Wyniki wyszukiwania

1

APC gene mutations causing familial adenomatous polyposis in Polish patients

100%

Plawski A., Slomski R.

Journal of Applied Genetics

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2008

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tom 49

|

nr 4

407-414

Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5’end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients.

2

Production of spores and enzymes by Penicillium roqueforti immobilized on a polyurethane foam support

100%

Grajek W., Plawski A.

Roczniki Akademii Rolniczej w Poznaniu. Technologia Żywności

|

1996

|

tom 20

17-23

3

Geny supresorowe nowotworow.

100%

Plawski A., Slomski R.

Postępy Biologii Komórki. Suplement

|

1998

|

tom 10

251-264

4

Determination of the absolute number of transgene copies in CMVFut transgenic pigs

81%

Lipinski D., Zeyland J., Plawski A., Slomski R.

Annals of Animal Science

|

2012

|

tom 12

|

nr 3

5

Gen APC.

81%

Plawski A., Paszkowski J., Slomski R.

Postępy Biologii Komórki. Suplement

|

2000

|

tom 14

21-37

6

Artykuł dostępny w postaci pełnego tekstu - kliknij by otworzyć plik

Diagnostyka molekularna w biologii i medycynie

81%

Slomski R., Napierala D., Plawski A., Gronek P.

Wiadomości Parazytologiczne

|

1998

|

tom 44

|

nr 2

151-168

In the last decade, the development and application of molecular techniques has revolutionised the diagnosis and monitoring of human diseases. Nucleic acids techniques, such as microbial DNA genotyping, analysis of restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR), are making progress in medical diagnostic laboratories. Sequence analysis of amplified DNA allows better identification of pathogen, detection of mutant genes and more accurate prognosis of certain diseases.

7

Budowa i zastosowanie wybranych glikozoaminoglikanow

71%

Zeyland J., Lipinski D., Juzwa W., Plawski A., Slomski R.

Medycyna Weterynaryjna

|

2006

|

tom 62

|

nr 02

139-144

Proteoglycans can be found in the extracellular matrix of most tissues. They play the role of receptors, take part in cellular adhesion and also interactions between cells. Proteoglycans consist of proteins with one or more covalently bonded glycosaminoglycans. There are seven different types of glycosaminoglycans: hyaluronic acid, heparin and sulphates of chondroitin, keratan I and II, heparin and dermatan. Hyaluronic acid and chondroitin sulphate appear in synovial fluid where they take part in binding water, preventing mechanical stress and increasing elasticity. Keratan sulphate and chondroitin sulphate are used as potential markers of osteoarthritis. Osteoarthritis is a type of arthritis that is caused by the breakdown and eventual loss of the cartilage of one or more joints. Cartilage is a protein substance that serves as a cushion between the bones of the joints. Dermatan sulphate is responsible for the individual resistance to inflammation and pathogens. Understanding the mechanisms of interactions between glycosaminoglycans and pathogens will help to develop more effective vaccinations. The perfect functioning of glycosaminoglycans depends on the efficient activity of both synthesising and degrading enzymes. Even small dysfunctions cause major diseases and disorders.

8

The ryanodine receptor gene [RYR1] occurs in ducks genome

61%

Gronek P., Napierala D., Kontecka H., Plawski A., Banasiewicz T., Slomski R.

Roczniki Akademii Rolniczej w Poznaniu. Zootechnika

|

1999

|

tom 51

135-139

9

Gene constructs for xenotransplantation

61%

Lipinski D., Juzwa W., Zeyland J., Plawski A., Wielgus K., Slomski R.

Acta Biochimica Polonica

|

2003

|

tom 50

|

nr Supplement 1

10

A note on ryanodine receptor gene [ryr 1] occurence in the anserine genome

61%

Gronek P., Napierala D., Plawski A., Rosinski A., Slomski R., Banasiewicz T.

Journal of Animal and Feed Sciences

|

1999

|

tom 08

|

nr 2

203-207

11

Sequence polymorphism of exon 17 of the ryanodine receptor gene [ryr1] in the Canidae

61%

Gronek P., Nuc K., Napierala D., Plawski A., Zajac M., Banasiewicz T., Slomski R.

Journal of Animal and Feed Sciences

|

2000

|

tom 09

|

nr 4

12

Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene

61%

Gronek P., Slomski R., Lisiecka D., Plawski A., Nuc K., Banasiewicz T.

