Medical Genetics
Expression and clinical value of the soluble major histocompatibility complex class I-related chain A molecule in the serum of patients with renal tumors
Authors: Y.-K. Zhao, C.-M. Jia, G.-J. Yuan, W. Liu, Y. Qiu and Q.-G. Zhu
We investigated the expression and clinical value of the soluble major histocompatibility complex class I-related chain A (sMICA) molecule in the serum of patients with renal tumors. Sixty patients diagnosed with renal tumors were enrolled in the experimental group, whereas 20 healthy volunteers served as the control group. The sMICA levels were measured .. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.29.16
- DOI:
- 10.4238/2015.June.29.16
Correlation of UGT1A1 and ERCC1 gene polymorphisms with the outcome of combined irinotecan plus cisplatin treatment in recurrent ovarian cancer
Authors: Q. Xu, Y.Y. Ding, L.X. Song andJ.F. Xu
The aim of this study was to define the genotypes of UGT1A1 and ERCC1 and to examine their relationship with the efficacy and toxicity of a combination therapy of irinotecan and cisplatin in patients with advanced ovarian cancer. The allelic frequencies of the UGT1A1 and ERCC1 variants in a group of 89 patients with advanced ovarian cancer were determined.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.29.17
- DOI:
- 10.4238/2015.June.29.17
Influence of vascular endothelial growth factor and alpha-fetoprotein on hepatocellular carcinoma
Authors: E.Y. Yvamoto, R.F. Ferreira, V. Nogueira, M.A.S. Pinhel, G.D. Tenani, J.G.S.C. Andrade, M.E.L. Baitello, M.L. Greg�³rio, P.S. Fucuta, R.F. Silva, D.R.S. Souza and R.C.M.A. Silva
We evaluated the influence of the vascular endothelial growth factor (VEGF) -C936T polymorphism on prognosis of hepatocellular carcinoma (HCC), cirrhosis, and hepatitis C virus (HCV) infection. Serum VEGF and alpha-fetoprotein (AFP) levels were determined and used to characterize sensitivity and specificity. A total of 285 subjects were studied: 68 HCC, 1.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.16
- DOI:
- 10.4238/2015.December.21.16
Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses
Authors: I.N. Machado, J.K. Heinrich, R. Barini and C.F.A. Peralta
Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a grou.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr1001
- DOI:
- 10.4238/vol10-1gmr1001
A computational method to predict carbonylation sites in yeast proteins
Authors: H.Q. Lv,, J. Liu, J.Q. Han, J.G. Zheng and R.L. Liu
Several post-translational modifications (PTM) have been discussed in literature. Among a variety of oxidative stress-induced PTM, protein carbonylation is considered a biomarker of oxidative stress. Only certain proteins can be carbonylated because only four amino acid residues, namely lysine (K), arginine (R), threonine (T) .. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028006
- DOI:
- 10.4238/gmr.15028006
Persistent glucocorticoid resistance in systemic lupus erythematosus patients during clinical remission
Authors: A.K.G. Melo, M.R. Melo, A.B.A. Saramago, G. Demartino, B.D.B. Souza and C.A. Longui
Glucocorticoids (GCs) are key drugs in the treatment of systemic lupus erythematosus (SLE). GC dose reduction during remission is related to disease activity, GC dose used, length of treatment, and individual GC sensitivity. We compared GC receptor α (GRα) isoform and nuclear factor kappaB (NF-κB) messenger RNA quantitation and in vivo G.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.February.19.1
- DOI:
- 10.4238/2013.February.19.1
Association between ERCC1 and ERCC2 gene polymorphisms and susceptibility to pancreatic cancer
Authors: M.G. He, K. Zheng, D. Tan and Z.X. Wang
We conducted a study to investigate the association between ERCC1 (rs3212986) and ERCC2 (rs13181) gene polymorphisms and the risk of pancreatic cancer in a Chinese population. A total of 217 pancreatic cancer patients and 244 control subjects were recruited from the Nuclear Industry 215 Hospital of Shaanxi Province between February 2013 and December 2014... Read More»
- Genet. Mol. Res. 15(1):
- gmr.15017879
- DOI:
- 10.4238/gmr.15017879
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children
Authors: X.H. Fu, W.Q. Zhang and X.S. Qu
We performed an exploratory study by analyzing the correlation of 46, XY disorders of sex development (46, XY DSD) with androgen receptor (AR) and steroid 5α-reductase-2 (SRD5A2) gene mutations and a safety analysis of dihydrotestosterone (DHT) gel treatment for pediatric micropenis. We collected samples from 76 pediatric patients with 46, XY DSD an.. Read More»
- Genet. Mol. Res. 15(1):
- gmr.15018232
- DOI:
- 10.4238/gmr.15018232
A case-control study of CYP2E1 (PstI) and CYP1A1 (MspI) polymorphisms in colorectal cancer
Authors: M.A. Proen�§a, G.M.M. Fernandes, A. Russo, R.B. Lelis, J.G. Netinho, G.S. Cunrath, A.E. Silva, E.M. Goloni-Bertollo and E.C. Pavarino
Polymorphisms in genes encoding P450 cytochrome enzymes may increase the risk of sporadic colorectal cancer (SCRC). Here we investigated the association between SCRC and CYP2E1 (PstI) and CYP1A1 (MspI) polymorphisms in a case-control study. Moreover, we sought to determine any possible associations between this disease and the sociodemographic factors. We.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.22.10
- DOI:
- 10.4238/2015.December.22.10
Chemokine receptor CXCR4 and its ligand CXCL12 expressions and clinical significance in bladder cancer
Authors: D.L. Yang, M.M. Xin, J.S. Wang, H.Y. Xu, Q. Huo, Z.R. Tang and H.F. Wang
It is well known that chemokine receptors and their ligands play important roles in mediating the invasion and metastasis of malignant tumors. This aim of this study was to investigate the expression and clinical significance of chemokine receptor CXCR4 and its ligand CXCL12 in bladder tumor tissues. Cancerous and adjacent normal bladder tissues were coll.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.43
- DOI:
- 10.4238/2015.December.21.43