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Human Genetics

Human Genetics   Research Article

RUNX3 promoter methylation correlation with pathogenesis of hepatocellular carcinoma in Asians

Authors: W. Lu, Y. Liu, L-L. Liu and P.-H. Zhuang

The aim of this study was to elucidate the role of RUNX3 promoter methylation in the pathogenesis of hepatocellular carcinoma (HCC) among Asians. For this purpose, we performed a comprehensive search of Chinese and English language scientific literature databases using stringent selection criteria; ultimately, we identified re.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027444
DOI:
10.4238/gmr.15027444
Human Genetics   Research Article

Involvement of the MAPK pathway in the pressure-induced synovial metaplasia procedure for the temporomandibular joint

Authors: M.J. Wu, H.P. Lu, Z.Y. Gu and Y.Q. Zhou

Abnormal pressure is an important factor that contributes to bone adaptation in the temporomandibular joint (TMJ). We determined the effect of the mitogen-activated protein kinases (MAPK) pathway on the pressure-induced synovial metaplasia procedure for the TMJ, both in vitro and in vivo. Synovial fibroblasts (SFs) were exacte.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027499
DOI:
10.4238/gmr.15027499
Human Genetics   Research Article

Fas-FasL expression and myocardial cell apoptosis in patients with viral myocarditis

Authors: T.F. Huang, X.H. Wu, X. Wang and I.J. Lu

The aim of the current study was to investigate Fas and FasL expression and myocardial cell apoptosis in viral myocarditis patients. Human heart specimens were selected from patients who were autopsied between February 2012 and February 2015; of these, 25 patients were diagnosed with viral myocarditis. Another 15 cases with no.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027607
DOI:
10.4238/gmr.15027607
Human Genetics   Research Article

Expression of recombinant human anti-TNF-�± scFv-Fc in Arabidopsis thaliana seeds

Authors: N. Yao, L. Ai, Y.Y. Dong, X.M. Liu, D.Z. Wang, N. Wang, X.W. Li,F.W. Wang, XK. Li, H.Y. Li and C. Jiang

Recombinant human anti-tumor necrosis factor (TNF)-α scFv-Fc was expressed in TKO mutant Arabidopsis thaliana seeds using plant-specific codons. Immunoblotting using a human IgG1 antibody detected the expression of anti-TNF-α proteins in plants. Results from qRT-PCR analysis demonstrated that the time of harvest si.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027726
DOI:
10.4238/gmr.15027726
Human Genetics   Research Article

Prevalence of human papillomavirus (HPV) type 16 variants and rare HPV types in the central Amazon region

Authors: M.M. Castro, I.P. Farias, C.M. Borborema-Santos, G. Correia and S. Astolfi-Filho

Infection by human papillomavirus (HPV) is one of the primary causes of mortality by cancer in northern Brazil. Sexually active women from Manaus, Amazonas, without cytological alterations and women with pre-malignant and malignant cytological alterations were examined for HPV virus, identified via PCR and sequencing. The targ.. Read More»

Genet. Mol. Res. 10(1):
vol10-1gmr992
DOI:
10.4238/vol10-1gmr992
Human Genetics   Research Article

Mutation characteristics in type I collagen genes in Chinese patients with osteogenesis imperfecta

Authors: Z. Yang, Z.F. Ke, C. Zeng, Z. Wang, H.J. Shi and L.T. Wang

Osteogenesis imperfecta is normally caused by an autosomal dominant mutation in the type I collagen genes COL1A1 and COL1A2. The severity of osteogenesis imperfecta varies, ranging from perinatal lethality to a very mild phenotype. Although there have been many reports of COL1A1 and COL1A2 mutations, few cases have been report.. Read More»

Genet. Mol. Res. 10(1):
vol10-1gmr984
DOI:
10.4238/vol10-1gmr984
Human Genetics   Research Article

SNP at miR-483-5p-binding site in the 3'-untranslated region of the BSG gene is associated with susceptibility to esophageal cancer in a Chinese population

Authors: H.Y. Li, Y.C. Liu, Y.H. Bai, M. Sun, L. Wang, X.B. Zhang and B. Cai

The aim of this study was to investigate the association between a functional variant of the basigin (BSG) gene, caused by a polymorphism (rs11473) at the miR-483-5p binding site, and the risk of esophageal squamous cell carcinoma (ESCC) in the Chinese population. The rs11473 polymorphism was genotyped in 624 esophageal cancer.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027735
DOI:
10.4238/gmr.15027735
Human Genetics   Research Article

Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese

Authors: T.Q. Zhou, H.J. Guan and J.Y. Hu

The aim of this study was to identify disease-associated loci in oldest old Han Chinese with atrophic age-related macular degeneration (AMD). This genome-wide association study (GWAS) only included oldest old (≥95 years old) subjects in Rugao County, China. Thirty atrophic AMD patients and 47 age-matched non-AMD controls were enrolled. The study subjec.. Read More»

Genet. Mol. Res. 14(4):
2015.December.21.13
DOI:
10.4238/2015.December.21.13
Human Genetics   Research Article

Differentiation between Triatoma arthurneivai and Triatoma wygodzinskyi (Hemiptera: Reduviidae: Triatominae) using cytotaxonomy

Authors: K.C.C. Alevi, C.H.L. Imperador, F.F.F. Moreira, J. Jurberg and M.T.V. Azeredo-Oliveira

Using classic morphometric techniques to examine the head and thorax of Triatoma specimens, researchers identified a possible taxonomic problem involving T. arthurneivai (Lent & Martins) and T. wygodzinskyi (Lent). A recent geometric morphometric study indicated that the insects captured outside the Serra do Cipó re.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027869
DOI:
10.4238/gmr.15027869
Human Genetics   Research Article

Transcriptome analysis and de novo annotation of the critically endangered Amur sturgeon (Acipenser schrenckii)

Authors: X.J. Zhang, H.Y. Jiang, L.M. Li, L.H. Yuan and J.P. Chen

The aim of this study was to provide comprehensive insights into the genetic background of sturgeon by transcriptome study. We performed a de novo assembly of the Amur sturgeon Acipenser schrenckii transcriptome using Illumina Hiseq 2000 sequencing. A total of 148,817 non-redundant unigenes with base length of approximately 12.. Read More»

Genet. Mol. Res. 15(2):
gmr.15027999
DOI:
10.4238/gmr.15027999