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Variations in T-cell activation Rho-GTPase activating protein (TAGAP) have been associated with various autoimmune diseases including Rheumatoid Arthritis (RA). The gene is involved in T cell activation and is therefore of particular interest in context of T cell-driven autoimmune diseases. Genome-wide association studies suggest association between TAGAP and RA in various populations. This study...
Previous studies suggest that miR-146a rs2910164 and miR-499 rs3746444 polymorphisms are associated with susceptibility to pulmonary tuberculosis, but the reported findings are inconsistent. We conducted this meta-analysis to evaluate the relationships between the two single nucleotide polymorphisms and tuberculosis.Potentially relevant studies were identified by searching PubMed and Embase databases...
Wilson Disease is an autosomal recessive inherited disorder caused by abnormal copper metabolism. Mutations in P-type adenosine triphosphatase -ATP7B gene are known to result in excessive copper deposition in liver, brain and cornea leading to hepatic, and neuropsychiatric manifestations. Wide clinical and genetic heterogeneity is observed despite being a monogenic condition, making diagnosis difficult...
Long noncoding RNA (lncRNA) H19 has been found as oncogene which overexpressed in various cancers. Polymorphisms in lncRNA H19 have been shown to be associated with the risk of cancer, but the findings are inconsistent. The present study aimed to inspect the possible association between H19 gene polymorphisms and breast cancer (BC) risk in a sample of southeast Iranian population. The H19 rs3741219,...
OMZ (Oxygen Minimum Zone) is the zone in which oxygen saturation in sea water is at the lowest and this zone occurs at depths of around 100–1000m. Although oxygen concentration is low and condition is very harsh for survival of microbes in OMZ regions, still these regions harbor a large number of microbes, probably surviving by anaerobic metabolic pathways. Thus, we investigated one of the SRA (Sequence...
Evidences suggest that polymorphism in genes involved in folate metabolism plays a critical role in the etiology of diabetes and diabetic complications. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFRC677T gene polymorphism, which is located within the N terminal catalytic domain makes enzyme thermolabile with reduced activity. The present study...
Asthma is a complex disease with interplay of genes and environment. Genome wide association studies (GWAS) have shown the systematic association of Human leukocyte antigen (HLA) genes with asthma. The objective of present study was to determine the frequency of HLA DRB1 alleles in adult Indian asthmatic and control groups.Polymerase Chain Reaction- sequence-specific typing (PCR-SSP) method was used...
Despite major efforts by the scientific community over the years, our understanding of the pathogenesis or the mechanisms of injury of multiple sclerosis is still limited. Multiple lines of evidence implicate that T cells play a central role in both mediating and regulating MS pathophysiology, and efforts to develop rational therapeutic strategies for MS have focused on understanding factors which...
Matrix metalloproteinases (MMPs) play a fundamental role in tissue degradation or remodeling and involved in all stages of tumor progression. However, the role of the MMPs polymorphisms with endometrial carcinoma has not been fully examined in Egyptian patients. Therefore, we planned this study to evaluate associations of the MMP-1 (−1607 1G/2G) and MMP-3 (−1171 5A/6A) polymorphisms and their immune...
Gallbladder cancer (GBC) is a malignancy with poor prognosis and needs early diagnostic tools and newer therapeutics. Molecular profiling data in GBC is limited due to lack of enough high-throughput screening regarding its genetic information. The present study is carried out to determine copy number variations (CNVs), in 890 major cancer related genes in GBC patients. Eighteen histopathologically...
Parkinson's disease (PD) is a progressive neurodegenerative disorder and a major cause of disability in the elderly population. The search for potential biomarkers and drug targets continues as complete understanding of molecular mechanisms remain elusive. Whole genome expression profiling by microarray in combination with expression quantitative trait loci (eQTL) analysis provides insight into the...
Microseminoprotein-beta (MSMB) is one of the most abundant proteins in human seminal plasma. The current study was aimed to assess the impact of MSMB rs10993994, rs12770171, rs10994385 variants on prostate cancer (PCa) risk in a sample of Iranian population. This case-control study was executed on 169 pathologically confirmed PCa patients and 182 benign prostatic hyperplasia (BPH). Genotyping was...
A homozygous truncating mutation in nonreceptor tyrosine phosphatase 14 (PTPN14) has recently been associated with an extremely rare autosomal recessive syndrome of congenital posterior choanal atresia and childhood-onset lymphedema. PTPN14 has been shown to interact directly with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase essential for lymphangiogenesis...
Several seamless DNA assembly kits based on in vitro homologous recombination activity are commercially available in recent years for efficient and rapid construction of expression vectors, subsequent transformation and investigation of gene functionality. This study was performed to estimate the efficiency of uni seamless cloning system, through cloning of multiple DNA fragments derived from Elaeis...
Hereditary Hemochromatosis is a genetic disorder characterized by disrupted iron metabolism related to gene defects altering the expression of regulatory proteins. Up-regulation of iron absorption leads to excess iron deposition in multiple organs, resulting in the development of liver cirrhosis, endocrinopathies, bone and joint disease, as well as cardiomyopathy and heart failure. So far different...
MicroRNAs (miRNAs) are of interest because they are dysregulated in different diseases, including liver diseases. MicroRNA-122 is an organ specific miRNA representing 70% of total miRNA in hepatocytes. The aim of this study was to investigate serum miRNA-122 expression in Egyptian patients with non-alcoholic fatty liver disease (NAFLD) and to determine its relationship with insertion/deletion polymorphism...
Salvadora persica L. (family Salvadoraceae) is a highly threatened medicinally and economically important arid zone plant species. With ever increasing demand, there is a pressing need for conservation and mass multiplication of this plant through biotechnological approaches. A large number of complete plantlets were obtained by direct regeneration from the nodal explants on Murashige and Skoog (MS)...
The Solanum fruit fly Bactrocera latifrons is an important agricultural pest. There is no report on the microbiota associated with this fruit fly. This study reports the bacterial communities associated with the life stages of this fruit fly from Malaysia. Illumina MiSeq next-generation sequencing of PCR-generated amplicons of 16S rRNA gene revealed the presence of different number of bacterial OTUs...
Male infertility is rising worldwide due to multiple etiological factors. Among the various causes, genetic cause contributes in disruption of spermatogenesis, especially due to Y chromosome microdeletions in azoospermia factor (AZF) region.The aim of this study is to identify the AZFa and AZFb microdeletion which are risk factors for infertility in men of Gujarat.We analysed pattern of microdeletions...
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