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Medical Genetics

Medical Genetics   Research Article

Forkhead box protein O1 mediates apoptosis in a cancer cervical cell line treated with the antitumor agent tumor necrosis factor-�±

Authors: B. Zhang, L. Gui, L. Zhu, X. Zhao, Y. Yang and Q. Li

Tumor necrosis factor-α (TNF-α) is an important pro-apoptotic cytokine, which performs a broad range of immune and inflammatory functions in several vital processes. TNF-α-induced apoptosis has been confirmed, however, relatively little is known regarding the role of forkhead box class-O 1 (FOXO1) in mediating TNF-α-induced apoptos.. Read More»

Genet. Mol. Res. 14(3):
2015.July.3.20
DOI:
10.4238/2015.July.3.20
Medical Genetics   Research Article

A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita

Authors: Calliari LEP, Longui CA, Rocha MN, Faria CDC, Kochi C, Melo MR, Melo MB and Monte O

Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptoma.. Read More»

Genet. Mol. Res. 6(2):
Medical Genetics   Research Article

Accuracy of enzyme-linked immunospot assay for diagnosis of pleural tuberculosis: a meta-analysis

Authors: Z.Z. Li, W.Z. Qin, L. Li, Q. Wu and Y.J. Wang

Current methods for diagnosing tuberculous pleurisy are poor. Some studies have explored the diagnostic value of a pleural effusion enzyme-linked immunospot (ELISPOT) assay, but its accuracy remains controversial. Therefore, we performed a meta-analysis of the existing evidence on the ability of the ELISPOT assay to diagnose tuberculous pleurisy. We syste.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.28.19
DOI:
http://dx.doi.org/10.4238/2015.September.28.19
Medical Genetics   Research Article

Apoptotic effect of sodium acetate on a human gastric adenocarcinoma epithelial cell line

Authors: Y. Xia, X.L. Zhang, F. Jin, Q.X. Wang, R. Xiao, Z.H. Hao, Q.D. Gui and J. Sun

The objective of this study was to investigate the effect of sodium acetate on the viability of the human gastric adenocarcinoma (AGS) epithelial cell line. AGS cells were exposed to a range of concentrations of sodium acetate for different periods of time, and the sodium acetate-induced cytotoxic effects, including cell viabi.. Read More»

Genet. Mol. Res. 15(4):
gmr.15048375
DOI:
10.4238/gmr.15048375
Medical Genetics   Research Article

Identification and analysis of phospholipid transfer protein polymorphisms and their association with marbling score in Hanwoo (Korean cattle)

Authors: J. Seong, J.D. Oh, H.K. Lee, G.J. Jeon and H.S. Kong

Phospholipid transfer protein (PLTP) regulates high-density lipoprotein metabolism. The gene encoding PLTP is located on bovine chromosome 13. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the Hanwoo (Bos taurus coreanae) PLTP gene to detect novel mutations affecting economically important traits. Five SNPs were ide.. Read More»

Genet. Mol. Res. 12(1):
2013
DOI:
10.4238/2013
Medical Genetics   Research Article

Role of APN and TNF-�± in type 2 diabetes mellitus complicated by nonalcoholic fatty liver disease

Authors: X. Lin, Z. Zhang, J.M. Chen, Y.Y. Xu, H.R. Ye, J. Cui, Y. Fang,Y. Jin, D.R. Zhu and L. Yuan

Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease caused by non-excessive alcohol consumption and is the most common cause of elevated levels of serum liver enzymes. We examined changes in adiponectin (APN) and tumor necrosis factor-a (TNF-a) in type 2 diabetes mellitus (T2DM) complicated by NAFLD and their relationships with insulin resis.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.1
DOI:
http://dx.doi.org/10.4238/2015.April.10.1
Medical Genetics   Case Reports

Local skin flap with vacuum-seal drainage to facilitate healing of ACS

Authors: R.B. Luo, Y.A. Xu, H.M. Zhong and Y.F. Zhang

The purpose of this study was to analyze the therapy of a severe abdominal compartment syndrome (ACS) to elucidate the use of an abdominal advanced flap with other supportive measures for restoration of large defects of the abdominal wall. A patient presented with a large defect of the abdominal wall caused by ACS, which had resulted from multiple injurie.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.3
DOI:
http://dx.doi.org/10.4238/2015.April.10.3
Medical Genetics   Research Article

Effects of musk ketone on nerve recovery after spinal cord injury

Authors: L. Guo, Z.X. Quan, Z.H. Zhao, K. Tang, Y.S. Ou and D.M. Jiang

The present study aimed to determine the effects of musk ketone on nerve recovery in rats after spinal cord injury. A total of 105 SD female rats were used to establish the rat with dorsal spinal cord injury model (modified Allen’s method). The rats weighed from 200 to 250 g and were provided by the Experimental Animal Center of Chongqing Medical Un.. Read More»

Genet. Mol. Res. 14(2):
http://dx.doi.org/2015.April.10.4
DOI:
http://dx.doi.org/10.4238/2015.April.10.4
Medical Genetics   Research Article

Analysis of blood processing conditions to obtain high-quality total RNA from human leukocyte concentrate

Authors: Perez IAG, Santana SP, Argudin TD and Gardon DOP

Blood samples are used as a biological source to discover biomarkers of hematological and non-hematological disorders. The present study shows the impact of different experimental conditions associated with cell lysis buffer, TRI-reagent protocol and blood cell storage buffer and their correlation with the quantity, quality an.. Read More»

Genet. Mol. Res. 6(2):
Medical Genetics   Case Reports

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation

Authors: Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H and Colah RB

Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by .. Read More»

Genet. Mol. Res. 6(2):