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  • 1
    Online Resource
    Online Resource
    A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
    Hindawi Limited ; 2014
    In:  BioMed Research International Vol. 2014 ( 2014), p. 1-6
    Details
    In: BioMed Research International, Hindawi Limited, Vol. 2014 ( 2014), p. 1-6
    Abstract: Primary localized cutaneous amyloidosis (PLCA) is a chronic skin disorder, caused by amyloid material deposition in the upper dermis. Autosomal dominant PLCA has been mapped earlier to pathogenic missense mutations in the OSMR gene, which encodes the oncostatin M receptor ß subunit (OSMRß). OSMRß is interleukin-6 family cytokine receptors and possesses two ligands, oncostatin M and interleukin-31, which both have biologic roles in inflammation and keratinocyte cell proliferation, differentiation, and apoptosis. Here, we identified a new OSMR mutation in a Kurdish family for the first time. Blood samples were taken from all the affected individuals in the family. DNA extraction was performed using salting out technique. Primers were designed for intron flanking individual exons of OSMR gene which were subjected to direct sequencing after PCR amplification for each sample. Sequencing showed a C/T substitution at position 613 in the proband. This mutation results in an L613S (leucine 613 to serine) amino acid change. The identified mutation was observed in all affected family members but not in 100 ethnically matched healthy controls. Elucidating the molecular basis of familial PLCA provides new insight into mechanisms of itch in human skin and may lead to new therapeutic targets for pruritus.
    Type of Medium: Online Resource
    ISSN: 2314-6133 , 2314-6141
    URL: Article
    DOI: 10.1155/2014/653724
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2014
    detail.hit.zdb_id: 2698540-8
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  • 2
    Online Resource
    Online Resource
    Two Polymorphisms in the Epithelial Cell-Derived Neutrophil-Activating Peptide (ENA-78) Gene
    Hindawi Limited ; 2005
    In:  Disease Markers Vol. 21, No. 2 ( 2005), p. 75-77
    Details
    In: Disease Markers, Hindawi Limited, Vol. 21, No. 2 ( 2005), p. 75-77
    Abstract: Increased expression of epithelial cell-derived neutrophil-activating peptide (ENA-78) has been reported in several immune and inflammatory conditions suggesting its role in inflammatory response. We have identified two single nucleotide polymorphisms in the promoter and exon 2 of the ENA-78 gene by scanning the full length gene using DHPLC DNA fragment analysis and DNA sequencing. The polymorphism at position +398 (A/G from the first ATG codon) in exon 2 results in a synonymous substitution not resulting in an amino acid change. The promoter polymorphism was found at position −156 (C/G from the first ATG codon). An assay was designed for the detection of the polymorphisms using SNapshot ddNTP primer extension, followed by capillary electrophoresis (ABI 3100). Allele and genotype frequencies for the promoter −156 polymorphism are presented for 107 healthy Spanish and 54 UK Caucasians. Frequencies for the exon 2 polymorphism are also presented for 63 UK Caucasians.
    Type of Medium: Online Resource
    ISSN: 0278-0240 , 1875-8630
    URL: Article
    DOI: 10.1155/2005/864525
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2005
    detail.hit.zdb_id: 2033253-1
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  • 3
    Online Resource
    Online Resource
    HLA-DR Association in Papillary Thyroid Carcinoma
    Hindawi Limited ; 2010
    In:  Disease Markers Vol. 28, No. 1 ( 2010), p. 49-53
    Details
    In: Disease Markers, Hindawi Limited, Vol. 28, No. 1 ( 2010), p. 49-53
    Abstract: Objective: Papillary thyroid carcinoma (PTC) is the most frequent types of thyroid malignancies. Several genes may be involved in susceptibility of thyroid cancer including Human Leukocyte Antigens (HLA). The association of thyroid carcinoma with HLA alleles has been previously studied in other populations and certain HLA alleles were shown to be either predisposing or protective. The aim of this study was to determine the association between HLA-DR and papillary thyroid carcinoma in an Iranian population. Design: HLA-DR antigen frequencies were determined in patients with papillary thyroid carcinoma (N = 70) and non-related healthy controls (N=180) using PCR -SSP. Main Outcome: We found that HLA-DRB1*04 frequency was significantly higher in our patients compared to the controls [ P = 0.02, OR; 1.9, 95% CI (1.04–3.57)]. Conclusions: Our results revealed HLA-DRB1*04 as predisposing factor in papillary thyroid carcinoma in Iranian population. This confirms the previous findings for associations between HLA-DRB1 and differentiated carcinomas in other populations.
