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Human Genetics

Human Genetics   Research Article

Loss of STAG2 causes aneuploidy in normal human bladder cells

Authors: X. Li, T.W. Zhang, J.L. Tang, P.P. Fa, J.X. Lu, F.M. Qi, Z.M. Cai, C.X. Liu and X.J. Sun

The aim of this study was to determine how the function of human stromal antigen 2 (STAG2) plays an important role in proper chromosome separation. STAG2 mRNA in normal bladder cells and bladder tumor cells was evaluated by RT-PCR. The protein levels of STAG2 in normal bladder cells and bladder tumor cells were determined by western blot. A cell prolifera.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.24
DOI:
http://dx.doi.org/10.4238/2015.March.30.24
Human Genetics   Research Article

Dynamic alterations of the tongue in obstructive sleep apnea-hypopnea syndrome during sleep: analysis using ultrafast MRI

Authors: Y. Wang, J.P. Mcdonald, Y. Liu, K. Pan, X. Zhang and R. Hu

Patients with obstructive sleep apnea-hypopnea syndrome (OSAHS) were evaluated using ultrafast magnetic resonance imaging (UMRI) while asleep and awake to analyze tongue changes. The upper airway of 21 OSAHS patients and 20 normal controls were examined during sleep using UMRI. A series of midline sagittal images of the upper .. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.17.7
DOI:
http://dx.doi.org/10.4238/2014.June.17.7
Human Genetics   Research Article

Effects of trans-10, cis-12 conjugated linoleic acid on gene expression and lipid metabolism of adipose tissue of growing pigs

Authors: A.A.F.B.V. Jos?©, M.A.S. Gama and D.D.P. Lanna

The objective of the present study was to determine the effects of trans-10, cis-12 conjugated linoleic acid (CLA) in adipose tissue explant cultures of growing pigs on the following responses: lipogenesis (measured as rate of 14C-labeled glucose incorporation over a subsequent 2-h incubation in the presence or absence of insu.. Read More»

Genet. Mol. Res. 7(2):
vol7-2gmr417
DOI:
10.4238/vol7-2gmr417
Human Genetics   Research Article

Administration of low-dose cyclosporine alone for the treatment of elderly patients with membranous nephropathy

Authors: M.X. Li, Y.W. Yu, Z.Y. Zhang, H.D. Zhao and F.L. Xiao

This study aimed to investigate the effects of administration of low-dose cyclosporine A (CsA) alone and the combination of low-dose CsA and a low-dose hormone for the treatment of elderly patients with membranous nephropathy. We divided 27 patients into two groups as follows: low-dose CsA group (group A) and the group receiving a combination of a low-dos.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.27
DOI:
http://dx.doi.org/10.4238/2015.March.30.27
Human Genetics   Research Article

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Authors: Y. Dong, S.C. Chen, X.W. Yu, E. Fadlalla, F. Jin and R.Z. Liu

23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We de.. Read More»

Genet. Mol. Res. 13(2):
http://dx.doi.org/2014.June.17.9
DOI:
http://dx.doi.org/10.4238/2014.June.17.9
Human Genetics   Research Article

Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm

Authors: Z.C. Li, H.J. Fu, Z.M. Wang, S. Yang2and H.Z. Xu

In this study, we investigated the correlation between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm (MPN) using real-time fluorescence quantitative PCR. The incidence of thrombus was monitored and blood and coagulation were routinely assayed in patients with MPN. The JAK2V617F mutation was.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038423
DOI:
10.4238/gmr.15038423
Human Genetics   Research Article

miR-146a and miR-196a2 polymorphisms in ovarian cancer risk

Authors: X.C. Sun, A.C. Zhang, L.L. Tong, K. Wang, X. Wang, Z.Q. Sun and H.Y. Zhang

We investigated the relationship between miR-146a and miR-196a2 genetic polymorphisms and development of ovarian cancer in a Chinese population. A total of 134 patients and 227 control subjects were involved in our study between January 2012 and October 2014 from China-Japan Union Hospital of Jilin University. Genotyping of mi.. Read More»

Genet. Mol. Res. 15(3):
gmr.15038468
DOI:
10.4238/gmr.15038468
Human Genetics   Research Article

MicroRNA variants and colorectal cancer risk: a meta-analysis

Authors: X.M. Pan, X. Xiao, H.J. Qin, Z. Zhang, Z.H. Li, L.B. Gao and J. Jia

Colorectal cancer (CRC) is a multi-factorial disease, and genetic background may contribute to its etiology. Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) may be used as specific markers of predisposition for CRC diagnosis and preventionIn this review, we summarize and discuss recent publications evaluating the .. Read More»

Genet. Mol. Res. 15(3):
gmr.15038478
DOI:
10.4238/gmr.15038478
Human Genetics   Research Article

Human papillomavirus viral load in cervical intraepithelial neoplasia as a prognostic factor in a Mexican population

Authors: A.E. Bencomo-?lvarez, I. Limones-Perches, A.E. Su?¡rez-Rinc?³n, L.J. Ram?­rez-Jirano, E. Borrayo-Carbajal, J. S?¡nchez-Corona and H. Montoya-Fuentes

Persistent infection with human papillomavirus (HPV) has been recognized as the main etiological factor of morbimortality in cervical cancer. Several factors have been associated with the development of cervical disease, but viral load has recently been proposed as an indicator of cervical neoplasia. Therefore, a single measur.. Read More»

Genet. Mol. Res. 11(4):
2012.October.4.2
DOI:
10.4238/2012.October.4.2
Human Genetics   Case Reports

Overwhelming postsplenectomy infection

Authors: C.-F. Sheng, B.-Y. Liu, H.-M. Zhang and X. Zheng

This report aims to deepen the understanding of the pathogenesis, diagnosis, clinical characteristics, and treatment of overwhelming postsplenectomy infection (OPSI). A patient treated at Taihe Hospital for tuberculous OPSI is described, and relevant literature is reviewed. Broad-spectrum antibiotics, suppression of the systemic inflammatory reaction, and.. Read More»

Genet. Mol. Res. 14(1):
http://dx.doi.org/2015.March.30.30
DOI:
http://dx.doi.org/10.4238/2015.March.30.30