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Human Genetics

Human Genetics   Research Article

Effect of MDR1 polymorphism on multidrug resistance expression in breast cancer patients

Authors: M. Taheri, F. Mahjoubi and R. Omranipour

One of the limitations in the treatment of cancer patients with chemotherapy is the development of multidrug resistance (MDR). A well-known mechanism responsible for drug resistance is over-expression of ABC-transporter genes such as MDR1. This gene encodes p-glycoprotein (P-gp), a transmembrane glycoprotein that transports ma.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr669
DOI:
10.4238/vol9-1gmr669
Human Genetics   Research Article

Skeletal muscle calcium channel ryanodine and the development of pale, soft, and exudative meat in poultry

Authors: F.G. Pai�£o, L.M. Ferracin, M. Pedr�£o, T. Kato and M. Shimokomaki

The development of pale, soft, and exudative (PSE) breast fillet meat has become an economic burden for the poultry industry worldwide. PSE meat results in 1.0-1.5% loss in moisture and carcass weight, and a 2010 estimate of the Brazilian annual production put the economic loss due to PSE at over US$30 million. In the USA, PSE has caused an annual loss of.. Read More»

Genet. Mol. Res. 12(3):
2013.August.20.3
DOI:
10.4238/2013.August.20.3
Human Genetics   Research Article

Association between the -1438A/G polymorphism of the serotonin 2A receptor gene and late-onset psoriasis in a Thai population

Authors: C. Ronpirin, T. Tencomnao and J. Wongpiyabovorn

Expression of serotonin 2A receptor (5-HTR2A) is known to increase in psoriasis, a chronic inflammatory skin disease. We investigated a possible association between the -1438A/G single nucleotide polymorphism (rs6311) in the promoter region of 5-HTR2A gene and psoriasis in a Thai population. One hundred and twelve psoriatic pa.. Read More»

Genet. Mol. Res. 9(1):
vol9-1gmr718
DOI:
10.4238/vol9-1gmr718
Human Genetics   Research Article

Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta

Authors: C. Barbirato, M. Trancozo, M.R.G.O. Rebou�§as, V. Sipolatti, V.R.R. Nunes and F. Paula

Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038665
DOI:
10.4238/gmr.15038665
Human Genetics   Research Article

Effect of cyclosporin A particles of varying diameters on gastric cancer cell apoptosis

Authors: X.L. Xing, Y. Lu and H.L. Qiu

Human health is significantly threatened by gastric cancer, which is the most common malignant tumor; although drastic, surgery is currently the only way to cure it. However, high recurrence rates and low survival rates are associated with the disease. Therefore, to improve the effectiveness of gastric cancer treatment and to .. Read More»

Genet. Mol. Res. 15(2):
gmr.15028085
DOI:
10.4238/gmr.15028085
Human Genetics   Research Article

CYP1A2-163C/A (rs762551) polymorphism and bladder cancer risk: a case-control study

Authors: Y.L. Song, L. Wang, J.C. Ren and Z.H. Xu

To date, no study has investigated the association between CYP1A2-163C/A polymorphism and bladder cancer risk in a Chinese population. Here, we extracted genomic DNA from peripheral white blood cells, and differentiated CYP1A2 alleles by polymerase chain reaction-based restriction fragment length polymorphism methods. Differen.. Read More»

Genet. Mol. Res. 15(2):
gmr.15026298
DOI:
10.4238/gmr.15026298
Human Genetics   Research Article

Relationship between NRAMP1 gene polymorphism and efficacy of BCG vaccine in a helminth-infected population

Authors: A.A. Badawy, R.S. Yahya, S.I. Awad, G.A. Al-Sawah and N.A. Kizilbash

Infection of mothers with schistosomiasis and filariasis has been shown to influence infant responses to neonatal Bacille Calmette-Guérin (BCG) immunization. The genetic makeup of infants is also considered an important determinant for the activity of BCG vaccine. The effect of natural resistance-associated macrophage protein 1 (NRAMP1) gene polymo.. Read More»

Genet. Mol. Res. 12(3):
2013.January.30.4
DOI:
10.4238/2013.January.30.4
Human Genetics   Research Article

Genetic variability of ERCC1 and ERCC2 genes involved in the nucleotide excision repair pathway influences the treatment outcome of gastric cancer

Authors: D.L. Zheng, G.D. Tang, Y.N. Chen, T. Zhang and M.B. Qin

We conducted a prospective study to investigate whether ERCC1 rs11615 and rs3212986 and ERCC2 rs13181 and rs1799793 gene polymorphisms could serve as potential biomarkers for the prognosis of gastric cancer. Between January 2010 and December 2012, 246 patients with pathologically proven gastric cancer who were receiving platin.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027384
DOI:
10.4238/gmr.15027384
Human Genetics   Research Article

Polymorphisms and allele frequencies of glutathione S-transferases A1 and P1 genes in the Polish population

Authors: M. Skrzypczak-Zielinska, O. Zakerska-Banaszak, B. Tamowicz,I. Sobieraj, N. Drweska-Matelska, M. Szalata, R. Slomski and A. Mikstacki

Glutathione S-transferases (GST) A1 and P1 are crucial enzymes involved in the biotransformation of drugs, carcinogens, and toxins, and their activity may influence drug response, susceptibility to diseases, and carcinogenesis. The genes encoding these enzymes, GSTA1 and GSTP1, have been examined in many studies because of their genetic variability, which.. Read More»

Genet. Mol. Res. 14(1):
2015.March.31.15
DOI:
10.4238/2015.March.31.15
Human Genetics   Research Article

TCF7L2 gene polymorphisms and susceptibility to breast cancer: a meta-analysis

Authors: X.P. Lu, G.N. Hu, J.Q. Du and H.Q. Li

Numerous studies have evaluated the association between TCF7L2 gene polymorphisms (rs12255372 and rs7903146) and breast cancer risk. However, the results have been inconsistent. Therefore, in the current study, we performed a meta-analysis. A systematically literature search of the PubMed and EMBASE databases was conducted in November 2013, and the refere.. Read More»

Genet. Mol. Res. 14(1):
2015.March.31.16
DOI:
10.4238/2015.March.31.16