Human Genetics
Identification of three distinguishable phenotypes in golden retriever muscular dystrophy
Authors: C.E. Ambr�³sio, L. Fadel, T.P. Gaiad, D.S. Martins, K.P.C. Ara�ºjo,E. Zucconi, M.P. Brolio, R.F. Giglio, A.C. Morini, T. Jazedje,T.R. Froes, M.L.T. Feitosa, M.C. Valadares, P.C.B. Beltr�£o-Braga,F.V. Meirelles and M.A. Miglino
Duchenne muscular dystrophy (DMD) is a human disease characterized by progressive and irreversible skeletal muscle degeneration caused by mutations in genes coding for important muscle proteins. Unfortunately, there is no efficient treatment for this disease; it causes progressive loss of motor and muscular ability until death.. Read More»
- Genet. Mol. Res. 8(2):
- vol8-2gmr581
- DOI:
- 10.4238/vol8-2gmr581
Effects of ABCB1 3435C>T genotype on serum levels of cortisol and aldosterone in women with normal menstrual cycles
Authors: T. Nakamura, N. Okamura, M. Yagi, H. Omatsu, M. Yamamori,A. Kuwahara, K. Nishiguchi, M. Horinouchi, K. Okumura and T. Sakaeda
ABCB1, also known as MDR1/P-glycoprotein, can transport cortisol and aldosterone. We examined the effects of ABCB1 polymorphisms on serum levels of cortisol and aldosterone among different phases of the normal menstrual cycle in 51 non-pregnant healthy Japanese female volunteers (22 ± 1 years old). The menstrual cycle w.. Read More»
- Genet. Mol. Res. 8(2):
- vol8-2gmr574
- DOI:
- 10.4238/vol8-2gmr574
Detection of aneuploidies in spontaneous abortions by quantitative fluorescent PCR with short tandem repeat markers: a retrospective study
Authors: F.F. Coelho, F.K. Marques, M.S. Gon�§alves, V.C.O. Almeida, E.C.C. Mateo and A.C.S. Ferreira
Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and .. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038617
- DOI:
- 10.4238/gmr.15038617
DNA repair gene XRCC3 variants are associated with susceptibility to glioma in a Chinese population
Authors: J.Y. Huang, J.F. Yang, Q. Qu, J. Qu, F. Liu, F.E. Liu, T. Xiong and S.H. Lu
The susceptibility to glioma is not well understood. It has been suggested that the X-ray cross complementing group 3 (XRCC3) gene influences the capacity to repair DNA damage, leading to increased glioma susceptibility. In this study, we evaluated the relationship between XRCC3 mutations and glioma risk. Genotypes were assessed in 389 Chinese glioma pati.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.8.18
- DOI:
- http://dx.doi.org/10.4238/2015.September.8.18
Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase and breast cancer chemotherapy response
Authors: L. Yang, X.W. Wang, L.P. Zhu, H.L. Wang, B. Wang, T. Wu, Q. Zhao, D.L.X.T. JinSiHan and X.Y. Wang
Activity of methylenetetrahydrofolate reductase (MTHFR), an enzyme involved in folate metabolism, is influenced by mutations in the corresponding gene, contributing to a decrease in 5,10-MTHF. Due to such polymorphisms, individuals differ in MTHFR enzyme activity and plasma folate levels. We investigated the relationship between two common MTHFR polymorph.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038679
- DOI:
- 10.4238/gmr.15038679
Identification and functional analysis of differentially expressed genes related to obesity using DNA microarray
Authors: J.Y. Du, H. Yang, D.R. Tian, Q.M. Wang and L. He
We looked for differentially expressed genes at different stages of preadipocyte differentiation and examined their functions, based on DNA microarrays of preadipocytes obtained from healthy subjects undergoing cosmetic liposuction. We downloaded gene expression profile GSE25910 from the Gene Expression Omnibus database and id.. Read More»
- Genet. Mol. Res. 13(1):
- 2014.January.8.5
- DOI:
- 10.4238/2014.January.8.5
Serum proteomic spectral characteristics of acute myeloid leukemia and their clinical significance
Authors: R.-J. Zheng, R.-J. Wu and X.-D. Ma
We investigated the differences between the serum proteomic spectral characteristics of acute myeloid leukemia (AML) patients and those of healthy people. We collected peripheral blood serum samples from 62 AML patients and 15 healthy controls. After removing high-abundance proteins, low-abundance serum proteins were separated.. Read More»
- Genet. Mol. Res. 16(2):
- gmr16029172
- DOI:
- 10.4238/gmr16029172
Effect of miRNA-203 on cervical cancer cells and its underlying mechanism
Authors: X.Z. Yin, D.M. Zhao, G.X. Zhang and L. Liu
miRNA-203 is involved in the development and progression of various types of cancer. However, its role in cervical cancer remains unclear. The aim of this study was to investigate the effect of miRNA-203 on the proliferation and migration of HeLa cervical cancer cells, as well as survivin expression in these cells. A miRNA-203 primer probe was designed ac.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038680
- DOI:
- 10.4238/gmr.15038680
A novel method for identifying SNP disease association based on maximal information coefficient
Authors: H.M. Liu, N. Rao, D. Yang, L. Yang, Y. Li and F. Ou
To improve single-nucleotide polymorphism (SNP) association studies, we developed a method referred to as maximal information coefficient (MIC)-based SNP searching (MICSNPs) by employing a novel statistical approach known as the MIC to identify SNP disease associations. MIC values varied with minor allele frequencies of SNPs and the odds ratios for diseas.. Read More»
- Genet. Mol. Res. 13(4):
- 2014.December.19.7
- DOI:
- 10.4238/2014.December.19.7
Effects of eplerenone on the activation of matrix metalloproteinase-2 stimulated by high glucose and interleukin-1�² in human cardiac fibroblasts
Authors: J.F. Chi, H. Uzui, H.Y. Guo, T. Ueda and J.D. Lee
The aim of this study was to determine the influence of high glucose (HG) and interleukin (IL)-1β on human cardiac fibroblast (HCF) functions, and to evaluate the effects of eplerenone in these responses. HCFs were cultured in normal or HG media in the absence or presence of IL-1β and/or eplerenone. We assessed matri.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.January.24.4
- DOI:
- 10.4238/2014.January.24.4