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Wyświetlanie 1-10 z 113
Tytuł:
TP53 and mutations in human cancer.
Autorzy:
Szymańska, Katarzyna
Hainaut, Pierre
Powiązania:
https://bibliotekanauki.pl/articles/1043670.pdf
Data publikacji:
2003
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
CF DNA
cancer
mutation fingerprint
mutation
Ser-249
TP53
Opis:
TP53 is the most frequently mutated gene in human cancer, with a predominance of missense mutations scattered over 200 codons. In many cancers, specific mutation patterns can be identified, which are shaped by site-specific mutagenesis and by biological selection. In tobacco-related cancers (lung, head and neck), organ-specific patterns are observed, with many mutations compatible with the ones experimentally induced by tobacco carcinogens. In several other cancers, such as squamous cell carcinoma of the oesophagus or hepatocellular carcinoma (HCC), mutation patterns show geographic variations between regions of high and low incidence, suggesting a role for region-specific risk factors. HCC from high-incidence regions showing also a high prevalence of a specific Ser-249 TP53 mutation is one of the most striking examples of a mutagen fingerprint. All such assessments are useful to generate clues on the mutagenic mechanisms involved in human cancer. Moreover, it has been shown that DNA retrieved from plasma can be successfully used for detection of TP53 mutations, which gives hope for earlier more accurate detection of human cancers.
Źródło:
Acta Biochimica Polonica; 2003, 50, 1; 231-238
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Zmiana genetyczna: ślepa, ukierunkowana, interpretatywna?
Genetic Variation: Blind, Directed, Interpretative?
Autorzy:
Jablonka, Eva
Lamb, Marion J.
Powiązania:
https://bibliotekanauki.pl/articles/553445.pdf
Data publikacji:
2008
Wydawca:
Uniwersytet Zielonogórski. Instytut Filozofii
Tematy:
lamarkizm
rozmnażanie płciowe
teoria ewolucji
mutacja interpretatywna
mutacja ślepa
mutacja kierowana
mutacja
Lamarckism
sexual reproduction
evolutionary theory
interpretative mutation
blind mutation
directed mutation
mutation
Opis:
W artykule poruszone zostało zagadnienie pochodzenia zmienności genetycznej. Dwa jej źródła to: mutacje genetyczne i rozmnażanie płciowe. Autorki zasadniczo skupiają się na mutacjach, kwestii rozmnażania płciowego pozostawiając rolę wstępu. Mieszanie genów od nieidentycznych osobników, przekazywanie różnego materiału genetycznego każdemu z potomków oraz rekombinacja genów w procesie crossing-over są podstawowymi skutkami rozmnażania płciowego. Co do mutacji genetycznych, to oprócz całkowicie ślepych zmian genomu oraz w pełni ukierunkowanych reakcji fizjologicznych organizmu, zdaniem autorek, istnieje całe spektrum procesów, które należałoby umieścić gdzieś między dwoma tymi ekstremami. Omówieniu tego trzeciego typu mutacji – nie do końca losowych, ale też nie w pełni zdeterminowanych – poświęcona jest zasadnicza część tekstu.
The article brings up the issue of genetic variability source. Two causes of that variability are genetic mutations and sexual reproduction. The authors generally focus on the mutations. The issue of sexual reproduction is concerned only as an introduction. Mixing of genes from non-identical parents, transmission of different genetic material to every descendant, and recombination of genes in the crossing-over process are the main effects of sexual reproduction. As for genetic mutations, authors say that in addition to entirely blind genetic variation and absolutely directed physiological reactions of organism there is a whole spectrum of processes which should be placed somewhere between these two extremes. The basic part of this text refers to this particular third type of mutations – not exactly random but, at the same time, not entirely determined.
