Search results

1

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

100%

Pietrzyk J. J., Bik-Multanowski M., Sanak M., Twardowska M.

Journal of Applied Genetics

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2003

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vol. 44

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issue 1

111-113

EN

We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spina bifida. The studied population included 106 mothers and 104 children from affected families, and a control group of 100 adults. We found statistically significant differences between the occurrence of the homozygosity in these polymorphisms in the groups of mothers and children with thoracolumbal defects (C677T polymorphism) and lumbosacral defects (A66G polymorphism). We postulate that these polymorphisms should be regarded as independent risk factors for spina bifida.

2

Assessment of hemocompatibility of materials with arterial blood flow by platelet functional tests

100%

Sanak M., Jakieła B., Węgrzyn W.

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2010

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issue 2

3

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

88%

Sucharski P., Sanak M., Kostyk E., Pietrzyk J. J., Kruczek A.

Journal of Applied Genetics

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1998

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vol. 39

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issue 4

367-373

EN

A BESS-T-Scan analysis of cDNA COL1A1 and COL1A2 obtained by RT-PCR derived from five patients with sporadic forms of ostegenesis imperfecta was performed. The study was done in four patients with type I and one patient with type III OI. The analysis revealed the presence of structural changes in two regions of cDNA COL1A1 in two patients. No quantitative changes referring to COL1A2 gene were noted in any patient. The above analysis was the first application of the BESS-T-Scan technique in a molecular diagnosis of OI. The applied method seems to be useful and fulfil the basic criteria of the screening method to detect and locate mutations.

4

Antisense oligonucleotides against inducible nitric oxide synthase reduce No production in RAW 264.7 cells

88%

Bilecki W., Okruszek A., Kwinkowski M., Sanak M., Przewlocki R.

Biotechnologia

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1996

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issue 4

173-182

EN

Several oligodeoxyribonucleotides in a nuclease-resistant phosphorothioate form targeted to iNOS mRNA were tested in RAW 264,7 cells as potential antisense inhibitors.Antisense S-ODNs inhibited iNOS activity in a time- and dose-depended manner.Application of Lipofectin agent, which itself had no significant effect, greatly increased antisense activity.Decreased levels of the target mRNA, as demonstrated by reverse transcriptase -polymerase chain reaction (RT-PCR), suggest tha RNase H mediated mechanism.

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1 Okruszek A.

1 Przewlocki R.

1 Sucharski P.

1 Twardowska M.

1 Węgrzyn W.

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida

Assessment of hemocompatibility of materials with arterial blood flow by platelet functional tests

Molecular studies in osteogenesis imperfecta (OI). III. cDNA of COL1A1 and COL1A2 analysis using the BESS-T-Scan technique

Antisense oligonucleotides against inducible nitric oxide synthase reduce No production in RAW 264.7 cells