Abbreviation: J. Med. Genet. Genomics
Start Year: 2009
Page 1 of 3, showing 20 records out of 47 total, starting on record 1, ending on 20
DOI: 10.5897/JMGG2015.0078[Article Number: A4532C651932]
In order to evaluate the use of the BNC2 gene in clinical practice regarding hypospadias, the presence of the impact of mutations in BNC2 gene in males who had been treated surgically for hypospadias in Sweden (N=413) and controls (N=455) were evaluated. Mutational screening was performed using Sanger sequencing and genotyping by Taqman allelic discrimination, and the findings were evaluated by disease-causing potential... Read more.
DOI: 10.5897/JMGG2014.0075[Article Number: 9A932D245888]
Polymorphisms in key genes involving the folate pathway have been reported to be associated with the risk of orofacial cleft (OFC) and several studies were published with conflicting results. A meta-analysis of the previous studies of allelic association between OFC with A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene was carried out. Odds ratios (ORs) with 95% confidence intervals (CIs)... Read more.
DOI: 10.5897/JMGG2013.0073[Article Number: F006C4642843]
The aim of this work was to study the polymorphism in CTLA4 gene in insulin-dependent diabetes mellitus (IDDM) type I patients in Baghdad population. To achieve this goal, blood samples were collected from 80 IDDM (40 males and 40 females) and 20 samples of healthy, DNA was isolated and the CTLA4 gene (A 152 bp fragment) were amplified by using specific primers for exon1 of this gene, and then found the sequence of this... Read more.
DOI: 10.5897/JMGG2013.0072[Article Number: F0E6D6E42844]
Noonan syndrome is a genetic autosomal dominant disorder characterized by facial dysmorphy, short stature, delayed puberty and congenital heart defects. The first gene implicated in this syndrome is PTPN11, encoding protein tyrosine phosphatase SHP-2. Several studies worldwide have identified missense mutations in this gene in patients with Noonan syndrome. Our objective focused on mutations screening of PTPN11 on a... Read more.
DOI: 10.5897/JMGG2013.0069[Article Number: D4B07C242845]
In this study, we investigated the correlation between CYP2C9 gene polymorphism and maintenance dose of Warfarin in 300 patients who were the Han population derived from the Affiliated Yan An Hospital of Kunming Medical University in Yunnan Province of China, subjected to the operation of cardiac valve replacement and Warfarin oral administration post operation from 2008 to 2009 by detecting the genotypes and Allele... Read more.
[Article Number: 407E17A9026]
The objective of the study is to know the frequencies of insertion/deletion (I/D) allele and association of angiotensin converting enzyme (ACE), I/D polymorphism in Jammu and Kashmir (J&K) populations in relation to type 2 diabetes mellitus (T2DM) and hypertension (HTN). A total of 500 individuals were recruited for the present study. Out of these 500 individuals, 250 individuals had T2DM and HTN and 250 were... Read more.
[Article Number: CBC0F609054]
Phosphodiesterase 5 (PDE5) is a catalytic enzyme for degradation of cyclic guanosine monophosphate (cGMP) in human smooth muscle cells. Inhibition of this enzyme by certain chemicals including sildenafil, vardenafil and tadalafil, is considered a breakthrough treatment of erectile dysfunction. Unfortunately, these drugs are associated with several side effects. In this study, another strategy is adopted in the... Read more.
DOI: 10.5897/JMGG11.022[Article Number: 11E1D288995]
Understanding the molecular genetics of odontogenesis (tooth development) can unlock innovative avenues to genetically engineer teeth for therapy. In this review, emerging insights into the genetic and molecular bases of tooth development are presented. Four conserved signature genes express master molecules (fibroblast growth factors, bone morphogenetic proteins, wingless integrated ligands and sonic hedgehog protein)... Read more.
[Article Number: 4D998F69006]
The etiology of human recurrent fetal loss is associated with methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism. Several conflicting reports on MTHFR gene polymorphism increases the curiosity, with the aims to evaluate the prevalence of MTHFR gene in recurrent miscarriage cases using PCR-RFLP analysis. The present findings reveal that the highest (26.7%) incidence was observed in heterozygote (CT)... Read more.
