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Human Genetics

Human Genetics   Research Article

Lack of association between CARD10/CARMA3 tag SNPs and psoriasis vulgaris in the southern Chinese population

Authors: G. Shi, M.F. Zhang, P.Y. Liao, T.T. Wang, S.J. Li, Y.M. Fan, K.J. Zhu

Previously, we determined that the CARD11 rs4722404 single nucleotide polymorphism (SNP) increases risk of early-onset psoriasis vulgaris (PsV). Moreover, the CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of this disease. CARMA1/CARD11, CARMA2/CARD14, and CARMA3/CARD10 are conserved acros.. Read More»

Genet. Mol. Res. 16(1):
gmr16019025
DOI:
10.4238/gmr16019025
Human Genetics   Research Article

Differences in mitochondrial gene expression profiles, enzyme activities and myosin heavy chain types in yak versus bovine skeletal muscles

Authors: Y.Q. Lin Y.O. Xu Y. Yue S.Y. Jin Y. Qu F. Dong Y.P. Li Y.C. Zheng

Hypoxia can affect energy metabolism. We examined gene expression and enzyme activity related to mitochondrial energy metabolism, as well as myosin heavy chain (MyHC) types in yaks (Bos grunniens) living at high altitudes. Real-time quantitative PCR assays indicated that the yak has significantly lower levels of carnitine palmitoyltransferase (CPT) mRNA i.. Read More»

Genet. Mol. Res. 11(3):
2012.May.22.3
DOI:
10.4238/2012.May.22.3
Human Genetics   Research Article

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Authors: V.C. Oliveira1,2, F.A. Caxito1, K.B. Gomes3 , A.M. Castro1,V.C. Pardini1 and A.C.S. Ferreira1,2

Development of hereditary hemochromatosis is asso­ciated with the C282Y, H63D or S65C mutations in the hemochro­matosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochr.. Read More»

Genet. Mol. Res. 8(3):
vol8-3gmr562
DOI:
10.4238/vol8-3gmr562
Human Genetics   Research Article

Molecular cloning, sequencing, and expression of Eimeria tenella HSP70 partial gene

Authors: A.L.G. Bogado, G.F. Martins, J.P. Sasse, J. da S. Guimar�£es Jr., J.L. Garcia

Members of the Eimeria genus are protozoan parasites of the subphylum Apicomplexa (Eimeriidae family), and belong to the coccidia group. Eimeria tenella is one of the most pathogenic species owing to its ability to penetrate the mucosa, and cause inflammation and damage. It is an obligate intracellular parasite that causes dis.. Read More»

Genet. Mol. Res. 16(1):
gmr16018964
DOI:
10.4238/gmr16018964
Human Genetics   Research Article

The radiotracer 99mTc-MIBI is not genotoxic for human peripheral blood lymphocytes at diagnostic radioactive dose

Authors: S.J. Hosseinimehr1, A. Ahmadi1, D. Beiki2, A. Mahmoudzadeh3, M. Babaei4 and E. Habibi1

The radiotracer technetium-99m methoxyisobutyl isonitrile (99mTc-MIBI) has been widely used for myocardial blood flow imaging. We investigated the genotoxicity of 99mTc-MIBI in cultured human lymphocytes at the same concentration used in patients. Radioactivity doses were determined in whole blood at 5 min post-injection of 20 mCi 99mTc-MIBI in patients. .. Read More»

Genet. Mol. Res. 8(3):
vol8-3gmr602
DOI:
10.4238/vol8-3gmr602
Human Genetics   Research Article

Association between the interleukin-1�² C-511T polymorphism and periodontitis: a meta-analysis in the Chinese population

Authors: H.F. Wang, F.Q. He, C.J. Xu, D.M. Li, X.J. Sun, Y.T. Chi and W. Guo

The association between the interleukin-1 beta (IL-1β) C-511T (or rs16944) polymorphism and periodontitis remains inconclusive, even though there have been previous studies on this association. To assess the effects of IL-1β C-511T variants on the risk of development of periodontitis, a meta-analysis was performed in.. Read More»

Genet. Mol. Res. 16(1):
gmr16019315
DOI:
10.4238/gmr16019315
Human Genetics   Research Article

Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study

Authors: G.G. Ceylan1, C. Ceylan2 and H. Elyas3

Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complet.. Read More»

Genet. Mol. Res. 8(3):
vol8-3gmr616
DOI:
10.4238/vol8-3gmr616
Human Genetics   Research Article

Genetic instability and CpG methylation in the 5'-flanking region of the PAI-1 gene in Chinese patients with gastric cancer

Authors: J. Liu X. Li N. Yu Y.-Q. Yang X. Li Z.-Y. Ye J.-C. Li

We explored a possible correlation of genetic instability and CpG methylation in the 5'-flanking region of the PAI-1 gene with clinicopathologic features of gastric cancer in Chinese patients and looked for molecular markers for diagnosing gastric tumor development. Microsatellite instability and loss of heterozygosity of the PAI-1 gene locus D7S515, D7S471 .. Read More»

Genet. Mol. Res. 11(3):
2012.May.18.11
DOI:
10.4238/2012.May.18.11
Human Genetics   Research Article

Association between PPAR�³2 Pro12Ala polymorphism and myocardial infarction and obesity in Han Chinese in Hohhot, China

Authors: L.P. Wang L.R. Zhao H.W. Cui M.R. Yan L. Yang X.L. Su

Activation of the peroxisome proliferator-activated receptor g (PPARg) improves insulin sensitivity and inhibits atherosclerosis. Whether PPARg2 Pro12Ala polymorphism affects myocardial infarction is not clearly understood. We investigated a possible association of PPARg2 Pro12Ala polymorphism with obesity and myocardial infarction in Han Chinese in Hohho.. Read More»

Genet. Mol. Res. 11(3):
2012.May.18.13
DOI:
10.4238/2012.May.18.13
Human Genetics   Research Article

Genetic polymorphisms of EGF 5'-UTR and NAT2 857G/A associated with glioma in a case control study of Malaysian patients

Authors: K.A. Muthusamy L.H. Lian N. Vairavan K.H. Chua V. Wara

Studies of genetic mutations that have been used in predicting glioma prognosis have revealed a complex relationship between clinical and genetic factors. Epidermal growth factor (EGF) and the NAT2 gene play a central role in carcinogenesis. An adenine (A) to guanine (G) single nucleotide polymorphism at position 61 in the 5'-untranslated region (5'-UTR) of .. Read More»

Genet. Mol. Res. 11(3):
2012.June.15.7
DOI:
10.4238/2012.June.15.7