbstract Background: Molecular imaging with molecularly targeted probes is a powerful tool for studying the spatio-temporal interactions between complex biological processes. The pivotal role of the receptor for advanced glycation end products (RAGE) in numerous pathological processes, aroused the demand for RAGE targeted imaging in various diseases. In the study, we evaluated the use of a diagnostic imaging agent for RAGE quantification...
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Oporność patogennych drożdżaków z rodzaju Candida na chemoterapeutyki przeciwgrzybowe i nowe sposoby jej przełamywania
PublicationCelem badania było określenie podatności na leki przeciwgrzybowe izolatów Candida od pacjentów z polskich szpitali oraz określenie mechanizmów oporności na nie. Drugim celem było zbadanie aktywności przeciwgrzybowej produktów naturalnych (olejków eterycznych i propolisów pszczelich) i mechanizmów ich działania. Prawie 20% zebranych izolatów wykazało oporność na flukonazol oraz oporność krzyżową na cztery badane azole. Większość...
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Toxoplasma gondii: Enzyme-Linked Immunosorbent Assay using different fragments of recombinant microneme protein 1 (MIC1) for detection of immunoglobulin G antibodies
PublicationTrzy rekombinantowe fragmenty białka antygenowego MIC1 Toxoplasma gondii (r-MIC1ex2, r-MIC1ex34 i r-MIC1) zostały wyprodukowane jako białka fuzyjne (zawierające dwie domeny oligohistydynowe na N- i C-końcu) w komórkach bakteryjnych Escherichia coli. Homogenne preparaty antygenów rekombinantowych otrzymane z zastosowaniem jednoetapowego oczyszczania metodą chromatografii metalopowinowactwa, wykorzystano następnie do immunoidentyfikacji...
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Customizing nano-chitosan for sustainable drug delivery
PublicationChitosan is a natural polymer with acceptable biocompatibility, biodegradability, and mechanical stability; hence, it has been widely appraised for drug and gene delivery applications. However, there has been no comprehensive assessment to tailor-make chitosan cross-linkers of various types and functionalities as well as complex chitosan-based semi- and full-interpenetrating networks for drug delivery systems (DDSs). Herein, various...
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Pathogenesis of psoriasis in the “omic” era. Part III. Metabolic disorders, metabolomics, nutrigenomics in psoriasis
PublicationPsoriasis is a systemic disease that is strictly connected with metabolic disorders (insulin resistance, atherogenic dyslipidemia, arterial hypertension, and cardiovascular diseases). It occurs more often in patients with a more severe course of the disease. Obesity is specially an independent risk factor and it is associated with a worse treatment outcome because of the high inflammatory activity of visceral fatty tissue and...
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Enhanced susceptibility to antifungal oligopeptides in yeast strains overexpressing ABC multidrug efflux pumps
PublicationPorównano podatność na działanie związków przeciwgrzybowych o strukturze oligopeptydowej oraz aminokwasowej szczepów Saccharomyces cerevisiae z usuniętymi genami kodującymi białka oporności wielolekowej oraz transformantów tych szczepów, zawierających geny CDR1, CDR2 lub MDR1, kodujące główne pompy wielolekowe Candida albicans. Rekombinowane szczepy nadprodukujące białka Cdr1p i Cdr2p wykazywały zwiększoną wrażliwość na wszystkie...
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Why Are Left-Handed G-Quadruplexes Scarce?
PublicationG-quadruplexes (G4s) are nucleic acid structures crucial for the regulation of gene expression and genome maintenance. While they hold promise as nanodevice components, achieving desired G4 folds requires understanding the interplay between stability and structural properties, like helicity. Although right-handed G4 structures dominate the experimental data, the molecular basis for this preference over left-handed helicity is unclear....