    Type of Medium: Online Resource
    ISSN: 0278-0240 , 1875-8630
    URL: Article
    DOI: 10.1155/2010/130276
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2010
    detail.hit.zdb_id: 2033253-1
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  • 4
    Online Resource
    Online Resource
    eNOS Gene Variant in Patients with Coronary Artery Disease
    Hindawi Limited ; 2013
    In:  Journal of Biomarkers Vol. 2013 ( 2013-12-04), p. 1-6
    Details
    In: Journal of Biomarkers, Hindawi Limited, Vol. 2013 ( 2013-12-04), p. 1-6
    Abstract: Subject & Aim . Endothelial nitric oxide synthase (eNOS) is one of the most important candidate genes in CAD. A functional polymorphism within eNOS gene is a 27 bp VNTR on its intron 4 which has been shown to be associated with various diseases. In this study we investigated eNOS VNTR polymorphism in addition to eNOS gene expression profile in patients with CAD. Material and Methods . The study comprised patients with angiographically confirmed CAD (CAD + ) and individuals with normal coronary as CAD − . eNOS VNTR polymorphism frequencies were determined in both groups. In addition eNOS gene expression profile was examined using a quantitative real-time PCR. Results . We have found that aa genotype was significantly increasing the risk of CAD in our patients (aa versus ab + bb, , ; 95% CI: = 0.98 to 16.2). The differences in eNOS expression were not significant between patients and normal group; however in CAD + patients eNOS expression was higher than the expression level of patients carrying other genotypes (). Conclusion . We have observed that eNOS gene polymorphism was associated with CAD in angiography-confirmed patients. However, the difference in eNOS gene expression was not statistically significant between patients and control which might be due to the contribution of other confounding factors which require further investigations.
    Type of Medium: Online Resource
    ISSN: 2090-8660 , 2090-7699
    URL: Article
    DOI: 10.1155/2013/403783
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2013
    detail.hit.zdb_id: 2779172-5
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  • 5
    Online Resource
    Online Resource
    Association between Genetic Variants and Diabetes Mellitus in Iranian Populations: A Systematic Review of Observational Studies
    Hindawi Limited ; 2015
    In:  Journal of Diabetes Research Vol. 2015 ( 2015), p. 1-21
    Details
    In: Journal of Diabetes Research, Hindawi Limited, Vol. 2015 ( 2015), p. 1-21
    Abstract: Introduction. Diabetes mellitus as the most prevalent metabolic disease is a multifactorial disease which is influenced by environmental and genetic factors. In this systematic review, we assessed the association between genetic variants and diabetes/its complications in studies with Iranian populations. Methods. Google Scholar, PubMed, Scopus, and Persian web databases were systematically searched up to January 2014. The search terms were “gene,” “polymorphism,” “diabetes,” and “diabetic complications”; nephropathy, retinopathy, neuropathy, foot ulcer, and CAD (coronary artery diseases); and Persian equivalents. Animal studies, letters to editor, and in vitro studies were excluded. Results. Out of overall 3029 eligible articles, 88 articles were included. We found significant association between CTLA-4, IL-18, VDR, TAP2, IL-12, and CD4 genes and T1DM, HNF α and MODY, haptoglobin, paraoxonase, leptin, TCF7L2, calreticulin, ER α , PPAR- γ 2, CXCL5, calpain-10, IRS-1 and 2, GSTM1, KCNJ11, eNOS, VDR, INSR, ACE, apoA-I, apo E, adiponectin, PTPN1, CETP, AT1R, resistin, MMP-3, BChE K, AT2R, SUMO4, IL-10, VEGF, MTHFR, and GSTM1 with T2DM or its complications. Discussion. We found some controversial results due to heterogeneity in ethnicity and genetic background. We thought genome wide association studies on large number of samples will be helpful in identifying diabetes susceptible genes as an alternative to studying individual candidate genes in Iranian populations.
