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Inconsistent results were reported in recent literature regarding the association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and the susceptibility of congenital heart disease (CHD). In this study, we performed a meta-analysis to investigate the associations by employing multiple analytical methods.Literature search was performed and published articles were obtained...
Genome-wide association studies identified novel genes associated with T2DM which have been replicated in different populations. We try to examine here if certain frequently replicated SNPs of Insulin growth factor 2 m-RNA binding protein 2 (IGF2BP2) (rs4402960, rs1470579) and Solute Carrier family 30 member 8 (SLC30A8) (rs13266634) genes, known to be implicated in insulin pathway, are associated...
In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype, subtelomeric and FMR1 analysis were normal in both cases.We performed array-CGH analysis that revealed no...
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a mitochondrial disorder in which nitric oxide (NO) deficiency may play a role in the pathogenesis of several complications including stroke-like episodes and lactic acidosis. Supplementing the NO precursors arginine and citrulline restores NO production in MELAS syndrome. In this study we evaluated the...
The alpine plant Arabis alpina (alpine rock-cress) is a thoroughly studied species in the fields of perennial plant flowering regulation, phylogeography, and adaptation to harsh alpine climatic conditions. We report the complete A. alpina chloroplast genome sequence obtained through de novo assembly of Illumina paired-end reads produced by total DNA sequencing. The A. alpina cp circular genome is...
Trends toward identifying risk factors of thrombotic complications had become essential as an attempt to prevent and decrease the incidence of the complications. Thrombosis has been associated with predisposing factors like mutations in FV, PTH, MTHFR and other genes.Evaluate whether the CVD StripAssay has an added value in the screening for more thrombophilia risk factors, which may predispose for...
Background: Reactive oxygen species (ROS) can oxidize biological molecules that mediate carcinogenesis by causing metabolic malfunction and damage to DNA. Human serum paraoxonases (PON1, PON2 and PON3) play a role in antioxidant defense and protect the cell against ROS. PON1 polymorphisms Q192R and L55M have been shown to be associated with several human cancers, but their association with hepatocellular...
Human C-reactive protein (CRP) is an acute phase reactant involved in chronic and acute inflammation. CRP is associated with metabolic syndrome, obesity, atherosclerosis, unstable angina, insulin resistance and diabetes. The present study evaluates the association of +1059 G>C silent polymorphism in exon 2 of CRP gene in 581 cases [CAD (206), T2D (266), T2D with CAD (109)] and 235 controls in the...
Emerging evidence has shown that p53gene participates in human carcinogenesis as tumor suppressors. Polymorphism of p53 gene codon 72 Arg/Pro (rs1042522) may influence the function of p53 protein and then affect the processing of carcinogenesis. It has been suggested that p53 codon 72 Arg/Pro polymorphism is associated with susceptibility to hepatocellular carcinoma (HCC). However, published results...
The aim of this study was to examine the expression patterns of SREBP-1 gene in milk somatic cells and its association with milk fat yield during early lactation in Sarda breed sheep. A sample of 20 Sarda ewes, aged between 4 and 5years, in their third to fourth lactation were chosen. From each ewe 28days after lambing milk yield was measured, and a 160ml milk sample for the RNA extraction and to...
In this study the nucleotide diversity in the 5′untranslated region (UTR) of TLR8 gene in riverine as well as swamp buffaloes has been described. Analysis of the 5′UTR of TLR8 gene showed presence of two SNPs in this region, g.-139G>T and g.-128A>G. A PCR–RFLP assay designed for genotyping of g.-139G>T SNP across 667 samples from 2 buffalo populations revealed a striking difference in allele...
The present study characterized 842bp fragment of mitochondrial ATP synthase 6 and 8 (ATPase6/8) genes in Notopterus notopterus. In all, 97 samples of N. notopterus were collected from five distant rivers; viz Satluj, Gomti, Yamuna, Brahmaputra and Mahanadi representing 4 river basins in India. The analysis of variation revealed presence of 23 haplotypes in ATPase6/8 gene with haplotype diversity...
Although apolipoprotein (apo) CIII gene polymorphisms have proved to be related to the increased serum lipid level in foreign studies, the results have not always been consistent among diverse populations. In addition, the research focuses on the impact of the apoCIII on the serum lipid levels of Han Chinese subjects which was not conducted before.To explore the relationship between the apoCIII gene...
Sulfur metabolism is one of the oldest known environmental processes. The operon involved in this process is called the dsr operon. The vital role of the operon is to maintain the environmental sulfur balance. The dsr operon of proteobacteria consists of 15 genes, viz. dsrABEFHCMKLJOPNRS. The proteins encoded by the dsr operon are essential for the transfer of sulfur globules from periplasm to cytosol...
In vitro and in vivo studies have shown conflicting results regarding heat shock protein (HSP) and leptin correlation. More importantly both HSP70 and leptin are correlated with C reactive proteins. The purpose of the present study was to study the correlation between serum HSP70 and leptin levels in patients with type 2 diabetes stratified according to gender. We performed a cross sectional study...
It has been revealed that the inherited thrombophilia increases the risk of thrombosis in the venous system. To study the association of factor V G1691A, factor V HR2 (4070A/G), prothrombin G20210A, and PAI-1 (−675 I/D, 5G/4G) polymorphisms with deep venous thromboembolism (DVT), these polymorphisms were investigated.A total of 193 patients who presented clinical symptoms of deep venous thromboembolism...
Comparative genome analysis of recently sequenced Leishmania (L.) donovani was unexplored so far. The present study deals with the complete scanning of L. (L.) donovani genome revealing its interspecies variations. 60 distinctly present genes in L. (L.) donovani were identified when the whole genome was compared with Leishmania (L.) infantum. Similarly 72, 159, and 265 species specific genes were...
Type 2 Diabetes Mellitus (T2DM) and Gestational Diabetes Mellitus (GDM) are part of a heterogeneous and complex metabolic group of disorders that share common pathophysiological circumstances, including β-cell dysfunction and insulin resistance. The protein Calpain 10 (CAPN10) plays a role in glucose metabolism, pancreatic β-cell insulin secretion, and thermogenesis.Polymerase Chain Reaction–Restriction...
Glutathione S-transferases (GSTs) belong to a super family of phase II detoxification enzymes, which play an important role in protecting cells from damage caused by endogenous and exogenous compounds by conjugating reactive intermediates with glutathione to produce less reactive water-soluble compounds. In the present study, we determined the frequencies of two polymorphisms in exon 5 and exon 6...
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