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Modelowanie matematyczne systemów fizjologicznych i farmakokinetycznych dla wspomagania diagnostyki terapii
PublicationKsiążka jest poświęcona matematycznemu modelowaniu systemów biomedycznych, ze szczególnym uwzględnieniem systemów fizjologicznych i farmakokinetycznych. W tym obszarze bardzo przydatne są metody modelowania kompartmentowego, wykorzystujące opis systemu w kategoriach zmiennych stanu. W tych kategoriach sformułowana jest także teoria filtracji stochastycznej Kalmana. Filtracja stochastyczna stosowana jest do usuwania zakłóceń z sygnału...
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Quality of Cryptocurrency Mining on Previous Generation NVIDIA GTX GPUs
PublicationCurrently, there is a lot of previous generation NVIDIA GTX graphical processing units (GPUs) available on the market, which were ousted from by next-gen RTX units. Due to this fact, numerous fully-operational devices remain underused, which are available at an affordable price. First, this paper presents an analysis of the cryptocurrency market. Next, in this context, the results of research on the performance of NVIDIA graphics...
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Small regulatory bacterial RNAs regulating the envelope stress response
PublicationMost bacteria encode a large repertoire of RNA-based regulatory mechanisms. Recent discoveries have revealed that the expression of many genes is controlled by a plethora of base-pairing noncoding small regulatory RNAs (sRNAs), regulatory RNA-binding proteins and RNA-degrading enzymes. Some of these RNA-based regulated processes respond to stress conditions and are involved in the maintenance of cellular homeostasis. They achieve...
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Molecular dynamics simulations reveal the balance of forces governing the formation of a guanine tetrad—a common structural unit of G-quadruplex DNA
PublicationG-quadruplexes (G4) are nucleic acid conformations of guanine-rich sequences, in which guanines are arranged in the square-planar G-tetrads, stacked on one another. G4 motifs form in vivo and are implicated in regulation of such processes as gene expression and chromosome maintenance. The structure and stability of various G4 topologies were determined experimentally; however, the driving forces for their formation are not fully...
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Aktywność amylolityczna ciałek inkluzyjnych izolowanych z Escherichia coli BL21(DE3)pLysS transformowanej plazmidem pTYB2alfa-Amyl.
PublicationBadania ekspresji rekombinantowej alfa-amylazy izolowanej z Escherichia coli BL21(DE3)pLysS transformowanej plazmidem pTYB2alfa-Amyl wykazały, że około 49 % wytwarzanego enzymu występuje w postaci ciałek inkluzyjnych. Źródłem genu termostabilnej alfa-amylazy był szczep Pyrococcus woesei (DSM 3773). W celu uzyskania aktywnych białek z ciałek inkluzyjnych odwirowane komórki bakterii inkubowano w roztworze CaCl2 i po trawieniu lizozymem...
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Performance assessment of OpenMP constructs and benchmarks using modern compilers and multi-core CPUs
PublicationConsidering ongoing developments of both modern CPUs, especially in the context of increasing numbers of cores, cache memory and architectures as well as compilers there is a constant need for benchmarking representative and frequently run workloads. The key metric is speed-up as the computational power of modern CPUs stems mainly from using multiple cores. In this paper, we show and discuss results from running codes such as:...
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Wirtualny model zbiorników z wodą w sterowniku PLC
PublicationModele obiektów rzeczywistych otrzymuje się na różnorodne sposoby i wykorzystuje w różnorodnych celach. Do badania obiektów automatyki stosuje się najczęściej programy komputerowe, np.: Matlab-Simulink, Scilab, GNU Octave, itp. Można również stosować pamięć operacyjną sterowników [1, 2]. W referacie przedstawiono opis wirtualnego modelu dwóch połączonych zbiorników z wodą w sterowniku PLC. Proste przekształcenia matematyczne pozwalają...
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Comparative Study on Assisted Solvent Extraction Techniques for the Extraction of Biologically Active Compounds from Sideritis raeseri and Sideritis scardica
PublicationThe plants in the Sideritis genus are postulated to exhibit several important medicinal properties due to their unique chemical composition. To isolate the targeted phytochemical compounds, the selection of a suitable extraction method is of primary importance. In this work, a comparative study on the phytochemical profiles of various Sideritis raeseri and Sideritis scardica extracts has been carried out. An untargeted metabolomics...
