Wyniki wyszukiwania - AGRO

1

APC gene in mutated in endometrial cancer of women

100%

Miturski R., Burnouf D., Nothisen M., Tomaszewski J., Jakowicki J., Fuchs R.

Cellular and Molecular Biology Letters

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1998

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tom 03

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nr 2

2

The frequency of mutations in Exon 11 of the CF gene in Polish cystic fibrosis patients

88%

Bal J., Mazurczak T., Reiss J.

Acta Biochimica Polonica

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1992

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tom 39

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nr 3

Results of mutation analysis in exon II of the CF gene have been presented. Using the SSCI' technique 18 mutations (of four different types) were detected in cystic fibrosis patients of Polish origin. Thus, we were able to detect in exon 11 about 10% of all CF mutations occuring in the affected population examined.

3

Reversion of argE3 ochre strain Escherichia coli AB1157 as a tool for studying the stationary-phase [adaptive] mutations

88%

Nowosielska A., Grzesiuk E.

Acta Biochimica Polonica

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2000

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tom 47

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nr 2

Adaptive (starvation-associated) mutations occur in non-dividing cells and allow growth under the selective conditions imposed. We developed a new method for the determination of adaptive mutations in Escherichia coli. The system involves reversion to prototrophy of the argE3OC mutation and was tested on AB1157 strains mutated in the mutT and/or mutY genes. The bacteria that mutated adaptively grow into colonies on minimal medium plates devoid of arginine (starvation conditions) when incubated longer than 4 days. Using the replica plating method we solved the problem of discrimination between growth-dependent and adaptive argE3Arg+ revertants. Phenotype analysis and susceptibility of the Arg+ revertants to a set of T4 phage mutants create an additional possibility to draw a distinction between these two types of Arg+ revertants.

4

A new dominant mutant in mink [ Mustela vison Schreber ]

88%

Trapezov O. V., Tikhomirov I. B., Tikhomirova V. V.

Zeszyty Naukowe. Przegląd Hodowlany

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1996

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tom 27

5

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrom

88%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

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tom 43

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nr 2

The unstable DNA sequence in the FMR1 gene was analyzed in 85 individuals from Polish families with fragile X syndrome in order to characterize mutations responsible for the disease in Poland. In all affected individuals classified on the basis of clinical features and expression of the fragile site at X(q27.3) a large expansion of the unstable sequence (full mutation) was detected. About 5% (2 of 43) of individuals with full mutation did not express the fragile site. Among normal alleles, ranging in size from 20 to 41 CGG repeats, allele with 29 repeats was the most frequent (37%). Transmission of premutated and fully mutated alleles to the offspring was always associated with size increase. No change in repeat number was found when normal alleles were transmitted.

6

Analysis of unstable DNA sequence in FRM1 gene in Polish families with fragile X syndrome

88%

Milewski M., Zygulska M., Bal J., Deelen W. H., Obersztyn E., Bocian E., Halley D. J. J., Horst J., Mazurczak T.

Acta Biochimica Polonica

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1996

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tom 43

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nr 2

7

Ovarian cystadenoma as a characteristics feature of families with hereditary ovarian cancers unassociated with BRCA1 and BRCA2 mutations

88%

Menkiszak J., Brzosko M., Gorski B., Flicinski J., Jakubowska A., Zebielowicz D., Gronwald J., Huzarski T., Byrski T., Teresinski L., Chosia M., Rzepka-Gorska I., Lubinski J.

Journal of Applied Genetics

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2004

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tom 45

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nr 2

8

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

88%

Alexandrino F., Oliveira C. A., Reis F. C., Maciel-Guerra A. T., Sartorato E. L.

Journal of Applied Genetics

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2004

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tom 45

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nr 2

9

TP53 and mutations in human cancer

88%

Szymanska K., Hainaut P.

Acta Biochimica Polonica

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2003

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tom 50

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nr 1

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.

10

Loss of heterozygosity at BRCA1-2 loci in hereditary and sporadic ovarian cancers

75%

Brozek I., Ochman K., Debniak J., Morzuch L., Ratajska M., Stepnowska M., Stukan M., Emerich J., Limon J.

