Medical Genetics

Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India

Authors: A.K. Saxena, J. Gupta, S. Pandey, A.N. Gangopadhaya and L.K. Pandey

Cystathionine beta synthase gene (CβS) catalyzes the condensation of homocysteine with serine, forming cystathionine by the transsulfuration pathway. Disruption of CβS enzyme activity due to defective folic acid metabolism increases the risk factor for neural tube defects. We evaluated the CβS gene mutation in 2.. Read More»

Genet. Mol. Res. 10(4):

2011.October.7.4

DOI:

10.4238/2011.October.7.4

Meta-analysis of the relationship between p21 Ser31Arg polymorphism and lung cancer susceptibility

Authors: G. Lin, F. Fang, X.-J. Yu and L. Yu

The cyclin-dependent kinase inhibitor 1A (also known as p21) is thought to be involved in tumor development by mediating cell cycle arrest through the inhibition of cyclin/CDK activity. To explore the relationship of Ser31Arg polymorphism in the p21 gene with the risk of developing lung cancer, we performed an overall and stra.. Read More»

Genet. Mol. Res. 10(4):

2011.October.13.2

DOI:

10.4238/2011.October.13.2

Effects of MMP-1 and MMP-3 gene polymorphisms on gene expression and protein level in lumbar disc herniation

Authors: B. Eser, O. Eser, Y. Yuksel, H. Aksit, E. Karavelioglu, M. Tosun and Z. Sekerci

The aim of this study was to identify the possible correlation between polymorphisms in matrix metalloproteinase (MMP)-1 and MMP-3 and their corresponding protein levels in disctissues obtained from patients with lumbar disc herniation (LDH) using biochemical and immunohistochemical analyses. Blood and disc samples were obtained from 100 patients with LDH.. Read More»

Genet. Mol. Res. 15(3):

gmr.15038669

DOI:

10.4238/gmr.15038669

Microsatellites behaving badly: empirical evaluation of genotyping errors and subsequent impacts on population studies

Authors: A.C. Kelly, N.E. Mateus-Pinilla, M. Douglas, M. Douglas, P. Shelton and J. Novakofski

Microsatellites are useful tools for ecological studies because they can be used to discern population structure, dispersal patterns and genetic relationships among individuals. However, they can also yield inaccurate genotypes that, in turn, bias results, promote biological misinterpretations, and create repercussions for pop.. Read More»

Genet. Mol. Res. 10(4):

2011.October.19.1

DOI:

10.4238/2011.October.19.1

Atorvastatin in combination with ezetimibe and carotid atherosclerosis

Authors: K.I. Paraskevas, D.P. Mikhailidis and A.D. Giannoukas

Genet. Mol. Res. 13(3):

2014.July.2.10

DOI:

10.4238/2014.July.2.10

Optimization of PCR conditions to amplify Cyt b, COI and 12S rRNA gene fragments of Malayan gaur (Bos gaurus hubbacki) mtDNA

Authors: M.K.A. Rosli, A.S. Zamzuriada, S.M.F. Syed-Shabthar, M.C. Mahani, O. Abas-Mazni and B.M. Md-Zain

PCR has been extensively used for amplification of DNA sequences. We conducted a study to obtain the best amplification conditions for cytochrome b (Cyt b), cytochrome c oxidase I (COI) and 12S rRNA (12S) gene fragments of Malayan gaur mtDNA. DNA from seven Malayan gaur samples were extracted for PCR amplification. Various tri.. Read More»

Genet. Mol. Res. 10(4):

2011.October.19.2

DOI:

10.4238/2011.October.19.2

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population

Authors: L. Dong, M. Mao, R. Luo, Y. Tong and D. Yu

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycopro.. Read More»

Genet. Mol. Res. 10(4):

2001.October.19.3

DOI:

10.4238/2001.October.19.3

HPV genotyping and p16 expression in Xingu Indigenous Park, Brazil

Authors: V.G. Freitas, G.R. Focchi, E.R. Pereira, J.E. Levi, N.M.G. Speck and J.C. Ribalta

The association between high-risk human papillomavirus (HPV) genotypes and p16 expression in indigenous women from the Xingu Indigenous Park, Brazil, was unknown. This study evaluated p16 expression in women with a histological diagnosis of cervical intraepithelial neoplasia (CIN) 3 or higher and correlated this expression with HPV genotypes to determine .. Read More»

Genet. Mol. Res. 15(3):

gmr.15036840

DOI:

10.4238/gmr.15036840

A potential indicator of denervated muscle atrophy: the ratio of myostatin to follistatin in peripheral blood

Authors: R.H. Wu, P. Wang, L. Yang, Y. Li, Y. Liu and M. Liu

Myostatin is a secreted negative regulator of muscle mass, and follistatin antagonizes the function of several members of the TGF-b family, including myostatin. Previously, myostatin expression was found to be closely associated with atrophy of the gastrocnemius muscle, showing a linear correlation, after sciatic nerve injury... Read More»

Genet. Mol. Res. 10(4):

2011.October.21.7

DOI:

10.4238/2011.October.21.7

Intervention for prehypertension and its cardiovascular risk factors in Inner Mongolia

Authors: X.S. Zhao, R. Wang, L.R. Bin and S.Q.G. Wa

Blood pressure levels were evaluated among prehypertension patients with associated cardiovascular risk factors to determine the effect of different interventions with respect to new endpoint events. A total of 1112 patients were equally and randomly divided into control, lifestyle, drug, and lifestyle + drug groups, and were .. Read More»

Genet. Mol. Res. 13(3):

2014.July.4.1

DOI:

10.4238/2014.July.4.1