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The New Klebsiella pneumoniae ST152 Variants with Hypermucoviscous Phenotype Isolated from Renal Transplant Recipients with Asymptomatic Bacteriuria-Genetic Characteristics by WGS.
PublicationKlebsiella pneumoniae (Kp) is one of the most important etiological factors of urinary tract infections in renal transplant (RTx) recipients. We described the antimicrobial susceptibility phenotypes and genomic features of two hypermucoviscous (HM) Kp isolates recovered from RTx recipients with asymptomatic bacteriuria (ABU). Using whole genome sequencing (WGS) data, we showed that the strains belong to the ST152 lineage with the...
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The Many Faces of Enterococcus spp.—Commensal, Probiotic and Opportunistic Pathogen
PublicationEnterococcus spp. are Gram-positive, facultative, anaerobic cocci, which are found in the intestinal flora and, less frequently, in the vagina or mouth. Enterococcus faecalis and Enterococcus faecium are the most common species found in humans. As commensals, enterococci colonize the digestive system and participate in the modulation of the immune system in humans and animals. For many years reference enterococcal strains have...
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Heptaene macrolides biosynthesis by Streptomyces species
PublicationPolyene macrolides are one of the groups of secondary metabolites, generated by microorganisms belonging to the Streptomyces genus. These compounds, containing 3 - 7 conjugated double bonds systems in their molecules exhibit high antifungal activity against a broad spectrum of fungal pathogens with heptaenes demonstrating the highest antifungal potential. At the large extent, efficiency of biosynthesis of these natural products...
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Identification and antimicrobial resistance of Enterococcus spp. isolated from surface water
PublicationIn the study species distributions and antimicrobial resistance profiles were determined among riverine Enterococcus spp. Susceptibility of the isolates was tested against: ampicillin, imipenem, teicoplanin, vancomycin, erythromycin, linezolid, fosfomycin, ciprofloxacin,levofloxacin, moxifloxacin, tetracycline, high levels of gentamicin and streptomycin. The enterococci were detected in all of the analyzed water samples, periodically...
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Chemical Aspects of Biological Activity of Isothiocyanates and Indoles, the Products of Glucosinolate Decomposition
PublicationThere is growing evidence that cancer chemoprevention employing natural, bioactive compounds may halt or at least slow down the different stages of carcinogenesis. A particularly advantageous effect is attributed to derivatives of sulfur-organic phytochemicals, such as glucosinolates (GLs) synthesized mainly in Brassicaceae plant family. GLs are hydrolysed enzymatically to bioactive isothiocyanates (ITC) and indoles, which exhibit strong...
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DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis
PublicationThe human leukocyte antigen (HLA) haplotype DRB1*15:01 is the major risk factor for multiple sclerosis (MS). Here, we find that DRB1*15:01 is hypomethylated and predominantly expressed in monocytes among carriers of DRB1*15:01. A differentially methylated region (DMR) encompassing HLA-DRB1 exon 2 is particularly affected and displays methylation-sensitive regulatory properties in vitro. Causal inference and Mendelian randomization...
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Oxolane Ammonium Salts (Muscarine-Like)—Synthesis and Microbiological Activity
PublicationCommercially available 2-deoxy-D-ribose was used to synthesize the appropriate oxolane derivative—(2R,3S)-2-(hydroxymethyl)oxolan-3-ol—by reduction and dehydration/cyclization in an acidic aqueous solution. Its monotosyl derivative, as a result of the quaternization reaction, allowed us to obtain eight new muscarine-type derivatives containing a quaternary nitrogen atom and a hydroxyl group linked to the oxolane ring. Their structure...
