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Human Genetics

Human Genetics   Research Article

Protective effects of ascorbic acid and vitamin E on antioxidant enzyme activity of freeze-thawed semen of Qinchuan bulls

Authors: X.L. Zhao, Y.K. Li, S.J. Cao, J.H. Hu, W.H. Wang,R.J. Hao, L.S. Gui and L.S. Zan

The aim of this study was to determine the protective effects of the combination of ascorbic acid (Vc) and vitamin E (VE) on antioxidant enzyme activity, sperm motility, viability, and acrosome integrity of Qinchuan bulls after freeze-thaw. In this study, we determined the effects of Vc and VE on the activity of the antioxidant enzyme defense system compr.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.16
DOI:
http://dx.doi.org/10.4238/2015.March.30.16
Human Genetics   Research Article

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Authors: M.L. Lai, L.J. Yang, X.H. Zhu and M. Li

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We stu.. Read More»

Genet. Mol. Res. 11(2):
http://dx.doi.org/2012.June.29.5
DOI:
http://dx.doi.org/10.4238/2012.June.29.5
Human Genetics   Research Article

Effect of a pre-microRNA-149 (miR-149) genetic variation on the risk of ischemic stroke in a Chinese Han population

Authors: Q.Y. Chen, N. Liu, J. Ma, Y. Fang, Y. Cao, H. Li and Y.C. Liu

Clinical and experimental data have demonstrated that genetic factors play an important role in determining the susceptibility to ischemic stroke (IS). The present study was performed to clarify the association between the pre-microRNA-149 (miR-149) single nucleotide polymorphism rs71428439 and the risk of IS in the Jiangsu Han population. Polymerase chai.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.17
DOI:
http://dx.doi.org/10.4238/2015.March.30.17
Human Genetics   Research Article

Inhibitory effect of alternatively spliced RAGEv1 on the expression of NF-kB and TNF-�± in hepatocellular carcinoma cells

Authors: T. Lertwittayapon, T. Tencomnao and R. Santiyanont

Binding of specific ligands to the receptor for advanced glycation end-products (RAGE) can trigger a series of signal transductions, which leads to pathogenesis in many chronic degenerative diseases, including cancer. Alternative splicing of RAGE mRNA has resulted in many variants, including RAGE variant 1 (RAGEv1). This parti.. Read More»

Genet. Mol. Res. 11(2):
http://dx.doi.org/2012.June.29.3
DOI:
http://dx.doi.org/10.4238/2012.June.29.3
Human Genetics   Research Article

Meta-analysis demonstrates association between Arg72Pro polymorphism in the P53 gene and susceptibility to keloids in the Chinese population

Authors: Y. Wu, B. Wang, Y.H. Li, X.G. Xu, Y.J. Luo, J.Z.S. Chen, H.C. Wei, X.H. Gao and H.D. Chen

Although there is evidence suggesting genetic susceptibility for keloids, studies investigating the association between Arg72Pro polymorphism in the P53 gene and tendency to form keloids have given variable results. We made a meta-analysis of the effects of P53 Arg72Pro polymorphism on keloid risk in the Chinese population by .. Read More»

Genet. Mol. Res. 11(2):
http://dx.doi.org/2012.June.29.2
DOI:
http://dx.doi.org/10.4238/2012.June.29.2
Human Genetics   Research Article

Anesthesia treatment in cases of infant epiglottis cyst emergency extirpation operations

Authors: Q. Xu, J.P. Xu and L.Z. Wang

Congenital epiglottic cyst is a rare embryonic disease. As a congenital laryngeal mucocele, its clinical manifestations include repeated sudden dyspneic respiration and even suffocation accompanied by laryngeal stridor after birth. During food intake, bucking and vomiting is a key feature. Delay in diagnosis and treatment of t.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.17.4
DOI:
http://dx.doi.org/10.4238/2014.June.17.4
Human Genetics   Research Article

Analysis of age of onset, pre-existing infections, and features of magnetic resonance imaging results in patients with acute myelitis

Authors: Q. Tang and H. Xiao

The clinical features and potential risk factors of acute myelitis (AM) were investigated. The medical records of patients with AM admitted to our department between January 2004 and December 2011 were collected and retrospectively analyzed. The diagnosis of AM was in line with the diagnostic criteria of the Transverse Myelitu.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.17.6
DOI:
http://dx.doi.org/10.4238/2014.June.17.6
Human Genetics   Research Article

Influence of interleukin-18 gene polymorphisms on acute pancreatitis susceptibility in a Chinese population

Authors: H.B. Gui, X.G. Du, Z.H. Fu and X.M. Chen

We investigate the relationship between IL-18 -607C/A and -137G/C genetic polymorphisms and development of acute pancreatitis in a Chinese population. A total of 153 patients were consecutively recruited from the First Affiliated Hospital of Chongqing Medical University between January 2013 and November 2014. Genotyping of IL-.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038394
DOI:
10.4238/gmr.15038394
Human Genetics   Research Article

Dynamical evaluation of vaginal micro-ecosystem in a Chinese woman with recurrent vulvovaginal candidiasis

Authors: Z.Q. Hu, W. Zhou, X.A. Yue, L.Y. Mu and Y.M. Jiang

We reported a rare case of recurrent vulvovaginal candidiasis (RVVC) in this study. Through dynamic evaluation of the vaginal micro-ecosystem, we found that only depuratory degree, spores, blastospores, and hyphae were specific indicators and the “barometer” of RVVC development. Therefore, an understanding of vaginal micro-ecological changes c.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.22
DOI:
http://dx.doi.org/10.4238/2015.March.30.22
Human Genetics   Research Article

Role of IL-6 polymorphism on the development of cardiovascular events and coronary artery disease in patients receiving hemodialysis

Authors: Y. Song, H.D. Gu, Y. He and J.W. Wang

We aimed to investigate the role of IL-6 polymorphism on the development of cardiovascular events and coronary artery disease in patients receiving hemodialysis. Blood samples were collected from 216 patients receiving hemodialysis treatment. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype IL-6 -634C/G, -.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.23
DOI:
http://dx.doi.org/10.4238/2015.March.30.23