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Search results for: MUTATION DETECTION
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MutS as a tool for mutation detection.
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MutS as a tool for mutation detection
PublicationArtykuł przeglądowy pokazujący różne możliwości zastosowania różnych form białka MutS Thermus thermophilus do wykrywania mutacji punktowych.
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One tube mutation detection using sensitive fluorescent dyeing of MutS protected DNA
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How to support patients with BRCA genetic mutation? Research review.
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ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia
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An inherited NBN mutation is associated with poor prognosis prostate cancer
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New, fast and cheap prediction tests for BRCA1 gene mutations identification in clinical samples.
PublicationDespite significant progress in cancer therapy, cancer is still the second cause of mortality in the world. The necessity to make quick therapeutic decisions forces the development of procedures allowing to obtain a reliable result in a quick and unambiguous manner. Currently, detecting predictive mutations, including BRCA1, is the basis for effectively treating advanced breast cancer. Here, we present new insight on gene mutation...
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K-ras gene mutation as an early prognostic marker of colon cancer
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A common nonsense mutation of the BLM gene and prostate cancer risk and survival
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Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL
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Plasma micronutrients, trace elements, and breast cancer in BRCA1 mutation carriers: an exploratory study
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Glioma cells showing IDH1 mutation cannot be propagated in standard cell culture conditions
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Potential of Liquid Biopsy in Papillary Thyroid Carcinoma in Context of miRNA, BRAF and p53 Mutation
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A Single Mutation in a Tunnel to the Active Site Changes the Mechanism and Kinetics of Product Release in Haloalkane Dehalogenase LinB*
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Up-regulation of ferritin ubiquitination in skeletal muscle of transgenic rats bearing the G93A hmSOD1 gene mutation
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Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation
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Suppressors of lapC mutation identify new regulators of LpxC, which mediates the first committed step in lipopolysaccharide biosynthesis
PublicationGram-negative bacteria, such as Escherichia coli, are characterized by an asymmetric outer membrane (OM) with lipopolysaccharide (LPS) located in the outer leaflet and phospholipids facing the inner leaflet. E. coli recruits LPS assembly proteins LapB, LapC and LapD in concert with FtsH protease to ensure a balanced biosynthesis of LPS and phospholipids. We recently reported that bacteria either lacking the periplasmic domain of...
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Elevated level of 8‐oxo‐7,8‐dihydro‐2′‐deoxyguanosine in leukocytes of BRCA1 mutation carriers compared to healthy controls
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KRAS mutation testing in borderline ovarian tumors and low-grade ovarian carcinomas with a rapid, fully integrated molecular diagnostic system
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Determination of BRAF V600E (VE1) protein expression and BRAF gene mutation status in codon 600 in borderline and low-grade ovarian cancers
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The Arctic mutation alters helix length and type in the 11–28 β-amyloid peptide monomer—CD, NMR and MD studies in an SDS micelle
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Diving boldly into COVID‐19 contaminated wastewater: Eyes at nanotechnology‐assisted solutions
PublicationSeveral studies have been directed to find scalable, swift, accurate, and cost-effective strategies for detecting, monitoring, and treating coronavirus disease 2019 (COVID-19). Indeed, the lack of a fast and practical method for detecting the infected regions makes decision-making challenging to combat the critical pandemic-struck situations. The probable ‘wrong’, or rather inadequate, decisions not only have a boomerang effect...
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Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer’s Disease Case
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Real-Time PCR: molecular technique of many applications
PublicationReal-Time PCR is a sensitive DNA amplification technique initially applied in genetics and molecular biology. It enables in vivo copying of the selected DNA fragment (flanked by two primers) by the thermostable polymerase (in the presence of magnesium ions and deoxynucleotide triphosphates) and simultaneous measurement of the fluorescence. For one or more specific sequences in a DNA sample, real-time PCR enables both detection...
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Relation of the polymorphism of cyp51A sequence and the susceptibility of Aspergillus fumigatus isolates to triazoles determined by commercial gradient test (Etest) and by reference methods
PublicationThe aim of this study was to evaluate the accuracy of commercial gradient test (Etest) in the detection of triazole resistant Aspergillus fumigatus isolates using reference microdilution methods and the analysis of sequences of the cyp 51A gene. The study was performed on twenty clinical isolates which were identified as Aspergillus fumigatus based on the DNA sequences of the ITS1-2 fragment of ribosomal DNA and the β-tubulin gene,...
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Preliminary studies on DNA retardation by MutS applied to the detection of point mutations in clinical samples
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Higher responsiveness to rosuvastatin in polygenic versus monogenic hypercholesterolaemia: a propensity score analysis
PublicationBackground The underlying monogenic defect in familial hypercholesterolemia (FH) can be detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C) due to having inherited a greater than average number of common LDL-C raising single nucleotide polymorphisms (SNPs). Purpose We sought to investigate, whether the monogenic or polygenic defect in FH is associated with...