Journal of Applied Genetics

|

1998

|

tom 39

|

nr 3

The RYR1 gene encoding the Ca²⁺ channel of sarcoplasmic reticulum of human skeletal muscle has been cloned and its nucleotide sequence has been determined earlier. We have used the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP), and sequencing analysis for human, porcine (Sus scrofa), and zebrine (Equus grevyi) ryanodine receptor (ryrl) gene. The fragment of exon 17 of the ryr1 gene was characterized by a high homology between all the analysed species (substitution of a nucleotide is underlined): porcine ryr1 ¹⁸³⁴GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁹ human RYR1 ¹⁸³¹GTG GCC GTG CGC TCC AAC CAA GAT CT¹⁸⁵⁶ zebrine ryr1 GTG GCC GTG CGC TCC AAC CAA GAC CT.

13

Familial polyposis coli - inducing mutations in APC gene in Poland

61%

Pawlak A. L., Plawski A., Smoczkiewicz P., Kwiatkowska J., Meissner W., Krokowicz P., West S. P.

Journal of Applied Genetics

|

1997

|

tom 38

|

nr 1

Screening for molecular changes within the adenomatous polyposis coli (APC) gene, exons 11-14 and the 5’ half of exon 15, encompassing the mutation cluster region within exon 15, was performed in 30 patients with Familial Polyposis Coli (FAP). All patients were studied by heteroduplex analysis (HA) and single strand conformation polymorphism (SSCP) and molecular changes were found in 7 cases. Protein truncation test (PTT) has been performed in 17 cases in which mutations have not been found earlier, and shortening of protein product was noted in 2 cases. In three cases common deletion of 5 bp at codon 1309 and in one 5 bp deletion at codon 1061 were found. In other cases the molecular changes were demonstrated as heteroduplexes in exon 14 (1 patient), in segments E and F (one patient each) of exon 15, and in two cases the heteroduplexes were within the overlapping sequences of segments E/F and F/G of exon 15, respectively. In families where the molecular changes were found by HA, 7 persons at high risk for FAP were found and advised to undergo regular endoscopic examinations. In three persons at risk the transfer of mutation was excluded.

14

Zastosowanie analizy DNA w ustalaniu ojcostwa.

51%

Slomski R., Kwiatkowska J., Siemieniako B., Napierala D., Plawski A., Chlebowska H., Dziechciowska K., Slomska M.

Postępy Biologii Komórki. Suplement

|

1998

|

tom 10

137-156

15

Conflicting results of non-invasive methods for detection of Helicobacter pylori infection in children with celiac disease - a preliminary study

51%

Jozefczuk J., Madry E., Nowak J., Walkowiak M., Lochocka K., Banasiewicz T., Plawski A., Kwiecien J., Walkowiak J.

Acta Biochimica Polonica

|

2016

|

tom 63

|

nr 1

16

Novel mutation in the RYR1 gene of the wolf [Canis lupus]

51%

Gronek P., Nuc K., Napierala D., Plawski A., Zajac M., Bereszynski A., Banasiewicz T., Slomski R.

Animal Science Papers and Reports

|

1998

|

tom 16

|

nr 4

231-236

17

Identification of the rate of chimerism of different tissues with microsatellite markers in chicken chimeras

51%

Siwek M., Slawinska A., Lakota P., Grajewski B., Wawrzynska M., Wisniewska E., Plawski A., Slomski R., Bednarczyk M.

Folia Biologica

|

2010

|

tom 58

|

nr 3-4

257-263

18

Expression of human growth hormone in the milk of transgenic rabbits with transgene mapped to the telomere region of chromosome 7q

51%

Lipinski D., Zeyland J., Szalata M., Plawski A., Jarmuz M., Jura J., Korcz A., Smorag, Z., Pienkowski M., Slomski R.

Journal of Applied Genetics

|

2012

|

tom 53

|

nr 4

The advent of transgenic technology has provided methods for the production of pharmaceuticals by the isolation of these proteins from transgenic animals. The mammary gland has been focused on as a bioreactor, since milk is easily collected from lactating animals and protein production can be expressed at very high levels, including hormones and enzymes. We demonstrate here the expression pattern of recombinant human growth hormone (rhGH) in transgenic rabbits carrying hGH genomic sequences driven by the rat whey acidic protein (WAP) promoter. The transgene was mapped to the q26-27 telomere region of chromosome 7q by fluorescence in situ hybridization (FISH). Nearly 30 % of the F1 generation demonstrated the presence of transgene. The recombinant growth hormone was detected in the milk of the transgenic rabbit females, but not in serum, up to the level of 10 μg/ml. Ectopic expression of the transgene in the brain, heart, kidney, liver, and salivary gland was not observed, indicating that a short sequence of rat WAP promoter (969 bp) contained essential sequences directing expression exclusively to the mammary gland. The biological activity of recombinant growth hormone was measured by immunoreactivity and the capability to stimulate growth of the hormone-dependent Nb211 cell line.