Journal of Applied Genetics

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2009

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tom 50

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nr 4

379-384

Loss of heterozygosity at BRCA 1/2 loci in breast and ovarian tumors is a suggested risk factor for germline BRCA1/2 mutation status. We evaluated the presence of losses of selected microsatellite markers localized on chromosomes 17 and 13q in hereditary and sporadic ovarian tumors. 151 consecutive primary ovarian tumors (including 21 with BRCA1/2 mutations and 130 without the mutations) were screened for loss of heterozygosity at loci on chromosomes 17 and 13q. Losses of heterozygosity of at least one microsatellite marker localized on chromosomes 17 and 13q were revealed in 123 (81.5%) and 104 (68.9%) tumors, respectively. Losses of all informative markers on chromosomes 17 and 13 occurred in 30 (19.9%) and 31 (20.5%) tumors, respectively. There was no difference in the frequency of losses at BRCA1 intragenic markers (D17S855 and D17S1323) between BRACA1-positive and BRCA1-negative patients. The frequency of losses on chromosome 17 was higher in high-grade than in low-grade carcinomas. Loss of heterozygosity on chromosomes 17 and 13q is a frequent phenomenon in both hereditary and sporadic ovarian cancers. The frequency of losses at BRCAl intragenic markers in the ovarian tumor tissue is not strongly related to the presence of BRCAl germline mutations.

11

Sensitivity and specificity of high-resolution melting analysis in screening unknown SNPs and genotyping a known mutation

75%

Ye M. H., Chen J. L., Zhao G. P., Zheng M. Q., Wen J.

Animal Science Papers and Reports

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2010

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tom 28

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nr 2

High-resolution melting analysis (HRMA) was used to screen potential SNPs in the exons of chicken CAPN1 (μ-calpain/large subunit) gene. A total of 312 DNA samples from Beijing-you chickens were used for detection. Twelve pairs of primer were designed to amplify twelve different exons and SNPs were detected in five of them. HRMA was also compared with PCR-SSCP analysis for genotyping of a known SNP site in the chicken adipocyte fatty acid binding protein gene (A-FABP). Amplicons of 275-bp fragment, bracketing the polymorphic site, were grouped by PCR-SSCP into three genotypem designated as CC, TT and CT. Small amplicons (56 bp) within the 275-bp fragments were designed to maximize the Tm difference between homozygotes and to genotype all possible three genotypes after a single melting analysis successfully. Results from different methods were cross-validated and sequencing results from randomly selected heterozygotes and homozygotes confirmed the specificity of HRM technique. The full consistency proved that HRMA was a useful tool for rapid, close-tube genotyping of polymorphic sites. It has great potential for SNPs detection and scanning especially on a large scale.

12

Predisposition to diseases and mutations in the genes of immunity system

75%

Mikula Sr. I., Bhide M., Mikula Jr. I., Kovac G.

Prace i Materiały Zootechniczne

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2009

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tom 67

13

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

75%

Phadke S. R., Gupta N., Girisha K. M., Kabra M., Maeda M., Vidal E., Moser A., Steinberg S., Puri R. D., Verma I. C., Braverman N.

Journal of Applied Genetics

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2010

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tom 51

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nr 1

107-110

Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.

14

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Influence of chemical mutagens on morphological traits in kalanchoe (Kalanchoe hybrida)

75%

Krupa-Malkiewicz M.

Folia Pomeranae Universitatis Technologiae Stetinensis. Agricultura, Alimentaria, Piscaria et Zootechnica

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2010

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tom 15

15

Important residue [G46] in erythroid spectrin tetramer formation

75%

Kang J., Song Y., Sevinc A., Fung L. W.-M.

Cellular and Molecular Biology Letters

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2010

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tom 15

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nr 1

46-54

Spectrin tetramerization is important for the erythrocyte to maintain its unique shape, elasticity and deformability. We used recombinant model proteins to show the importance of one residue (G46) in the erythroid α-spectrin junction region that affects spectrin tetramer formation. The G46 residue in the erythroid spectrin N-terminal junction region is the only residue that differs from that in non-erythroid spectrin. The corresponding residue is R37. We believe that this difference may be, at least in part, responsible for the 15-fold difference in the equilibrium constants of erythroid and non-erythroid tetramer formation. In this study, we replaced the Gly residue with Ala, Arg or Glu residues in an erythroid α-spectrin model protein to give G46A, G46R or G46E, respectively. We found that their association affinities with a β-spectrin model protein were quite different from each other. G46R exhibited a 10-fold increase and G46E exhibited a 16-fold decrease, whereas G46A showed little difference, when compared with the wild type. The thermal and urea denaturation experiments showed insignificant structural change in G46R. Thus, the differences in affinity were due to differences in local, specific interactions, rather than conformational differences in these variants. An intra-helical salt bridge in G46R may stabilize the partial domain single helix in α-spectrin, Helix C’, to allow a more stable helical bundling in the αβ complex in spectrin tetramers. These results not only showed the importance of residue G46 in erythroid α-spectrin, but also provided insights toward the differences in association affinity between erythroid and non-erythroid spectrin to form spectrin tetramers.