Źródło:
Filozoficzne Aspekty Genezy; 2007-2008, 4-5; 163-201
2299-0356
Pojawia się w:
Filozoficzne Aspekty Genezy
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
ARMS-PCR for detection of BRAF V600E hotspot mutation in comparison with Real-Time PCR-based techniques
Autorzy:
Machnicki, Marcin
Glodkowska-Mrowka, Eliza
Lewandowski, Tomasz
Ploski, Rafał
Wlodarski, Pawel
Stoklosa, Tomasz
Powiązania:
https://bibliotekanauki.pl/articles/1039607.pdf
Data publikacji:
2013
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
molecular diagnostics
BRAF mutation screening
Opis:
BRAF mutation testing is one of the best examples how modern genetic testing may help to effectively use targeted therapies in cancer patients. Since many different genetic techniques are employed to assess BRAF mutation status with no available comparison of their sensitivity and usefulness for different types of samples, we decided to evaluate our own PCR-based assay employing the amplification refractory mutation system (ARMS-PCR) to detect the most common hotspot mutation c. T1799A (p. V600E) by comparing it with two qPCR based assays: a commercially available test with hybridizing probes (TIB MOLBIOL) and high resolution melting (HRM). Positive results were verified with Sanger sequencing. DNA from two cancer cell lines with known mutation status and from tissue samples from melanoma and gastric cancer was used. ARMS-PCR was the most sensitive method with the level of detection of the mutant allele at 2%. Similar sensitivity was observed for the qPCR-based commercial test employing hybridizing probes; however, this test cannot exclude negative results from poor or low quality samples. Another qPCR-based method, HRM, had lower sensitivity with the detection level of approximately 20%. An additional drawback of HRM methodology was the inability to distinguish between wild type and mutant homozygotes in a straightforward assay, probably due to the character of this particular mutation (T\>A). Sanger sequencing had the sensitivity of the detection of mutant allele similar to HRM, approx. 20%. In conclusion, simple ARMS-PCR may be considered the method of choice for rapid, cost-effective screening for BRAF p. V600E mutation.
Źródło:
Acta Biochimica Polonica; 2013, 60, 1; 57-64
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
The effect of Arg209 to Lys mutation in mouse thymidylate synthase.
Autorzy:
Cieśla, Joanna
Gołos, Barbara
Wałajtys-Rode, Elżbieta
Jagielska, Elżbieta
Płucienniczak, Andrzej
Rode, Wojciech
Powiązania:
https://bibliotekanauki.pl/articles/1043728.pdf
Data publikacji:
2002
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
nucleotide's phosphate binding
thymidylate synthase
mutation
Opis:
Mouse thymidylate synthase R209K (a mutation corresponding to R218K in Lactobacillus casei), overexpressed in thymidylate synthase-deficient Escherichia coli strain, was poorly soluble and with only feeble enzyme activity. The mutated protein, incubated with FdUMP and N5,10-methylenetetrahydrofolate, did not form a complex stable under conditions of SDS/polyacrylamide gel electrophoresis. The reaction catalyzed by the R209K enzyme (studied in a crude extract), compared to that catalyzed by purified wild-type recombinant mouse thymidylate synthase, showed the Km value for dUMP 571-fold higher and Vmax value over 50-fold (assuming that the mutated enzyme constituted 20% of total crude extract protein) lower. Thus the ratios kcat, R209K/kcat, 'wild' and (kcat, R209K/Km, R209KdUMP)/( kcat, 'wild'/Km, 'wild'dUMP) were 0.019 and 0.000032, respectively, documenting that mouse thymidylate synthase R209, similar to the corresponding L. casei R218, is essential for both dUMP binding and enzyme reaction.
Źródło:
Acta Biochimica Polonica; 2002, 49, 3; 651-658
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Biochemical characterization of a catalase from Vibrio vulnificus, a pathogen that causes gastroenteritis
Autorzy:
Pei, Jihua
Wang, Haijun
Wu, Limin
Xia, Shenglong
Xu, Changlong
Zheng, Bo
Li, Tianya
Jiang, Yi
Powiązania:
https://bibliotekanauki.pl/articles/1038620.pdf
Data publikacji:
2017
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
catalase
Vibrio vulnificus
kinetics
mutation
gastroenteritis.
Opis:
Vibrio vulnificus is a virulent human pathogen causing gastroenteritis and possibly life threatening septicemia in patients. Most V. vulnificus are catalase positive and can deactivate peroxides, thus allowing them to survive within the host. In the study presented here, a catalase from V. vulnificus (CAT-Vv) was purified to homogeneity after expression in Escherichia coli. The kinetics and function of CAT-Vv were examined. CAT-Vv catalyzed the reduction of H2O2 at an optimal pH of 7.5 and temperature of 35°C. The Vmax and Km values were 65.8±1.2 U/mg and 10.5±0.7 mM for H2O2, respectively. Mutational analysis suggests that amino acids involved in heme binding play a key role in the catalysis. Quantitative reverse transcription-PCR revealed that in V. vulnificus, transcription of CAT-Vv was upregulated by low salinity, heat, and oxidative stresses. This research gives new clues to help inhibit the growth of, and infection by V. vulnificus.