19

Ekspresyjne konstrukcje genowe prawidłowych i zmutowanych genów

42%

Lipinski D., Szalata M., Kalak R., Plawski A., Nuc K., Kala M., Juzwa W., Slomska K., Gronek P., Jura J., Jura J., Smorag Z., Pienkowski M., Slomski R.

Biotechnologia

|

2003

|

nr 1

20

Comparison of fecal pyruvate kinase isoform M2 and calprotectin in assessment of pediatric inflammatory bowel disease severity and activity

42%

Czub E., Nowak J. K., Szaflarska-Poplawska A., Grzybowska-Chlebowczyk U., Landowski P., Moczko J., Adamczak D., Mankowski P., Banasiewicz T., Plawski A., Walkowiak J.

Acta Biochimica Polonica

|

2014

|

tom 61

|

nr 1

Aims: Accurate assessment of inflammatory bowel disease (IBD) activity is the cornerstone of effective therapy. Fecal M2 isoform of pyruvate kinase (M2-PK) and fecal calprotectin (FC) are noninvasive markers of mucosal inflammation in IBD. The aim of this study was to compare performance of M2-PK and FC in assessment of pediatric ulcerative colitis (UC) and Crohn's disease (CD) severity and activity. Materials and methods: 121 patients with IBD, including 75 with UC and 46 with CD were recruited. Control group consisted of 35 healthy children (HS). Patients were assigned to groups depending on disease severity and activity. M2-PK and calprotectin concentration were determined in stool samples using ELISA. Areas under receiver operating characteristic curves (AUC) for FC and M2-PK with cut-off level at which M2-PK specificity was matching FC specificity were calculated and compared. Results: Performance of M2-PK at identifying patients with IBD, UC and CD among HS was inferior to FC. The differences in AUC were respectively: -0.10 (95% confidence interval [CI] [-0.13-(-0.06)], p<0.0001), -0.14 (95% CI [-0.19-(-0.09)], p<0.0001) and -0.03 (95% CI [-0.05-(-0.001)], p<0.02). M2-PK was inferior to FC in discriminating patients with mild UC from those with HS (AUC difference -0.23, 95% CI [-0.31-(-0.15)], p<0.0001). Conclusions: FC reflects pediatric IBD severity and activity better than M2-PK. This difference is particularly pronounced when identifying patients with mild UC and UC in remission.

Ograniczanie wyników

APC gene mutations causing familial adenomatous polyposis in Polish patients

Production of spores and enzymes by Penicillium roqueforti immobilized on a polyurethane foam support

Geny supresorowe nowotworow.

Determination of the absolute number of transgene copies in CMVFut transgenic pigs

Gen APC.

Diagnostyka molekularna w biologii i medycynie

Budowa i zastosowanie wybranych glikozoaminoglikanow

The ryanodine receptor gene [RYR1] occurs in ducks genome

Gene constructs for xenotransplantation

A note on ryanodine receptor gene [ryr 1] occurence in the anserine genome

Sequence polymorphism of exon 17 of the ryanodine receptor gene [ryr1] in the Canidae

Homology of DNA sequences encompassing the malignant hyperthermia mutation site in the human, porcine, and zebrine ryrl gene

Familial polyposis coli - inducing mutations in APC gene in Poland

Zastosowanie analizy DNA w ustalaniu ojcostwa.

Conflicting results of non-invasive methods for detection of Helicobacter pylori infection in children with celiac disease - a preliminary study

Novel mutation in the RYR1 gene of the wolf [Canis lupus]

Identification of the rate of chimerism of different tissues with microsatellite markers in chicken chimeras

Expression of human growth hormone in the milk of transgenic rabbits with transgene mapped to the telomere region of chromosome 7q

Ekspresyjne konstrukcje genowe prawidłowych i zmutowanych genów

Comparison of fecal pyruvate kinase isoform M2 and calprotectin in assessment of pediatric inflammatory bowel disease severity and activity