Human Genetics
Identification and characterization of TGF�²-dependent and -independent cis-regulatory modules in the C4ST-1/CHST11 locus
Authors: C.M. Willis, J.L. Wrana and M. Kl�¼ppel
Chondroitin-4-sulfotransferase-1(C4ST-1)/carbohydrate sulfotransferase 11 (CHST11) is a Golgi-bound enzyme involved in the biosynthesis of the glycosaminoglycan chondroitin sulfate. The sulfation pattern of chondroitin is tightly regulated during development, injury and disease, with the temporal and spatial expressi.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr673
- DOI:
- 10.4238/vol8-4gmr673
Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder
Authors: P.P. Nascimento1, A.L. Bossolani-Martins2, D.B.A. Rosan1, L.C. Mattos3,C. Brand�£o-Mattos3 and A.C. Fett-Conte3
The role of some genes and their single nucleotide polymorphisms (SNPs) as genetic contributors of complex diseases is still a topic of much investigation. Research on genes related to autism susceptibility has been somewhat challenging, but also promising. Common genomic variants of CNTNAP2 have been associated with autism, and a range of autistic phenot.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017422
- DOI:
- 10.4238/gmr.15017422
Genetic study of meat quality traits in a male broiler line
Authors: L.G. Gaya
-.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4ta026
- DOI:
- 10.4238/vol8-4ta026
Lipid peroxidation and antioxidant capacity of G6PD-deficient patients with A-(202G>A) mutation
Authors: L.S. Ondei, L.M. Silveira, A.A. Leite, D.R.S. Souza,M.A.S. Pinhel, S. Perc�¡rio, O. Ricci J�ºnior and C.R. Bonini-Domingos
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy in which reduced NADPH concentrations are not maintained, resulting in oxidative damage. We evaluated G6PD activity, oxidative stress levels and Trolox equivalent antioxidant capacity in individuals with the A-(202G>A) mutation for G6PD deficiency. Five h.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr662
- DOI:
- 10.4238/vol8-4gmr662
Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents
Authors: H.W. Liu, R.Y. Xu, R.P. Sun, Q. Wang, J.L. Liu, W. Ge1and Z. Yu
Previous studies have indicated that the protein tyrosine phosphatase nonreceptor type 22 gene (PTPN22) is associated with type 1 diabetes (T1DM) in the Caucasian population. In the present study, we investigated the relationship between PTPN22 genetic polymorphisms and T1DM in Chinese children. A total of 202 children and adolescents with T1DM and 240 he.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.15.8
- DOI:
- 10.4238/2015.January.15.8
Genotype and phenotype correlations in diabetic patients in Uruguay
Authors: A. Mimbacas, L. GarcÃ?Âa, P. Zorrilla, M. Acosta, C. Airaudo, R. Ferrero, A. Pena, B. Simonelli, E. Soto, G. Vitarella, J. Fernandez and G. Javiel
To differentiate among different types of diabetes is becoming an increasingly challenging task. We investigated whether the patient’s genetic profile is useful to identify the particular type of diabetes, to determine the corresponding hyperglycemia pathogenesis and treat accordingly. Three hundred and thirty-eight diab.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4gmr667
- DOI:
- 10.4238/vol8-4gmr667
Lack of association of IL-2RA and IL-2RB polymorphisms with rheumatoid arthritis in a Han Chinese population
Authors: J. Zhu F. He D.D. Zhang J.Y. Yang J. Cheng R. Wu B. Gong X.Q. Liu S. Ma B. Zhou
Polymorphisms in IL-2RA and IL-2RB genes have been reported to confer susceptibility to rheumatoid arthritis (RA) in European populations. We investigated a possilbe association between SNPs in IL-2RA and IL-2RB genes and RA in a Han Chinese population. rs2104286 in IL-2RA and rs743777 in IL-2RB genes were genotyped in a Han Chinese cohort composed of 500 pa.. Read More»
- Genet. Mol. Res. 12(1):
- 2013.February.27.7
- DOI:
- 10.4238/2013.February.27.7
Anticancer activity of Bombyx batryticatus ethanol extract against the human tumor cell line HeLa
Authors: W.P. Wu, J. Cao, J.Y. Wu, H. Chen and D. Wang
Anticancer activity of Bombyx batryticatus ethanol extract (BBE) against HeLa cells was studied using cell viability, DNA fragmentation, real-time polymerase chain reaction, and Western blot analyses. The BBE inhibited the growth and induced apoptosis of HeLa cells. The MTT assay indicated that the BBE induced cytotoxicity in HeLa cells in a time- and con.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.January.15.10
- DOI:
- 10.4238/2015.January.15.10
Genetic study of abdominal fat deposition and performance, and carcass and body composition traits in a male broiler line
Authors: L.G. Gaya
-.. Read More»
- Genet. Mol. Res. 8(4):
- vol8-4ta027
- DOI:
- 10.4238/vol8-4ta027
PDK2 and ABCG2 genes polymorphisms are correlated with blood glucose levels and uric acid in Tibetan gout patients
Authors: Y.C. Ren1,2*, T.B. Jin1,2,4,5*, X.D. Sun6, T.T. Geng2,3*, M.X. Zhang1,2, L. Wang4,5,T. Feng2, L.L. Kang4,5 and C. Chen1,2
Previous studies have shown that the PDK2 and ABCG2 genes play important roles in many aspects of gout development in European populations. However, a detailed genotype-phenotype analysis was not performed. The aim of the present study was to investigate the potential association between variants in these two genes and metabolism-related quantitative phen.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017447
- DOI:
- 10.4238/gmr.15017447