Search Results - "Resta, Nicoletta"

Next generation sequencing of SARS-CoV-2 genomes: challenges, applications and opportunities by Chiara, Matteo, D’Erchia, Anna Maria, Gissi, Carmela, Manzari, Caterina, Parisi, Antonio, Resta, Nicoletta, Zambelli, Federico, Picardi, Ernesto, Pavesi, Giulio, Horner, David S, Pesole, Graziano

“…Abstract Various next generation sequencing (NGS) based strategies have been successfully used in the recent past for tracing origins and understanding the…”
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Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome by Forde, Karina, Resta, Nicoletta, Ranieri, Carlotta, Rea, David, Kubassova, Olga, Hinton, Mark, Andrews, Katrina A, Semple, Robert, Irvine, Alan D, Dvorakova, Veronika

“…PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal…”
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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers by Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl

“…Purpose Juvenile polyposis syndrome (JPS) is a rare, autosomal-dominantly inherited cancer predisposition caused in approximately 50% of cases by pathogenic…”
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The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer by Grossi, Valentina, Forte, Giovanna, Sanese, Paola, Peserico, Alessia, Tezil, Tugsan, Lepore Signorile, Martina, Fasano, Candida, Lovaglio, Rosaura, Bagnulo, Rosanna, Loconte, Daria C, Susca, Francesco C, Resta, Nicoletta, Simone, Cristiano

“…Abstract The HSF and FOXO families of transcription factors play evolutionarily conserved roles in stress resistance and lifespan. In humans, the rs2802292…”
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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors by Loconte, Daria C, Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C, Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta

“…PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that affect only the terminal portion of a limb, such as type I macrodactyly, and…”
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Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumors occurring after surgery for necrotizing pancreatitis by Prete, Francesco, Rotelli, MariaTeresa, Stella, Alessandro, Calculli, Giovanna, Sgaramella, Lucia Ilaria, Amati, Antonio, Resta, Nicoletta, Testini, Mario, Gurrado, Angela

“…Sporadic intra-abdominal desmoid tumors are rare and known to potentially occur after trauma including previous surgery, although knowledge of the underlying…”
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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency by Martino, Stefania, D'Addabbo, Pietro, Turchiano, Antonella, Radio, Francesca Clementina, Bruselles, Alessandro, Cordeddu, Viviana, Mancini, Cecilia, Stella, Alessandro, Laforgia, Nicola, Capodiferro, Donatella, Simonetti, Simonetta, Bagnulo, Rosanna, Palumbo, Orazio, Marzano, Flaviana, Tabaku, Ornella, Garganese, Antonella, Stasi, Michele, Tartaglia, Marco, Pesole, Graziano, Resta, Nicoletta

“…Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid and amino acid oxidation with an incidence of 1 in…”
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A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment by Trevisan, Valentina, De Corso, Eugenio, Viscogliosi, Germana, Onesimo, Roberta, Cina, Alessandro, Panfili, Marco, Perri, Lucrezia, Agazzi, Cristiana, Giorgio, Valentina, Rigante, Donato, Vento, Giovanni, Papacci, Patrizia, Paradiso, Filomena Valentina, Silvaroli, Sara, Nanni, Lorenzo, Resta, Nicoletta, Castori, Marco, Galli, Jacopo, Paludetti, Gaetano, Zampino, Giuseppe, Leoni, Chiara

“…Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement…”
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Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97 by Thejer, Bashar M, Infantino, Vittoria, Santarsiero, Anna, Pappalardo, Ilaria, Abatematteo, Francesca S, Teakel, Sarah, Van Oosterum, Ashleigh, Mach, Robert H, Denora, Nunzio, Lee, Byung Chul, Resta, Nicoletta, Bagnulo, Rosanna, Niso, Mauro, Contino, Marialessandra, Montsch, Bianca, Heffeter, Petra, Abate, Carmen, Cahill, Michael A

“…Sigma-2 receptor (S2R) is a S2R ligand-binding site historically associated with reportedly 21.5 kDa proteins that have been linked to several diseases, such…”
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The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations by Resta, Nicoletta, Baldassarre, Maria Elisabetta, Panza, Raffaella, De Cosmo, Lucrezia, Varvara, Dora, Favia Guarnieri, Giovanna, Di Mauro, Antonio, Laforgia, Nicola, Capozza, Manuela

“…Congenital anomalies are significant causes of mortality and morbidity in infancy and childhood. Embryogenesis requires specific signaling pathways to regulate…”
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Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al by Resta, Nicoletta, Calabrese, Olga, Grossi, Valentina, Lugli, Licia, Simone, Cristiano, Ranieri, Carlotta, Piglionica, Marilidia, Lepore Signorile, Martina, Rossi, Katia, Carli, Diana, Mussa, Alessandro

