Medical Genetics
A66G and C524T polymorphisms of the methionine synthase reductase gene are associated with congenital heart defects in the Chinese Han population
Authors: W. Zeng, L. Liu, Y. Tong, H.M. Liu, L. Dai and M. Mao
Congenital heart defects (CHDs) are the most common birth defects; genes involved in homocysteine/folate metabolism may play important roles in CHDs. Methionine synthase reductase (MTRR) is one of the key regulatory enzymes involved in the metabolic pathway of homocysteine. We investigated whether two polymorphisms (A66G and C.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.October.25.7
- DOI:
- 10.4238/2011.October.25.7
Hepatocyte growth factor upregulates nexilin gene expression in cardiomyocytes via JNK pathway
Authors: C. Wang, X. You, C. Jiang, C. Jin, X. Meng and D. Ding
Hepatocyte growth factor (HGF) is a protective factor in myocardial injury, but its mechanisms of action have not yet been fully elucidated. Nexilin, which locates specifically to the Z-disc, is a novel Z-disc protein that enables the Z-discs to persistently withstand the extreme mechanical forces generated during muscle contraction. Therefore, we investi.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.4.12
- DOI:
- 10.4238/2014.July.4.12
Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey
Authors: S. Sahin, L. Aydogan, I. Benli and H. Ozyurt
We analyzed distribution of HLA-B27 and CYP2D6*4 mutations in 249 patients from Tokat province in Turkey with symptoms of arthritis, sacroiliac, joint and back pain, using a LightCycler 480 II Real-Time PCR thermal cycler. The Genes-4U was applied for studying HLA-B27 mutation, and the Tib-Molbiol commercial kit was used to ex.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.2.3
- DOI:
- 10.4238/2011.December.2.3
Association between miR-137 polymorphism and risk of schizophrenia: a meta-analysis
Authors: M.L. Ou, G. Liu, D. Xiao, B.H. Zhang, C.C. Guo, X.G. Ye, Y. Liu, N. Zhang, M. Wang, Y.J. Han, X.H. Ye, C.X. Jing and G. Yang
miR-137, a brain-enriched microRNA, is involved in the control of neuronal proliferation, differentiation, and dendritic arborization, all of which are important for proper neurogenesis and relevant to schizophrenia. miR-137 is also known to regulate many genes implicated in schizophrenia risk. Although reports have associated the miR-137 polymorphism rs1.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038703
- DOI:
- 10.4238/gmr.15038703
An improved DNA marker technique for genetic characterization using RAMP-PCR with high-GC primers
Authors: C.L. Wei, J.L. Cheng, M.A. Khan, L.Q. Yang, S. Imani, H.C. Chen and J.J. Fu
Random amplified polymorphic DNA (RAPD) is a widely used molecular marker technique. As traditional RAPD has poor reproducibility and productivity, we previously developed an improved RAPD method (termed RAMP-PCR), which increased the reproducibility, number of bands, and efficiency of studies on polymorphism. To further develop the efficiency of this met.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038721
- DOI:
- 10.4238/gmr.15038721
Novel mutations in the FUCA1 gene that cause fucosidosis
Authors: W. Panmontha1, P. Amarinthnukrowh, P. Damrongphol, T. Desudchit, K. Suphapeetiporn and V. Shotelersuk
Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutation.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038733
- DOI:
- 10.4238/gmr.15038733
Pleural resection and pleural infusion chemotherapy for therapy of malignant pleural mesothelioma
Authors: J. Zhang, Q. Zhang, W. Zhao, J. Duan and T. Huang
The aim of this study was to evaluate effective treatment methods of malignant pleural mesothelioma (MPM). Twenty-three patients with MPM were cured by pleural infusion chemotherapy after surgery. Median survival time and the 1-, 2-, and 3-year survival rates were analyzed on the basis of follow-up. Median survival time of all.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.17
- DOI:
- 10.4238/2014.January.21.17
Association of a CYP4A11 polymorphism and hypertension in the Mongolian and Han populations of China
Authors: J.Q. Liang, M.R. Yan, L. Yang, Q. Suyila, H.W. Cui and X.L. Su
Human cytochrome P450 4A11 (CYP4A11) plays a role in the regulation of blood pressure through the conversion of arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE). We therefore investigated the association between a CYP4A11 polymorphism (rs9333025) with hypertension in the Mongolian and Han ethnic groups. We studi.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.20
- DOI:
- 10.4238/2014.January.21.20
Study on serum proteomic features in patients with and without recurrence or metastasis after surgical resection of esophageal carcinoma
Authors: G.B. Zheng, C.F. Gao, X.L. Wang, G. Zhao and D.H. Li
The purpose of this study was to identify specific biomarkers for recurrence or metastasis of esophageal carcinoma in serum of patients subjected to esophagectomy. Surface-enhanced laser desorption/ionization time-of-flight mass spectrometry (SELDI-TOF-MS) combined with IMAC-Cu2+ ProteinChip array were performed for the serum .. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.21.23
- DOI:
- 10.4238/2014.January.21.23
Genetic variations in the IGF-IGFR-IGFBP axis confer susceptibility to lung and esophageal cancer
Authors: X.P. Huang, W.H. Zhou and Y.F. Zhang
Recent evidence suggests that genetic variations in the insulin-like growth factor (IGF)-IGF receptor (IGFR)-IGF binding proteins (IGFBP) axis may impact an individual’s susceptibility to lung and esophageal cancer, but individually published results are inconclusive. Our meta-analysis aimed at providing a more precise e.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.24.17
- DOI:
- 10.4238/2014.January.24.17