    Type of Medium: Online Resource
    ISSN: 2314-6745 , 2314-6753
    URL: Article
    DOI: 10.1155/2015/585917
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2015
    detail.hit.zdb_id: 2711897-6
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  • 6
    Online Resource
    Online Resource
    IL-23 Gene Expression in PBMCs of Patients with Coronary Artery Disease
    Hindawi Limited ; 2012
    In:  Disease Markers Vol. 33, No. 6 ( 2012), p. 289-293
    Details
    In: Disease Markers, Hindawi Limited, Vol. 33, No. 6 ( 2012), p. 289-293
    Abstract: Objective: Both adaptive and innate immune systems are involved in coronary artery disease (CAD). The aim of this study was to evaluate TH17 cytokines expression profiles in un-stimulated peripheral blood lymphocytes (PBMCs) of patients with coronary artery disease. Methods: Expression profiles of IL-17, IL-23, and TGF-β1 were determined in individuals with and without CAD using Real-time PCR. Results: A significant decrease in IL-23 gene expression in un-stimulated PBMCs of patients with CAD compared to those without CAD was found (p=0.003, OR=0.045, 95% CI: 0.006–0.355). Conclusion: Our data reinforce the potential role of the IL-23 as a critical regulatory molecule that bridges the innate and adaptive arms of the immune system in the complex mechanisms associated with the development of atherosclerosis.
    Type of Medium: Online Resource
    ISSN: 0278-0240 , 1875-8630
    URL: Article
    DOI: 10.1155/2012/629814
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2012
    detail.hit.zdb_id: 2033253-1
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  • 7
    Online Resource
    Online Resource
    Absence of kl-vs Variant of Klotho Gene in Iranian Cardiac Patients (Comparison to the World Populations)
    Hindawi Limited ; 2011
    In:  Disease Markers Vol. 31, No. 4 ( 2011), p. 211-214
    Details
    In: Disease Markers, Hindawi Limited, Vol. 31, No. 4 ( 2011), p. 211-214
    Abstract: Objective: Klotho has an important role in development of coronary artery (CAD) disease. A functional variant of klotho gene (kl-vs) has been found as an independent risk factor for early-onset occult coronary artery disease (CAD) in previous studies. The Frequency of this variant was not known in Iranian population. We have examined the allele frequency of the kl-vs variant in a case-control study in an Iranian population. Methods and results: Genotyping for kl-vs variant was carried out in N = 107 individuals including N = 54 cases and N = 53 control who all underwent coronary angiogram for CAD evaluation. Patients with 〉 50% stenosis in vessels considered as case groups (or CAD + ) and patients with normal vessels (or CAD − ) as controls. The frequency of kl-vs variant was determined in these patients using PCR-RFLP technique. None of the individual was carrying the kl-vs mutation in our samples. The frequency of kl-vs mutation was significantly different from previous studies in different populations. Conclusion: The kl-vs variant seems to be scare found in the Iranian population in comparison to other populations reported previously. Klotho gene might be a candidate gene of atherosclerosis in some populations but not in Iranian population. Further studies are required to examine the frequency of kl-vs variant in other populations from the Middle East.
    Type of Medium: Online Resource
    ISSN: 0278-0240 , 1875-8630
    URL: Article
    DOI: 10.1155/2011/842932
    Language: English
    Publisher: Hindawi Limited
    Publication Date: 2011
    detail.hit.zdb_id: 2033253-1
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