[Article Number: C7F8DCD9000]
Many genes and signalling pathways controlling cell proliferation, death and differentiation, as well as genomic integrity, are involved in cancer development. Techniques, such as cDNA microarrays, have enabled measurement of the expression of thousands of genes in a single experiment, revealing many new, potentially important cancer genes. Human breast cancer is usually caused by genetic alterations of somatic cells of... Read more.
[Article Number: BA3BC508924]
Cytogenetic analysis in 24 clinically diagnosed cases of anorectal malformation carried out using GTG banding techniques showed trisomy 21, the chromosomal abnormality of Down syndrome in 4 cases. Of the 4 cases, 3 were male children and 1 was female child and the remaining 21 cases had normal karyotype of a male or female. Four cases as were found possessing the karyotype of Down syndrome were phenotypically not having... Read more.
[Article Number: 97CA91D8936]
The current study is skillful to detect the mutations of the H-RAS oncogene in patient of uterine cancer. Thirty specimens of blood and tissue were collected for DNA extraction, H-RAS oncogene amplification and histopathology examination. The results, which revealed presence of mutations in H-RAS oncogene represented by homozygous wild type Leu/Leu was 20%, mutant translocation genotype Val/Val was 48%, mutant deletion... Read more.
[Article Number: C89326D8853]
Plant genetic engineering has become one of the most important molecular tools in modern crop breeding. Significant progress has been made in the development of new and efficient transformation methods in plants. Agrobacterium remains one of the predominant microbes employed in this approach. In particular, progress inAgrobacterium –mediated transformation of varieties of agricultural plants such as... Read more.
[Article Number: 3354EB08877]
Somatic mitochondrial DNA (mtDNA) mutations have been reported in many types of cancer cells, but very few reports document the prevalence of inherited mtDNA polymorphisms including NADH-dehydrogenase (ND3) subunit polymorphisms in cancer patients compared to healthy control populations. Although, few mitochondrial ND3 subunit polymorphisms were reported in different cancers, e.g. breast, esophageal cancer but the... Read more.
[Article Number: 64354288622]
Cancer is a metabolic disorder and in energy metabolism, pyruvate dehydrogenase kinases (PDKs) play a very vital role, which make them important candidate for involvement in cancer. The bioinformatics analysis performed on ovarian cancer data sets taken from gene expression Omnibus proved the up regulation of PDK2 and PDK4. The regulating microRNA’s for these two genes were also predicted computationally, which... Read more.
[Article Number: 252EEDF8643]
A highly inbred uncle-niece, second degree consanguineous Foveal hypoplasia affected family with four members was subjected to gene mapping. Members underwent detailed ophthalmic evaluation including best corrected distance and near vision measurements, color vision assessment, fundus evaluation and flourescence angiography, horizontal corneal diameter measurement, total axial length measurement, optical coherence... Read more.
[Article Number: 320E8938592]
This work aimed at studying the HLA-DQA1 and HLA-DQB1 genotyping in gastritis patients with positive rapid urease test (RUT). This study was carried out in College of Medicine, University of Basrah. HLA-DQA1 and HLA-DQB1 genotyping was done in College of Medicine, University of Manitoba, Winnpeg, Canada during the period from 17th of April 2009 to 15th of July 2010. A total of 70 gastritis patients (29 males and 41... Read more.
[Article Number: 6B998248612]
Herbal medicines have been widely used all over the world since ancient times and have been recognized by physicians and patients for their better therapeutic value as they have no or fewer adverse effects as compared with modern medicines. Phytosome is a novel approach to drug delivery system that addresses the limitations of the traditional drug delivery systems. Phytosomes are advanced forms of herbal products that... Read more.
[Article Number: 32579328555]
Antisense oligonucleotides (ASO) are becoming more widely accepted as potential therapeutics for various diseases. Antisense therapy has emerged as an exciting and promising strategy for the treatment of various diseases. Antisense are different from conventional drugs that are designed to interact with protein molecule. Antisense drugs have more selective action and they have the potential to be more effective and less... Read more.
[Article Number: 071F78D8567]
Mitochondria are unique and important organelles in terms of energy production for the eukaryotic cell. Through complexes of the electron transport chain embedded in the mitochondrial membrane, the cell is able produce large amounts of ATP. Mitochondria posses their own genome, some of which encodes for the subunits of these protein complexes. From the comorbidity of psychotic symptoms seen in those with mitochondrial... Read more.
Page 1 of 3, showing 20 records out of 47 total, starting on record 1, ending on 20