Search Results - "Scaglione, Giovanni"
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Homologous Recombination Deficiency (HRD) Scoring, by Means of Two Different Shallow Whole-Genome Sequencing Pipelines (sWGS), in Ovarian Cancer Patients: A Comparison with Myriad MyChoice Assay
Published in International journal of molecular sciences (01-12-2023)“…High-grade serous ovarian cancer (HGSOC) patients carrying the mutation or deficient in the homologous recombination repair system (HRD) generally benefit from…”
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One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study
Published in Clinica chimica acta (01-01-2024)“…Cystic fibrosis is the most common hereditary recessive disease with an incidence of about 1:2500/3000. It has long been known that the disease is caused by…”
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3
A Whole Germline BRCA2 Gene Deletion: How to Learn from CNV In Silico Analysis
Published in International journal of molecular sciences (23-03-2018)“…screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management. Next-Generation Sequencing (NGS) can…”
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Impact of early antiviral therapy on SARS-CoV-2 clearance time in high-risk COVID-19 subjects: A propensity score matching study
Published in International journal of infectious diseases (01-12-2024)“…•Early treatments against COVID-19 reduce the time to negative test results.•Early treatments against COVID-19 reduce the risk of disease progression.•COPD…”
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Understanding the burden of antibiotic resistance: a decade of carbapenem-resistant Gram-negative bacterial infections in Italian intensive care units
Published in Frontiers in microbiology (05-06-2024)“…In patients admitted to intensive care units (ICUs), Gram-negative bacteria (GNB) infections pose significant challenges due to their contribution to…”
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Nucleophosmin C-terminal Leukemia-associated Domain Interacts with G-rich Quadruplex Forming DNA
Published in The Journal of biological chemistry (26-11-2010)“…Nucleophosmin (NPM1) is a nucleocytoplasmic shuttling phosphoprotein, mainly localized at nucleoli, that plays a key role in ribogenesis, centrosome…”
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Early administration of nirmatrelvir/ritonavir leads to faster negative SARS-CoV-2 nasal swabs than monoclonal antibodies in COVID 19 patients at high-risk for severe disease
Published in Virology journal (20-03-2024)“…Besides the well-established efficacy in preventing severe COVID-19, the impact of early treatments, namely antivirals and monoclonal antibodies (mAbs), on the…”
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Epidemiology and Clinical Insights of Catheter-Related Candidemia in Non-ICU Patients with Vascular Access Devices
Published in Microorganisms (Basel) (06-08-2024)“…Vascular access devices (VADs), namely peripheral VADs (PVADs) and central venous VADs (CVADs), are crucial in both intensive care unit (ICU) and non-ICU…”
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Nasopharyngeal Microbiome Signature in COVID-19 Positive Patients: Can We Definitively Get a Role to Fusobacterium periodonticum ?
Published in Frontiers in cellular and infection microbiology (15-02-2021)“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused the pandemic Coronavirus Disease 2019 (COVID-19). This virus is highly transmissible among…”
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The healing process of diabetic ulcers correlates with changes in the cutaneous microbiota
Published in Scientific reports (12-11-2024)“…Skin microbiota plays an essential role in the development and function of the cutaneous immune system, in the maintenance of the skin barrier through the…”
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Enhanced NAMPT-Mediated NAD Salvage Pathway Contributes to Psoriasis Pathogenesis by Amplifying Epithelial Auto-Inflammatory Circuits
Published in International journal of molecular sciences (01-07-2021)“…Dysregulated cross-talk between immune cells and epithelial compartments is responsible for the onset and amplification of pathogenic auto-inflammatory…”
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Nucleophosmin mutations alter its nucleolar localization by impairing G-quadruplex binding at ribosomal DNA
Published in Nucleic acids research (01-03-2013)“…Nucleophosmin (NPM1) is an abundant nucleolar protein implicated in ribosome maturation and export, centrosome duplication and response to stress stimuli. NPM1…”
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Identification of immunological patterns characterizing immune-related psoriasis reactions in oncological patients in therapy with anti-PD-1 checkpoint inhibitors
Published in Frontiers in immunology (01-03-2024)“…Immunotherapy with biologics targeting programmed cell death protein-1 (PD-1) is highly effective in the treatment of various malignancies. Nevertheless, it is…”
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COVID-19 Vaccine: A Potential Risk Factor for Accelerating the Onset of Bullous Pemphigoid
Published in Vaccines (Basel) (05-09-2024)“…Bullous pemphigoid (BP) is the most common autoimmune bullous disease, whose main autoantigens are hemidesmosomal components BP180 and BP230. Although recent…”
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Allelic Variants of HLA-C Upstream Region, PSORS1C3, MICA, TNFA and Genes Involved in Epidermal Homeostasis and Barrier Function Influence the Clinical Response to Anti-IL-12/IL-23 Treatment of Patients with Psoriasis
Published in Vaccines (Basel) (21-11-2022)“…Several biologic therapies have been developed to treat moderate-to-severe psoriasis, with patients exhibiting different clinical benefits, possibly due to the…”
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PI3Kδ Sustains Keratinocyte Hyperproliferation and Epithelial Inflammation: Implications for a Topically Druggable Target in Psoriasis
Published in Cells (Basel, Switzerland) (02-10-2021)“…The phosphatidylinositol 3-kinase (PI3K)-dependent signaling pathway is aberrantly activated in psoriatic lesions and contributes to disease pathogenesis…”
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Paradoxical psoriasis induced by TNF‐α blockade shows immunological features typical of the early phase of psoriasis development
Published in The journal of pathology. Clinical research (01-01-2020)“…Immunomodulation with anti‐TNF‐α is highly effective in the treatment of various immune‐mediated inflammatory diseases, including hidradenitis suppurativa…”
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Case Report: Detection of a Novel Germline PALB2 Deletion in a Young Woman With Hereditary Breast Cancer: When the Patient's Phenotype History Doesn't Lie
Published in Frontiers in oncology (24-02-2021)“…The partner and localizer of ( ) is a major binding partner that participates in homologous recombination repair in response to DNA double-strand breaks…”
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The performance of multi-gene panels for breast/ovarian cancer predisposition
Published in Clinica chimica acta (15-01-2023)“…•Evaluation of performances of two different multi-gene panels methodologies.•Identification of genetic variants that may predispose to breast and/or ovarian…”
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CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype
Published in Clinical chemistry and laboratory medicine (25-10-2019)“…Loss of function mutations in the CYP24A1 gene, involved in vitamin D catabolism and in calcium homeostasis, are known to be the genetic drivers of both…”
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