Search Results - "Lombardo, Barbara"
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Beta-defensins and analogs in Helicobacter pylori infections: mRNA expression levels, DNA methylation, and antibacterial activity
Published in PloS one (19-09-2019)“…Antimicrobial peptides can protect the gastric mucosa from bacteria, but Helicobacter pylori (H. pylori) can equally colonize the gastric apparatus. To…”
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Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes
Published in International journal of molecular sciences (27-05-2021)“…Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases…”
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3
β-Defensins in the Fight against Helicobacter pylori
Published in Molecules (Basel, Switzerland) (07-03-2017)“…Antimicrobial peptides (AMPs) play a pivotal role in the innate immune responses to Helicobacter pylori (Hp) in humans. β-Defensins, a class of cationic…”
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The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers
Published in International journal of molecular sciences (12-09-2020)“…Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and…”
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5
The Biological Role of Vitamins in Athletes' Muscle, Heart and Microbiota
Published in International journal of environmental research and public health (23-01-2022)“…Physical activity, combined with adequate nutrition, is considered a protective factor against cardiovascular disease, musculoskeletal disorders, and…”
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Identification of a De Novo Deletion by Using A-CGH Involving PLNAX2: An Interesting Candidate Gene in Psychomotor Developmental Delay
Published in Medicina (Kaunas, Lithuania) (08-04-2022)“…Psychomotor developmental delay is a disorder with a prevalence of 12-18% in the pediatric population, characterized by the non-acquisition of motor, cognitive…”
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Exercise, Immune System, Nutrition, Respiratory and Cardiovascular Diseases during COVID-19: A Complex Combination
Published in International journal of environmental research and public health (21-01-2021)“…Coronaviruses (CoVs) represent a large family of RNA viruses that can infect different living species, posing a global threat to human health. CoVs can evade…”
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Positive effects of physical activity in autism spectrum disorder: how influences behavior, metabolic disorder and gut microbiota
Published in Frontiers in psychiatry (10-10-2023)“…Autism spectrum disorder is a neurodevelopmental disorder characterized by social interactions and communication skills impairments that include intellectual…”
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Human Defensins: A Novel Approach in the Fight against Skin Colonizing Staphylococcus aureus
Published in Antibiotics (Basel) (21-04-2020)“…Staphylococcus aureus is a microorganism capable of causing numerous diseases of the human skin. The incidence of S. aureus skin infections reflects the…”
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10
A Novel View of Human Helicobacter pylori Infections: Interplay between Microbiota and Beta-Defensins
Published in Biomolecules (Basel, Switzerland) (18-06-2019)“…The gut microbiota is significantly involved in the preservation of the immune system of the host, protecting it against the pathogenic bacteria of the…”
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Identification of a novel variant of epsilon‐gamma‐delta‐beta thalassemia highlights limitations of next generation sequencing
Published in American journal of hematology (01-03-2015)Get full text
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Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
Published in International journal of molecular sciences (22-11-2017)“…The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible mutations,…”
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Combined aCGH and Exome Sequencing Analysis Improves Autism Spectrum Disorders Diagnosis: A Case Report
Published in Medicina (Kaunas, Lithuania) (07-04-2022)“…: The development and standardization of genome-wide technologies able to carry out high-resolution, genomic analyses in a cost- and time-affordable way is…”
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14
D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans
Published in Translational psychiatry (01-08-2022)“…The D-aspartate oxidase ( DDO ) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain…”
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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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Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome
Published in Molecular genetics & genomic medicine (01-07-2020)“…Background Syndromic dilated cardiomyopathy (DCM) includes a group of complex disorders with a very heterogeneous genetic etiology, leading…”
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Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis
Published in Cardiogenetics (07-04-2020)“…Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular…”
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Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge
Published in Diagnostics (Basel) (01-11-2021)“…Laboratory medicine, along with genetic investigations in sports medicine, is taking on an increasingly important role in monitoring athletes’ health…”
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HNP-1 and HBD-1 as Biomarkers for the Immune Systems of Elite Basketball Athletes
Published in Antibiotics (Basel) (01-06-2020)“…Acute or strenuous exercise is sometimes related to upper respiratory tract infections in athletes. Practicing intense and regular exercise can lead to…”
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Methicillin-Resistant Staphylococcus aureus: Risk for General Infection and Endocarditis Among Athletes
Published in Antibiotics (Basel) (18-06-2020)“…The first studies on Staphylococcus aureus (SA) infections in athletes were conducted in the 1980s, and examined athletes that perform in close physical…”
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