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Tailor-Made Polysaccharides for Biomedical Applications
PublicationPolysaccharides (PSAs) are carbohydrate-based macromolecules widely used in the biomedical field, either in their pure form or in blends/nanocomposites with other materials. The relationship between structure, properties, and functions has inspired scientists to design multifunctional PSAs for various biomedical applications by incorporating unique molecular structures and targeted bulk properties. Multiple strategies, such as...
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Cloning, expression, and purification of a recombinant cold-adapted β-galactosidase from antarctic bacterium Pseudoalteromonas sp. 22b
PublicationAntarktyczny szczep, gram-ujemnych bakterii Pseudoalteromonas sp. 22b, wyizolowanych z przewodu pokarmowego kryla z gatunku Thyssanoessa macrura, jest producentem wewnątrzkomórkowej zimnolubnej beta-galaktozydazy. Białko to jest homotetramerem, w którym każda z jednostek monomeru zbudowana jest z 1028 reszt aminokwasowych. Gen kodujący ten enzym został sklonowany i eksprymowany w komórkach E. coli. Następnie z zastosowaniem procedury...
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Visual TreeCmp : Comprehensive Comparison of Phylogenetic Trees on the Web
Publication1. We present Visual TreeCmp—a package of applications for comparing phylogenetic tree sets. 2. Visual TreeCmp includes a graphical web interface allowing the visualization of compared trees and command line application extended by comparison methods recently proposed in the literature. 3. The phylogenetic tree similarity analysis in Visual TreeCmp can be performed using eighteen metrics, of which 11 are dedicated to rooted trees...
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The DraC usher in Dr fimbriae biogenesis of uropathogenic E. coli Dr+ strains
PublicationBiogeneza fimbrii Dr kodowanych przez operon dra uropatogennych szczepów Escherichia coli (infekcje górnych dróg moczowych) odbywa się na bazie zakonserwowanego systemu sekrecji typu chaperone-usher. Funkcjonowanie powyższego systemu sekrecji opiera się na dwóch komponentach białkowych, periplazmatycznym chaperonie DraB i zewnątrzbłonowym kanale DraC. Białko DraB kontroluje proces składania podjednostek fimbrialnych DraE, natomiast...
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Identification of Substrates of Cytoplasmic Peptidyl-Prolyl Cis/Trans Isomerases and Their Collective Essentiality in Escherichia Coli
PublicationProtein folding often requires molecular chaperones and folding catalysts, such as peptidyl-prolyl cis/trans isomerases (PPIs). The Escherichia coli cytoplasm contains six well-known PPIs, although a requirement of their PPIase activity, the identity of their substrates and relative enzymatic contribution is unknown. Thus, strains lacking all periplasmic and one of the cytoplasmic PPIs were constructed. Measurement of their PPIase...
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A new assay for the simultaneous identification and differentiation of Klebsiella oxytoca strains.
PublicationKlebsiella oxytoca is the second most frequently identified species of Klebsiella isolated from hospitalized patients. Klebsiella spp. is difficult to identify using conventional methods and is often misclassified in clinical microbiology laboratories. K. oxytoca is responsible for an increasing number of multi-resistant infections in hospitals because of insufficient detection and identification. In this study, we propose a new...
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Antibiotic resistance and prevalence of class 1 and 2 integrons in Escherichia coli isolated from two wastewater treatment plants, and their receiving waters (Gulf of Gdansk, Baltic Sea, Poland)
PublicationIn this study, antimicrobial-resistance patterns were analyzed in Escherichia coli isolates from raw (RW) and treated wastewater (TW) of two wastewater treatment plants (WWTPs), their marine outfalls (MOut), and mouth of the Vistula River (VR). Susceptibility of E. coli was tested against different classes of antibiotics. Isolates resistant to at least one antimicrobial agent were PCR tested for the presence of integrons. Ampicillin-resistant...
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Immobilization on magnetic nanoparticles of therecombinant trehalose synthase from Deinococcusgeothermalis
PublicationtIn our study the gene encoding trehalose synthase from Deinococcus geothermalis was cloned and overexpressed inEscherichia coli Rosetta (DE3)pLysS. Wild-type trehalose synthase has been purified from host protein after cell dis-ruption and precipitation at 20% ammonium sulphate saturation. Recombinant trehalose synthase was immobilizedonto glutaraldehyde activated silanized magnetic ferrous-ferric oxide by using covalent binding...
