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Search results for: mutation
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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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An inherited NBN mutation is associated with poor prognosis prostate cancer
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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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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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K-ras gene mutation as an early prognostic marker of colon cancer
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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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Plasma micronutrients, trace elements, and breast cancer in BRCA1 mutation carriers: an exploratory study
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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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MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
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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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Mutation Research - Genetic Toxicology and Environmental Mutagenesis
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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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MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
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HUMAN MUTATION
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Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients
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Enigmatic 5-hydroxymethyluracil: Oxidatively modified base, epigenetic mark or both?
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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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Iron–Sulfur Cluster Biogenesis Chaperones: Evidence for Emergence of Mutational Robustness of a Highly Specific Protein–Protein Interaction
PublicationBiogenesis of iron–sulfur clusters (FeS) is a highly conserved process involving Hsp70 and J-protein chaperones. However, Hsp70 specialization differs among species. In most eukaryotes, including Schizosaccharomyces pombe, FeS biogenesis involves interaction between the J-protein Jac1 and the multifunctional Hsp70 Ssc1. But, in Saccharomyces cerevisiae and closely related species, Jac1 interacts with the specialized Hsp70 Ssq1,...
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Conserved motifs of MutL proteins
PublicationtThe MutL protein is best known for its function in DNA mismatch repair (MMR). However, there isevidence to suggest that MutL is not only the linker connecting the functions of MutS and MutH in MMR,but that it also participates in other repair systems, such as Very Short Patch (VSP), Base Excision (BER)and Nucleotide Excision Repair (NER). This study set out to identify the most highly conserved aminoacid sequence motifs in MutL...
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Bulky DNA adducts in human sperm: relationship with fertility, semen quality, smoking, and environmental factors
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The relationship between 8-oxo-7,8-dihydro-2′-deoxyguanosine level and extent of cytosine methylation in leukocytes DNA of healthy subjects and in patients with colon adenomas and carcinomas
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Oxidative DNA damage in cancer patients: a cause or a consequence of the disease development?
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Conservation and diversity of MutS proteins
PublicationThe homologues of MutS, mismatch repair protein, exist in all prokaryotes, with the exception of Actinobacteria, Mollicutes and part of the Archaea. Multiple alignments of 316 MutS amino acid sequences from 169 species revealed conserved residues and sequence motifs distinguishing MutS homologues. All MutS homologues show high conservation within the ATPase domain. MutS1, the homologue responsible for DNA mismatch recognition,...
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8-Oxoguanine incision activity is impaired in lung tissues of NSCLC patients with the polymorphism of OGG1 and XRCC1 genes
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Are 8-oxoguanine (8-oxoGua) and 5-hydroxymethyluracil (5-hmUra) oxidatively damaged DNA bases or transcription (epigenetic) marks?
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DNA repair is responsible for the presence of oxidatively damaged DNA lesions in urine
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Central carbon metabolism influences fidelity of DNA replication in Escherichia coli
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Recognition Dynamics of Cancer Mutations on the ERp57-Tapasin Interface
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Structural analysis and predicting effects of natural mutations on telomerase
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Evidence of mutations conferring resistance to clarithromycin in wastewater and activated sludge
PublicationThe occurrence of clarithromycin in wastewater samples and of the activated sludge bacteria possibly resistant to this pharmaceutical was the object of the study. Samples of wastewater or activated sludge were taken from a municipal wastewater treatment plant in summer and winter and characterised regarding their clarithromycin concentrations and the presence of nucleic acid fragments (Cla-sequences) known to be responsible for...
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cDNA sequencing improves the detection of P53 missense mutations in colorectal cancer
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Iron overload and HFE gene mutations in Polish patients with liver cirrhosis
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Identification of two novel mutations in human acute myeloid leukemia cases
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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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Germline mutations in theCHEK2 kinase gene are associated with an increased risk of bladder cancer
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Elimination of wild-type P53 mRNA in glioblastomas showing heterozygous mutations of P53
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Selenium Supplementation Reduced Oxidative DNA Damage in Adnexectomized BRCA1 Mutations Carriers
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Structural, functional, and stability change predictions in human telomerase upon specific point mutations,
PublicationOverexpression of telomerase is one of the hallmarks of human cancer. Telomerase is important for maintaining the integrity of the ends of chromosomes, which are called telomeres. A growing number of human disease syndromes are associated with organ failure caused by mutations in telomerase (hTERT or hTR). Mutations in telomerase lead to telomere shortening by decreasing the stability of the telomerase complex, reducing its accumulation,...
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Liver steatosis correlates with iron overload but not with HFE gene mutations in chronic hepatitis C
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Distant Non-Obvious Mutations Influence the Activity of a Hyperthermophilic Pyrococcus furiosus Phosphoglucose Isomerase
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Kras mutations and PU.1 promoter methylation are new pathways in murine radiation-induced AML
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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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Insights into the Effects of Cancer Associated Mutations at the UPF2 and ATP-Binding Sites of NMD Master Regulator: UPF1
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