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Bartosz Mucha, Karolina Przybyłowska-Sygut, Łukasz Dziki, Adam Dziki, Andrzej Sygut and Ireneusz Majsterek

Lack of Association Between the 135G/C Rad51 Gene Polymorphism and the Risk of Colorectal Cancer Among Polish Population

One of the major causes of carcinogenesis is loss of genome stability. RAD51 in process of homologous recombination (HR) played crucial role in maintenance integrity of genome through initiate of DNA double strand breaks repair. Presence of single nucleotide polymorphism (SNP) in RAD51 gene could change the capacity of DNA repair and altered the response to damaging agents. Research on potential impact of genetic variability on development and progression CRC may contribute to setting new genetic markers or/and determined individual susceptibility to CRC.

The aim of the study. This study was designed to evaluate the effect of 135 G/C (rs1801320) RAD51 polymorphism located in the 5' untraslated region on the risk and progression of CRC.

Material and methods. The subjects consisted of histologically confirmed colorectal cancer (n = 200) and controls (n = 200) with lack of previous history of cancer. The distribution of genotypes was determined by restriction fragment length polymorphism PCR (RFLP - PCR). Statistical analysis was based on multivariate regression model.

Results and conclusion. Our study reveal no significance association of 135 G/C RAD51 polymorphism with occurrence and progression of colorectal cancer.

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Maria Sąsiadek and Paweł Karpiński

, Pooley KA, Dunning AM et al.: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007 28; 447(7148): 1087-93. Turnbull C, Rahman N: Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics. Hum Genet 2008; 9: 321-45. Willems PJ: Susceptibility genes in breast cancer: more is less? Clin Genet 2007; 72: 493-96. Venkitaraman AR: Functions of BRCA1 and BRCA2 in the biological response to DNA damage. J Cell Sci 2001; 114

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Bartłomiej Noszczyk and Józef Jethon

Gene Med 2005; 7(9): 1178-86. Szala S: Terapia genowa. Wydawnictwo Naukowe PWN, Warszawa 2003. Recchia A, Perani L, Sartori D et al.: Site-specific integration of functional transgenes into the human genome by adeno/AAV hybrid vectors. Mol Ther 2004; 10(4): 660-70. Ferrari S, Pellegrini G, Mavilio F et al.: Gene therapy approaches for epidermolysis bullosa. Clin Dermatol 2005; 23(4): 430-36. Mavilio F, Pellegrini G, Ferrari S et al.: Correction of junctional

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Jadwiga Żebracka-Gala, Janusz Waler, Jacek Gawrychowski, Kornelia Hasse-Lazar, Małgorzata Kowalska, Andrzej Niemiec, Sylwia Szpak-Ulczok, Beata Jurecka-Lubieniecka, Grzegorz Buła, Witold Truchanowski, Elżbieta Gubała and Barbara Jarząb

-83. Arnold A, Shattuck TM, Mallya SM et al.: Molecular pathogenesis of primary hyperparathyroidism. J Bone Miner Res 2002; 17 Suppl 2: N30-6. Hosokawa Y, Arnold A: Mechanism of cyclin D1 (CCND1, PRAD1) overexpression in human cancer cells: analysis of allele-specific expression. Genes Chromosomes Cancer 1998; 22: 66-71. Vandesompele J, De Preter K, Pattyn F et al.: Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 2002; 3: RESEARCH0034

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Michał Bełdowski

cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011; 39: 945-50. 5. Stopa M, Barczyński M, Konturek A, Nowak W: Ocena częstości przerzutów raka brodawkowatego tarczycy do węzłów. Przegl Lek 2001; 68(12): 1166-69. 6. Gharib H, Papini E, Paschke R et al.: American association of clinical endocrinologists, associazione medici endocrinologi, and european thyroid association medical guidelines for clinical practice for the diagnosis and management of thyroid nodules; for the AACE/AME/ETA Task Force on Thyroid Nodules

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Miłosław Cnotliwy, Agnieszka Kolasa, Artur Kwas, Arkadiusz Kazimierczak and Ireneusz Wiernicki

al.: New insight in aetiopathogenesis of aortic diseases. Eur J Vasc Endovasc Surg 2009; 37: 531-37. Treska V, Kocova J, Boudova L : Inflammation in the wall of abdominal aortic aneurysm and its role in the symptomatology of aneurysm. Cytokines Cell Mol Ther 2002; 7: 91-97. Choke E, Cockerill GW, Laing K et al.: Whole genome-expression profiling reveals a role for immune and inflamatory response in abdominal aortic aneurysm rupture. Eur J Vasc Endovasc Surg 2009; 37: 305-10. Jones

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Janusz Piekarski

MT, Ullrich SJ et al.: Growth arrest induced by wild-type p53 protein blocks cells prior to or near the restriction point in late G1 phase. Proc Natl Acad Sci USA 1992; 89: 9210-14. Lane DP: Cancer. p53, guardian of the genome. Nature 1992; 358: 15-16. Reich NC, Oren M, Levine AJ: Two distinct mechanisms regulate the levels of a cellular tumor antigen, p53. Mol Cell Biol 1983; 3: 2143-50. Momand J, Zametti GP, Olson DC et al.: The mdm-2 oncogene product forms a complex with the

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Gabriella Schiera, Valentina Contrò, Alessia Sacco, Alessandra Macchiarella, Pawel Cieszczyk and Patrizia Proia

, Deng H, Liu X, Liu L, Ji A. Roles of long noncoding RNAs in brain development, functional diversification and neurodegenerative diseases. Brain Res Bull. 2013;97:69-80; doi: 10.1016/j.brainresbull.2013.06.001. 11. Amaral PP, Mattick JS. Noncoding RNA in development. Mamm Genome. 2008;19(7-8):454-492; doi: 10.1007/ s00335-008-9136-7. 12. Qureshi IA, Mehler MF. Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease. Nat Rev Neurosci. 2012;13(8):528-541; doi: 10.1038/ nrn3234. 13

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Vanja Filipovski, Katerina Kubelka-Sabit, Dzengis Jasar, Gligor Dimitrov and Vesna Janevska

complexity emerges from the ashes of genetic reductionism. J Mol Recognit 2004; 17: 145-148. 12. Fukino K, Shen L, Matsumoto S, et al . Combined total genome loss of heterozygosity scan of breast cancer stroma and epithelium reveals multiplicity of stromal targets. Cancer Res 2004; 64: 7231-7236. 13. Olumi AF, Grossfeld GD, Hayward SW, et al . Carcinoma-associated fibroblasts direct tumor progression of initiated human prostatic epithelium. Cancer Res 1999; 59: 5002-5011. 14. Barcellos-Hoff MH, Ravani SA. Irradiated mammary gland stroma promotes

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Agata Leońska-Duniec, Zbigniew Jastrzębski, Aleksandra Zarębska, Wojciech Smółka and Paweł Cięszczyk

related to human obesity ( Loos et al., 2008 ). Genetic variants within the MC4R coding region have been found to be associated with severe and common forms of obesity in humans ( Hebebrand et al., 2010 ). Additionally, polymorphisms outside of the coding region have been associated with a predisposition to polygenic obesity. The non-coding variants of the MC4R probably influence MC4R expression, however, a molecular mechanism for the SNPs associations remains unclear ( Evans et al., 2014 ). Meta-analyses of genome-wide association studies (GWAS) conducted in