Human Genetics
Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China
Authors: L. Chen, X.P. Ding, X. Wei and L.X. Li
We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutat.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.March.12.4
- DOI:
- http://dx.doi.org/10.4238/2014.March.12.4
eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease
Authors: A. Marin-Medina, A.J.L. Brambila-Tapia, V.J. Picos-C�¡rdenas, M.P. Gallegos-Arreola and L.E. Figuera
Fabry disease (FD) is an inherited X-linked lysosomal disease that causes renal failure in a high percentage of affected individuals. The eNOS gene encodes for endothelial nitric oxide synthase, which plays an important role in glomerular hemodynamics. This gene has two main polymorphisms (Glu298Asp and 4b/a) that have been st.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15047802
- DOI:
- 10.4238/gmr15047802
Inhibition of Atg6 and Pi3K59F autophagy genes in neurons decreases lifespan and locomotor ability in Drosophila melanogaster
Authors: P.G. M�Angale and B.E. Staveley
Autophagy is a cellular mechanism implicated in the pathology of Parkinson’s disease. The proteins Atg6 (Beclin 1) and Pi3K59F are involved in autophagosome formation, a key step in the initiation of autophagy. We first used the GMR-Gal4 driver to determine the effect of reducing the expression of the genes encoding thes.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048953
- DOI:
- 10.4238/gmr15048953
Association of tumor necrosis factor-�± gene polymorphism with osteoarticular tuberculosis prognosis in a Hebei population
Authors: Y.J. Lv, S.J. Liu, W.N. Hu, G.P. Zhang, Q.Y. Ren, L.D. Zheng, Y.C. Zhang, R.Q. Li and Z.K. Zhang
This study investigated the association of tumor necrosis factor-α (TNF-α)-308, -238, and -863 polymorphisms with osteoarticular tuberculosis (OA-TB) prognosis in a Hebei population. Genomic DNA was extracted from venous blood samples of 120 OA-TB patients and 100 healthy volunteers. TNF-α-308, -238, and -863.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048937
- DOI:
- 10.4238/gmr15048937
Expression and clinical significance of the obesity-related gene TNFAIP9 in obese children
Authors: L.Y. Gui, Y.L. Hu, Z.L. Hou and P. Wang
To investigate the expression of tumor necrosis factor-alpha inducible protein 9 (TNFAIP9) gene in obese children and its clinical significance, 36 simple obese children and 17 non-obese children were recruited as research subjects. The adipose tissue was obtained by abdominal operation. The expression of TNFAIP9 was detected using real-time fluorescence .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15037995
- DOI:
- 10.4238/gmr.15037995
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity
Authors: B. Paolini, P.E. Maltese, I. Del Ciondolo, D. Tavian, S. Missaglia, C. Ciuoli, M. Zuntini, S. Cecchin, M. Bertelli and G. Pompucci
Obesity is a major public health concern; despite evidence of high heritability, the genetic causes of obesity remain unclear. In this study, we assessed the presence of mutations in three genes involved in the hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 receptor, MC4R), which is important fo.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038718
- DOI:
- 10.4238/gmr.15038718
Cytogenetic evaluation of cataract patients occupationally exposed to ionizing radiation in northeast China
Authors: S.M.J. Mortazavi, S.A.R. Mortazavi and M. Paknahad
-.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049464
- DOI:
- 10.4238/gmr15049464
Upregulation of miR-3658 in bladder cancer and tumor progression
Authors: Y.J. Chen, H.F. Wang, M. Liang, R.C. Zou, Z.R. Tang and J.S. Wang
Despite increasing advances in surgical techniques and adjuvant chemotherapies, bladder cancer remains the ninth leading cause of male malignancy-associated deaths worldwide. Several microRNAs (miRNAs) have been identified to be closely associated with the progression and prognosis of, and response to treatments in various hum.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049048
- DOI:
- 10.4238/gmr15049048
Cloning and expression of the 1-aminocyclopropane-1-carboxylic oxidase gene from Agrostis stolonifera
Authors: G.Z. Xiao, L.J. Li, K. Teng, Y.H. Chao and L.B. Han
A gene encoding 1-aminocyclopropane-1-carboxylic oxidase (ACO), which catalyzes the terminal step in ethylene biosynthesis, was isolated from Agrostis stolonifera. The AsACO gene is composed of 975 bp, encoding 324 amino acids. Three exons interspersed by two introns form AsACO gDNA. A BLAST search of the nucleotide sequence r.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049034
- DOI:
- 10.4238/gmr15049034
Combined effect of traditional Chinese and Western medicine on inflammatory factors in patients with diabetes-induced xerophthalmia
Authors: S.Q. Wu, Q. Dai, J.L. Xu, W.Y. Sheng, Q.B. Xu and L.Y. Zhong
Diabetes-induced xerophthalmia is a general metabolic disorder with high incidence and increased treatment difficulty. Our study aimed to explore the combined effect of traditional Chinese and Western medicines on diabetes-associated xerophthalmia. We recruited 60 diabetic xerophthalmia patients, and randomly assigned them to .. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049030
- DOI:
- 10.4238/gmr15049030