Medical Genetics
Meta-analysis of STAT4 and IFIH1 polymorphisms in type 1 diabetes mellitus patients with autoimmune polyglandular syndrome type III
Authors: J. de Azev�ªdo Silva, N.A.C. Tavares, M.M.S. Santos, R. Moura, R.L. Guimar�£es, J. Ara�ºjo, S. Crovella and L.A.C. Brand�£o
Type 1 diabetes mellitus (T1D) is an organ-specific autoimmune disease characterized by T-cell mediated self-destruction of insulin-producing β cells in the pancreas. T1D patients are prone to develop other glandular autoimmune disorders, such as autoimmune thyroid disease that occurs simultaneously with autoimmune polyglandular syndrome type III (AP.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.21.46
- DOI:
- 10.4238/2015.December.21.46
Pooled analysis of association between a genetic variant in the 3'-untranslated region of Toll-like receptor 4 and cancer risk
Authors: X. Wang, Z. Xu and C.H. Miao
Many epidemiological studies have shown the association between certain genetic variations in the Toll-like receptor 4 (TLR4) gene (for example, rs4986790 and rs4986791) and cancer risk. However, the results from investigations into the association between rs11536889, a genetic variant in the 3'-untranslated region of TLR4, and cancer risk lack consensus... Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.22.9
- DOI:
- 10.4238/2015.December.22.9
Muscle pain, fever, cough, and progressive dyspnea in a woman with eosinophilic pneumonia
Authors: Z. Xu,Y. Fan,G.S. Wang and G.M. Wu
The diagnosis of eosinophilic pneumonia (EP) is rare and challenging. This condition is frequently misdiagnosed as pulmonary tuberculosis, lymphoma, schistosomiasis, Wegener’s granuloma, severe acute respiratory syndrome, or severe community-acquired pneumonia. Herein, we report a case in which computed tomography (CT)-guided percutaneous lung biops.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.28.1
- DOI:
- http://dx.doi.org/10.4238/2015.April.28.1
Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment
Authors: J.S. Carrasco-Miranda, R. Garcia-Alvarez, R.R. Sotelo-Mundo, O. Valenzuela, M.A. Islas-Osuna and N. Sotelo-Cruz
Human nephrotic syndrome has been related to mutations in glomerular proteins. Mutations in the NPHS2 gene that encodes podocin have been described as responsible for steroid-resistant nephrotic syndrome. It has been advised to test for NPHS2 mutations in parallel or before giving steroid treatment in nephrotic syndrome patients in order to avoid unnecess.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.June.24.1
- DOI:
- 10.4238/2013.June.24.1
Correlation of miR-494 expression with tumor progression and patient survival in pancreatic cancer
Authors: Y.B. Ma, G.X. Li, J.X. Hu, X. Liu and B.M. Shi
MicroRNA-494 (miR-494) expression is aberrant in various types of human cancer. However, the prognostic value of miR-494 in pancreatic cancer remains unclear. The level of miR-494 expression was determined in 99 pairs of primary pancreatic cancer and their corresponding, adjacent non-tumor tissues by using quantitative reverse transcriptase polymerase cha.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.23.2
- DOI:
- 10.4238/2015.December.23.2
Influence of cyclophilin D protein expression level on endothelial cell oxidative damage resistance
Authors: J.Z. Peng,L. Xue,J. Chen,B.S. Chen and Y.Q. Yang
We examined the influence of cyclophilin-D (CypD) protein expression level on endothelial cell oxidative damage resistance. A model of CypD protein expression or high expression in endothelial cells was established through gene silencing or cloning. The comparable groups were normal endothelial cells cultured in phosphate-buffered solution in liquid handl.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.28.7
- DOI:
- http://dx.doi.org/10.4238/2015.April.28.7
RsaI polymorphism of the ER�² gene in women with endometriosis
Authors: R.C.P.C. Silva, I.R. Costa, B.M Bordin, C.T.X. Silva, S.R. Souza, C.L.R. J�ºnior, A.B. Frare and K.K.V.O. Moura
We examined the frequency of RsaI polymorphism of the ERβ gene in 54 patients diagnosed with endometriosis and 46 controls. Peripheral blood was collected from women undergoing laparoscopy with a confirmed diagnosis of endometriosis. Polymorphisms of the ERβ gene and p53 were assessed by PCR and analyzed on 2% agaros.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr940
- DOI:
- 10.4238/vol10-1gmr940
Study of the methylation patterns of the EGFR gene promoter in non-small cell lung cancer
Authors: Z.Y. Pan, Z.S. Jiang and H.Q. Ouyang
We investigated the methylation state of the epidermal growth factor receptor (EGFR) gene promoter in non-small cell lung cancer (NSCLC) and analyzed its effect on tumor biology. We enrolled 120 patients with NSCLC who had been confirmed by pathologic diagnosis and had been operated on. The methylation states of the EGFR gene promoter were detected and an.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.19.14
- DOI:
- 10.4238/2015.August.19.14
Analysis of the expression of HMGB-1, CXCL16, miRNA-30a, and TGF-�²1 in primary nephritic syndrome patients and its significance
Authors: W.J. Wang, X.Q. Qu, X.M. Yu, W. Lv and H.Y. Yu
We investigated the expression levels of high-mobility group box protein 1 (HMGB-1), CXC chemokine ligand 16 (CXCL16), microRNA (miRNA)-30a and transforming growth factor b1 (TGF-b1) in primary nephritic syndrome (PNS) patients and the clinical significance of this expression. A total of 56 patients with PNS were included in the PNS group, while 50 health.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.19.17
- DOI:
- 10.4238/2015.August.19.17
Vascular endothelial growth factor gene is associated with hypertensive cerebellar hemorrhage and rehabilitative treatment
Authors: Q.S. He, L.F. Yang, W.B. Wang, B. Yuan, L.Y. Zhang and X.J. Guo
Early rehabilitative therapy is important for patients with hypertensive cerebral hemorrhage to improve long-term function of the extremities. Vascular endothelial growth factor (VEGF) is closely associated with the pathogenesis of hypertension. To identify the markers contributing to the genetic susceptibility to hypertensive cerebellar hemorrhage (HCH) .. Read More»
- Genet. Mol. Res. 14(3):
- 2015.August.19.18
- DOI:
- 10.4238/2015.August.19.18