A5054209118- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Dialysis and Renal Disease Management
- DNA Repair Mechanisms
- Cystic Fibrosis Research Advances
- Hemoglobinopathies and Related Disorders
- Eosinophilic Esophagitis
- Mast cells and histamine
- Acute Lymphoblastic Leukemia research
- Blood Coagulation and Thrombosis Mechanisms
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Renal Diseases and Glomerulopathies
- Food Allergy and Anaphylaxis Research
- Ion channel regulation and function
- Advanced Glycation End Products research
- Porphyrin Metabolism and Disorders
- Metabolism and Genetic Disorders
- Cardiac electrophysiology and arrhythmias
- Diet, Metabolism, and Disease
- Epigenetics and DNA Methylation
- Muscle metabolism and nutrition
- Helicobacter pylori-related gastroenterology studies
- Cancer-related Molecular Pathways
- Chronic Kidney Disease and Diabetes
- Neonatal Health and Biochemistry
University of Foggia
2016-2025
Casa Sollievo della Sofferenza
1996-2018
Institute of Protein Biochemistry
2012
University of Naples Federico II
2007
University of Campania "Luigi Vanvitelli"
2007
Istituti di Ricovero e Cura a Carattere Scientifico
1997-2006
Medical Technologies (Czechia)
2006
Nuovo Ospedale San Giovanni di Dio
1997-2004
University of Siena
1995-1996
Although supraphysiological concentrations of urea are known to increase oxidative stress in cultured cells, it is generally thought that the elevated levels chronic renal failure patients have negligible toxicity. We previously demonstrated ROS intracellular protein modification by O-linked β-N-acetylglucosamine (O-GlcNAc), and others showed increased insulin signaling molecules O-GlcNAc reduces signal transduction. Because both resistance been observed with end-stage disease, we sought...
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Abstract Cystic fibrosis (CF), the most common life-threatening inherited disease in Caucasians, is due to mutations CF transmembrane conductance regulator (CFTR) gene and characterized by airways chronic inflammation pulmonary infections. The inflammatory response not secondary Indeed, several studies have shown an increased proinflammatory activity tissues, regardless of bacterial infections, because similarly observed CFTR-defective cell lines kept sterile conditions. Despite recent that...
Background and objectives Mutations in the TRPC6 gene have been recently identified as cause of late-onset autosomal-dominant focal segmental glomerulosclerosis (FSGS). To extend screening, we analyzed 33 Italian children with sporadic early-onset SRNS three families adult-onset FSGS. Design, setting, participants, & measurements mutation analysis was performed through PCR sequencing. The effects detected amino acid substitutions were by bioinformatics tools functional vitro studies....
The assumption underlying current diabetes treatment is that lowering the level of time-averaged glucose concentrations, measured as HbA1c, prevents microvascular complications. However, 89% variation in risk retinopathy, microalbuminuria, or albuminuria due to elements glycemia not captured by mean HbA1c values. We show transient exposure high activates a multicomponent feedback loop causes stable left shift concentration-reactive oxygen species (ROS) dose-response curve. Feedback...
Cystic fibrosis (CF) is a monogenic disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. characterized chronic bacterial lung infections and inflammation, we have previously reported that tissue transglutaminase (TG2), multifunctional enzyme critical to several diseases, constitutively up-regulated airways drives inflammation. Here, demonstrate generation of an oxidative stress induced CFTR-defective function leads protein inhibitor activated STAT...
Inherited arrhythmia syndromes include several different diseases, as well Brugada syndrome (BrS), long QT (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short (SQTS). They represent, together with arrhythmogenic right dysplasia/cardiomyopathy (ARVD/C), an important cause of sudden cardiac death in the young. Most are inherited autosomal dominant manner, genetic studies suggested.: to report spectrum variations clinical phenotype Italian cohort confirmed...
Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. The SERPING1 gene, encoding C1-INH, determines wide range clinical symptoms associated with CI-INH deficient HAE. C1-INH regulates enzymes involved bradykinin production, leading to increased vascular permeability and angioedema. most prevalent cause this condition either deficiency dysfunction C1-INH. A subset patients exhibits third form HAE...
Summary Background Different mutations of the angiopoietin‐1 gene ( ANGPT 1 ) have been associated with occurrence hereditary angioedema HAE ). Objective The purpose study is to clarify whether A119S variant plays its role via haploinsufficiency or a dominant negative effect. Methods ability affect endothelial barrier function was assessed by immunocytochemistry. Inter‐endothelial gap formation molecules primarily responsible for cell‐cell adhesions HUVEC s, vascular VE )‐cadherin and...
Crigler-Najjar syndrome types I and II (CN1 CN2) are usually inherited as autosomal recessive conditions characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity. CN2 presents intermediate levels hyperbilirubinaemia a result an incomplete deficiency UGT1A1 Here, we present analysis gene in 31 unrelated (CN) patients. This allowed us to...
Dystrophin (DMD) gene mutations are associated with skeletal muscle diseases such as Duchenne and Becker Muscular Dystrophy (BMD) X-linked dilated cardiomyopathy (XL-DCM). To investigate the molecular basis of DCM in a 37-year-old woman. Clinical genetic investigations were performed. Genetic testing was performed whole exome sequencing (WES) using Illumina platform. According to standard protocol, variant found by WES confirmed all available members family bi-directional capillary Sanger...
Abstract: Melatonin is endowed with a growth inhibitory effect in MCF‐7 breast cancer cells whose mechanism has been related to an antiestrogenic activity exerted by inhibition of binding the estradiol–estrogen receptor complex its DNA responsive element. Looking for downstream gene determinants this effect, we performed transcriptome profiling high‐density microarrays estrogen‐treated exposed or not melatonin. We found that cyclin D1 was one main downregulated genes Validation experiments...
Here, we report the aquaporin 2 (AQP2) mutational analysis of a patient with nephrogenic diabetes insipidus heterozygote due to two novel missense mutations. Direct sequencing DNA in male revealed that he was compound for mutations <i>AQP2</i> gene: thymine-to-adenine transversion at position 450 (c.450T>A) exon and guanine-to-thymine nucleotide 643 (c.643G>T) 4. The double heterozygous 450T>A 643G>T causes amino acid substitution D150E G215C. exons 4 AQP2 gene from...
Essential tremor (ET) is one of the more common movement disorders. Current diagnosis solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci specific chromosomes have been studied by linkage analysis, but causes essential are still unknown many patients. Genetic studies described association several genes with familial ET. However, they were found only distinct families, suggesting that some can private pathogenic variants.to characterize...