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Medical Genetics

Medical Genetics   Research Article

Investigation of polymorphisms in exon7 of the NSUN7 gene among Chinese Han men with asthenospermia

Authors: H.Y. Ren, R. Zhong, X.P. Ding, Z.Y. Chen and Y.L. Jing

Previous studies have shown that genetic polymorphisms in exon7 of the NSUN7 gene can be used as an infertility marker in Iranian men with asthenospermia. However, there have been no equivalent studies in China. In the present study, we investigated the possible association between the genetic polymorphisms in exon7 of NSUN7 and asthenospermia in a Chines.. Read More»

Genet. Mol. Res. 14(3):
2015.August.10.6
DOI:
10.4238/2015.August.10.6
Medical Genetics   Research Article

New compound heterozygous mutations of p. Thr101Ilefs*2 and p. Thr306Ale in a child from a Chinese family with 17�?±-hydroxylase/17, 20-lyase deficiency

Authors: H. Xiao, H. Zhang, T. Li, D. Wu, L.T. Qin, T. Wang, B. Zhang and S.X. Liao

We determined whether a child with 17a-hydroxylase/17, 20-lyase deficiency possessed the sex-determining region (SRY) gene, and examined the mutations present in the CYP17A1 gene that led to 17a-hydroxylase/17, 20-lyase deficiency. In the child, karyotype analysis was performed and polymerase chain reaction analysis and electrophoretic techniques were use.. Read More»

Genet. Mol. Res. 14(3):
2015.August.10.12
DOI:
10.4238/2015.August.10.12
Medical Genetics   Research Article

P1BS, a conserved motif involved in tolerance to phosphate starvation in soybean

Authors: L.H. Li, N. Guo, Z.Y. Wu, J.M. Zhao, J.T. Sun, X.T. Wang and H. Xing

Available phosphate (Pi) is a major limiting factor for plant growth, development, and productivity. Phosphate starvation response 1 (PHR1) is a binding dimer that binds to an imperfect palindromic sequence. PHR1-binding sequences (GnATATnC) exist in the promoter of Pi starvation-responsive structural genes, indicating an effect occurring downstream in th.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.2
DOI:
10.4238/2015.August.14.2
Medical Genetics   Research Article

Frequency of SNP -336A/G in the promoter region of CD209 in a population from northeastern Brazil

Authors: P.N. Costa, H. Ferreira-Fernandes, J.S. de Oliveira, A.C.T.C. Pereira, G.R. Pinto and G.P. Ferreira

Dendritic cells (DCs) mediate the initiation of the immune response against a variety of pathogens. The DC-SIGN receptor is encoded by the gene CD209 and is expressed on the surface of DCs. It binds to mannose-rich carbohydrates and enables the recognition of bacteria, fungi, parasites, and viruses. SNP -336A/G in the promoter region of CD209 influences t.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.3
DOI:
10.4238/2015.August.14.3
Medical Genetics   Research Article

In silico identification and analysis of phytoene synthase genes in plants

Authors: Y. Han, Q.S. Zheng, Y.P. Wei, J. Chen, R. Liu and H.J. Wan

In this study, we examined phytoene synthetase (PSY), the first key limiting enzyme in the synthesis of carotenoids and catalyzing the formation of geranylgeranyl pyrophosphate in terpenoid biosynthesis. We used known amino acid sequences of the PSY gene in tomato plants to conduct a genome-wide search and identify putative candidates in 34 sequenced plan.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.5
DOI:
10.4238/2015.August.14.5
Medical Genetics   Research Article

Plasma exchange parameter selection and safety observation of children with severe ricinism

Authors: G.M. Chen,Z.H. Yu,X.J. Nie,Z. Li,Z.W. Sun,Z.F. Weng,Y.Y. Yang,S.L. Chen,C.F. Wang,S.R. Zheng,Y.Y. Luo, Y.T. Lu,H.Q. Cao and H.X. Zhan

The aim of this study was to investigate the selection of plasma exchange (PE) parameters and the safety of children with severe ricinism. The PE parameters and heparin dosage in 7 children with severe ricinism were recorded, and changes in the patients’ vital signs and coagulation function were monitored before and after PE. All patients successful.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.27.32
DOI:
http://dx.doi.org/10.4238/2015.April.27.32
Medical Genetics   Research Article

Prognostic value of miR-141 downregulation in gastric cancer

Authors: Y.B. Lu, J.J. Hu, W.J. Sun, X.H. Duan and X. Chen

Previous research has shown that microRNA-141 (miR-141) expression levels are associated with survival in several types of cancer. In the present study, we investigated the clinical significance and prognostic value of miR-141 in gastric cancer. Paired tissue specimens (tumor and adjacent normal mucosa) from 95 patients with gastric cancer were obtained a.. Read More»

Genet. Mol. Res. 14(4):
2015.December.16.31
DOI:
10.4238/2015.December.16.31
Medical Genetics   Research Article

MicroRNA profiling in cutaneous wounds of diabetic rats

Authors: Y.-F. Liu, M. Ding, D.-W. Liu, Y. Liu, Y.-G. Mao and Y. Peng

Despite years of effort, current therapies for diabetic wounds are still not fully efficacious. Emerging evidence has suggested that microRNAs (miRNAs) play key roles in multiple physiological and pathological processes in eukaryotes, and could potentially be powerful therapeutic tools. This study investigated the differential expression profiling of miRN.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.24
DOI:
10.4238/2015.August.14.24
Medical Genetics   Research Article

Estimating the genetic parameters for liver fat traits in broiler lines divergently selected for abdominal fat

Authors: M.J. Liang, Z.P. Wang, L. Xu, L. Leng1, S.Z. Wang, P. Luan, Z.P. Cao, Y.M. Li and H. Li

Intensive selection of broilers for improved growth rate is known to exert a negative effect on broiler health, such as an increase in body fat (and its related diseases). Excessive fat deposition in the liver can cause fatty liver hemorrhagic syndrome (FLHS); in addition, traits associated with liver fat have also been associated with FLHS. This study ex.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.27
DOI:
10.4238/2015.August.14.27
Medical Genetics   Research Article

Polymorphisms in the promoter regions of the CXCL1 and CXCL2 genes contribute to increased risk of alopecia areata in the Korean population

Authors: S.K. Kim, J-H. Chung, H.J. Park, S.W. Kang, D.-J. Lim, S.H. Byun, D.G. Baek, H.Y. Ko, B.-L. Lew, H.H. Baik and W.-Y. Sim

Alopecia areata (AA) is a common disease, which causes hair loss in humans. AA has a genetically complex inheritance. This study investigated the possible correlations between single nucleotide polymorphisms (SNPs) in the promoter regions of the chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1) and chemokine (C-X-C mot.. Read More»

Genet. Mol. Res. 14(3):
2015.August.14.29
DOI:
10.4238/2015.August.14.29