A5074857210- BRCA gene mutations in cancer
- Cardiomyopathy and Myosin Studies
- CRISPR and Genetic Engineering
- Cancer Genomics and Diagnostics
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Rheumatoid Arthritis Research and Therapies
- Microscopic Colitis
- Colorectal Cancer Screening and Detection
- RNA Research and Splicing
- Systemic Lupus Erythematosus Research
- RNA and protein synthesis mechanisms
- Gut microbiota and health
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- DNA Repair Mechanisms
- Various Chemistry Research Topics
- Cystic Fibrosis Research Advances
- Genetic factors in colorectal cancer
- Gestational Diabetes Research and Management
- Peptidase Inhibition and Analysis
- Chromatin Remodeling and Cancer
- Immunodeficiency and Autoimmune Disorders
- Neuroscience and Neuropharmacology Research
- Oral Health Pathology and Treatment
Ceinge Biotecnologie Avanzate (Italy)
2016-2025
University of Naples Federico II
2015-2025
Federico II University Hospital
2022
Parthenope University of Naples
2017
Breast cancer (BC) is the most common malignancy in women, whom it reaches 20% of total neoplasia incidence. Most BCs are considered sporadic and a number factors, including familiarity, age, hormonal cycles diet, have been reported to be BC risk factors. Also gut microbiota plays role breast development. In fact, its imbalance has associated various human diseases although consequential cause-effect phenomenon never proven.The aim this work was characterize tissue microbiome 34 women...
Accurate and sensitive detection of BRCA1/2 germ-line mutations is crucial for the clinical management women affected by breast cancer, prevention and, notably, also identification at-risk healthy relatives. The most widely used methods molecular analysis are Sanger sequencing, denaturing high performance liquid chromatography (dHPLC) followed method. However, recent findings suggest that next-generation sequencing (NGS)-based approaches may be an efficient tool diagnostic purposes. In this...
The purpose of this study was to assess the value genetic testing in addition a comprehensive clinical evaluation, as part diagnostic work-up elite and/or amateur Italian athletes referred for suspicion inherited cardiac disease, following pre-participation screening programme.Between January 2009-December 2018, 5892 consecutive participants, 61 were investigated: 30 and 31 athletes. Elite selected, on basis from two experienced centres cardiovascular evaluation. Furthermore, investigated...
Colorectal cancer (CRC) is one of the most common malignancies in Western world and intestinal dysbiosis might contribute to its pathogenesis. The mucosal colon microbiome C-C motif chemokine 2 (CCL2) were investigated 20 healthy controls (HC) CRC patients using 16S rRNA sequencing immunoluminescent assay, respectively. A total 10 HC subjects classified as overweight/obese (OW/OB_HC) normal weight (NW_HC); 15 OW/OB_CRC 5 NW_CRC. Results: Fusobacterium nucleatum Escherichia coli more abundant...
Abstract The D-aspartate oxidase ( DDO ) gene encodes the enzyme responsible for catabolism of D-aspartate, an atypical amino acid enriched in mammalian brain and acting as endogenous NMDA receptor agonist. Considering key role receptors neurodevelopmental disorders, recent findings suggest a link between dysmetabolism schizophrenia. To clarify on development functioning, we used mouse model with constitutive Ddo overexpression depletion. In these mice, found reduced number BrdU-positive...
We previously identified a Neisseria flavescens strain in the duodenum of celiac disease (CD) patients that induced immune inflammation ex vivo duodenal mucosal explants and CaCo-2 cells. also found vesicular trafficking was delayed after CD-immunogenic P31-43 gliadin peptide-entered cells Lactobacillus paracasei CBA L74 (L. paracasei-CBA) supernatant reduced peptide entry. In this study, we evaluated if metabolism altered CD-N. flavescens-infected any alteration could be mitigated by...
Breast cancer is the most common neoplasia in females worldwide, about 10% being hereditary/familial and due to DNA variants cancer-predisposing genes, such as highly penetrant BRCA1/BRCA2 genes. However, their explain up 25% of suspected cases. The availability NGS methodologies has prompted research this field. With aim improve diagnostic sensitivity molecular testing, a custom designed panel 44 including also non-coding regions 5' 3' UTR regions, was set up. Here, are reported results...
