Publications by authors named "Marra M"

The advent of long-read (LR) sequencing technologies has provided a direct opportunity to determine the structure of transcripts with potential for end-to-end sequencing of full-length RNAs. LR methods that have been described to date include commercial offerings from Oxford Nanopore Technologies (ONT) and Pacific Biosciences. These kits are based on selection of polyadenylated (polyA+) RNAs and/or oligo-dT priming of reverse transcription.

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Human papillomavirus (HPV) integration has been implicated in transforming HPV infection into cancer. To resolve genome dysregulation associated with HPV integration, we performed Oxford Nanopore long-read sequencing on 72 cervical cancer genomes from an Ugandan dataset that was previously characterized using short-read sequencing. We found recurrent structural rearrangement patterns at HPV integration events, which we categorized as: del(etion)-like, dup(lication)-like, translocation, multibreakpoint, or repeat region integrations.

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-heterocyclic carbene (NHC)-gold and -silver complexes have attracted the interest of the scientific community because of their multiple applications and their versatility in being chemically modified in order to improve their biological properties. However, most of these complexes contain one or more chiral centers, and have been obtained and studied as racemic mixture. In particular, concerning the interesting biological and medicinal properties, many questions about how the chirality may influence these properties still remain unanswered.

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The journal's Editorial Office and Editorial Board are jointly issuing a resolution and removal of the linked to this article [...

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Background: Loss-of-function (LOF) alterations in tumour suppressor genes cannot be directly targeted. Approaches characterising gene function and vulnerabilities conferred by such mutations are required.

Methods: Here, we computationally map genetic networks of KMT2D, a tumour suppressor gene frequently mutated in several cancer types.

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Aims: While factors associated with adverse events are well elucidated in setting of isolated left ventricular dysfunction, clinical and imaging-based prognosticators of adverse outcomes are lacking in context of biventricular dysfunction. The purpose of this study was to establish role of clinical variables in prognosis of biventricular heart failure (HF), as assessed by cardiac magnetic resonance imaging.

Methods: Study cohort consisted of 840 patients enrolled in DERIVATE registry with coexisting CMR-derived right ventricular (RV) and left ventricular (LV) dysfunction, as defined by RV and LV ejection fractions ≤45 % and ≤ 50 %, respectively.

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Phosducin-like proteins (PhLP) are thioredoxin domain-containing proteins that are highly conserved across unicellular and multicellular organisms. PhLP family proteins are hypothesized to function as co-chaperones in the folding of cytoskeletal proteins. Here, we present the initial molecular, biochemical, and functional characterization of CG4511 as Drosophila melanogaster PhLP3.

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This study investigates dietary supplement use among rugby players and their general health, focusing on prevalence and underlying motivations. Involving 92 athletes, it examines the relationship between supplement usage, motivations, and health outcomes using the 36-item Short Form Health Survey and a 24-item ad hoc questionnaire. Findings reveal a high frequency of supplement usage, motivated by desires to enhance performance, appearance, and mood.

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In recent years, the number of members of the Italian Association of Epidemiology (AIE) has increased considerably, and their profile has undergone many changes. The aim of this work is to describe the characteristics of the members, with particular attention to those who have been continuously enrolled. To evaluate these characteristics, the data from membership forms submitted to the Association and information available on the new website in the personal profile area (period 2016-2024) were used.

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Article Synopsis
  • The Long-Read Personalized OncoGenomics (POG) dataset features 189 patient tumors and 41 matched normal samples, sequenced with Oxford Nanopore Technologies, providing a comprehensive resource for cancer research.
  • It highlights the advantages of long-read sequencing in identifying complex structural variants, viral integrations, and specific DNA behaviors, such as prominent methylation patterns associated with various cancers.
  • The findings underscore the potential of this dataset in precision medicine, serving as a tool for advancing analytical techniques in cancer genomics.
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Background & Aims: Breast cancer (BC) is frequently linked with obesity, metabolic syndrome, and sarcopenia. Therefore, measuring or accurately estimating resting energy expenditure (REE) is crucial for tailoring nutritional needs, managing weight and prevent under- or over-nutrition. We aimed to measure and compare REE between women with BC and a matched control group.

