Human Genetics

Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females

Authors: B.E. Guti�©rrez-Amavizca, R. Orozco-Castellanos, J. R. Padilla-Guti�©rrez, Y. Valle and L.E. Figuera

Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pat.. Read More»

Genet. Mol. Res. 13(3):

2014.August.28.19

DOI:

10.4238/2014.August.28.19

Association between interleukin-17 gene polymorphisms and the risk of laryngeal cancer in a Chinese population

Authors: F.Z. Si, Y.Q. Feng and M. Han

IL-17 is associated with the occurrence and development of laryngeal cancer. However, no study has reported the association between IL-17 polymorphisms and laryngeal cancer susceptibility. Therefore, we analyzed the association of three polymorphism loci (rs2275913, 197 G/A; rs3748067, 383 A/G; and rs763780, 7488 T/C) of IL-17.. Read More»

Genet. Mol. Res. 16(1):

gmr16019076

DOI:

10.4238/gmr16019076

Contribution of Maistro et al. in Genetics and Molecular Research

Authors: J. Reichling, K. Kraft, R. Gome, O. Kelber and T. Wegener

Genet. Mol. Res. 10(2):

vol10-2gmr1445

DOI:

10.4238/vol10-2gmr1445

Inhibitory effect of survivin-targeting small interfering RNA on gastric cancer cells

Authors: Y.H. Li, M. Chen, M. Zhang, X.Q. Zhang, S. Zhang, C.G. Yu, Z.M. Xu and X.P. Zou

A pair of inverted repeated sequences of the gene survivin was designed for stable double-stranded RNA establishment. After stable transfection, the biological behaviors of gastric cancer cells were observed. The interference rates of survivin-targeting siRNA (siRNA-survivin) in BGC823, MKN45, SGC7901, and ci.. Read More»

Genet. Mol. Res. 13(3):

2014.August.28.22

DOI:

10.4238/2014.August.28.22

Genetic variation in ERCC1 and XPF genes and breast cancer risk

Authors: X.H. Pei, Z. Yang, X.Q. Lv, and H.X. Li,

Breast cancer is one of the most frequently diagnosed cancer in women worldwide, and we conducted a case-control study by genotyping seven potentially functional SNPs, three in ERCC1 and four in XPF, in a Chinese population of 417 breast cancer cases and 417 cancer-free controls. Three SNPs in ERCC1 and four SNPs in XPF were g.. Read More»

Genet. Mol. Res. 13(1):

2014.March.31.6

DOI:

10.4238/2014.March.31.6

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rg gene novel mutation

Authors: Q.L. Bai, N. Liu, X.D. Kong, X.J. Xu and Z.H. Zhao

We investigated the feasibility of interleukin-2 receptor gamma (IL2Rg) gene based on gene mutation analysis and prenatal diagnosis of X-linked severe combined immunodeficiency (XSCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rg gene sequences of the 2 families were analyzed using bi-direct.. Read More»

Genet. Mol. Res. 14(2):

2015.June.9.2

DOI:

10.4238/2015.June.9.2

Analysis of the GSTM1-null polymorphism in patients with pterygium from Goi�¢nia, Goi�¡s Brazil

Authors: A. de P.R. J�ºnior, G.M. dos Reis, K.S.F. e Silva, D.A. Rodrigues, M.C.S. Gomes, J.V.M. Martins, I.R. da Costa, G.A. Freitas and K.K.V.O. Moura

The first reports about pterygium date back to Hippocrates, and this disease still threatens vision health around the world. Pterygium is a formation of fibrous tissue consisting of highly vascularized epithelial and subepithelial tissue that grows excessively and with an abnormal shape on the cornea. Many physical and biological factors are associated wi.. Read More»

Genet. Mol. Res. 14(2):

2015.June.9.3

DOI:

10.4238/2015.June.9.3

Pterygium in patients from Goi�¢nia, Goi�¡s, Brazi

Authors: G.M. dos Reis, A. de P.R. J�ºnior, K.S.F. e Silva, D.A. Rodrigues,M.C.S. Gomes, J.V.M. Martins, I.R. da Costa, G.A. Freitas andK.K.O. Moura

Pterygium is an inflammatory and degenerative ocular surface disease in which the conjunctiva on the cornea grows to form a fibrous tissue in the shape of a triangle. The disorder may be characterized by cell proliferation, inflammatory processes, fibrosis, angiogenesis, and destruction of the extracellular matrix. The anomaly is considered a degenerative.. Read More»

Genet. Mol. Res. 14(2):

2015.June.9.4

DOI:

10.4238/2015.June.9.4

Prognostic significance of tumor-associated macrophage infiltration in gastric cancer: a meta-analysis

Authors: X.L. Wang, J.T. Jiang and C.P. Wu

Tumor-associated macrophages (TAMs), which play a crucial role in the tumor microenvironment, can be divided into M1 and M2 phenotypes, these phenotypes may exert opposite effects on the prognoses of patients with gastric cancer (GC). The association between TAMs and GC is contentious. Thus, a meta-analysis of 12 studies (inco.. Read More»

Genet. Mol. Res. 15(4):

gmr15049040

DOI:

10.4238/gmr15049040

Protective effects of hydrogen-rich medium on lipopolysaccharide-induced monocytic adhesion and vascular endothelial permeability through regulation of vascular endothelial cadherin

Authors: Y. Yu, W.N. Wang, H.Z. Han, K.L. Xie, G.L. Wang and Y.H. Yu

We observed the effect of hydrogen-rich medium on lipopolysaccharide (LPS)-induced human umbilical vein endothelial cells (HUVECs), hyaline leukocyte conglutination, and permeability of the endothelium. Endotheliocytes were inoculated on 6-well plates and randomly divided into 4 groups: control, H2 , LPS, LPS+H2 , H2 , and LPS+H2 in saturated hydrogen-ri.. Read More»

Genet. Mol. Res. 14(2):

2015.June.9.6

DOI:

10.4238/2015.June.9.6