Medical Genetics
Serum microRNA expression in pregnancies with preeclampsia
Authors: T. Gunel, Y.G. Zeybek, P. Ak�§akaya, I. Kalelio��lu, A. Benian, H. Ermis and K. Ayd�±nl�±
Preeclampsia continues to be a mortal disease of pregnant women throughout the world. Recently, geneticists, allied with obstetricians, have opened new frontiers. MicroRNAs (miRNAs) are members of a class of small, noncoding RNA molecules. They are critical posttranscriptional regulators of gene expression. We extracted circul.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.8.5
- DOI:
- 10.4238/2011.November.8.5
Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene
Authors: W.T. Shi, C.Y. Cai, M.S. Li, C. Ling and W.D. Li
We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exoni.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.22.12
- DOI:
- http://dx.doi.org/10.4238/2015.September.22.12
Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis
Authors: L. Tang, B. Chen, B. Ma and S. Nie
In this study, we investigated the association between 5 interferon regulatory factor-5 (IRF5) single nucleotide polymorphisms (SNPs) and autoimmune diseases using the Medline citation index. Twenty-eight studies with 74 comparisons, including 16 rheumatoid arthritis (RA), 43 systemic lupus erythematous (SLE), 2 juvenile idiop.. Read More»
- Genet. Mol. Res. 13(2):
- http://dx.doi.org/2014.June.16.6
- DOI:
- http://dx.doi.org/10.4238/2014.June.16.6
Significance of sarcomere gene mutation in patients with dilated cardiomyopathy
Authors: Y.D. Li, Y.T. Ji, X.H. Zhou, H.L. Li, H.T. Zhang, Y. Zhang,J.X. Li, Q. Xing, J.H. Zhang, Y.F. Hong and B.P. Tang
Dilated cardiomyopathy (DCM) is a myocardial disease with a high mortality rate. Approximately 40 genes have been found to be associated with DCM to date. Non-familial DCM can also be caused by gene mutations, suggesting that genetic factors were involved in the pathogenesis of DCM; therefore genetic testing is beneficial for the early diagnosis of DCM, w.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.22.14
- DOI:
- http://dx.doi.org/10.4238/2015.September.22.14
Comparison of integrated traditional Chinese and western medicine therapy on vascular cognitive impairment with no dementia
Authors: L.P. Wang, X.Y. Zhang, N. Liu, Z.Z. Ma and D.S. Fang
The aim of this study was to investigate the clinical effect of western medicine therapy assisted by Ginkgo biloba tablets (GBT) in patients with vascular cognitive impairment with no dementia (VCIND). Eighty patients with VCIND were randomly divided into two groups: the conventional treatment group (control group) and the combined treatment group. The co.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.11.22
- DOI:
- 10.4238/2015.May.11.22
Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma
Authors: Q. Zhang, L.Y. Lv, B.J. Li, J. Zhang and F. Wei
We assessed the role of single nucleotide polymorphisms (SNPs) in ERCC1 and ERCC2 genes in the clinical outcomes for osteosarcoma patients receiving cisplatin-based treatment. A perspective study was conducted on 260 patients with osteosarcoma during 2010 and 2011. A polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay was u.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.22.17
- DOI:
- http://dx.doi.org/10.4238/2015.September.22.17
Changes in peripheral blood natural killer T cells in hepatitis B e antigen-positive chronic hepatitis B patients and efficacy prediction after pegylated interferon therapy
Authors: F. Huang, M.H. Lu, H.Y. Gong and Z.P. Xiong
We examined the expression of peripheral blood natural killer T (NKT) cells in hepatitis B e antigen (HBeAg)-positive chronic hepatitis B (CHB) patients and predicted its efficacy after pegylated interferon a-2a (Peg-INFa-2a) therapy. Sixty-three cases of HbeAgpositive CHB inpatients and outpatients, treated in the Third Xiangya Hospital of Central South .. Read More»
- Genet. Mol. Res. 14(2):
- 2015.May.11.26
- DOI:
- 10.4238/2015.May.11.26
Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome
Authors: H.-S. Lee, M.J. Kim, C.K. Lim, J.W. Cho, I.O. Song and I.S. Kang
Preimplantation genetic diagnosis (PGD) has become an assisted reproductive technique for couples that have genetic risks. Despite the many advantages provided by PGD, there are several problems, including amplification failure, allele drop-out and amplification inefficiency. We evaluated multiple displacement amplification (M.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.17.3
- DOI:
- 10.4238/2011.November.17.3
Semi-quantitative detection of gene expression using bisbenzimide dye
Authors: P. Kittimongkolsuk, T. Tencomnao, R. Santiyanont
An electrochemical biosensor, using a disposable electrochemical printed chip aggregation by the bisbenzimide dye (Hoechst 33258), was used for detecting the expression of b-actin and RAGE genes. Using linear sweep voltammetry, the expression of these two genes in HeLa and HepG2 cell lines was determined based on anodic peak c.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.22.8
- DOI:
- 10.4238/2011.November.22.8
Novel NKX2-5 mutations responsible for congenital heart disease
Authors: J. Wang, X.Y. Liu and Y.Q. Yang
Congenital heart disease (CHD) is the most common birth defect and is the leading cause of infant morbidity and mortality resulting from birth defects. Increasing evidence demonstrates that genetic variation in the NKX2-5 gene, which encodes a homeobox-containing transcription factor crucial to cardiogenesis, is an important m.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.November.29.1
- DOI:
- 10.4238/2011.November.29.1