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Search results for: BRCA1 GENE MUTATIONS
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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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Elevated level of 8‐oxo‐7,8‐dihydro‐2′‐deoxyguanosine in leukocytes of BRCA1 mutation carriers compared to healthy controls
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Isolation of the GFA1 gene encoding glucosamine-6-phosphate synthase of Sporothrix schenckii and its expression in Saccharomyces cerevisiae
PublicationGlucosamine-6-phosphate synthase (GlcN-6-P synthase) is an essential enzyme involved in cell wall biogenesis that has been proposed as a strategic target for antifungal chemotherapy. Here we describe the cloning and functional characterization of Sporothrix schenckii GFA1 gene which was isolated from a genomic library of the fungus. The gene encodes a predicted protein of 708 amino acids that is homologous to GlcN-6-P synthases...
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Distant Non-Obvious Mutations Influence the Activity of a Hyperthermophilic Pyrococcus furiosus Phosphoglucose Isomerase
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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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Virulence gene profiles in Staphylococcus aureus isolated from cows with subclinical mastitis in eastern Poland
PublicationStaphylococcus aureus is arguably the most important pathogen involved in bovine mastitis. The aim of this study was to determine the virulence gene profiles of 124 Staph. aureus isolates from subclinical mastitis in cows in eastern Poland. The presence of 30 virulence genes encoding adhesins, proteases and superantigenic toxins was investigated by PCR. The 17 different combinations of adhesin genes were identified. Occurrence...
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Transcriptomic responses to wounding: meta-analysis of gene expression microarray data
PublicationBackground A vast amount of microarray data on transcriptomic response to injury has been collected so far. We designed the analysis in order to identify the genes displaying significant changes in expression after wounding in different organisms and tissues. This meta-analysis is the first study to compare gene expression profiles in response to wounding in as different tissues as heart, liver, skin, bones, and spinal cord, and...
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BRCA1 Loss Preexisting in Small Subpopulations of Prostate Cancer Is Associated with Advanced Disease and Metastatic Spread to Lymph Nodes and Peripheral Blood
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THE GENE CLONING, OVEREXPRESSION, PURIFICATION AND BIOCHEMICAL CHARACTERISATION OF A NEW COLD-ADAPTED β–GALACTOSIDASE FROM ARTHROBACTER SP. VII-4
PublicationINTRODUCTION. β-Galactosidase [EC 3.2.1.23] is an enzyme that catalyzes the hydrolysis of O-glycosidic linkages in galactosides. It is commercially used in dairy industry for the production of milk with reduced lactose content. Potentially, the best method for lactose removal under cooling conditions should be carried out with a cold-adapted enzyme. AIM. The aim of this study was to determine the taxonomic affiliation of the isolate...
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A novel method of Mycobacterium tuberculosis complex strain differentiation using polymorphic GC-rich gene sequences.
PublicationTuberculosis is one of the leading infectious diseases. In this work, a new genotyping method of Mycobacterium tuberculosis (Mtb) complex strain is presented. 27 Mtb genomes were analyzed for the presence of length polymorphism within polymorphic GC-rich gene sequences. Four genes, Rv3345c, Rv3507, Rv0747 and Rv3511, showing variation in length depending on the Mtb strain were selected for designing primer sequences flanking variable...
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Beyond Antioxidant Activity: Redox Properties of Catechins May Affect Changes in the DNA Methylation Profile—The Example of SRXN1 Gene
PublicationThe role of catechins in the epigenetic regulation of gene expression has been widely studied; however, if and how this phenomenon relates to the redox properties of these polyphenols remains unknown. Our earlier study demonstrated that exposure of the human colon adenocarcinoma HT29 cell line to these antioxidants affects the expression of redox-related genes. In particular, treatment with (−)-epigallocatechin (EGC) downregulated...
