352 research outputs found

    Genetic and epigenetic contribution to astrocytic gliomas pathogenesis

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    Astrocytic gliomas are the most common and lethal form of intracranial tumors. These tumors are characterized by a significant heterogeneity in terms of cytopathological, transcriptional, and (epi)genomic features. This heterogeneity has made these cancers one of the most challenging types of cancers to study and treat. To uncover these complexities and to have better understanding of the disease initiation and progression, identification, and characterization of underlying cellular and molecular pathways related to (epi)genetics of astrocytic gliomas is crucial. Here, we discuss and summarize molecular and (epi)genetic mechanisms that provide clues as to the pathogenesis of astrocytic gliomas. (Figure presented.). © 2018 International Society for Neurochemistr

    Genetic and epigenetic contribution to astrocytic gliomas pathogenesis

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    Astrocytic gliomas are the most common and lethal form of intracranial tumors. These tumors are characterized by a significant heterogeneity in terms of cytopathological, transcriptional, and (epi)genomic features. This heterogeneity has made these cancers one of the most challenging types of cancers to study and treat. To uncover these complexities and to have better understanding of the disease initiation and progression, identification, and characterization of underlying cellular and molecular pathways related to (epi)genetics of astrocytic gliomas is crucial. Here, we discuss and summarize molecular and (epi)genetic mechanisms that provide clues as to the pathogenesis of astrocytic gliomas. (Figure presented.). © 2018 International Society for Neurochemistr

    Genetic and epigenetic contribution to astrocytic gliomas pathogenesis

    Get PDF
    Astrocytic gliomas are the most common and lethal form of intracranial tumors. These tumors are characterized by a significant heterogeneity in terms of cytopathological, transcriptional, and (epi)genomic features. This heterogeneity has made these cancers one of the most challenging types of cancers to study and treat. To uncover these complexities and to have better understanding of the disease initiation and progression, identification, and characterization of underlying cellular and molecular pathways related to (epi)genetics of astrocytic gliomas is crucial. Here, we discuss and summarize molecular and (epi)genetic mechanisms that provide clues as to the pathogenesis of astrocytic gliomas. (Figure presented.). © 2018 International Society for Neurochemistr

    Adopting 3-Year Screening Intervals for Sight-Threatening Retinal Vascular Lesions in Type 2 Diabetic Subjects Without Retinopathy

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    OBJECTIVE-To report the incidence of sight-threatening vascular lesions in type 2 diabetic subjects without retinopathy after adopting a 3-year interval screening program. RESEARCH DESIGN AND METHODS-In all, 1,691 type 2 diabetic subjects with no detectable retinopathy in two 50 degrees red-free fundus photographs were scheduled for follow-up with photography 3 years later. Age at diabetes diagnosis was 60 +/- 12 years, and known duration of diabetes was 6 +/- 6 years. Treatment consisted of diet only (26%), oral agents (54%), and oral agents and/or insulin (20%). Glycated hemoglobin A(1c) was 6.4 +/- 1.5%. RESULTS-Of the 1,322 subjects available for follow-up, 73% were still without retinopathy after 3 years, and 28% had developed mild or moderate retinopathy, but none developed severe nonproliferative or proliferative retinopathy. Macular edema requiring laser coagulation occurred in only one eye. CONCLUSIONS-Three-year retinal screening intervals can be recommended in subjects with mild type 2 diabetes and no retinopathy

    Genetic and epigenetic contribution to astrocytic gliomas pathogenesis

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    Astrocytic gliomas are the most common and lethal form of intracranial tumors. These tumors are characterized by a significant heterogeneity in terms of cytopathological, transcriptional, and (epi)genomic features. This heterogeneity has made these cancers one of the most challenging types of cancers to study and treat. To uncover these complexities and to have better understanding of the disease initiation and progression, identification, and characterization of underlying cellular and molecular pathways related to (epi)genetics of astrocytic gliomas is crucial. Here, we discuss and summarize molecular and (epi)genetic mechanisms that provide clues as to the pathogenesis of astrocytic gliomas. (Figure presented.). © 2018 International Society for Neurochemistr

    Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex

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    Background: Epidermolysis bullosa simplex is a hereditary skin disorder caused by mutations in several genes such as KRT5 and KRT14. Skin fragility in basal keratinocytes presence regions led to the cytolysis of epidermis and blistering. Aim of this study was to detect the molecular defects in KRT5 and KRT14 genes hot spots in patients with clinical suspicion of EBS and investigation of their probable genotype-phenotype correlations. Methods: Exons 1 and 6-7 of KRT5 and exons 1 and 4-7 of KRT14 amplification and mutation detection were performed by polymerase chain reaction and Sanger sequencing, respectively. Novel variants pathogenicity evaluated by bioinformatics tools. Results: Nine important variants detected in seven different patients within 6 Iranian families affected by Epidermolysis bullosa simplex, of which four variants were novel. Three patients had a mottled pigmentation phenotype G96D (p. Gly96Asp) and F97I (p. Phe97Ile) in KRT5. One of them showed a Dowling-Meara phenotype A417P (p. Ala417Pro) and E477D (p. Glu477Asp) in KRT5 and another had a Koebner type phenotype R397I (p. Arg397Ile) and Q444* (p. Gln444Ter) in KRT5. A novel variant G92E (p. Gly92Glu) in KRT5 in a double heterozygous state with a challenging variant A413T (p. Ala413Thr) in KRT14 identified in one patient with Koebner type phenotype. Also, a previously reported mutation I377T (p. Ile377Thr) in KRT14 gene identified in this study. Conclusion: The results of molecular data analysis showed that the most severe phenotypes were associated with mutations in highly conserved regions. In some cases, different inheritance modes were observed. © Iran University of Medical Sciences

    Recepteurs de rake adaptatifs pour transmission DS-CDMA sur des canaux sélectifs en fréquence

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    - Dans ce papier, nous examinons les performances d'égaliseurs utilisables en liaison descendante DS/CDMA. Nous montrons qu'il est possible, à l'aide de récepteurs RAKE pré-combinant, d'obtenir des récepteurs simples et résistants à l'effet près-loin

    The effect of LINC01296 expression in patients with cancer: A systematic review and meta-analysis

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    Background: Recently has been suggested that LINC01296 has an important role in tumor-promoting in different malignancies. We performed first meta-analysis to assess the association between the LINC01296 expression and clinicopathological criteria and the survival of patients with cancers. Methods: Relevant articles Identified by PubMed, EMBASE, Web of Science, and Scopus searching between December 2000 and 28 December 2018. Binomial data were evaluated by the odds ratio (OR) as the rapid statistic. The association between overall survival (OS) and the LINC01296 expression was evaluated using pooling the hazard ratio (HR) with its corresponding 95 confidence interval (CI). Results: Finally, 9 studies with 720 patients with cancer were included. The expression of LINC01296 showed a significant positive association with TNM stage (OR = 2.67, 95 CI = 1.83-3.88), tumor stage (OR= 2.22, 95 CI= 1.34-3.66) and lymph node metastasis (OR = 3.07, 95 CI = 2.23-4.21). A shorter OS was significantly associated with the expression of LINC01296 (HR = 3.95, 95 CI = 2.65-5.25) and lymph node metastasis (HR = 2.39, 95 CI =1.16-3.63). The OS did not show significant association with gender (HR = 0.83, 95 CI =-0.63-2.30) and tumor stage (HR= 2.66, 95 CI=-0.22-5.54). Conclusion: In conclusion, the results of this meta-analysis suggest that the expression of LINC01296 might be considered as a potential biomarker in patients with cancer. © 2020 Asian Pacific Organization for Cancer Prevention

    Keratins and epidermolysis bullosa simplex

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    Keratin intermediate filaments play an important role in maintaining the integrity of the skin structure. Understanding the importance of this subject is possible with the investigation of keratin defects in epidermolysis bullosa simplex (EBS). Nowadays, in addition to clinical criteria, new molecular diagnostic methods, such as next generation sequencing, can help to distinguish the subgroups of EBS more precisely. Because the most important and most commonly occurring molecular defects in these patients are the defects of keratins 5 and14 (KRT5 and KRT14), comprehending the nature structure of these proteins and their involved processes can be very effective in understanding the pathophysiology of this disease and providing new and effective therapeutic platforms to treat it. Here, we summarized the various aspects of the presence of KRT5 and KRT14 in the epidermis, their relation to the incidence and severity of EBS phenotypes, and the processes with which these proteins can affect them. © 2018 Wiley Periodicals, Inc
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