Źródło:
Acta Biochimica Polonica; 2017, 64, 3; 543-549
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
MutS as a tool for mutation detection
Autorzy:
Stanisławska-Sachadyn, Anna
Sachadyn, Paweł
Powiązania:
https://bibliotekanauki.pl/articles/1041359.pdf
Data publikacji:
2005
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
fusion
SNP
chimeric protein
MutS
mutation detection
Opis:
MutS, a DNA mismatch-binding protein, seems to be a promising tool for mutation detection. We present three MutS based approaches to the detection of point mutations: DNA retardation, protection of mismatched DNA against exonuclease digestion, and chimeric MutS proteins. DNA retardation in polyacrylamide gels stained with SYBR-Gold allows mutation detection using 1-3 µg of Thermus thermophilus his6-MutS protein and 50-200 ng of a PCR product. The method enables the search for a broad range of mutations: from single up to several nucleotide, as mutations over three nucleotides could be detected in electrophoresis without MutS, due to the mobility shift caused by large insertion/deletion loops in heteroduplex DNA. The binding of DNA mismatches by MutS protects the complexed DNA against exonuclease digestion. The direct addition of the fluorescent dye, SYBR-Gold, allows mutation detection in a single-tube assay. The limited efficiency of T4 DNA polymerase as an exonuclease hampers the application of the method in practice. The assay required 300-400 ng of PCR products in the range of 200-700 bp and 1-3 µg of MutS. MutS binding to mismatched DNA immobilised on a solid phase can be observed thanks to the activity of a reporter domain linked to MutS. We obtained chimeric bifunctional proteins consisting of T. thermophilus MutS and reporter domains, like β-galactosidase or GFP. Very low detection limits for β-galactosidase could theoretically enable mutation detection not only by the examination of PCR products, but even of genomic DNA.
Źródło:
Acta Biochimica Polonica; 2005, 52, 3; 575-583
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Mutational witches’ broom impact on the growth of the parent branch in several Pinaceae species
Autorzy:
Zhuk, E.
Vasilyeva, G.
Goroshkevich, S.
Powiązania:
https://bibliotekanauki.pl/articles/2077653.pdf
Data publikacji:
2020
Wydawca:
Polska Akademia Nauk. Instytut Dendrologii PAN
Tematy:
somatic mutation
annual rings
crown part interaction
Opis:
Mutational witches’ broom is a part of the tree crown with abnormally dense branching and slow shoot growth, which putatively originates from a cell in a bud apical meristem and can be visually differentiated from the normal crown. The witches’ broom forms a large branching system which competes sufficiently with other parts of the tree crown. However, the competitive relationship and the interaction between the mutant and normal crown parts have not yet been studied. We investigated the patterns and dynamics of the competitive relationship between witches’ broom and normal branching systems of the same tree of five Pinaceae species by tree ring analysis. Three saw-cuts were made in each tree: on the lateral branch with the witches’ broom, on the proximal part of the axial branch in front of the branch with the witches’ broom, on the distal part of the axial branch right after the branch with the witches’ broom. An- nual radial growth was measured to the nearest 0.01 mm, and annual ring areas from three saw-cuts were analysed to compare the growth dynamics before and after witches’ broom appearance. The growth of the lateral branch with the witches’ broom sharply increased in the year of witches’ broom appearance by 2–10 times. The growth of the distal part of the axial branch sharply decreased in the same year, which could be explained only by the witches’ broom appearance. All branches with witches’ brooms gradually became thicker than the distal part of the branch, 3–150 times at the peak of growth, and occasionally outgrew even the proximal part of the branch. Thus, witches’ broom is drastically morphologically and physiologically different from the rest of the crown. All witches’ brooms had their own vertically oriented axis of symmetry and represented autonomous branching systems that were not subordinate to any other branching systems. They break the normal donor-acceptor relationship in a tree and eagerly consume resources without being fully involved in their production. The mutation clearly affects the hormonal regulation of growth and morphogenesis and turns a witches’ broom into a new metabolic sink.
Źródło:
Dendrobiology; 2020, 83; 52-59
1641-1307
Pojawia się w:
Dendrobiology
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans.
