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Cone-Rod Dystrophies (CRDs) are pigmentary retinopathies predominantly involving the macular cone photoreceptors leading to visual loss at an early age. Mutation analysis, especially in syndromic forms helps with diagnosis and disease management as well as prevention using preimplantation or prenatal diagnosis. However, it is hampered by genetic heterogeneity of CRDs. Here we report on successful...
Previous reports clearly suggest that IL-17 have important role in development of systemic and peripheral inflammation in early miscarriage (EM). In the present study, we have investigated the association between genetic variants in IL-17A, IL-17F and susceptibility to EM. We recruited 135 EM patients and 150 controls and used PCR-RFLP method for genotyping the polymorphisms of IL-17A, rs4711998 (−832...
We conducted the current meta-analysis to quantitatively summarize the evidence for the strength of the associations between 4-bp insertion/deletion (I/D) polymorphism (rs10680577) of EGLN2 and cancer risk. Using databases searches, we included 5 case-control studies encompassing 3030 cases and 4728 controls. The pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. The findings...
MicroRNAs (miRNAs) are endogenous, single stranded, small RNAs that are 18–24 nucleotides in length, ubiquitously found in eukaryotes and in some viruses. miRNAs majorly help in down regulation of genes by binding to the complimentary sites on 3′ untranslated regions of target messenger RNA (mRNAs), and more than 30% of the genes in animals are believed to be under the control of miRNAs. The red flour...
Genetic alteration in TP53 gene can proliferate the tumor formation in gastric cancer and the frequency of these somatic mutations can vary in different geographical populations. In the present study, sequencing of the coding regions of TP53 gene, real time gene expression and immunohistochemistry analysis were performed in gastric tumor samples. H. pylori infected tumor, with or without cagA genotype...
The aim was to study genetic aspects of sexual size dimorphism in Iran-Black synthetized breed of sheep. Traits evaluated were birth weights (BW), weaning weights (WW) and post-weaning body weights measured at 6 months (W6), 9 months (W9) and 12 months (W12) of age. A series of six bivariate animal models including direct and maternal components were used to measure phenotypic variance and its constituent...
BRCA2 is a tumor suppressor gene involved in repair of double strand breaks in DNA. Germ line mutations within this gene are implicated in familial breast and ovary cancer syndromes. Moreover, several studies have assessed association between single nucleotide polymorphisms (SNPs) within this gene and risk of breast cancer. We performed a meta-analysis to assess the association between rs4987117,...
Long non-coding RNAs (lncRNAs) have been shown to participate in the pathogenesis of a variety of cancers including breast cancer. The lncRNA Carbonyl reductase 3-Antisense 1 (CBR3-AS1) has been implicated in some human malignancies in association with androgen receptor (AR). In the present study, we evaluated the expression of CBR3-AS1 and AR transcripts in 52 breast cancer tissues, their corresponding...
The purpose of the work was to study mutation screening of BRCA1 in Iranian patients with sporadic breast cancer. We carried out a mutational analysis of BRCA1 gene in 101 breast cancer patients from a population in Central of Iran. The comparison of DNA of paraffin-embedded breast cancer tissue from patients was studied, and breast tissue from 30 unrelated normal women without cancer was selected...
•PCOS is a multifactorial disorder.•Polymorphism in class III INS VNTR has been linked to PCOS.•The −23 HphI T/A polymorphism is a surrogate marker for determination of INS VNTR length polymorphism.
Leishmaniasis remains one of the most neglected diseases globally and affects primarily the poor in developing countries. Due to the absence of safe and effective drug, the prevention of infection of this disease is very important as it requires an effective vaccine is not yet available. Leishmania eukaryotic initiation factor (LeIF) protein acts an inhibitor of the Leishmania major growth in murine...
Activating transcription factor 6 (ATF6) has been observed to be a strong contributor in pathology of diabetes via its angiogenesis and apoptosis role, therefore in the present study we investigated the role of ATF6 polymorphisms (rs1058405; rs11579627; rs13401) in diabetic retinopathy (DR) susceptibility in Pakistani type 2 diabetes mellitus (T2DM) persons. ATF6 polymorphisms were genotyped on a...
Circulating tumor DNA (ctDNA) represents a small fraction of the total circulating free DNA and its analysis is increasingly used for diagnostic, prognostic and treatment purposes of cancer.ctDNA is released into the bloodstream from tumor cells through different mechanisms including apoptosis, necrosis, autophagy, and necroptosis. Liquid biopsy is a method used to detect specific cancer mutations...
Toll-like receptors (TLRs) play a key role in pathogen detection and initiating inflammatory response. Several lines of evidence have suggested chronic inflammation as one of the major factors linked to carcinogenesis. Single nucleotide polymorphisms (SNPs) in TLR genes including TLR4 have been shown to be associated with cancer susceptibility, although reports have been conflicting.The present case-control...
One of the most prevalent oral health problems is dental caries. It affects 60% to 90% of schoolchildren and the vast majority of adults. The purpose of this investigation was to investigate the genetic association of the ENAM gene polymorphism rs3796704 with dental caries in a case and control study. A total of 402 individuals participated in this study comprising 236 high dental caries and 166 low...
A common single nucleotide polymorphism (SNP) located in intron 4 of the EFEMP1 gene, rs3791675, has been reported to be associated with human height in European and Asian populations. The objective of this study is to examine the possible association of rs3791675-G with taller height in Oceanian populations. The rs3791675 SNP was genotyped for 636 adult subjects living in Tonga (Tonga population)...
Micro RNAs (miRNAs) are key regulators of gene expression and play important roles in the pathogenesis of cardiovascular diseases. We aimed to test whether five novel candidate miRNAs have different expressions in patients with obstructive coronary artery disease (CAD) and acute ST-segment elevation myocardial infarction (STEMI).In this study, total 135 patients with angina or acute myocardial infarction...
Chronic Periodontitis (CP)11Chronic Periodontitis. is a bacterial inflammatory condition accompanied with destruction of tissues surrounding periodontal ligament and tooth loss. There are reports of associations between mannose binding lectin-2 (MBL2)22Mannose binding lectin-2. gene polymorphisms and susceptibility to bacterial infections, however, a few studies have been performed on the role of...
Evolutionary forces during domestication process and breed formation have led to remarkable differences between wild and domestic sheep genomes. In this study, we compared genetic diversity of 13 Iranian Mouflons (Ovis orientalis) and 20 Iranian domestic sheep (Ovis aries) based on 86 candidate genes putatively involved in the domestication of sheep. Mean nucleotide diversity and mean expected heterozygosity...
Adducins help stabilize the spectrin-actin interactions along with other accessory cytoskeletal proteins. Adducins exist as a tetramer composed of either α/β or α/γ heterodimers. Polymorphisms in α-adducin (ADD1) gene have been shown to be associated with hypertension and erythrocyte deformability. Most of the non-synonymous single nucleotide polymorphisms (nsSNPs) of ADD1 are still uncharacterized...
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