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  • * Combination antiretroviral therapy (cART) is commonly used to combat HIV by blocking multiple replication stages of the virus, but it leads to drug resistance and the formation of latent HIV reservoirs.
  • * Current research focuses on developing new antiviral drugs, vaccines, and updated cART strategies while examining the roles of macrophages and cellular reservoirs in HIV persistence and treatment effectiveness.
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Dittrichia viscosa (L.) Greuter, a perennial plant in the Asteraceae, has strong allelopathic activity due to the high content of various secondary metabolites. The bicyclic sesquiterpenoid α-costic acid is the most abundant secondary metabolite of D.

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Purpose: Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (REs) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in better management of patients with IRD and provide insights into understanding genetic associations with RE.

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  • * Histological analysis showed specific cell characteristics and confirmed the presence of the FUS::TFCP2 fusion, indicating a rare subtype of soft tissue sarcoma that can significantly influence treatment options.
  • * The patient responded rapidly to the ALK inhibitor alectinib, but the response was short-lived due to the advanced stage of the disease, highlighting the need for targeted therapies in such rare cancer cases.
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Despite advances in sequencing technologies, a molecular diagnosis remains elusive in many patients with Mendelian disease. Current short-read clinical sequencing approaches cannot provide chromosomal phase information or epigenetic information without further sample processing, which is not routinely done and can result in an incomplete molecular diagnosis in patients. The ability to provide phased genetic and epigenetic information from a single sequencing run would improve the diagnostic rate of Mendelian conditions.

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The prevalence of obesity has become a global health concern, with significant impacts on quality of life and mortality rates. Recent research has highlighted the role of ultra-processed foods (UPFs) in driving the obesity epidemic. UPFs undergo extensive processing, often containing high levels of sugars, fats, and additives, while lacking essential nutrients.

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Article Synopsis
  • The ketogenic diet (KD) is a way of eating that reduces carbs and increases fats and proteins, helping the body use fat for energy instead of sugar.
  • Recent studies suggest that KD might help lower the risk of some diseases like diabetes, heart disease, and even certain cancers.
  • The KD could also help with brain diseases like Alzheimer’s and Parkinson’s by reducing inflammation in the brain.
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N-heterocyclic carbenes (NHCs) represent suitable ligands for rapid and efficient drug design, because they offer the advantage of being easily chemically modified and can bind several substituents, including transition metals as, for instance, gold derivatives. Gold-NHC complexes possess various biological activities and were demonstrated good candidates as anticancer drugs. Besides, carbazole derivatives are characterized by various pharmacological properties, such as anticancer, antibacterial, anti-inflammatory, and anti-psychotropic.

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  • This study investigates how chest CT scans can assess lung damage in older COVID-19 patients and explore the link between imaging results and certain circulating markers in the blood, specifically microRNAs.
  • A retrospective analysis of 73 patients aged 75 and above identified CT parameters like lung consolidation percentage and CT-score as significant predictors of mortality in these patients.
  • The findings suggest that higher levels of serum microRNA miR-483-5p relate to greater lung involvement, helping to predict outcomes in older adults with COVID-19 pneumonia.
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Since ancient times, L. (AV) has attracted scientific interest because of its multiple cosmetic and medicinal properties, attributable to compounds present in leaves and other parts of the plant. The collected literature data show that AV and its products have a beneficial influence on human health, both by topical and oral use, as juice or an extract.

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The biological activity of structural HIV-1 proteins is not limited to ensuring a productive viral infection but also interferes with cellular homeostasis through intra- and extracellular signaling activation. This interference induces genomic instability, increases the lifespan of the infected cell by inhibiting apoptosis, and subverts cell senescence, resulting in unrestricted cell proliferation. HIV structural proteins are present in a soluble form in the lymphoid tissues and blood of infected individuals, even without active viral replication.

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Background: Effective rehabilitation after limb loss is necessary to maximize function and promote independence. Physical therapists (PT) are one of the primary drivers of the rehabilitation process. While general physical therapy knowledge and abilities have been shown to be important to the rehabilitation process, it is unclear what individuals with limb loss value in their PT's.

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