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Human Genetics

Human Genetics   Research Article

Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report

Authors: D.H. Cao, K. Mu, D.N. Liu, J.L. Sun, X.Z. Bai, N. Zhang, G.B. Qiu and X.W. Ma

Birth defects are structural and/or functional malformations present at birth that cause physical or mental disability and are important public health problems. Our study was aimed at genetic analysis and prenatal diagnosis of congenital anomalies to understand the cause of certain birth defects. Karyotypes and array-comparative genomic hybridization (aCG.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.8
DOI:
10.4238/2015.May.11.8
Human Genetics   Research Article

Functional polymorphisms in microRNA gene and hepatitis B risk among Asian population:a meta-analysis

Authors: G.Q. Zhou, H. Meng, J.R. Wang, F.X. Sun, X.J. Wang, R.B. Wang and X.B. Wang

Genetic mutations in microRNA gene can alter expression, which may interact to increase the risk of developing various diseases, including hepatitis B. However, published results are inconclusive or ambiguous. The aim of this review and meta-analysis is to more precisely estimate the association between polymorphisms in microRNA genes and hepatitis B risk.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.9
DOI:
10.4238/2015.May.11.9
Human Genetics   Research Article

Effects of analgesia methods on serum IL-6 and IL-10 levels after cesarean delivery

Authors: Z.-M. Xing, Z.-Q. Zhang, W.-S. Zhang and Y.-F. Liu

This study aimed to discuss the effects of 3 different analgesia methods on serum IL-6 and IL-10 in patients after cesarean delivery. Thirty full-term women, who underwent cesarean delivery, were randomly assigned to 3 analgesia groups (10 cases each) as follows: intramuscular injection of 100 mg pethidine (NC group), patient controlled epidural analgesia.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.10
DOI:
10.4238/2015.May.11.10
Human Genetics   Research Article

Effect of co-culturing human primary basic fibroblasts with respiratory syncytial virus-infected 16-HBE cells

Authors: J.-H. Wang, L.-H. Sun, S.-K. Huang and A.-H. Chen

This study investigated the effects induced by co-culturing human primary basic fibroblasts (HPBFs) with 16-human bronchial epithelial cells (16-HBE) infected with respiratory syncytial virus (RSV), in particular the transformation of HPBFs into myofibroblasts and secretion of extracellular matrix proteins. HPBFs were co-cultured with 16-HBE cells infecte.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017339
DOI:
10.4238/gmr.15017339
Human Genetics   Research Article

Microsatellite marker analysis reveals the distinction between the north and south groups of hard clam (Meretrix meretrix) in China

Authors: X.F. Gu, Y.H. Dong, H.H. Yao, X.L. Zhou, X.Y. Qi and Z.H. Lin

Meretrix meretrix is one of the important commercial bivalves in China. A total of 198 individual clams were collected from 5 locations characteristic of the clam’s 5 main natural habitats in China, that is, Shandong, Jiangsu, Fujian, Guangdong, and Guangxi. Ten polymorphic microsatellite markers were selected to examine the genetic diversity and id.. Read More»

Genet. Mol. Res. 14(1):
2015.February.6.23
DOI:
10.4238/2015.February.6.23
Human Genetics   Research Article

Association between SNPs in vascular endothelial growth factor polymorphisms and risk of renal cell carcinoma: a case-control study

Authors: B.-L. Shen, Q.-S. Qu, S.-Z. Miao and Y.-X. Zhang

We conducted this case-control study to assess the role of the VEGF -2578C/A, +1612G/A, +936C/T and -634G/C gene polymorphisms in the development of renal cell carcinoma (RCC). A hospital-based case-control study was conducted in a 360 consecutive primary RCC patients and 360 age and gender-matched controls during January 2010 and January 2014. The polyme.. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.5
DOI:
http://dx.doi.org/10.4238/2015.September.22.5
Human Genetics   Research Article

Absolute quantification of free tumor cells in the peripheral blood of gastric cancer patients

Authors: N. Bayat, M.M. Mokhtari, M. Rezaei-Tavirani, A. Baradaran-rafii, S. Rahman Zadeh, S. Heidari-Keshel and F. Ghasemvand

Gastric cancer remains the third most common cancer in the world. Metastatic disease is a major cause of death in about half of the patients; therefore, early diagnosis is crucial for successful outcome. This study applied a sensitive method for the detection of circulating tumor cells using specific tumor markers for early de.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.16.1
DOI:
http://dx.doi.org/10.4238/2014.June.16.1
Human Genetics   Research Article

Glutathione S-transferase polymorphisms influence chemotherapy response and treatment outcome in breast cancer

Authors: J. Wang, T. Wang, G.-Y. Yin, L. Yang, Z.-G. Wang and X.-B. Bu

The aim of this study was to evaluate the role of GSTM1 null/present, GSTT1 null/present, and GSTP1 IIe105Val polymorphisms in the clinical response to chemotherapy and treatment outcome of patients with breast cancer. A total of 262 subjects were randomly selected from among patients with a histologically confirmed breast cancer. The genotypes of GSTM1, .. Read More»

Genet. Mol. Res. 14(3):
http://dx.doi.org/2015.September.22.6
DOI:
http://dx.doi.org/10.4238/2015.September.22.6
Human Genetics   Research Article

Cyclic adenosine monophosphate-protein kinase A signal pathway may be involved in pulmonary aquaporin-5 expression in ischemia/reperfusion rats following deep hypothermia cardiac arrest

Authors: Z.Y. Wu1*, Y. Yao2*, R. Hu1, F.F. Dai1, H. Zhang1 and Z.F. Mao1

We investigated the effects of cyclic adenosine monophosphate-protein kinase A (cAMP-PKA) on the expression of aquaporin 5 (AQP5) in ischemia/reperfusion (I/R) rats following deep hypothermia cardiac arrest. Wistar rats were randomly divided into: a sham control group (subjected to a sham operation); an I/R group (subjected to occlusion of the bronchial a.. Read More»

Genet. Mol. Res. 15(1):
gmr.15017377
DOI:
10.4238/gmr.15017377
Human Genetics   Research Article

Relationship between carotid artery atherosclerosis and sulfatide in hypertensive patients

Authors: G. Li, R. Hu, J. Gu and H.-Z. Wu

Hypertension is a major traditional risk factor for atherosclerosis, and carotid artery intima-media thickness (IMT) is considered to be an important marker of atherosclerosis. Sulfatides have been shown to play a role in atherogenesis and vascular inflammation, resulting in atherosclerosis. This study aimed to assess the association between serum sulfati.. Read More»

Genet. Mol. Res. 14(2):
2015.May.11.16
DOI:
10.4238/2015.May.11.16