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Hereditary Hemorrhagic Telangiectasia: Arteriovenous Malformations in Children by Giordano, Paola, MD, Lenato, Gennaro M., PhD, Suppressa, Patrizia, MD, Lastella, Patrizia, MD, Dicuonzo, Franca, MD, Chiumarulo, Luigi, MD, Sangerardi, Maria, MD, Piccarreta, Paola, MD, Valerio, Raffaella, MD, Scardapane, Arnaldo, MD, Marano, Giuseppe, MD, Resta, Nicoletta, PhD, Quaranta, Nicola, MD, Sabbà, Carlo, MD

“…Objective To evaluate the clinical features in a large cohort of pediatric patients with genetically confirmed hereditary hemorrhagic telangiectasia (HHT) and…”
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Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy by Forleo, Cinzia, Carmosino, Monica, Resta, Nicoletta, Rampazzo, Alessandra, Valecce, Rosanna, Sorrentino, Sandro, Iacoviello, Massimo, Pisani, Francesco, Procino, Giuseppe, Gerbino, Andrea, Scardapane, Arnaldo, Simone, Cristiano, Calore, Martina, Torretta, Silvia, Svelto, Maria, Favale, Stefano

“…Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right…”
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A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4 by Delvecchio, Maurizio, Ortolani, Federica, Palumbo, Orazio, Aloi, Concetta, Salina, Alessandro, Susca, Francesco Claudio, Palumbo, Pietro, Carella, Massimo, Resta, Nicoletta, Piccinno, Elvira

“…Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by…”
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A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study by Pierucci, Paola, Lenato, Gennaro M, Suppressa, Patrizia, Lastella, Patrizia, Triggiani, Vincenzo, Valerio, Raffaella, Comelli, Mario, Salvante, Daniela, Stella, Alessandro, Resta, Nicoletta, Logroscino, Giancarlo, Resta, Francesco, Sabbà, Carlo

“…The difficulty in establishing a timely correct diagnosis is a relevant matter of concern for several rare diseases. Many rare-disease-affected patients suffer…”
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Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome by Micaglio, Emanuele, Monasky, Michelle M, Resta, Nicoletta, Bagnulo, Rosanna, Ciconte, Giuseppe, Gianelli, Luigi, Locati, Emanuela T, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Anastasia, Luigi, Benedetti, Sara, Di Resta, Chiara, Ferrari, Maurizio, Pappone, Carlo

“…Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the gene are considered to be…”
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Corrigendum to ‘Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes’ [Gene Dis (10) (2023), 1187–1189] by Forte, Giovanna, Cariola, Filomena, Buonadonna, Antonia Lucia, Guglielmi, Anna Filomena, Manghisi, Andrea, De Marco, Katia, Grossi, Valentina, Fasano, Candida, Signorile, Martina Lepore, Sanese, Paola, Bagnulo, Rosanna, Resta, Nicoletta, Disciglio, Vittoria, Simone, Cristiano

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Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A by Mastrapasqua, Mariangela, Rossi, Roberta, De Cosmo, Lucrezia, Resta, Annalisa, Errede, Mariella, Bizzoca, Antonella, Zampatti, Stefania, Resta, Nicoletta, Giardina, Emiliano, Ruggieri, Maddalena, Virgintino, Daniela, Annese, Tiziana, Laforgia, Nicola, Girolamo, Francesco

“…The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for…”
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The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein by Laforgia, Nicola, De Cosmo, Lucrezia, Palumbo, Orazio, Ranieri, Carlotta, Sesta, Michela, Capodiferro, Donatella, Pantaleo, Antonino, Iapicca, Pierluigi, Lastella, Patrizia, Capozza, Manuela, Schettini, Federico, Bukvic, Nenad, Bagnulo, Rosanna, Resta, Nicoletta

“…Congenital myasthenic syndromes (CMSs) are caused by mutations in genes that encode proteins involved in the organization, maintenance, function, or…”
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Coinheritance of germline mutations in APC and MUTYH genes defines the clinical outcome of adenomatous polyposis syndromes by Forte, Giovanna, Cariola, Filomena, Buonadonna, Antonia Lucia, Guglielmi, Anna Filomena, Manghisi, Andrea, De Marco, Katia, Grossi, Valentina, Fasano, Candida, Lepore Signorile, Martina, Sanese, Paola, Bagnulo, Rosanna, Resta, Nicoletta, Disciglio, Vittoria, Simone, Cristiano

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