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B-GALACTOSIDASE ARTHROBACTER SP. 32cB - OBTAINING THE GENE SEQUENCE, CONSTRUCTION OF THE EXPRESSION SYSTEM, BIOSYNTHESIS AND BIOCHEMICAL CHARACTERIZATION OF THE ENZYME
PublicationINTRODUCTION: β-Galactosidase is an enzyme which catalyzes the hydrolysis of O glycosidic bond in β-galactosides. Another activity of β galactosidase is a transglycosylation activity. The main industrial use of this protein is the hydrolysis of lactose in milk in a cooling conditions. Synthesis of galactooligosaccharides, which are mostly used as a prebiotics added to some foods or available as dietary supplements, is only one...
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Coexistence of HFE and rare UGT1A1 genes mutations in patients with iron overload related liver injury
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5-formylcytosine and 5-hydroxymethyluracil as surrogate markers of TET2 and SF3B1 mutations in myelodysplastic syndrome, respectively
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations
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Kras mutations and PU.1 promoter methylation are new pathways in murine radiation-induced AML
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Testing for NRAS Mutations in Serous Borderline Ovarian Tumors and Low-Grade Serous Ovarian Carcinomas
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Pronounced cytostatic activity and bystander effect of a novel series of fluorescent tricyclic acyclovir and ganciclovir derivatives in herpes simplex virus thymidine kinase gene-transduced tumor cell lines
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A novel cold-active beta-D-galactosidase from the Paracoccus sp. 32d - gene cloning, purification and characterization
PublicationBeta-D-galactosidase (EC 3.2.1.23) catalyze the hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides. Cold-active beta-D-galactosidases have recently become a focus of attention of researchers and dairy product manufactures owing to theirs ability to: (I) eliminate of lactose from refrigerated milk for people afflicted with lactose intolerance, (II) convert lactose to glucose and galactose which...
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Osteoprotegerin gene polymorphism in diabetic Charcot neuroarthropathy
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Genistein modulates gene activity in psoriatic patients
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Multisine impedimetric probing of biocatalytic reactions for label-free detection of DEFB1 gene: How to verify that your dog is not human?
PublicationAlbert is a dog (Canis familiaris), but he does not realize this. Albert loves human food (and beer), watching movies on the internet, sleeping in bed, and more. But he should not do all these things. To convince him that, we have desinged a test procedure. The DEFB1 gene is unique to human species. Detecting its presence from saliva and in short periods may offer an advantage in the field of forensic medicine, and influence Albert’s...
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Characterization of immobilized Escherichia coli cells transformed by β-galactosidase gene from Pyrococcus woesei
PublicationThermostable β-galactosidase from Escherichia coli transformant containing theenzyme gene from Pyrococcus woesei was immobilized on alginate gel.The benefits of using whole bacterial cells not only exclude expensive, laborious proteinisolation and purification but also stabilize enzymes by cytosol components. Increase inproductivity of enzyme can be achieved by cells permeabilization. To increase permeability ofcytoplasmic membrane...
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A new cold-active β-galactosidase from Arthrobacter sp. S3* - gene cloning, overexpression, purification and properties
PublicationA psychrotrophic bacterium producing a cold-active β-galactosidase was isolated from Spitsbergen soil and classified as Arthrobacter sp. S3*. The gene encoding β-galactosidase was isolated from the genomic DNA library, sequenced, cloned, expressed in Escherichia coli, purified by ion exchange chromatography and characterized. The Arthrobaster sp. S3* β-galactosidase is a homotrimeric enzyme composed of 74,4 kDa subunits. It is...
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Insights into the Effects of Cancer Associated Mutations at the UPF2 and ATP-Binding Sites of NMD Master Regulator: UPF1
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
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Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent <i>CARD11</i> mutations
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NADPH Oxidase Gene Polymorphism is Associated with Mortality and Cardiovascular Events in 7-Year Follow-Up
PublicationThe CYBA gene encodes the regulatory subunit of NADPH oxidase, which maintains the redox state within cells and in the blood vessels. That led us to investigate the course of coronary artery disease (CAD) with regards to CYBA polymorphisms. Thus, we recruited 1197 subjects with coronary atherosclerosis and observed them during 7-year follow-up. Three CYBA polymorphisms: c.214C>T (rs4673), c.-932G>A (rs9932581), and c.*24G>A (1049255)...
