Search Results - "TINTO, Nadia"

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes by Mazzaccara, Cristina, Mirra, Bruno, Barretta, Ferdinando, Caiazza, Martina, Lombardo, Barbara, Scudiero, Olga, Tinto, Nadia, Limongelli, Giuseppe, Frisso, Giulia

“…Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases…”
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The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers by Barretta, Ferdinando, Mirra, Bruno, Monda, Emanuele, Caiazza, Martina, Lombardo, Barbara, Tinto, Nadia, Scudiero, Olga, Frisso, Giulia, Mazzaccara, Cristina

“…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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MicroRNA-449a overexpression, reduced NOTCH1 signals and scarce goblet cells characterize the small intestine of celiac patients by Capuano, Marina, Iaffaldano, Laura, Tinto, Nadia, Montanaro, Donatella, Capobianco, Valentina, Izzo, Valentina, Tucci, Francesca, Troncone, Giancarlo, Greco, Luigi, Sacchetti, Lucia

“…MiRNAs play a relevant role in regulating gene expression in a variety of physiological and pathological conditions including autoimmune disorders. MiRNAs are…”
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Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia by Iafusco, Fernanda, Meola, Serena, Pecoraro, Carmine, Mazzaccara, Cristina, Iafusco, Dario, Tinto, Nadia

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The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy by Maione, Giovanna, Iafusco, Fernanda, Zanfardino, Angela, Piscopo, Alessia, Ozen, Gulsum, Iafusco, Dario, Tinto, Nadia

“…In pediatric diabetology, a precise diagnosis is very important because it allows early and correct clinical management of the patient. Monogenic diabetes…”
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High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease by Tinto, Nadia, Cola, Arturo, Piscopo, Chiara, Capuano, Marina, Galatola, Martina, Greco, Luigi, Sacchetti, Lucia

“…Celiac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, a minority of CD patients are DQ2/DQ8-negative. To…”
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Cystic Fibrosis-Related Diabetes (CFRD): Overview of Associated Genetic Factors by Iafusco, Fernanda, Maione, Giovanna, Rosanio, Francesco Maria, Mozzillo, Enza, Franzese, Adriana, Tinto, Nadia

“…Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population and is caused by mutations in the CF transmembrane conductance…”
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An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment by Di Candia, Francesca, Di Iorio, Valentina, Tinto, Nadia, Bonfanti, Riccardo, Iovino, Claudio, Rosanio, Francesco Maria, Fedi, Ludovica, Iafusco, Fernanda, Arrigoni, Francesca, Malesci, Rita, Simonelli, Francesca, Rigamonti, Andrea, Franzese, Adriana, Mozzillo, Enza

“…Abstract Background Individuals with thiamine-responsive megaloblastic anemia (TRMA) mainly manifest macrocytic anemia, sensorineural deafness, ocular…”
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Generation of an iPSC line (UNINAi001-A) from a girl with neonatal-onset epilepsy and non-syndromic intellectual disability carrying the homozygous KCNQ3 p.PHE534ILEfs15 variant and of an iPSC line (UNINAi002-A) from a non-carrier, unaffected brother by Longobardi, Elena, Miceli, Francesco, Secondo, Agnese, Cicatiello, Rita, Izzo, Antonella, Tinto, Nadia, Moutton, Sebastien, Tran Mau-Them, Frédéric, Vitobello, Antonio, Taglialatela, Maurizio

“…Heterozygous variants in the KCNQ3 gene cause epileptic and/or developmental disorders of varying severity. Here we describe the generation of induced…”
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Analysis of Corneal Deformation in Paediatric Patients Affected by Maturity Onset Diabetes of the Young Type 2 by Lanza, Michele, Mozzillo, Enza, Boccia, Rosa, Fedi, Ludovica, Di Candia, Francesca, Tinto, Nadia, Melillo, Paolo, Simonelli, Francesca, Franzese, Adriana

“…To evaluate corneal deformation in Maturity Onset Diabetes of the Young type 2 (MODY2), paediatric subjects were analysed using a Scheimpflug-based device. The…”
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NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report by Iafusco, Fernanda, Maione, Giovanna, Mazzaccara, Cristina, Di Candia, Francesca, Mozzillo, Enza, Franzese, Adriana, Tinto, Nadia

“…Monogenic diabetes (MD) represents a heterogeneous group of disorders whose most frequent form is maturity-onset diabetes of the young (MODY). MD is…”
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The Association of Autoimmune Diseases with Type 1 Diabetes Mellitus in Children Depends Also by the Length of Partial Clinical Remission Phase (Honeymoon) by Tasar, Medine Aysin, Yilmaz, Arzu, Iafusco, Dario, Ozen, Gulsah, Iafusco, Fernanda, Tinto, Nadia, Casaburo, Francesca, Piscopo, Alessia, Confetto, Santino, Zanfardino, Angela, Ozen, Gulsum, Miraglia del Giudice, Emanuele

