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Human Genetics

Human Genetics   Research Article

MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population

Authors: J. Li1, H.-X. Chen2, J.-G. Yang3, W. Li3, R. Du3 and L. Tian3

We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls... Read More»

Genet. Mol. Res. 13(4):
/2014.October.20.15
DOI:
/10.4238/2014.October.20.15
Human Genetics   Research Article

A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1.

Authors: X.L. Wang1, D.D. Wang2, J.Q. Gu1, N. Zhang1 and Z.Y. Shan1

Mutations in the fibroblast growth factor receptor 1 gene (FGFR1) have been reported in patients with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). Here, we report an nIHH patient with a novel mutation in FGFR1. The patient was a 19-year-old female who presented the nIHH phenotype with primary amenorrhea, cleft lip and p.. Read More»

Genet. Mol. Res. 13(4):
Human Genetics   Research Article

Immunological characteristics of outer membrane protein omp31 of goat Brucella and its monoclonal antibody

Authors: W.Y. Zheng, Y. Wang, Z.C. Zhang and F. Yan

We examined the immunological characteristics of outer membrane protein omp31 of goat Brucella and its monoclonal antibody. Genomic DNA from the M5 strain of goat Brucella was amplified by polymerase chain reaction and cloned into the prokaryotic expression vector pGEX-4T-1. The expression and immunological characteristics of .. Read More»

Genet. Mol. Res. 14(4):
2015.October.5.10
DOI:
10.4238/2015.October.5.10
Human Genetics   Research Article

AMP-activated protein kinase regulates autophagic protection against cisplatin-induced tissue injury in the kidney

Authors: L. Wei, W. Chen, Y. Zou, H. Huang, B. Pan, S. Jin, R. Huang, S. Nie and G. Kong

Although the nephrotoxicity of cisplatin has been well documented as a major side effect of chemotherapy, the exact mechanism by which prosurvival and apoptotic pathways interplay to determine renal pathology remains elusive. Recent studies suggested that autophagy might serve as an adaptive mechanism to promote cell survival .. Read More»

Genet. Mol. Res. 14(4):
2015.October.5.13
DOI:
10.4238/2015.October.5.13
Human Genetics   Research Article

R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran

Authors: H.-R. Kouhpayeh, M. Hashemi, S.-A. Hashemi, A. Moazeni-Roodi, M. Naderi, B. Sharifi-Mood, M. Taheri, M. Mohammadi and S. Ghavami

The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, which encodes an intracellular lymphoid-specific phosphatase, is considered an important regulator of T-cell activation. We investigated a possible association between the PTPN22 C1858T (R620W) polymorphism and pulmonary tuberculosis in an Iranian population... Read More»

Genet. Mol. Res. 11(2):
2012.April.27.6
DOI:
10.4238/2012.April.27.6
Human Genetics   Research Article

Glyphosate biodegradation and potential soil bioremediation by Bacillus subtilis strain Bs-15

Authors: Glyphosate biodegradation and potential soil bioremediation by Bacillus subtilis strain Bs-15

Glyphosate and glyphosate-containing herbicides have an adverse effect on mammals, humans, and soil microbial ecosystems. Therefore, it is important to develop methods for enhancing glyphosate degradation in soil through bioremediation. We investigated the potential of glyphosate degradation and bioremediation in soil by Bacillus subtilis Bs-15. Bs-15 gre.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.37
DOI:
10.4238/2015.November.18.37
Human Genetics   Research Article

Distribution and localization of abnormally expressed OPTN proteins in RGC5 retinal ganglion cells and their effects on subcellular morphology

Authors: Z.R. Xu, F.G. Jiang and F. Chen

The objectives of this study were to investigate the distributions of abnormally expressed optineurin (OPTN) proteins in retinal ganglion cells (RGC5s) of transgenic rats and their effects on subcellular morphological structures. Green fluorescent protein labeled EGFP wild-type (OPTNWT), E50K mutant type (OPTNE50K), and OPTN s.. Read More»

Genet. Mol. Res. 14(4):
2015.October.5.22
DOI:
10.4238/2015.October.5.22
Human Genetics   Research Article

Association between MYC rs9642880[T] allele and bladder cancer risk: a meta-analysis

Authors: Y. Zhao, J.G. Qi, N. Yang, Y.L. Lin, J. Liang and X. Zhu

A single nucleotide polymorphism of MYC rs9642880 (G>T) at the 8q24.1 locus is thought to be associated with bladder cancer risk based on the results of genome-wide association studies, but the results remain inconclusive. To assess the association between rs9642880[T] allele and bladder cancer risk, we performed this meta-analysis including 18 case-co.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.39
DOI:
10.4238/2015.November.18.39
Human Genetics   Research Article

Association analysis of IL-17A and IL-17F polymorphisms in Chinese women with cervical cancer

Authors: L. Li, Y.L. Tian, X.M. Lv, H.F. Yu, Y.Y. Xie, J.D. Wang and W. Shi

We selected six tagged single nucleotide polymorphisms (SNPs) in the interleukin 17A (IL-17A) and IL-17F genes, and evaluated the relationship between the six common SNPs and environmental factors in cervical cancer patients. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the IL-17A (rs22.. Read More»

Genet. Mol. Res. 14(4):
2015.October.9.6
DOI:
10.4238/2015.October.9.6
Human Genetics   Research Article

Analysis of the drug-resistant characteristics of Klebsiella pneumoniae isolated from the respiratory tract and CTX-M ESBL genes

Authors: S.Y. Huang, K.Y. Pan, X.Q. Liu, X.Y. Xie, X.L. Dai, B.J. Chen, X.Q. Wu and H.Y. Li

The main aim of this study was to understand the relationship between the drug-resistant characteristics of Klebsiella pneumoniae and CTX-M-type extended spectrum β-lactamases (ESBLs), and to detect the distributions of CTX-M-type ESBLs in clinically isolated strains. CTX-M ESBL genes isolated from the clinical samples we.. Read More»

Genet. Mol. Res. 14(4):
2015.October.5.17
DOI:
10.4238/2015.October.5.17