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Human Genetics

Human Genetics   Research Article

Expression and effect of serum interleukin-24 level on bone marrow mononuclear cells in children with acute leukemia

Authors: H.R. Cheng, B.Q. Wu, L. Chen, Z.X. Zhang and B. Li

To investigate the expression of interleukin-24 (IL-24) in the children with acute leukemia (AL) and its effect on the apoptosis of bone marrow mononuclear cells (BMMNCs) in vitro. Four groups were assessed: acute lymphocytic leukemia (ALL), acute myeloid leukemia (AML), non-leukemia, and healthy groups, 20 children in each group. ELISA was used to measur.. Read More»

Genet. Mol. Res. 14(4):
2015.December.16.28
DOI:
10.4238/2015.December.16.28
Human Genetics   Research Article

Associations between HIF-1�± polymorphisms C1772T and G1790A and susceptibility to chronic obstructive pulmonary disease

Authors: W.T. Wei, B. Li, M. Chen, H.R. Jia and H.X. Zhang

In the present study, we examined whether hypoxia-inducible factor-1α (HIF-1α) polymorphisms are associated with the susceptibility to chronic obstructive pulmonary disease (COPD). One hundred and twenty patients with COPD and 112 healthy controls were recruited from the Han population in Southern China. Polymerase chain reaction-restriction f.. Read More»

Genet. Mol. Res. 14(4):
2015.December.21.2
DOI:
10.4238/2015.December.21.2
Human Genetics   Research Article

Investigating paraoxonase-1 gene Q192R and L55M polymorphism in patients with renal cell cancer

Authors: O.A. Uyar, M. Kara, D. Erol, A. Ardicoglu and H. Yuce

Increased oxidative stress can help promote carcinogenesis, including development of renal cell carcinoma. The enzyme protects low-density lipoproteins from oxidation and can be a factor in this process. PON1 Q192R and L55M paraoxonase gene polymorphisms were assessed in 60 renal cell carcinoma patients and 60 healthy controls.. Read More»

Genet. Mol. Res. 10(1):
vol10-1gmr927
DOI:
10.4238/vol10-1gmr927
Human Genetics   Research Article

Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer

Authors: Y. Dodurga, C. Tataroglu, Z. Kesen and N.L. Satiroglu-Tufan

Bladder cancer is the most frequent cancer of the urinary system. Fibroblast growth factor receptors (FGFR) belong to the tyrosine kinase family and have important roles in cell differentiation and proliferation and embryogenesis. FGFR3 is located on chromosome 4p16.3, and missense mutations of FGFR3 are associated with autoso.. Read More»

Genet. Mol. Res. 10(1):
vol10-1gmr923
DOI:
10.4238/vol10-1gmr923
Human Genetics   Research Article

Effect of TIMP1 transfection on PTEN expression in human kidney proximal tubular cells

Authors: J.X. Chen, G.Y. Cai, X.M. Chen, H. Liu, X. Chen, Y.M. Peng, F.Y. Liu, Z. Li and S.Z. Shi

To explore the role of metalloproteinase-1 (TIMP-1) tissue inhibitor in the mechanisms of kidney aging, we observed the effects of sense and antisense transfection of TIMP-1 and of metalloproteinase (MMP) inhibitors on phosphatase and tensin homolog (PTEN), vascular endothelial growth factor (VEGF), and Flk-1 expression in TIMP-1 transgenic human proximal.. Read More»

Genet. Mol. Res. 14(4):
2015.December.21.6
DOI:
10.4238/2015.December.21.6
Human Genetics   Case Reports

A novel TSC1 mutation (c.1964delA) in a Chinese patient with tuberous sclerosis complex

Authors: G.-X. Wang, D.-W. Wang, J.-S. Zhao, S.-F. Wang and R.-P. Sun

Tuberous sclerosis complex is an autosomal-dominant heritable disease caused by mutations in the TSC1 and TSC2 genes. We studied a Chinese patient with sporadic tuberous sclerosis complex. The clinical features of this patient included epilepsy, hypomelanotic macules and angiofibromas on his back; a cranial CT scan showed sube.. Read More»

Genet. Mol. Res. 10(1):
vol10-1gmr977
DOI:
10.4238/vol10-1gmr977
Human Genetics   Research Article

Hypoxia-induced apoptosis and mitochondrial dysfunction in chondrocytes arising from CREB phosphorylation reduction

Authors: Y.Y. Qiu, Y. Chen, T.H. Zeng, W.H. Guo, W.Y. Zhou and X.J. Yang

Chondrocytes, which are embedded within the growth-plate or the intervertebral disc, are sensitive to environmental stresses, such as inflammation and hypoxia. However, little is known about the molecular signaling pathways underlying hypoxia-induced mitochondrial dysfunction and apoptosis in chondrocytes. We first examined th.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027755
DOI:
10.4238/gmr.15027755
Human Genetics   Research Article

Lack of association between ERCC5 gene polymorphisms and gastric cancer risk in a Chinese population

Authors: J.J. Lu, H.Q. Zhang, P. Mai, X. Ma, X. Chen, Y.X. Yang and L.P. Zhang

We conducted a case-control study to assess the association between single nucleotide polymorphisms in the ERCC5 promoter (rs2094258 and rs751402) and development of gastric cancer in a Chinese population. This investigation included 184 patients with pathologically diagnosed gastric cancer and 206 healthy subjects recruited b.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027779
DOI:
10.4238/gmr.15027779
Human Genetics   Research Article

Receptor for advanced glycation end-products (RAGE) is overexpressed in human osteosarcoma and promotes the proliferation of osteosarcoma U-2OS cells in vitro

Authors: Q. Zhang, Y. Jin, C.F. Zhao, W.J. Wang and G.Y. Liu

Osteosarcoma (OS) is an aggressive cancer of the long bones, and usually affects children and young adults. The receptor for advanced glycation end-products (RAGE) has recently been recognized as an oncogenic receptor that binds to different ligands, and promotes the progression of various cancers. However, little is known abo.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027817
DOI:
10.4238/gmr.15027817
Human Genetics   Research Article

Aldehyde dehydrogenase 2 protects human umbilical vein endothelial cells against oxidative damage and increases endothelial nitric oxide production to reverse nitroglycerin tolerance

Authors: X.Y. Hu, Q. Fang, D. Ma, L. Jiang, Y. Yang, J. Sun, C. Yang and J.S. Wang

Medical nitroglycerin (glyceryl trinitrate, GTN) use is limited principally by tolerance typified by a decrease in nitric oxide (NO) produced by biotransformation. Such tolerance may lead to endothelial dysfunction by inducing oxidative stress. In vivo studies have demonstrated that aldehyde dehydrogenase 2 (ALDH2) plays impor.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027822
DOI:
10.4238/gmr.15027822