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Human Genetics

Human Genetics   Research Article

Isolation and characterization of microsatellite markers for Bertholletia excelsa (Lecythidaceae) population genetic analysis

Authors: P.S. Sujii1, P.W. Inglis2, A.Y. Ciampi2, V.N. Solferini1 and V.C.R. Azevedo2

Seven polymorphic microsatellite markers were developed and validated for Bertholletia excelsa (Brazil nut tree) population genetic studies. This species is a widespread monotypic Amazonian tree with high non-timber economic value. Unfortunately, Brazil nut production is currently less than 25% of historical production levels, because of extensive defores.. Read More»

Genet. Mol. Res. 13(4):
2013.November.7.2
DOI:
10.4238/2013.November.7.2
Human Genetics   Research Article

Inhibitory effect of microRNA-24 on fatty acid-binding protein expression on 3T3-L1 adipocyte differentiation

Authors: M. Kang1*, L.M. Yan2*, Y.M. Li3, W.Y. Zhang3, H. Wang3, A.Z. Tang1 and H.S. Ou3

We examined the effect of microRNAs on 3T3-L1 adipocyte differentiation and expression of adipocyte-specific gene fatty acid-binding protein 4 (FABP4). We screened and identified adipo-related microRNAs during 3T3-L1 adipocyte differentiation with a microRNA microarray. High expression plasmids of miR-24 and miR-21 were constructed and transfected into 3T.. Read More»

Genet. Mol. Res. 13(4):
2013.November.7.1
DOI:
10.4238/2013.November.7.1
Human Genetics   Research Article

Expression of tyrosine hydroxylase and growth-associated protein 43 in aging atrial fibrillation patients of Xinjiang Uygur and Han nationality

Authors: Y.D. Li1, J.X. Li1, B.-P. Tang1, T.Y. Gan1, G.J. Xu1, X.H. Zhou1, H. Li2,X. Guo2, A. Mahemuti1, Q. Sun3, Y.Y. Zhang1 and J. Wang1

The aim of this study was to explore the changes in gene and protein expressions of tyrosine hydroxylase (TH) and growth-associated protein 43 (GAP43) in aging atrial fibrillation patients of Xinjiang Uygur and Han nationality, and the significance of the changes. Real-time polymerase chain reaction and Western blot analysis were used to detect gene and p.. Read More»

Genet. Mol. Res. 13(4):
2013.October.30.10
DOI:
10.4238/2013.October.30.10
Human Genetics   Research Article

Three-dimensional digital visible heart model and myocardial pathological characteristics of fetal single ventricle connected with aortic coarctation

Authors: B. Ren1*, Y. Jiang1*, H.M. Xia1, X.Y. Li1, L.W. Tan2, Y. Li2, Q.Y. Li2,X.S. Li2 and Y.H. Gao1

This study aimed to provide data for imaging diagnosis and clinical surgical plans by reconstructing a three-dimensional (3-D) digital visible heart model of single ventricle (SV) connection with aortic coarctation (CoA) and characterizing the myocardial and vascular wall pathological characteristics. Fifteen miscarried fetus cadavers with SV and CoA were.. Read More»

Genet. Mol. Res. 13(4):
2013.October.30.9
DOI:
10.4238/2013.October.30.9
Human Genetics   Research Article

Y-STR haplotype diversity and population data for Central Brazil: implications for environmental forensics and paternity testing

Authors: T.C. Vieira, M.A.D. Gigonzac, D.M. Silva, R.G. Rodovalho, G.S. Santos and A.D. da Cruz

The central region of Brazil was colonized by internal migration of individuals of different origins, who contributed to the genetic diversity existing in this population. This study determined the allele frequencies and haplotype diversity of Y-STRs in Goiás State, Central Brazil, and compared the data obtained with a .. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.April.30.1
DOI:
http://dx.doi.org/10.4238/2014.April.30.1
Human Genetics   Research Article

Effects of mycophenolate mofetil on the expression of monocyte chemoattractant protein-1 and fibronectin in high glucose cultured human mesangial cells

Authors: F.Q. Chen, Q.Y. Wang, G.Z. Wei, X.Y. Ma, D.W. Ma, W.W. Deng and W.B. Sun

The effects of high glucose on the expression of monocyte chemoattractant protein-1 (MCP-1) and the main component of the extracellular matrix, fibronectin (FN), were explored in human mesangial cells (HMCs), along with the intervention effects of mycophenolate mofetil (MMF) on these indicators. Cultured HMCs were divided into.. Read More»

Genet. Mol. Res. 13(2):
2014.April.17.11
DOI:
10.4238/2014.April.17.11
Human Genetics   Research Article

Familial primary open-angle glaucoma: a case report

Authors: K. Shi, L. Zhao and C.Y. Wang

Primary open-angle glaucoma (POAG) is a disease that is often inherited, but the rules governing its inheritance are inconclusive. Herein, we report a case of POAG in a Chinese family. A 25-year-old female patient was referred to our department with progressive visual acuity decline in her left eye for the past 3 years. Ophthalmological examination suppor.. Read More»

Genet. Mol. Res. 13(2):
2014.April.17.12
DOI:
10.4238/2014.April.17.12
Human Genetics   Research Article

Cloning, sequencing, and polymorphisms of the Wistar-Imamichi rat growth hormone gene using PCR-SSCP

Authors: M.Q. Liu1, J.G. Wang2* and X.L. Li2*

We successfully cloned the Wistar-Imamichi (WI) rat growth hormone gene (GenBank accession: GQ890681), which contained 5 exons and 4 introns. Using the polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) technique, a novel missense substitution single nucleotide polymorphism was identified and tested for Hardy-Weinberg equilibrium.. Read More»

Genet. Mol. Res. 13(4):
2013.December.4.7
DOI:
10.4238/2013.December.4.7
Human Genetics   Research Article

Effect of variation of ABCB1 and GSTP1 on osteosarcoma survival after chemotherapy

Authors: J.Z. Li, Z.Q. Tian, S.N. Jiang and T. Feng

We conducted a comprehensive study to investigate the role of genes involved in metabolic and transport pathways in response to chemotherapy and clinical outcome of osteosarcoma patients. Genotyping of seven gene polymorphisms was performed on a 384-well plate format on the Sequenom MassARRAY platform in 162 patients with oste.. Read More»

Genet. Mol. Res. 13(2):
2014.April.25.3
DOI:
10.4238/2014.April.25.3
Human Genetics   Research Article

Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome

Authors: Y.H. Yang1*, F. Zhao1*, D.N. Feng1, J.J. Wang1, C.F. Wang1, J. Huang1, X.J. Nie1, G.Z. Xia1, G.M. Chen1 and Z.H. Yu1,2,3

Mutations in the Wilms' tumor suppressor gene (WT1) can lead to syndromic forms of steroid-resistant nephrotic syndrome (SRNS) such as Denys-Drash or Frasier syndrome and can cause isolated SRNS. A mutation within WT1 is a frequent cause of sporadic isolated SRNS in girls. In a worldwide cohort of girls, the rate of occurrence.. Read More»

Genet. Mol. Res. 13(4):
2013.December.4.5
DOI:
10.4238/2013.December.4.5