Human Genetics
Three-dimensional visualization of human hemoglobin phenotypes with HPLC
Authors: L.M. Storti-Melo P.H. Mangonaro C.R. Val�ªncio C. Traina Junior C.R.B. Domingos
Hemoglobinopathies were included in the Brazilian Neonatal Screening Program on June 6, 2001. Automated high-performance liquid chromatography (HPLC) was indicated as one of the diagnostic methods. The amount of information generated by these systems is immense, and the behavior of groups cannot always be observed in individua.. Read More»
- Genet. Mol. Res. 8(1):
- vol8-1gmr530
- DOI:
- 10.4238/vol8-1gmr530
Role of single nucleotide polymorphisms of DNA repair genes in susceptibility to pancreatic cancer in Chinese population
Authors: M.F. Ying and R. Zhao
We conducted a case-control study to investigate the role of ERCC1-ERCC5 gene polymorphisms in the risk of pancreatic cancer. This study included 195 patients who were newly diagnosed with histopathologically confirmed primary pancreatic cancer, and 254 controls were recruited from Sir Run Run Shaw Hospital, between January 2012 and December 2014. Genotyp.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017273
- DOI:
- 10.4238/gmr.15017273
Association of TUSC3 gene polymorphisms with non-syndromic mental retardation based on nuclear families in the Qinba mountain area of China
Authors: M.J. Zhang, L.X. Xing, M. Cui, X. Yang, J.G. Shi, J. Li, K.J. Zhang, Z.J. Zheng, F.C. Zhang, J.L. Li and X.C. Gao1,3
TUSC3 interacts with the protein phosphatase 1 and magnesium ion transport system, which plays an important role in learning and memory. Abnormal conditions of learning and memory are common clinical characteristics of mental retardation (MR). However, the association of TUSC3 genetic polymorphisms with MR remains unknown. A total of 456 DNA samples inclu.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.12.5
- DOI:
- 10.4238/2015.May.12.5
Roles of osteocyte apoptosis in steroid-induced avascular necrosis of the femoral head
Authors: R. Bai1*, W. Feng2*, W.L. Liu1, Z.H.Q. Zhao1, A.Q. Zhao1, Y. Wang1, W.X. Wang1, L. Sun1, L.S.H. Wu1 and S.H.X. Cui1
An animal model of steroid-induced avascular necrosis of the femoral head (SANFH) was established to investigate the roles of osteocyte apoptosis in this process. Forty five-month-old male and female Japanese white rabbits were randomly divided into groups A (hormone + endotoxin), B (hormone alone), C (endotoxin alone), and D (blank control). Animals were.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017529
- DOI:
- 10.4238/gmr.15017529
Differentiation of bone mesenchymal stem cells into hepatocyte-like cells induced by liver tissue homogenate
Authors: X.K. Xing, H.G. Feng and Z.Q. Yuan
This study investigated the efficacy and feasibility of inducing the differentiation of bone marrow-derived mesenchymal stem cells (BMSCs) into hepatocyte-like cells in vitro using Sprague Dawley rats, as a model of hepatocyte generation for cell transplantation. BMSCs were isolated and grown using the adherent method and exposed to 5 or 10% liver tissue .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038550
- DOI:
- 10.4238/gmr.15038550
Protein tyrosine kinase regulates �±-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking induced by acute hypoxia in cultured brainstem neurons
Authors: H. Wang, L.C. Yu and Y.C. Li
This study was performed to investigate the modulation effect of protein tyrosine kinase on postsynaptic a-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking induced by acute hypoxia in cultured brainstem neurons. The cultured neurons were exposed to 1% O2 and the expression of AMPA receptor subunit GluR2 on the cell surface wa.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038797
- DOI:
- 10.4238/gmr.15038797
Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers
Authors: L.-L. Li, Y. Dong, R.-X. Wang, N. An, X. Yun and R.-Z. Liu
A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse re.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.12.3
- DOI:
- 10.4238/2015.May.12.3
Glutathione S-transferase pi polymorphism contributes to the treatment outcomes of advanced non-small cell lung cancer patients in a Chinese population
Authors: J.B. Chen, F. Wang, J.J. Wu and M. Cai
We analyzed the association between polymorphisms in three glutathione S-transferase genes (GSTP1, GSTM1, and GSTT1) and the treatment outcome for advanced non-small cell lung cancer (NSCLC). We recruited 284 NSCLC patients at advanced stage from Department of Radiotherapy in Peace Hospital Attached to Changzhi Medical College between May 2009 and May 201.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037498
- DOI:
- 10.4238/gmr.15037498
MRP1 polymorphisms (T2684C, C2007T, C2012T, and C2665T) are not associated with multidrug resistance in leukemic patients
Authors: F. Mahjoubi, S. Akbari, M. Montazeri and F. Moshyri
One of the main problems in treating cancer patients is that cancer cells can develop drug resistance. Resistance to multiple anticancer drugs, so called multidrug resistance (MDR), most likely involves a nonspecific mode of resistance, through drug-efflux transporters. One of the most extensively studied genes involved in MDR is multidrug resistance prot.. Read More»
- Genet. Mol. Res. 7(4):
- vol7-4gmr482
- DOI:
- 10.4238/vol7-4gmr482
Association between Toll-like receptor 9 gene polymorphisms and risk of bacterial meningitis in a Chinese population
Authors: X.H. Wang, H.P. Shi and F.J. Li
We determined whether two common single nucleotide polymorphisms (SNPs) in the Toll-like receptor 9 gene (TLR9) (TLR9+2848 rs352140 and TLR9-1237 rs5743836) influenced susceptibility to bacterial meningitis in a Chinese population. The study comprised 126 patients with bacterial meningitis and 252 control subjects, all of whom were recruited from the Tube.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037641
- DOI:
- 10.4238/gmr.15037641