Human Genetics
Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease
Authors: Y. Lv, L.H. Cao2, H. Pang, L.N. Lu, J.L. Li, Y. Fu, S.L. Qi4, Y. Luo and J. Li-Ling
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder characterized by nystagmus, impaired motor development, ataxia, and progressive spasticity. Genetically defective or altered levels of proteolipid protein (PLP1) or gap-junction alpha protein 12 gene have been found to be a common cause. Here we report on.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.August.6.7
- DOI:
- 10.4238/2012.August.6.7
Activation of proacrosin accompanies upregulation of sp32 protein tyrosine phosphorylation in pig sperm
Authors: P.L. Sun, L.X. Yang, J.-J. Cui, Y. Tian, Y. Liu and Y. Jin
This study investigated the relationship between acrosin activation and pig sperm proacrosin binding protein (sp32) phosphorylation levels. Differently processed pig spermatozoa (fresh semen sperm, capacitation sperm, acrosome reaction sperm, capacitation-like sperm, and thawed sperm) were subjected to sodium dodecyl sulfate polyacrylamide gel electrophor.. Read More»
- Genet. Mol. Res. 12(4):
A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians
Authors: H. Yan, Y. Guo, T.-L. Yang, L.-J. Zhao and H.-W. Deng
The cytochrome P450c17α gene (CYP17) encodes a key biosynthesis enzyme of estrogen, which is critical in regulating adipogenesis and adipocyte development in humans. We therefore hypothesized that CYP17 is a candidate gene for predicting obesity. In order to test this hypothesis, we performed a family-based association t.. Read More»
- Genet. Mol. Res. 11(3):
- 2012.May.22.1
- DOI:
- 10.4238/2012.May.22.1
Breeding biofortified cowpea lines for semi-arid tropical areas by combining higher seed protein and mineral levels
Authors: C.A.F. Santos and L.S. Boiteux
One strategy to mitigate human malnutrition in semi-arid areas is to increase the protein and mineral content of cowpea cultivars. Total seed protein, potassium, calcium, iron, zinc, and sodium contents were quantified in elite cowpea lines, with the aim to develop cultivars that had improved levels of these nutrients. Eighty-seven F6 lines derived from 6.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.16.4
- DOI:
- 10.4238/2013.December.16.4
Frequencies of -308G/A (TNFA) and -509C/T (TGFB1) polymorphisms in sickle cell anemia patients from Brazil
Authors: L.S. Torres, E. Belini Junior, D.G. Silva, C.L. Lobo, M.A. Ruiz and C.R. Bonini-Domingos
Sickle cell anemia is an affection that causes chronic inflammation, with consequences for vaso-occlusion, oxidative stress and cytokine production. Genetic polymorphisms in markers involved in this process can modulate the inflammatory response, including polymorphisms -308G/A of TNFA (tumor necrosis factor alpha) and -509C/T of TGFB1 (transforming growt.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.16.1
- DOI:
- 10.4238/2013.December.16.1
Analysis of key genes and modules during the courses of traumatic brain injury with microarray technology
Authors: X.-Y. Zhang1*, C.-G. Gu2*, J.-W. Gu3, J.-H. Zhang1, H. Zhu1, Y.-C. Zhang1, J.-M. Cheng1, Y.-M. Li1 and T. Yang1
Gene expression data acquired at different times after traumatic brain injury (TBI) were analyzed to identify differentially expressed genes (DEGs). Interaction network analysis and functional enrichment analysis were performed to extract valuable information, which may benefit diagnosis and treatment of TBI. Microarray data were downloaded from Gene Expr.. Read More»
- Genet. Mol. Res. 13(4):
Developmental characteristics of pectoralis muscle in Pekin duck embryos
Authors: L.H. Gu, T.S. Xu, W. Huang, M. Xie, W.B. Shi, S.D. Sun and S.S. Hou
To confirm the entire developmental process and transition point of embryonic Pekin duck pectoral muscle, and to investigate the association between pectoral muscle development and their regulating genes, anatomical and morphological analyses of embryonic Pekin duck skeletal muscles were performed, and the expression patterns of its regulating genes were .. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.13.6
- DOI:
- 10.4238/2013.December.13.6
Structure, function, and localization of aquaporins: their possible implications on gamete cryopreservation
Authors: A.D. Sales, C.H. Lobo, A.A. Carvalho, A.A. Moura and A.P.R. Rodrigues
The discovery of water channels (aquaporins, AQPs) was a landmark event for the clarification of water transport through the plasma membrane. AQPs belong to a family of intrinsic membrane proteins that act as selective channels for water and for solutes such as glycerol and urea. AQPs were found in different tissues and organs, including male and female r.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.13.5
- DOI:
- 10.4238/2013.December.13.5
RXR agonists inhibit high glucose-induced upregulation of inflammation by suppressing activation of the NADPH oxidase-nuclear factor-�ºB pathway in human endothelial cells
Authors: R.B. Ning, J. Zhu, D.J. Chai, C.S. Xu, H. Xie, X.Y. Lin, J.Z. Zeng and J.X. Lin
An inflammatory response induced by high glucose is a cause of endothelial dysfunction in diabetes and is an important contributing link to atherosclerosis. Diabetes is an independent risk factor of atherosclerosis and activation of retinoid X receptor (RXR) has been shown to exert anti-atherogenic effects. In the present study, we examined the effects of.. Read More»
- Genet. Mol. Res. 12(4):
- 2013.December.13.3
- DOI:
- 10.4238/2013.December.13.3
Effects of maintaining intravenous infusion of remifentanil or propofol on anesthesia and palinesthesia during anesthesia and analepsia
Authors: X. Zhao, Y.W. Jin, H.B. Li, Z.G. Wang, H. Feng and C. Feng
When recovering from general anesthesia, upon removal of the endotracheal tube, patients may experience a high dynamic response in the circulatory system, along with choking and restlessness. This study was designed to study the effect of maintaining an intravenous infusion of remifentanil or propofol on the performance of gen.. Read More»
- Genet. Mol. Res. 13(2):
- 2014.February.13.8
- DOI:
- 10.4238/2014.February.13.8