All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Human Genetics

Human Genetics   Research Article

Lack of association of ACE gene I/D polymorphism with obstructive sleep apnea syndrome in Turkish patients

Authors: T. Yakut, M. Karkucak, A. Ursavas, T. Gulten, B. Burgazlioglu, O. Gorukmez and M. Karadag

Angiotensin-converting enzyme (ACE) is a vital enzyme in the renin-angiotensin-aldosterone system, and there are reports in the literature describing its role in the development of cardiovascular system diseases, with I/D polymorphism of the ACE gene. We examined the relationship between a patient group with obstructive sleep .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr755
DOI:
10.4238/vol9-2gmr755
Human Genetics   Research Article

Expression and significance of SATB1 in the development of breast cancer

Authors: S. Zhang, X. Gao, Y. Ma, J. Jiang, Z. Dai, X. Yin, W. Min, W. Hui and B. Wang

Special AT-rich sequence binding protein 1 (SATB1) is a recently discovered gene regulator that can promote the growth and metastasis of breast cancer. However, its expression in different stages of breast cancer development have not been examined. We explored the role of SATB1 in the development of breast cancer by detecting SATB1 expression levels in di.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.13.10
DOI:
http://dx.doi.org/10.4238/2015.April.13.10
Human Genetics   Research Article

Mechanisms of antioxidant defense in the state of post-hypoxia in Phrynops geoffroanus (Testudines: Chelidae)

Authors: N.R.A. Costa, L.P.R. Venancio,and C.R. Bonini-Domingos

hrynops geoffroanus (Testudines: Chelidae), comprises a group of reptiles that are tolerant to variations in environmental oxygen availability. Due to this characteristic, they are considered an excellent model for studies that aim the understanding of the physiological and biochemical mechanisms involved in the resistance to .. Read More»

Genet. Mol. Res. 15(4):
gmr15049308
DOI:
10.4238/gmr15049308
Human Genetics   Research Article

DNA repair genes in endometriosis

Authors: R. Attar, C. Cacina, S. Sozen, E. Attar and B. Agachan

Several polymorphisms in the DNA repair gene are thought to have significant effects on cancer risk. We investigated the association of polymorphisms in the DNA repair genes XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His, APE1 Asp148Glu, and HOGG1 Ser326Cys with endometriosis risk. Genotypes were determined by.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr779
DOI:
10.4238/vol9-2gmr779
Human Genetics   Research Article

Expression of acid phosphatase in the seminiferous epithelium of vertebrates

Authors: R.L. Peruquetti, S.R. Taboga and M.T.V. Azeredo-Oliveira

Acid phosphatases (AcPs) are known to provide phosphate to tissues that have high energy requirements, especially during development, growth and maturation. During spermatogenesis AcP activity is manifested in heterophagous lysosomes of Sertoli cells. This phagocytic function appears to be hormone-independent. We examined the .. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr730
DOI:
10.4238/vol9-2gmr730
Human Genetics   Research Article

Karyotype evolution in the genus Jacaranda Juss. (Jacarandeae, Bignoniaceae): chromosome numbers and heterochromatin

Authors: J.M.P. Cordeiro, S.A.A. Lima, S.N. Paz, A.M.S. Santos and L.P. Felix

Most taxa in the Bignoniaceae have 2n = 40, but the basal clade Jacarandeae has 2n = 36, suggesting that x = 18 is the ancestral basic number for the family. Variations in heterochromatin band patterns in genera that are numerically stable, such as Jacaranda, could facilitate our understanding of the chromosomal and karyotypic.. Read More»

Genet. Mol. Res. 15(4):
gmr15048973
DOI:
10.4238/gmr15048973
Human Genetics   Research Article

Mediterranean fever gene mutation analysis in infertile Turkish males

Authors: E.O. Etem, D. Erol , Y. Huseyin and A. Arslan

Male infertility is a common barrier that prevents successful conception. There have been reports of azoospermia in men with familial Mediterranean fever, some of whom had not been treated with colchicine. Variation in this disorder could be a risk factor for amyloidosis associated with azoospermia. We determined the frequency.. Read More»

Genet. Mol. Res. 9(2):
vol9-2gmr743
DOI:
10.4238/vol9-2gmr743
Human Genetics   Research Article

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

Authors: R.X. Wang, H.G. Zhang, Y. Pan, J.H. Zhu, F.G. Yue, L.T. Xue and R.Z. Liu

Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in .. Read More»

Genet. Mol. Res. 15(4):
gmr15048948
DOI:
10.4238/gmr15048948
Human Genetics   Research Article

Effect of rosuvastatin on high glucose-induced endoplasmic reticulum stress in human umbilical vein endothelial cells

Authors: J.Z. Xu, Y.L. Chai and Y.L. Zhang

It is well established that endothelial injury plays an essential role in atherosclerotic plaque formation. Accumulating evidence has shown that high glucose levels may detrimentally affect cultured endothelial cells through endoplasmic reticulum (ER) stress. In this study, we investigated the effect of rosuvastatin on high gl.. Read More»

Genet. Mol. Res. 15(4):
gmr15048935
DOI:
10.4238/gmr15048935