Human Genetics
Prognostic significance of head and neck squamous cell carcinoma repair gene polymorphism
Authors: E. Stur, L.P. Agostini, F.M. Garcia, G.T. Peterle, L.L. Maia,S.O. Mendes, Q.S. Anders, R.S. Reis, J.A. Santos, D.P. Ventorim, M.B. Carvalho, E.H. Tajara, M. Santos, F. Paula,A.M.A. Silva-Conforti and I.D. Louro
The aims of this study were to analyze the polymorphisms XRCC1 Arg194Trp, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPC Lys939Gln, ERCC1 Asn118Asn, and RAD51 -98G>C and to verify their influence on radiotherapy response and prognosis of patients with head and neck squamous cell carcinoma (HNSCC). Peripheral blood DNA was extracted .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.16.11
- DOI:
- 10.4238/2015.October.16.11
Expression of aquaporins 1 and 3 in degenerative tissue of the lumbar intervertebral disc
Authors: S.B. Li1, K.S. Yang1 and Y.T. Zhang2
Lumbar intervertebral disc degeneration is induced by multiple factors, but few studies have examined the effects of aquaporins on this process. We compared the expression levels of aquaporins 1 and 3 in normal and degenerative lumbar intervertebral discs. Fifteen normal and 15 degenerative lumbar intervertebral disc tissues were excised from lumbar burst.. Read More»
- Genet. Mol. Res. 13(4):
Significance of detecting IgH and TCR�³ gene rearrangements in patients with hemopoietic maligancies by real-time quantitative PCR
Authors: J. Yao, R.H. Wang, B. Li, Y. Wang, P. Zhu, X.J. Li, X.Q. Ma,M.J. Ma and L.F. Yin
The aim of our study was to investigate the association of IgH and TCRγ gene rearrangements in hematological malignancies with the disease and clinical application. IgH and TCRγ gene rearrangements were determined in 69 paraffin and bone marrow specimens with SYBR Green I fluorescent dye and RQ-PCR method, includin.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.9.5
- DOI:
- 10.4238/2015.October.9.5
Association of a miR-34b binding site single nucleotide polymorphism in the 3'-untranslated region of the methylenetetrahydrofolate reductase gene with susceptibility to male infertility
Authors: W. Zhang, W.-Q. Lin, H.-F. Cao, C.-Y. Li and F. Li
This study aims to explore the possible associations between a genetic variation in the miR-34b binding site in the 3'-untranslated region (UTR) of the methylenetetrahydrofolate reductase (MTHFR) gene (rs55763075) with male infertility in a Chinese population. Genotype distributions of the rs55763075 single nucleotide polymorp.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.9.8
- DOI:
- 10.4238/2015.October.9.8
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria
Authors: X.D. Kong1, H.R. Shi1, N. Liu1, Q.H. Wu1, X.J. Xu2, Z.H. Zhao1, N. Lu1, J. Li-Ling3 and D. Luo4
Isolated methylmalonic acidemia (MMA) is a genetically heterogeneous disorder caused mainly by deficiency of methylmalonyl-CoA mutase. In the present study, we analyzed MUT gene mutations in 3 Chinese couples with a birth history of isolated MMA... Read More»
- Genet. Mol. Res. 13(4):
Lack of an association between matrix metalloproteinase polymorphisms and coronary heart disease in a Han Chinese population
Authors: C.M. Wang, H.D. Ye, Y.R. Li, Q.X. Hong, L.L. Tang, A.N. Zhou, M.Q. Xu and S.W. Duan
Coronary heart disease (CHD) has become a leading cause of human deaths worldwide. Recent studied showed that polymorphisms of the matrix metalloproteinase (MMP) genes played important roles in extracellular matrix remodeling and contribute to the pathogenesis of vascular diseases. Here, we investigated whether these MMP gene .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.9.14
- DOI:
- 10.4238/2015.October.9.14
Comparative characteristics of DNA polymorphisms of �º-casein gene (CSN3) in the horse and donkey
Authors: Comparative characteristics of DNA polymorphisms of �º-casein gene (CSN3) in the horse and donkey
The aims of this study were to assess the genetic variability in the exon 1 of the κ-casein gene in four Italian horse populations (Italian Saddle horse, Italian Trotter, Italian Heavy Draught horse, and Murgese horse) and in a sample of Martina Franca donkey by estimating genotype, allele and haplotype frequencies, as well as several population gen.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.November.18.20
- DOI:
- 10.4238/2015.November.18.20
Characterization of HSP70 and its expression in tissue: correlation with physiological and immune indices in goose (Anser cygnoides) serum
Authors: W.W. Zhang, X. Xiao, J.K. Gan, X.Q. Zhang, L.N. Kong and Q.B. Luo
We cloned the goose heat shock protein 70 gene (HSP70), to determine its sequence variation and elucidate its mRNA expression. We designed primers to amplify the entire goose HSP70 sequence. We used 10 commercial Wuzong goslings in a heat-stress experiment. We collected tissue samples for RNA extraction and quantitative real-t.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.9.17
- DOI:
- 10.4238/2015.October.9.17
Curative effect and safety of intrathecal transplantation of neural stem cells for the treatment of cerebral hemorrhage
Authors: Y.Z. Xue, X.X. Li, L. Li, S.L. Pang, J.G. Yao and P.L. Hao
In this study, we aimed to explore the curative effect and safety of neural stem cell intrathecal transplantation for the treatment of cerebral hemorrhage. We transplanted 4.0 x 108 neural stem cells per procedure into the subarachnoid space by lumbar puncture 7 days after cerebral hemorrhage, twice a week, a total of 4 times. NIHSS scores and brain CT sc.. Read More»
- Genet. Mol. Res. 13(4):
- 2014.October.20.5
- DOI:
- 10.4238/2014.October.20.5
Mining topological structures of protein-protein interaction networks for human brain-specific genes
Authors: W.J. Cui, X.J. Gong, H. Yu and X.C. Zhang
Compared to other placental mammals, humans have unique thinking and cognitive abilities because of their developed cerebral cortex composed of billions of neurons and synaptic connections. As the primary effectors of the mechanisms of life, proteins and their interactions form the basis of cellular and molecular functions in .. Read More»
- Genet. Mol. Res. 14(4):
- 2015.October.16.10
- DOI:
- 10.4238/2015.October.16.10