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Untargeted Lipidomics Analysis of the Cyanobacterium Synechocystis sp. PCC 6803: Lipid Composition Variation in Response to Alternative Cultivation Setups and to Gene Deletion
PublicationCyanobacteria play an important role in several ecological environments, and they are widely accepted to be the ancestors of chloroplasts in modern plants and green algae. Cyanobacteria have become attractive models for metabolic engineering, with the goal of exploring them as microbial cell factories. However, the study of cyanobacterial lipids’ composition and variation, and the assessment of the lipids’ functional and structural...
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Gene copy numbers of HER family in breast cancer
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Estrogen Receptor 2 Gene Polymorphism in Idiopathic Scoliosis
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CHD7 gene polymorphisms in female patients with idiopathic scoliosis
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Cognitive decline in Huntington's disease expansion gene carriers
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Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility
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Gene-based identification of bacterial colonies with an electric chip
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A new assay based on terminal restriction fragment length polymorphism of homocitrate synthase gene fragments for Candida species identification
PublicationCandida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species specific differentiation of the Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new application of terminal restriction fragment length polymorphism (t-RFLP) method in molecular identification...
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Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland
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Delay induced oscillations in gene expression of Hes1 protein model
PublicationW pracy został omówiony model produkcji białka Hes1. Stężenie Hes1 jest kontrolowane przez ujemne sprzężenie zwrotne wbudowane w białko i jego mRNA. Przeprowadzona analiza potwierdziła znane wyniki numeryczne, że oscylacje wywołane są przez opóźnienie. Pokazaliśmy również, że jeśli współczynnik Hilla jest większy niż 1, to istnieje krytyczna wartość opóźnienia, dla której ma miejsce bifurkacja Hopfa i pojawiają się rozwiązania...
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Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene
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Reproducibility of Finding Enriched Gene Sets in Biological Data Analysis
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Ranking metrics in gene set enrichment analysis: do they matter?
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Newborn screening and gene therapy in SMA: Challenges related to vaccinations
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Vitamin D receptor gene polymorphisms in Alzheimer's disease patients
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Beta-2 adrenoreceptor gene polymorphisms and sympathetic outflow in humans
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Amplification of erbB-4 oncogene occurs less frequently than that of erbB-2 in primary human breast cancer1Published in conjunction with A Wisconsin Gathering Honoring Waclaw Szybalski on the occasion of his 75th year and 20 years of Editorship-in-Chief of Gene, 10–11 August, 1997, University of Wisconsin, Madison, WI, USA.1
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Analysis of Mitochondrial Genome from Labrador (Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms
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Identyfikacja i izolacja genu kodującego zaadaptowaną do zimna β-galaktozydazę Paracoccus sp. = Identification and izolation of the gene encoding cold-active β-galactosidase from paracoccus sp.
PublicationZaprezentowane badania były prowadzone u eehi wyizolowania ze środo¬wiska organizmu psychrofilnego, zdolnego do hydrolizy laktozy w niskiej tempe¬raturze, oraz zidentyfikowania genu kodującego (i-galaktozydazę zaadaptowaną do zimna.Poszukiwan gen został w izolowany z psychrofilnego szczepu autarkicz¬nego Paracoccus sp. 321). Na podstawie sekwencji nukleotydowej genu kodują¬cego fS-galaktozdaze ustalono skład aminokwasów),...
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European Multicenter Evaluation of High-Density DNA Probe Arrays for Detection of Hepatitis B Virus Resistance Mutations and Identification of Genotypes
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Glucosylceramide Mimics: Highly Potent GCase Inhibitors and Selective Pharmacological Chaperones for Mutations Associated with Types 1 and 2 Gaucher Disease
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K-ras gene mutation as an early prognostic marker of colon cancer
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