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Regulation of the First Committed Step in Lipopolysaccharide Biosynthesis Catalyzed by LpxC Requires the Essential Protein LapC (YejM) and HslVU Protease
PublicationWe previously showed that lipopolysaccharide (LPS) assembly requires the essential LapB protein to regulate FtsH-mediated proteolysis of LpxC protein that catalyzes the first committed step in the LPS synthesis. To further understand the essential function of LapB and its role in LpxC turnover, multicopy suppressors of ΔlapB revealed that overproduction of HslV protease subunit prevents its lethality by proteolytic degradation...
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Multi-objective Tabu-based Differential Evolution for Teleportation of Smart Virtual Machines in Private Computing Clouds
PublicationWe propose a multi-objective approach for using differential evolution algorithm with tabu search algorithm as an additional mutation for live migration (teleportation) of virtual machines. This issue is crucial in private computing clouds. Teleportation of virtual machines is supposed to be planned to determine Pareto-optimal solutions for several criteria such as workload of the bottleneck host, communication capacity of the...
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Mapping the Transglycosylation Relevant Sites of Cold-Adapted β-D-Galactosidase from Arthrobacter sp. 32cB
PublicationB-Galactosidase from Arthrobacter sp. 32cB (ArthbetaDG) is a cold-adapted enzyme able to catalyze hydrolysis of beta-D-galactosides and transglycosylation reaction, where galactosyl moiety is being transferred onto an acceptor larger than a water molecule. Mutants of ArthbetaDG D207A and E517Q were designed to determine the significance of specific residues and to enable formation of complexes with lactulose and sucrose and to...
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An optimal sliding mode control based on immune-wavelet algorithm for underwater robotic manipulator
PublicationIn this paper, a robust optimal Sliding Mode Controller (SMC) based on new algorithm of Artificial Immune System (AIS) is proposed for trajectory tracking of underwater manipulators. A new AIS algorithm is used to derive optimal values of surface parameters and boundary layer thickness in SMC with considering minimum torques and error. Surface parameters and boundary layer thickness are considered as antibody in AIS and Morlet...
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Early Stages of RNA-Mediated Conversion of Human Prions
PublicationPrion diseases are characterized by the conversion of prion proteins from a PrPC fold into a disease-causing PrPSC form that is self-replicating. A possible agent to trigger this conversion is polyadenosine RNA, but both mechanism and pathways of the conversion are poorly understood. Using coarse-grained molecular dynamic simulations we study the time evolution of PrPC over 600 μs. We find that both the D178N mutation and interacting...
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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis
PublicationBackground: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. Methods: FH Individuals were tested for mutations in LDLR and APOB genes. A previously established LDL-C-specific...
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Activity of isavuconazole and other triazole derivatives against clinical isolates of Aspergillus fumigatus
PublicationAspergillus fumigatus is the most frequent pathogen of the genus Asperillus, which is highly susceptible to triazole derivatives, especially to isavuconazole and voriconazole. Many countries face a growing problem of infections due to A. fumigatus showing acquired resistance to one or several triazoles. In medical centres, monitoring the susceptibility of isolated Aspergillus spp. is recommended. The aim of this study was to collect...
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Low frequency of itraconazole resistance found among avian Aspergillus fumigatus isolates
PublicationAspergillus fumigatus is the most frequent etiological factor of invasive aspergillosis in human as well as animals, including birds. Aspergillosis caused by drug-resistant strains poses a significant therapeutic issue, especially if resistance pattern includes insensitivity to triazoles, i.e. drugs recommended for the primary therapy purposes. Majority of resistant isolates hold the TR34/L98H...
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Comparison of reproduction strategies in genetic algorithm approach to graph searching
Publicationgenetic algorithms (ga) are a well-known tool used to obtain approximate solutions to optimization problems. successful application of genetic algorithm in solving given problem is largely dependant on selecting appropriate genetic operators. selection, mutation and crossover techniques play a fundamental role in both time needed to obtain results and their accuracy. in this paper we focus on applying genetic algorithms in calculating...
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Evolution of artificial single-cell organisms foraging for resources in a 3-dimensional environment
PublicationForaging for resources is a simple cognitive task that even one-celled biological organisms can ac- complish. We present an Artificial Life system in which artificial unicellular organisms (animats) forage for food in a 3-dimensional simulated liquid environment. The movement of animats is controlled by evolving artificial gene regulatory networks encoded in linear genomes. When an animat consumes enough food, it produces offspring...
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Linezolid-resistant Enterococcus faecium strains isolated from one hospital in Poland –commensals or hospital-adapted pathogens?
PublicationOne of the most pressing problems of enterococci infections is occurring resistance to linezolid, which is an antibiotic used in the treatment of infections caused by vancomycin-resistant strains (VRE). The main objective of our research was to investigate the relationship of 19 linezolid-resistant E. faecium isolates from 18 patients hospitalized at Clinical Hospital in Gdansk (Poland). One of the LZDREF was isolated in 2003...