“…Type 1 diabetes mellitus (DM) is characterized by irreversible, autoimmune, pancreatic β-cell destruction. During the disease, some patients experience a phase…”
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Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy by Capuano, Marina, Garcia-Herrero, Carmen Maria, Tinto, Nadia, Carluccio, Carla, Capobianco, Valentina, Coto, Iolanda, Cola, Arturo, Iafusco, Dario, Franzese, Adriana, Zagari, Adriana, Navas, Maria Angeles, Sacchetti, Lucia

“…Type 2 Maturity Onset Diabetes of the Young (MODY2) is a monogenic autosomal disease characterized by a primary defect in insulin secretion and hyperglycemia…”
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Improving the estimation of celiac disease sibling risk by non-HLA genes by Izzo, Valentina, Pinelli, Michele, Tinto, Nadia, Esposito, Maria Valeria, Cola, Arturo, Sperandeo, Maria Pia, Tucci, Francesca, Cocozza, Sergio, Greco, Luigi, Sacchetti, Lucia

“…Celiac Disease (CD) is a polygenic trait, and HLA genes explain less than half of the genetic variation. Through large GWAs more than 40 associated non-HLA…”
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Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy by Tinto, Nadia, Zagari, Adriana, Capuano, Marina, De Simone, Alfonso, Capobianco, Valentina, Daniele, Gerardo, Giugliano, Michela, Spadaro, Raffaella, Franzese, Adriana, Sacchetti, Lucia

“…Maturity onset diabetes of the young type 2 (or GCK MODY) is a genetic form of diabetes mellitus provoked by mutations in the glucokinase gene (GCK). We…”
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Correction: MicroRNA-449a Overexpression, Reduced NOTCH1 Signals and Scarce Goblet Cells Characterize the Small Intestine of Celiac Patients by Capuano, Marina, Iaffaldano, Laura, Tinto, Nadia, Montanaro, Donatella, Capobianco, Valentina, Izzo, Valentina, Tucci, Francesca, Troncone, Giancarlo, Greco, Luigi, Sacchetti, Lucia

“…The correct Figure 1 can be viewed here: thumbnail Download: * PPT PowerPoint slide * PNG larger image * TIFF original image Figures Citation: Capuano M,…”
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Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012 by Delvecchio, Maurizio, Mozzillo, Enza, Salzano, Giuseppina, Iafusco, Dario, Frontino, Giulio, Patera, Patrizia I, Rabbone, Ivana, Cherubini, Valentino, Grasso, Valeria, Tinto, Nadia, Giglio, Sabrina, Contreas, Giovanna, Di Paola, Rosa, Salina, Alessandro, Cauvin, Vittoria, Tumini, Stefano, d’Annunzio, Giuseppe, Iughetti, Lorenzo, Mantovani, Vilma, Maltoni, Giulio, Toni, Sonia, Marigliano, Marco, Barbetti, Fabrizio

“…An etiologic diagnosis of diabetes can affect the therapeutic strategy and prognosis of chronic complications. The aim of the present study was to establish…”
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Dietary Thiols: A Potential Supporting Strategy against Oxidative Stress in Heart Failure and Muscular Damage during Sports Activity by Brancaccio, Mariarita, Mennitti, Cristina, Cesaro, Arturo, Fimiani, Fabio, Moscarella, Elisabetta, Caiazza, Martina, Gragnano, Felice, Ranieri, Annaluisa, D'Alicandro, Giovanni, Tinto, Nadia, Mazzaccara, Cristina, Lombardo, Barbara, Pero, Raffaela, Limongelli, Giuseppe, Frisso, Giulia, Calabrò, Paolo, Scudiero, Olga

“…Moderate exercise combined with proper nutrition are considered protective factors against cardiovascular disease and musculoskeletal disorders. However,…”
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A ceRNA Circuitry Involving the Long Noncoding RNA Klhl14-AS, Pax8, and Bcl2 Drives Thyroid Carcinogenesis by Credendino, Sara C, Bellone, Maria L, Lewin, Nicole, Amendola, Elena, Sanges, Remo, Basu, Swaraj, Sepe, Romina, Decaussin-Petrucci, Myriam, Tinto, Nadia, Fusco, Alfredo, De Felice, Mario, De Vita, Gabriella

“…is a long noncoding RNA expressed since early specification of thyroid bud and is the most enriched gene in the mouse thyroid primordium at E10.5. Here, we…”
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Null allele can bring to interpretative problems in a deficitary paternity case by Di Nunzio, Aldo, Tinto, Nadia, Iafusco, Fernanda, Zibetti, Angelica, Ricci, Pietrantonio, Di Nunzio, Ciro

“…An STR null allele is an allele at a microsatellite locus that fails to amplify. A possible cause is poor primer annealing due to nucleotide sequence…”
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