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Human Genetics

Human Genetics   Research Article

Aberrant DNA methylation of the P16, MGMT, and hMLH1 genes in combination with the methylenetetrahydrofolate reductase C677T genetic polymorphism and folate intake in gastric cancer

Authors: J. Lin, R.M. Zeng, R.N. Li and W.H. Cao

Epidemiological studies have indicated that folate metabolism is correlated with increased risk of gastric cancer. Since methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, in this study, we examined whether polymorphisms and haplotypes of MTHFR are correlated with the risk of gast.. Read More»

Genet. Mol. Res. 13(1):
2014.March.24.10
DOI:
10.4238/2014.March.24.10
Human Genetics   Research Article

Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

Authors: C.R. Mi, H. Wang, H. Jiang, R.P. Sun and G.X. Wang

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a .. Read More»

Genet. Mol. Res. 13(1):
2014.March.24.14
DOI:
10.4238/2014.March.24.14
Human Genetics   Research Article

Prediction and extraction of microRNA2target interactions associated with leukemia

Authors: L. Gong, Q. Yan, R. Yang and X. Sun

MicroRNAs are small, non-coding RNAs that regulate gene expression by suppressing mRNA translation or inducing mRNA degradation, and have been implicated in a growing number of diseases. To understand microRNAs’ function, it is vital to identify microRNA2target interactions. This work explores the prediction and extracti.. Read More»

Genet. Mol. Res. 13(1):
2014.March.24.19
DOI:
10.4238/2014.March.24.19
Human Genetics   Research Article

Association of a disintegrin and metalloproteinase 33 (ADAM33) gene polymorphisms with chronic obstructive pulmonary disease in the Chinese population: A meta-analysis

Authors: D.D. Li, S.J. Guo, L.Q. Jia and F.Q. Wen

Numerous studies have evaluated the association between polymorphisms of a disintegrin and metalloproteinase 33 (ADAM33) gene and chronic obstructive pulmonary disease (COPD) risk; however, the results remain conflicting. The aim of this study was to investigate whether ADAM33S2 and -T1 polymorphisms are associated with suscep.. Read More»

Genet. Mol. Res. 13(3):
2014.August.25.2
DOI:
10.4238/2014.August.25.2
Human Genetics   Research Article

Effects of rifampicin on osteogenic differentiation and proliferation of human mesenchymal stem cells in the bone marrow

Authors: Z. Zhang, X. Wang, F. Luo, H. Yang, T. Hou, Q. Zhou, F. Dai, Q. He and J. Xu

This study was designed to investigate the effect of different concentrations of rifampicin on osteogenic differentiation and proliferation of mesenchymal stem cells (MSCs) in human bone marrow. Rifampicin treatment at 0, 4, 8, 16, 32, 64, and 128 mg/mL was applied throughout the whole process, from stromal cells purified from.. Read More»

Genet. Mol. Res. 13(3):
2014.August.25.3
DOI:
10.4238/2014.August.25.3
Human Genetics   Research Article

A discussion of the optimal treatment of intracranial aneurysm rupture in elderly patients

Authors: C. Liu

This study aimed to find an optimal treatment for intracranial aneurysm rupture in elderly patients. We adopted endovascular embolization and combined it with mini-invasive aspiration, vascular stenosis stenting, and rehabilitation training to treat 13 elderly patients with intracranial aneurysm rupture. When the 13 patients w.. Read More»

Genet. Mol. Res. 13(3):
Human Genetics   Research Article

Correlations of iodide ions with vascular endothelial growth factor and its receptors during the proliferation of vascular endothelial cells

Authors: F. Teng, M.H. Zu and Q.J. Hua

The aim of this study was to explore the correlations of iodide ions with vascular endothelial growth factor (VEGF) and its receptors during the proliferation of vascular endothelial cells (VECs). The proliferation rates of VECs in the presence of iodide ions and VEGF inhibitor were determined using the CCK-8 method. The effec.. Read More»

Genet. Mol. Res. 13(3):
2014.August.25.7
DOI:
10.4238/2014.August.25.7
Human Genetics   Research Article

Association of TSC gene variants and hypertension in Mongolian and Han populations

Authors: P.Y. Chang, L.G. Zhao and X.L. Su

We investigated a possible association between genetic variations in the thiazide-sensitive Na-Cl cotransporter (TSC) gene and essential hypertension (EH) in the Mongolian and Han ethnic groups in Inner Mongolia. Our study included 385 unrelated Mongolian herdsmen and 523 Han farmers. Nine tagSNPs of TSC were identified from t.. Read More»

Genet. Mol. Res. 10(2):
vol10-2gmr1227
DOI:
10.4238/vol10-2gmr1227
Human Genetics   Research Article

Development of a cassava core collection based on single nucleotide polymorphism markers

Authors: E.J. Oliveira, C.F. Ferreira, V.S. Santos and G.A.F. Oliveira

Single nucleotide polymorphism (SNP) markers were used in the largest cassava (Manihot esculenta Crantz) germplasm collection from Brazil to develop core collections based on the maximization strategy. Subsets with 61, 64, 84, 128, 256, and 384 cassava accessions were selected and named PoHEU, MST64, PoRAN, MST128, MS.. Read More»

Genet. Mol. Res. 13(3):
2014.August.25.11
DOI:
10.4238/2014.August.25.11
Human Genetics   Research Article

TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

Authors: C.M. Camargo-Kosugi, P. D�Amora, J.P.F.O. Kleine, C.V. Carvalho, H. Sato, E. Schor and I.D.C.G. Silva

We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*.. Read More»

Genet. Mol. Res. 13(3):
2014.August.26.1
DOI:
10.4238/2014.August.26.1