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Phosphorylation‐mediated regulation of heat shock response in Escherichia coli
PublicationEscherichia coli has two heat shock regulons under the transcriptional control of Esigma(32) and Esigma(E) RNA polymerases. These polymerases control the expression of genes, the products of which are needed for correct folding of proteins in the cytoplasm and the extracytoplasm respectively. In this study, we report that mutations in a tyrosine phosphatase-encoding gene led to decreased activity of these heat shock regulons. The...
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Examination of cyp51A and cyp51B expression level of the first Polish azole resistant clinical Aspergillus fumigatus isolate
PublicationAspergillus fumigatus is one of the most prevalent airborne fungal pathogens causing infections worldwide. Most A. fumigatus strains are susceptible to azoles, which are administered as the first line therapeutics. However, during last decade the acquired resistance to triazoles by these species has been described. There is a number of publications concerning the examination of clinical A. fumigatus strains from different countries,...
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COVID‐19: A systematic review and update on prevention, diagnosis, and treatment
PublicationSince the rapid onset of the COVID-19 or SARS-CoV-2 pandemic in the world in 2019, extensive studies have been conducted to unveil the behavior and emission pattern of the virus in order to determine the best ways to diagnosis of virus and thereof formulate effective drugs or vaccines to combat the disease. The emergence of novel diagnostic and therapeutic techniques considering the multiplicity of reports from one side and contradictions...
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Comprehensive Evaluation of the Biological Properties of Surface-Modified Titanium Alloy Implants
PublicationAn increasing interest in the fabrication of implants made of titanium and its alloys results from their capacity to be integrated into the bone system. This integration is facilitated by different modifications of the implant surface. Here, we assessed the bioactivity of amorphous titania nanoporous and nanotubular coatings (TNTs), produced by electrochemical oxidation of Ti6Al4V orthopedic implants’ surface. The chemical composition...
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Two small RNAs conserved in Enterobacteriaceae provide intrinsic resistance to antibiotics targeting the cell wall biosynthesis enzyme glucosamine-6-phosphate synthase
PublicationFormation of glucosamine-6-phosphate GlcN6P) by enzyme GlcN6P synthase (GlmS) represents the first step in bacterial cell envelope synthesis. In Escherichia coli, expression of glmS is controlled by small RNAs (sRNAs) GlmY and GlmZ. GlmZ activates the glmS mRNA by base-pairing. When not required, GlmZ is bound by adapter protein RapZ and recruited to cleavage by RNase E inactivating the sRNA. The homologous sRNA GlmY activates...
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Suspended-sediment transport related to ice-cover conditions during cold and warm winters, Toudaoguai stretch of the Yellow River, Inner Mongolia, China
PublicationThe presence of winter ice in cold regions changes the water level, flow rate, velocity distribution, and other parameters of the river, which in turn affects the sediment concentration and channel evolution. Based on data obtained from Toudaoguai Hydrological Station from 1959 to 2021, this study examines the characteristics of the ice regime during cold and warm winters and the water and sediment transport processes along the...
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Regulation of LPS assembly via controlled proteolysis and sensing of LPS stress in Escherichia coli
PublicationLipopolysaccharide (LPS) is a complex glycolipid, essential for the bacterial viability and along with phospholipids, it constitutes the major amphiphilic component of outer membrane (OM) in most of the Gram-negative bacteria, including Escherichia coli. LPS molecules confer an effective permeability barrier to the OM and play a crucial role in bacteria-environment and -host interactions. The synthesis and accumulation of this...
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Virulence, antifungal susceptibility and molecular mechanisms of echinocandin resistance among Candida isolates recovered from clinical specimens
PublicationFungi of the genus Candida belong to the natural microflora of healthy individuals. However, they can also be a cause of opportunistic infections especially among patients with an impaired immune system. The first line therapy of Candida infections is based on triazoles. However, in recent years there an increase of azole resistant Candida spp., in particular C. glabrata and C. krusei, has been observed. For this reason, echinocandin...
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Genome-Wide DNA Methylation and Gene Expression in Patients with Indolent Systemic Mastocytosis
PublicationMastocytosis is a clinically heterogenous, usually acquired disease of the mast cells with a survival time that depends on the time of onset. It ranges from skin-limited to systemic disease, including indolent and more aggressive variants. The presence of the oncogenic KIT p. D816V gene somatic mutation is a crucial element in the pathogenesis. However, further epigenetic regulation may also affect the expression of genes that...
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Zastosowanie immobilizowanego białka MutS do wychwytywania fragmentów DNA zawierających niesparowane zasady
PublicationBiałko MutS wiąże DNA zawierające błędnie sparowane oraz niesparowane zasady w DNA. Podjęto szereg prób wykorzystania tego białka jako narzędzia do detekcji nieznanych mutacji lub zagęszczania frakcji DNA z niesparowaną zasadą. Dotychczas żadna z metod oparta na użyciu białka MutS nie została wdrożona powszechnie do praktyki laboratoryjnej. Głównym powodem takiego stanu rzeczy jest stosunkowo silne powinowactwo MutS do DNA w pełni...