16

Andersen-Tawil syndrome (ATS) - case report and literature review

75%

Olszewska K., Blaszczak J., Mielnik-Blaszczak M.

Journal of Pre-Clinical and Clinical Research

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2014

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tom 08

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nr 2

Andersen-Tawil Syndrome (ATS) is a rare genetic disorder inherited in an autosomal dominant pattern caused by mutations in the KCNJ2 gene encoding Kir2.1 protein forming potassium ion channel, leading to disruption of cardiac and skeletal muscle repolarisation. Clinical symptoms include periodic paralysis, ventricular arrhythmia associated with QT prolongation and typical skeletal and facial dysmorphic features. The aim of the study was to present characteristic features of the rare Andersen-Tawil syndrome (ATS) within the face and oral cavity of a 9-year-old boy. The patient was diagnosed with Andersen-Tawil syndrome (OMIM#170390) at the age of 8 due to the positive family history, typical dysmorphic features, and the presence of mutation in the KCNJ2 gene confirmed by genetic testing. Typical manifestations of ATS were diagnosed: cardiac arrhythmia, short stature, scoliosis and clinodactyly. Clinical examination revealed typical facial dysmorphic features of ATS: broad forehead, triangular shape of the face, hypertelorism, microstomia, low-set ears, and mandibular retrognathism. Intraoral examination revealed: high-arched palate, crowding in the dental arches, hypomineralisation of enamel and high incidence of dental caries. Dental age assessment by Demirijan pointed to delayed development of permanent dentition. Cephalometric analysis revealed skeletal class II with high angle vertical jaws relation. Diagnosis of ATS requires high index of suspicion because of a great variability in the clinical manifestation of the syndrome. The subtle nature of the dysmorphic features often delays the diagnosis of this syndrome, and its potentially lethal cardiac arrhythmia remaining undetected.

17

A new look at adaptive mutations in bacteria

75%

Janion C.

Acta Biochimica Polonica

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2000

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tom 47

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nr 2

This is a short survey of the adaptive mutation processes that arise in non- or slowly- dividing bacterial cells and includes: (i) bacterial models in which adaptive mutations are studied; (ii) the mutagenic lesions from which these mutations derive; (iii) the influence of DNA repair processes on the spectrum of adaptive mutations. It is proposed that in starved cells, likely as during the MFD phenomenon, lesions in tRNA suppressor genes are preferentially repaired and no suppressor tRNAs are formed as a result of adaptive mutations. Perhaps the most provocative proposal is (iv) a hypothesis that the majority of adaptive mutations are selected in a pre-apoptotic state where the cells are either mutated, selected, and survive, or they die.

18

Serine proteinase inhibitor family in squash seeds: mutational variability mechanism and correlation

75%

Leluk J.

Cellular and Molecular Biology Letters

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2000

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tom 05

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nr 1

Proteinase inhibitors from squash seeds were analyzed for mutational variability. The non-homologous positions were subjected to an analysis of the interrelation between occurring residues and the mechanism of variability, using the algorithm of genetic semihomology [1]. The study also concerned mutational correlation at particular positions and their contact with each other. It was observed that: the number of residues occupying particular positions varies from 1 to 8 the mechanism of variability is based on single point mutation the variable positions are seldom in contact with each other the mutations in distant positions (not in contact with each other) are correlated with each other the correlated mutations refer to those positions which are far from the reactive site of the inhibitor the mutational variability in primary structure within this family is not consistent with the Markovian model of amino acid replacement.

19

The effect of Arg209 to Lys mutation in mouse thymidylate synthase

75%

Ciesla J., Golos B., Walajtys-Rode E., Jagielska E., Plucienniczak A., Rode W.

Acta Biochimica Polonica

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2002

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tom 49

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nr 3

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, R209K dUMP)/ (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.

20

In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene

75%

Zekanowski C., Perez B., Desviat L. R., Wiszniewski W., Ugarte M.

Acta Biochimica Polonica

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2000

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tom 47

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nr 2

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.

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