Human Genetics
A rare PAX6 mutation in a Chinese family with congenital aniridia
Authors: F. He, D.L. Liu, M.P. Chen, L. Liu, L. Lu, M. Ouyang, J. Yang, R. Gan and X.Y. Liu
Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reacti.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.29
- DOI:
- 10.4238/2015.October.26.29
Genetic polymorphisms and retinal vein occlusion in an Italian population
Authors: L. De Polo, P.E. Maltese, E. Rigoni, M. Bertelli, S. Cecchin, G. Staurenghi and G. Stoppa
In this study, we assessed the prevalence of polymorphisms in genes involved in hyperhomocysteinemia or hemostasis to shed light on their role, if any, in retinal vein occlusion (RVO). We recruited 37 Italian patients (17 men and 20 women) with a diagnosis of central or branch RVO based on fundus examination and retinal fluorescein angiography, as well as.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.30
- DOI:
- 10.4238/2015.October.26.30
Inhibition of invasion and migration of prostate cancer cells by miRNA-509-5p via targeting MDM2
Authors: X.M. Tian, Y.Z. Luo, P. He, J. Li, Z.W. Ma and Y. An
Prostate cancer is a common malignancy of the male reproductive-urinary system. MDM2 is an oncogene, whose expression can be regulated by microRNA (miRNA). The present study investigated the expression and correlation of miRNA-509-5p and MDM2 to determine the mechanism of their function in invasion and migration of prostate ca.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019195
- DOI:
- 10.4238/gmr16019195
Effects of Cx43 gene modification on the proliferation and migration of the human lung squamous carcinoma cell line NCI-H226
Authors: J.-P. Zang and R. Wei
In this study, the human lung squamous carcinoma cell line NCI-H226 was transfected with the recombinant plasmid pBudCE4.1_Cx43 to explore the role of the Cx43 gene in cell growth, cell cycle, and tumor migration. pBudCE4.1-Cx43 was transfected into human lung squamous carcinoma NCI-H226 cells using Lipofectamine TM2000. The mRNA and protein expressions o.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.7
- DOI:
- 10.4238/2015.October.26.7
A large-scale analysis study on the clinical and viral characteristics of hepatitis B infection with concurrence of hepatitis B surface or E antigens and their corresponding antibodies
Authors: Y. Xiang, P. Chen, J.R Xia and L.P. Zhang
Concurrent detection of hepatitis B surface antigen (HBsAg) and anti-HBs antibody or hepatitis B surface E antigen (HBeAg) and anti-HBe antibody in patients with chronic hepatitis B (CHB) infection is well established. However, the clinical implications of these proteins remain largely unknown. In this study, demographic, clin.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019102
- DOI:
- 10.4238/gmr16019102
Clinical significance of CD44 expression in children with hepatoblastoma
Authors: H.-Y. Cai, B. Yu, Z.-C. Feng, X. Qi and X.-J. Wei
The aim of this study was to investigate the expression of CD44 and its clinical significance in children suffering from hepatoblastoma (HB). CD44 expression was detected with immunohistochemistry staining in 30 samples from hepatoblastoma children and 10 normal liver tissue samples from normal children. The data obtained was statistically analyzed using .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.26.16
- DOI:
- 10.4238/2015.October.26.16
Polymorphisms in interleukin-6 and interleukin-10 may be associated with risk of preeclampsia
Authors: D.M. Fan, Y. Wang, X.L. Liu, A. Zhang and Q. Xu
Preeclampsia is a common condition unique to pregnant women. Previous studies have suggested that several cytokines may contribute to defective placental invasion and endothelial damage in this condition. We investigated the influence of four single nucleotide polymorphisms (SNPs) in the promoters of IL-6 (-572G/C, -597G/A, an.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16018588
- DOI:
- 10.4238/gmr16018588
C3435T polymorphism of the MDR1 gene is not associated with blood levels of hypothalamus-pituitary-adrenal axis hormones in healthy male subjects
Authors: A. Suzuki, Y. Matsumoto, T. Shirata, K. Goto, M. Enokido, K. Otani
In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 ge.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019447
- DOI:
- 10.4238/gmr16019447
Expression of the stem cell factor in fibroblasts, endothelial cells, and macrophages in periapical tissues in human chronic periapical diseases
Authors: S.Q. Shen, R. Wang and S.G. Huang
Stem cell factor (SCF), an important stem cell cytokine, has multiple functions. Fibroblasts (FBs), mature mast cells, endothelial cells (ECs), and eosinophil granulocytes can produce SCF in the inflammatory process. Therefore, we aimed to observe SCF expression in FBs, ECs, and macrophages (MPs) in periapical tissues in human.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019394
- DOI:
- 10.4238/gmr16019394
MiR-214 regulates oral cancer KB cell apoptosis through targeting RASSF5
Authors: T.K. Li, K. Yin, Z. Chen, Y. Bao and S.X. Zhang
Ras association domain family member 5 (RASSF5), a member of the Ras association domain family, induces cell apoptosis by phosphorylating FOXO3a, which triggers target gene BIM (pro-apoptotic factor) activation. MiR-214 is overexpressed in oral cancer tissue, indicating its possible involvement in oral cancer pathogenesis. Bio.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019327
- DOI:
- 10.4238/gmr16019327