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Human Genetics

Human Genetics   Research Article

Mitochondrial DNA haplogroups and somatic mutations are associated with lung cancer in patients from Southwest China

Authors: Y. Fang, H.Y. Yang, Y.H. Shi, J.H. Cui, L.Y. Li, Y.C. Xu and J.L. Shao

Mitochondrial DNA mutations play crucial roles in the pathogenesis and progression of human malignancies. Therefore, to determine whether maternal background or mitochondrial DNA somatic mutations were essential cofactorsin the lung cancer of Chinese patients as well, the complete mitochondrial DNA displacement loop of the primary cancerous, matched para-.. Read More»

Genet. Mol. Res. 14(2):
2015.May.12.6
DOI:
10.4238/2015.May.12.6
Human Genetics   Research Article

Upregulation of fibroblast growth factor 1 in the synovial membranes of patients with late stage osteoarthritis

Authors: R. Li, B. Wang, C.Q. He, Y.Q. Yang, H. Guo, Y. Chen and T.H. Du

Osteoarthritis (OA) is a degenerative disease of the systemic joint that involves multiple cytokines and growth factors. Fibroblast growth factor 1 (FGF-1) is increased in patients with rheumatic arthritis. The aim of this study was to determine whether the expression and secretion of FGF-1 differed in synovial tissue from patients with late stage OA from.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.13
DOI:
http://dx.doi.org/10.4238/2015.September.22.13
Human Genetics   Research Article

Effects of icariin on the expression of ER, VEGF, and KDR in the endometrial cells of thin endometrium

Authors: A.W. Le, L. Shan, Z.H. Wang, X.Y. Dai, T.H. Xiao and R. Zuo

We explored the effects of icariin on the expression of estrogen receptor (ER), vascular endothelial growth factor (VEGF), and kinase insert domain receptor (KDR) in the endometrial cells of the thin endometrium. Primary endometrial cells were obtained and divided into a blank control group, a high-, a middle-, and a low-dose icariin groups, as well as an.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.19
DOI:
http://dx.doi.org/10.4238/2015.September.22.19
Human Genetics   Research Article

Association between the Val34Leu polymorphism in blood coagulation factor XIII-A and intracerebral hemorrhage: a meta-analysis

Authors: X. Ye and B. Ye

Although the Val34Leu polymorphism in blood coagulation factor XIII-A (FXIII-A) has been implicated in the pathogenesis of intracerebral hemorrhage (ICH), the results of research conducted thus far have been inconclusive. In this meta-analysis, we have assessed the association between the FXIII-A Val34Leu polymorphism and ICH risk. Published reports perta.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038327
DOI:
10.4238/gmr.15038327
Human Genetics   Research Article

The ratio of transforming growth factor-�²1/bone morphogenetic protein-7 in the progression of the epithelial-mesenchymal transition contributes to rat liver fibrosis

Authors: W.R. Bi, G.T. Xu, L.X. Lv and C.Q. Yang

This study was designed to show whether rat liver epithelial cells could undergo epithelial-mesenchymal transition (EMT), thereby directly contributing to liver fibrosis. The role of the ratio of transforming growth factor-β1 (TGF-β1)/bone morphogenetic protein-7 (BMP-7) was evaluated in the progression of EMT or mes.. Read More»

Genet. Mol. Res. 13(1):
2014.February.20.2
DOI:
10.4238/2014.February.20.2
Human Genetics   Research Article

MicroRNAs function primarily in the pathogenesis of human anencephalyvia the mitogen-activated protein kinase signaling pathway

Authors: W.D. Zhang, X. Yu, X. Fu, S. Huang, S.J. Jin, Q. Ning and X.P. Luo

Anencephaly is one of the most serious forms of neural tube defects (NTDs), a group of congenital central nervous system (CNS) malformations. MicroRNAs (miRNAs) are involved in diverse biological processes via the post-transcriptional regulation of target mRNAs. Although miRNAs play important roles in the development of mammal.. Read More»

Genet. Mol. Res. 13(1):
2014.February.20.3
DOI:
10.4238/2014.February.20.3
Human Genetics   Research Article

Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients

Authors: M. Katar, A.F. Ozugurlu, H. Ozyurt and I. Benli

Celiac disease (CD) is a multifactorial, inflammatory small bowel disorder characterized by nutrient malabsorption resulting from mucosal damage, the latter induced by cereal products like barley, oat, and wheat. Oxidative stress has previously been reported to play an important role in the pathogenesis of CD. In the present s.. Read More»

Genet. Mol. Res. 13(1):
http://dx.doi.org/2014.February.20.4
DOI:
http://dx.doi.org/10.4238/2014.February.20.4
Human Genetics   Research Article

hBMP-7 induces the differentiation of adipose-derived mesenchymal stem cells into osteoblast-like cells

Authors: Y. Ren, C. Han, J. Wang, Y. Jia, L. Kong, T. Eerdun, L. Wu and D. Jiang

The aim of this study was to investigate the differentiation potential of adipose-derived mesenchymal stem cells (ADMSCs) into osteoblasts by human bone morphogenetic protein-7 (hBMP-7) induction. ADMSCs were isolated from the subcutaneous adipose tissue of a rabbit, and then transfected with the pcDNA3.1 vector alone and pcDNA3.1-hBMP-7 (hBMP-7), respect.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038791
DOI:
10.4238/gmr.15038791
Human Genetics   Research Article

Tumor necrosis factor receptor-II nt587 polymorphism in Chinese Han patients with ankylosing spondylitis

Authors: X. Li, M. Wang, R. Ma, T. Zhang, J. Liu, J.W. Chen and W. Peng

We aimed to explore the association between the onset of ankylosing spondylitis (AS) and nt587 polymorphisms of the tumor necrosis factor receptor II (TNFRII) gene in the Han population of Hunan Province, China. Correlation analysis was performed in a case-control study involving 100 AS cases and 100 healthy controls. The nt58.. Read More»

Genet. Mol. Res. 13(3):
2014.July.7.12
DOI:
10.4238/2014.July.7.12
Human Genetics   Research Article

KCNQ1 A340E impairs electrolyte homeostasis independently of the renin-angiotensin-aldosterone system in mice

Authors: Q. Pan, Y. Sang, C. Sun, G. Li and Y. Wang

KCNQ1 (KvLQT1) is the pore-forming a-subunit of the potassium channel. To uncover its role in electrolyte metabolism, we investigated the effects of KCNQ1 A340E, a loss-of-function mutant, on J343 mice. Compared with the normal controls (C57BL/6J mice) bearing the wild-type KCNQ1 gene, J343 mice bearing KCNQ1 A340E demonstrated a much higher 24-h intake o.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038802
DOI:
10.4238/gmr.15038802