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Article
Open AccessSARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation
As an inherited disorder characterized by severe pulmonary disease, cystic fibrosis could be considered a comorbidity for coronavirus disease 2019. Instead, current clinical evidence seems to be heading in the...
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Protocol
Delivery of Peptide Nucleic Acids Using an Argininocalix[4]arene as Vector
The importance of peptide nucleic acids (PNAs) for alteration of gene expression is nowadays firmly established. PNAs are characterized by a pseudo-peptide backbone composed of N-(2-aminoethyl)glycine units and h...
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Protocol
Peptide Nucleic Acids for MicroRNA Targeting
The involvement of microRNAs in human pathologies is firmly established. Accordingly, the pharmacological modulation of microRNA activity appears to be a very interesting approach in the development of new typ...
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Article
Surface plasmon resonance based analysis of the binding of LYAR protein to the rs368698783 (G>A) polymorphic Aγ-globin gene sequences mutated in β-thalassemia
Recent studies have identified and characterized a novel putative transcriptional repressor site in a 5′ untranslated region of the Aγ-globin gene that interacts with the Ly-1 antibody reactive clone (LYAR) pr...
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Article
Development and characterization of cellular biosensors for HTS of erythroid differentiation inducers targeting the transcriptional activity of γ-globin and β-globin gene promoters
There is a general agreement that pharmacologically mediated stimulation of human γ-globin gene expression and increase of production of fetal hemoglobin (HbF) is a potential therapeutic approach in the experi...
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Article
Non-invasive Prenatal Testing Using Fetal DNA
Non-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with conventional invasive techniques. During pregnancy, the...
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Article
Open AccessMicroRNAs and Long Non-coding RNAs in Genetic Diseases
Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation ...
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Article
Open AccessEfficient cell penetration and delivery of peptide nucleic acids by an argininocalix[4]arene
The application of Peptide Nucleic Acids (PNAs), mimics of DNA lacking the sugar-phosphate backbone, for antisense/anti-gene therapy and gene editing is limited by their low uptake by cells. Currently, no simp...
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Article
Open AccessLiquid biopsy in mice bearing colorectal carcinoma xenografts: gateways regulating the levels of circulating tumor DNA (ctDNA) and miRNA (ctmiRNA)
Circulating tumor DNA (ctDNA) and miRNA (ctmiRNA) are promising biomarkers for early tumor diagnosis, prognosis and monitoring, and to predict therapeutic response. However, a clear understanding of the fine c...
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Article
Changes in hemoglobin profile reflect autologous blood transfusion misuse in sports
The changes in hemoglobin (Hb) profile following autologous blood transfusion (ABT) for the first time were studied for anti-do** purposes. Twenty-four healthy, trained male subjects (aged 18‒40) were enroll...
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Article
Open AccessUPF1 silenced cellular model systems for screening of read-through agents active on β039 thalassemia point mutation
Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia. For instance, in β039 thalassemia t...
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Article
Open AccessAn Aγ-globin G->A gene polymorphism associated with β039 thalassemia globin gene and high fetal hemoglobin production
Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for H...
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Article
Open AccessNew insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes
Shwachman-Diamond syndrome (SDS) is an inherited disease caused by mutations of a gene encoding for SBDS protein. So far little is known about SBDS exact function. SDS patients present several hematological di...
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Article
Open AccessA validated cellular biobank for β-thalassemia
Cellular biobanking is a key resource for collaborative networks planning to use same cells in studies aimed at solving a variety of biological and biomedical issues. This approach is of great importance in st...
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Article
Structural and Functional Insights on an Uncharacterized Aγ-Globin-Gene Polymorphism Present in Four β0-Thalassemia Families with High Fetal Hemoglobin Levels
Several DNA polymorphisms have been associated with high production of fetal hemoglobin (HbF), although the molecular basis is not completely understood. In order to identify and characterize novel HbF-associa...
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Article
Open AccessRegulation of IL-8 gene expression in gliomas by microRNA miR-93
Different strategies have been proposed to target neoangiogenesis in gliomas, besides those targeting Vascular Endothelial Growth Factor (VEGF). The chemokine Interleukin-8 (IL-8) has been shown to possess bot...
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Article
Isothermal circular-strand-displacement polymerization of DNA and microRNA in digital microfluidic devices
Nucleic-acid amplification is a crucial step in nucleic-acid-sequence-detection assays. The use of digital microfluidic devices to miniaturize amplification techniques reduces the required sample volume and th...
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Article
Uptake by human glioma cell lines and biological effects of a peptide-nucleic acids targeting miR-221
MicroRNAs are a family of small noncoding RNAs regulating gene expression by sequence-selective mRNA targeting, leading to a translational repression or mRNA degradation. The oncomiR miR-221 is highly expresse...
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Protocol
Molecular Methods for Validation of the Biological Activity of Peptide Nucleic Acids Targeting MicroRNAs
The involvement of microRNAs in human pathologies is a firmly established fact. Accordingly, the pharmacological modulation of their activity appears to be a very appealing issue in the development of new type...
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Chapter and Conference Paper
Bioethics and Freedom of Scientific Research in Gene Therapy and Stem Cell Biology
Several projects and research fields are expected to strongly contribute to solving therapeutic or diagnostic issues by providing new technological solutions for molecular healthcare. One example, related to d...
