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Human Genetics

Human Genetics   Research Article

Deciphering the spectrum of somatic mutations in the entire mitochondrial DNA genome

Authors: X.Z. Chen, Y. Fang, Y.H. Shi, J.H. Cui, L.Y. Li, Y.C. Xu and B. Ling

The mitochondrion is a crucial intracellular organelle responsible for regulating cellular energy metabolism, producing free radicals, initiating and executing the apoptotic pathways. Previous studies have shown that somatic mutations in mitochondrial DNA are associated with various tumors, which may be involved during carcinogenesis and tumor progression.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.30.5
DOI:
http://dx.doi.org/10.4238/2015.April.30.5
Human Genetics   Research Article

Relation between prognosis and changes of MBP and S100B in premature infants with periventricular leukomalacia

Authors: R.Z. Huang, Y.J. Zhang, J.F. Zhang, Y.M. Su, L.Q. Peng and N. Ya

This study aims to explore the relation between changes in myelin basic protein (MBP) and S100 protein (S100B) serum levels and prognosis in premature infants with periventricular leukomalacia (PVL). In our hospital, 78 premature infants with PVL and 43 normal premature infants were studied from July 1, 2007 to December 31, 2008. MBP and S100B serum level.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.30.6
DOI:
http://dx.doi.org/10.4238/2015.April.30.6
Human Genetics   Research Article

Effect and mechanism of miR-126 in myocardial ischemia reperfusion

Authors: B. Li, Y. Tao and Q. Huang

Multiple studies have shown microRNAs to play an important role in disease occurrence and development. The role of miRNAs in ischemia-reperfusion injury, however, requires further investigation and the aim of this study was therefore to assess miR-126 expression in myocardial ischemia reperfusion and the effects of miR-126 on myocardial ischemia-reperfusi.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.6
DOI:
10.4238/2015.December.29.6
Human Genetics   Research Article

Shock wave treatment enhances endothelial proliferation via autocrine vascular endothelial growth factor

Authors: Y.Z. Peng, K. Zheng, P. Yang, Y. Wang, R.J. Li, L. Li, J.H. Pan and T. Guo

Extracorporeal cardiac shock wave (SW) therapy is an effective, safe, and non-invasive therapeutic strategy for severe coronary artery disease. Shock wave therapy might affect cardiac tissues because of its ability to promote angiogenesis. In this report, we investigated if the up-regulation of vascular endothelial growth factor (VEGF) by SW therapy is in.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.30
DOI:
10.4238/2015.December.29.30
Human Genetics   Research Article

Sevoflurane downregulates interleukin-6 and interleukin-8 levels in patients after cardiopulmonary bypass surgery: a meta-analysis

Authors: Q.B. Yu, H.M. Li, L.L. Li, S.Y. Wang and Y.B. Wu

This study aimed to investigate the effect of sevoflurane on serum levels of interleukin (IL)-6 and IL-8 in patients who underwent cardiopulmonary bypass (CPB). The strength of the association between sevoflurane treatment and serum level of IL-6 and IL-8 was determined in patients who underwent CPB by summary standard mean differences (SMDs); 95% confide.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.9
DOI:
10.4238/2015.December.29.9
Human Genetics   Research Article

Association between RAGE gene polymorphisms and ulcerative colitis susceptibility: a case-control study in a Chinese Han population

Authors: Z.T. Wang, L.Y. Wang, L. Wang, S. Cheng, R. Fan, J. Zhou and J. Zhong

Ulcerative colitis (UC) is an immune-related disease with genetic predisposition. The aim of this study was to investigate the association of three polymorphisms in the receptor for advanced glycation end-products (RAGE) gene with UC risk in a Chinese population. This case-control study involved 72 UC patients and 479 age- and gender-matched healthy contr.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.34
DOI:
10.4238/2015.December.29.34
Human Genetics   Research Article

Circulating miR-125b as a biomarker of Ewing�s sarcoma in Chinese children

Authors: C.L. Nie, W.H. Ren, Y. Ma, J.S. Xi and B. Han

Previous studies indicated that microRNA-125b (miR-125b) has an important role in the progression of Ewing’s sarcoma (ES). The purpose of the current study was to examine expression changes of miR-125b in the serum of ES patients and evaluate if the expression level of miR-125b could serve as a new biomarker for ES. This study was performed on patie.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.12
DOI:
10.4238/2015.December.29.12
Human Genetics   Research Article

Effect of polymorphisms of vascular endothelial growth factor on prognosis in osteosarcoma patients

Authors: X.D. Li, D.D. Yu, J.R. Lu, C. Wu and W.X. Jin

We investigated the association between vascular endothelial growth factor (VEGF) gene +1612G/A, -634C/G, and +936G/C and the clinical outcome of osteosarcoma. Genomic DNA was isolated from blood samples, and 3 VEGF gene polymorphisms (+1612G/A, -634C/G, and +936G/C) were analyzed using polymerase chain reaction-restriction fragment length polymorphism. O.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.30.8
DOI:
http://dx.doi.org/10.4238/2015.April.30.8
Human Genetics   Research Article

Association of SNPs in the PPAR�³ gene and hypertension in a Mongolian population

Authors: L. Yang, R.G. Tian, P.Y. Chang, M.R. Yan and X.L. Su

The association of single nucleotide polymorphisms (SNPs) in PPARγ with hypertension is controversial. The aim of the present study was to clarify the contributions of PPARγ genetic variants to hypertension through an association study. A total of 414 unrelated Mongolian herdsmen and 524 Han farmers were included in this study. Fourteen intron.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.39
DOI:
10.4238/2015.December.29.39
Human Genetics   Research Article

Glucocorticoid receptor gene (NR3C1) promoter is hypermethylated in Thai females with major depressive disorder

Authors: M. Nantharat, T. Wanitchanon, M. Amesbutr, R. Tammachote and V. Praphanphoj

Major depressive disorder (MDD) has been associated with the stress response in the brain, which is controlled by the hypothalamic-pituitary-adrenal (HPA) axis. This HPA negative feedback mechanism acts via the activation of glucocorticoid receptor, which is encoded by the NR3C1 gene. The methylation status at the promoter of NR3C1 has been correlated wit.. Read More»

Genet. Mol. Res. 14(4):
2015.December.29.15
DOI:
10.4238/2015.December.29.15