Table of Contents | Genet. Mol. Res.2016(1)
Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer
Authors: B.C. Almeida1, J.P.F.O. Kleine1, C.M. Camargo-Kosugi1,2, M.R. Lisboa1,C.N. Fran�§a3, J.P. Fran�§a4 and I.D.C.G. Silva1
The association between TP53 gene polymorphisms and breast cancer (BC) in Brazilian women is a controversial topic. In this cross-sectional study, we evaluated the association between clinical pathological variables and three polymorphisms (TP53*11, TP53*72, and TP53*248) in BC patients and controls. Genomic DNA was extracted from the blood cells of 393 p.. Read More»
Genet. Mol. Res. 15(1): gmr.15017055
DOI: 10.4238/gmr.15017055
IL10 rs1800896 polymorphism is associated with liver cirrhosis and chronic hepatitis B
Authors: L.N. Cao1, S.L. Cheng2 and W. Liu3
We conducted a case-control study to assess the role of two IL10 gene polymorphisms (rs1800896 and rs1800872) in susceptibility to liver cirrhosis, and their association with chronic hepatitis B in a Chinese population. A case-control study was designed to investigate the association between functional polymorphisms of IL10 (rs1800896 and rs1800872) and t.. Read More»
Genet. Mol. Res. 15(1): gmr.15017256
DOI: 10.4238/gmr.15017256
Cloning and characterization of defense-related genes from Populus szechuanica infected with rust fungus Melampsora larici-populina
Authors: Z.J. Chen1,2, Z.M. Cao1, Z.D. Yu1 and D. Yu1
Characterization of defense-related genes is critical for breeding disease-resistant poplar varieties and for better management and control of leaf rust disease. In the present study, full-length cDNAs of five Populus szechuanica defense-related (PsDR) genes, pathogen-related protein 1 (PsPR1), β-1,3-glucanase (PsGns), thaumatin-like protein 1 (PsTLP.. Read More»
Genet. Mol. Res. 15(1): gmr.15017314
DOI: 10.4238/gmr.15017314
Interleukin-4 regulates macrophage polarization via the MAPK signaling pathway to protect against atherosclerosis
Authors: X.N. Zhao1, Y.N. Li2 and Y.T. Wang1
Our study aimed to investigate the effects of interleukin-4 (IL-4) on macrophage polarization, as well as its role in the development of atherosclerosis. Human peripheral blood mononuclear cells (PBMCs) were isolated and randomly divided into 3 groups: control group, ox-LDL group, and ox-LDL + IL-4 groups. The expression of M1/M2 macrophage surface marker.. Read More»
Genet. Mol. Res. 15(1): gmr.15017348
DOI: 10.4238/gmr.15017348
Influence of COL1A2 gene variants on the incidence of hypertensive intracerebral hemorrhage in a Chinese population
Authors: D.Z. Tian, W. Wei and Y.J. Dong
ype I collagen (transcribed by COL1A1 and COL1A2 genes) is important for maintaining vessel wall elasticity and is a critical part of the extracellular matrix. We conducted a case-control study to investigate the role of the COL1A2 rs42524 polymorphism in the development of hypertensive intracerebral hemorrhage. Between January 2012 and December 2014, a t.. Read More»
Genet. Mol. Res. 15(1): gmr.15017369
DOI: 10.4238/gmr.15017369
Molecular cloning and expression pattern of the porcine 5-aminolevulinate synthase 1 (ALAS1) gene and its association with reproductive traits
Authors: L.Q. Liu1, F.E. Li2 and C.Y. Deng2
5-Aminolevulinate synthase 1 (ALAS1) is the first enzyme in the heme biosynthetic pathway and is upregulated in follicular tissue during the early stages of ovulation. In this study, we isolated the complete coding sequence of the porcine ALAS1 gene and its 2-9 intron sequence, identified a single nucleotide polymorphism (SNP; T/C) in intron 9, and develo.. Read More»
Genet. Mol. Res. 15(1): gmr.15017544
DOI: 10.4238/gmr.15017544
Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings
Authors: J.F. Franco1, D.C. Soares1, L.C. Torres2, G.N. Leal1, M.T. Cunha1,R.S. Honjo1, D.R. Bertola1 and C.A. Kim1
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive multisystem lysosomal storage disorder, which is characterized by the deficiency of the enzyme arylsulfatase B encoded by the ARSB gene. Treatment of this disease with enzyme-replacement therapy (ERT) improves the clinical status of and generates hope for MPS VI patients. However, only few r.. Read More»
Genet. Mol. Res. 15(1): gmr.15017850
DOI: 10.4238/gmr.15017850
Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes
Authors: C.F. Rocha1, R.B. Vasques2, S.R. Santos1 and C.L.A. Paiva1,3
The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this study was to review the cases of 1p36 deletion that was reported between 1999 and 2014, in order to identify a possible correlation between the size of the 1p36-deleted segment and t.. Read More»
Genet. Mol. Res. 15(1): gmr.15017942
DOI: 10.4238/gmr.15017942