Nutritional imbalance and metabolic alterations associated with maternal obesity during pregnancy predispose offspring to and/or type 2 diabetes, but the mechanisms underlying these effects are still obscure. In this context, we evaluated whether two main energy-producing pathways (glycolysis mitochondrial oxidative phosphorylation) impaired in thus contributing intrauterine alterations. Specifically, studied abnormalities life of newborns using stem cells isolated from amnion umbilical cord...
The aim of this study was to verify the reliability a next generation sequencing (NGS)-based method as strategy detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA obtained from peripheral blood sample provided by patient Southern Italy with early onset breast cancer and family history diverse cancers. molecular analysis performed NGS, sequence data were analyzed using two software packages. Comparative hybridization (CGH) array used confirmatory method. A...
The purpose of this paper is to present a clinical and laboratory study family, in which 12-year-old boy was examined assess his health status before starting competitive sports. A variety instrumental tests were used evaluate the heart its functions. Using Sanger sequencing (SS), we sequenced six related genes verify suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) hypothesized at cardiac assessment and, subsequently, by next-generation (NGS)-based multi-gene panel for more...
Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked neuromuscular disease due to pathogenic sequence variations in the dystrophin (DMD) gene, one of largest human genes. More than 70% DMD gene defects result from genomic rearrangements principally leading large deletions, while remaining are small nucleotide variants, including nonsense and missense insertions/deletions or splicing alterations. Considering size wide mutational spectrum, comprehensive molecular diagnosis DMD/BMD...
The isoforms of lycopene, carotenoids, and their derivatives including precursors vitamin A are compounds relevant for preventing chronic degenerative diseases such as cardiovascular cancer. Tomatoes a major source these compounds. However, cooking successive metabolic processes determine the bioavailability tomatoes in human nutrition. To evaluate effect acute/chronic procedures on lycopene carotene plasma, we measured blood levels serum antioxidant potential volunteers after meal...
About 10% of all breast cancers arise from hereditary mutations that increase the risk and ovarian cancers; about 25% these are associated with BRCA1 or BRCA2 genes. The identification BRCA1/BRCA2 can enable physicians to better tailor clinical management patients; initiate preventive measures in healthy carriers. pathophysiological significance newly identified variants poses challenges for genetic counseling. We characterized a new variant discovered cancer patient during BRCA1/2 screening...
BRCA1 and BRCA2 are the most mutated genes in breast cancer. We analyzed 48 cancer subjects using two methods that differ terms of number investigated strategy used (primers: Panel A - 12 vs probes: B genes). Both panels procedures identified "pathogenic" or "likely pathogenic" variants TP53, ATM, CHEK2 BARD1 besides BRCA2. other putatively pathogenic RNASEL RAD50. Identification than BRCA can be useful patient management. total 121 were distributed within correctly detected by both panels....
Indirect transmission of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has been investigated but it is still not completely understood. The present study aimed to compare the persistence and viability lineage B.1 omicron BA.1 subvariant in five daily-use materials evaluate role fomites as a possible source infection. Artificial contamination was performed first set materials, ethylene vinyl acetate (EVA), cardboard, polystyrene, aluminium, plastic. Further surfaces using...
Tumors often show intra-tumor heterogeneity because of genotypic differences between all the cells that compose it and derive from it. Recent studies have shown significant aspects neuroblastoma may affect diagnostic-therapeutic strategy. Therefore, we developed a laboratory protocol, based on combination advanced dielectrophoresis-based array technology next-generation sequencing to identify sort single individually carry out their copy number variants analysis. The aim was evaluate...
Psoriasis is a chronic multifactorial skin disorder with an immune basis. It characterized by patches of that are usually red, flaky and crusty, often release silvery scales. The appear predominantly on the elbows, knees, scalp lower back, although they may also other body areas severity be variable. majority patients (about 90%) present small known as “plaque psoriasis”. roles environmental triggers such stress, mechanical trauma streptococcal infections well described in psoriasis onset,...
Colorectal cancer is the third leading cause of death from neoplasia worldwide. Thanks to new screening programs, we are now seeing an increase in Early Onset ColoRectal Cancer (EOCRC) patients below age 50. Herein, report a clinical case woman affected by EOCRC. This illustrates importance genetic predisposition testing also tumor patients. Indeed, for our patient, used combined approach multiple molecular and cellular biology technologies that revealed presence interesting novel variant...