Autorzy:
Gajko-Galicka, Anna
Powiązania:
https://bibliotekanauki.pl/articles/1043782.pdf
Data publikacji:
2002
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
osteogenesis imperfecta
type I collagen
mutation
Opis:
Osteogenesis imperfecta (OI), commonly known as "brittle bone disease", is a dominant autosomal disorder characterized by bone fragility and abnormalities of connective tissue. Biochemical and molecular genetic studies have shown that the vast majority of affected individuals have mutations in either the COL1A1 or COL1A2 genes that encode the chains of type I procollagen. OI is associated with a wide spectrum of phenotypes varying from mild to severe and lethal conditions. The mild forms are usually caused by mutations which inactivate one allele of COL1A1 gene and result in a reduced amount of normal type I collagen, while the severe and lethal forms result from dominant negative mutations in COL1A1 or COL1A2 which produce structural defects in the collagen molecule. The most common mutations are substitutions of glycine residues, which are crucial to formation and function of the collagen triple helix, by larger amino acids. Although type I collagen is the major structural protein of both bone and skin, the mutations in type I collagen genes cause a bone disease. Some reports showed that the mutant collagen can be expressed differently in bone and in skin. Since most mutations identified in OI are dominant negative, the gene therapy requires a fundamentally different approach from that used for genetic-recessive disorders. The antisense therapy, by reducing the expression of mutant genes, is able to change a structural mutation into a null mutation, and thus convert severe forms of the disease into mild OI type I.
Źródło:
Acta Biochimica Polonica; 2002, 49, 2; 433-441
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
Autorzy:
Żekanowski, Cezary
Perez, Belen
Desviat, Lourdes
Wiszniewski, Wojciech
Ugarte, Magdalena
Powiązania:
https://bibliotekanauki.pl/articles/1044360.pdf
Data publikacji:
2000
Wydawca:
Polskie Towarzystwo Biochemiczne
Tematy:
phenylalanine hydroxylase
expression analysis
mutation
hyperphenylalaninemia
Opis:
Phenylketonuria (PKU), an autosomal recessive disorder caused be a deficiency of hepatic phenylalanine hydroxylase (PAH), is clinically very heterogeneous. At the molecular level, more than 400 mutations in the PAH gene are known to date, which in different genotype combinations could account for biochemical and clinical variability of symptoms. In vitro expression studies on R68G and R68S mutations causing mild phenylketonuria are presented.
Źródło:
Acta Biochimica Polonica; 2000, 47, 2; 365-369
0001-527X
Pojawia się w:
Acta Biochimica Polonica
Dostawca treści:
Biblioteka Nauki
Artykuł
Tytuł:
K-ras gene mutation as an early prognostic marker of colon cancer
Autorzy:
Szpon, Łukasz
Stal, Aleksander
Zawadzki, Marcin
Lis-Nawara, Anna
Kielan, Wojciech
Grzebieniak, Zugmunt
Kelan, Wojciech
Grzebiak, Zygmunt
Powiązania:
https://bibliotekanauki.pl/articles/1394055.pdf
Data publikacji:
2016
Wydawca:
Index Copernicus International
Tematy:
K-ras gene mutation
colorectal cancer
Opis:
Due to increased colorectal cancer incidence there is a necessity of seeking new both prognostic and prediction factors that will allow to evolve new diagnostic tests. K-ras gene seems to be such a factor and its mutations are considered to be an early marker of progression of colorectal cancer. The aim of the study was to find a correlation between K-ras gene mutation in patients with diagnosed colorectal cancer and selected clinical parameters. Material and methods. A total of 104 patients (41 women and 63 men) with diagnosed colorectal cancer were included in this study. The average age of male group was 68.3 and in female group – 65.9. Samples were taken from paraffine blocks with tissue from diagnosed patients and K-ras gene mutation were identified. Afterwards the statistical analysis was made seeking the correlation betweenK-ras gene mutation incidence and clinical TNM staging system, tumour localisation, histological type, sex, age. Results. K-ras gene mutations were detected in 20.1% of all colorectal cancers. Significantly higher rate of K-ras gene mutations were diagnosed among patients classified at stage I (40%), stage IIC (50%) and stage IV (50%) according to the TNM classification. Conclusions. The results of our study are compatible with other studies and indicate the correlation between K-ras gene mutation and colorectal cancer incidence. Identification of K-ras gene mutation may complement other diagnostic methods at early stage of colorectal cancer.
Źródło:
Polish Journal of Surgery; 2016, 88, 1; 15-19
0032-373X
2299-2847
Pojawia się w:
Polish Journal of Surgery
Dostawca treści:
Biblioteka Nauki
Artykuł
Wyświetlanie 1-10 z 113

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