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Changes in Epigenetic Patterns Related to DNA Replication in Vicia faba Root Meristem Cells under Cadmium-Induced Stress Conditions
PublicationExperiments on Vicia faba root meristem cells exposed to 150 µM cadmium chloride (CdCl2) were undertaken to analyse epigenetic changes, mainly with respect to DNA replication stress. Histone modifications examined by means of immunofluorescence labeling included: (1) acetylation of histone H3 on lysine 56 (H3K56Ac), involved in transcription, S phase, and response to DNA damage during DNA biosynthesis; (2) dimethylation of histone...
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Interactions between polyphenolic antioxidants quercetin and naringenin dictate the distinctive redox-related chemical and biological behaviour of their mixtures
PublicationFood synergy concept is suggested to explain observations that isolated antioxidants are less bioactive than real foods containing them. However, mechanisms behind this discrepancy were hardly studied. Here, we demonstrate the profound impact of interactions between two common food flavonoids (individual: aglycones quercetin—Q and naringenin—N− or their glycosides rutin—R and naringin—N+ vs. mixed: QN− and RN+) on their electrochemical...
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Examination of epigenetic inhibitor zebularine in treatment of skin wounds in healthy and diabetic mice
PublicationDNA methyltransferase inhibitor zebularine was proven to induce regeneration in the ear pinna in mice. We utilized a dorsal skin wound model to further evaluate this epigenetic inhibitor in wound healing. Full-thickness excisional wounds were made on the dorsum of 2 and 10-month-old healthy BALB/c and 3 and 8-month-old diabetic (db/db) mice, followed by topical or intraperitoneal zebularine delivery. Depending on the strain, age,...
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Identification and properties of the psychrophilic bacterium Desulfolatea psychrophila single-stranded DNA binding proteins
PublicationTo study the biochemical properties of SSB from Desulfolatea psychrophila (DpsSSB), we have cloned the ssb genes obtained by PCR and have developed Escherichia coli overexpression systems. The gene consists of an open reading frame of 426 nucleotides encoding SSB protein of 142 amino acids with a calculated molecular mass of 15.6 kDa and it is the smallest known bacterial SSB protein indentified to date. The amino-acid sequence...
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The mechanism of overcoming multidrug resistance (MDR) of fungi by amphotericin B and its derivatives
PublicationPrzeprowadzono badania porównawcze w celu określenia aktywności i cytotoksyczności amfoterycyny B (AmB) i jej pochodnych wobec standardowego szczepu S. cerevisiae i jego transformantów zawierających geny C. albicans kodujące białka oporności wielolekowej (MDR) typu ABC i MFS. Pochodne AmB: amid 3-dimetyloaminopropylowy amfoterycyny B oraz ester metylowy N-metylo-N-D-fruktopiranozylo-amfoterycyny B wykazały efekt fungistatyczny...
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Why do G-quadruplexes dimerize through the 5’-ends? Driving forces for G4 DNA dimerization examined in atomic detail
PublicationG-quadruplexes (G4) are secondary structures formed by guanine-rich nucleic acid sequences and shown to exist in living cells where they participate in regulation of gene expression and chromosome maintenance. G-quadruplexes with solvent-exposed guanine tetrads show the tendency to associate together through cofacial stacking, which may be important for packaging of G4-forming sequences and allows for the design of higher-order...
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Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats
PublicationHuntington’s disease (HD) is a hereditary neurodegenerative disorder caused by the extension of the CAG repeats in exon 1 of the HTT gene and is transmitted in a dominant manner. The present study aimed to assess whether patients’ sex, in the context of mutated and normal allele length, contributes to age on onset (AO) of HD. The study population comprised a large cohort of 3723 HD patients from the European Huntington’s Disease...