Search Results - "BARBETTI, Fabrizio"

Editorial: Personalized therapies for monogenic diabetes by Delvecchio, Maurizio, Liu, Ming, Rapini, Novella, Barbetti, Fabrizio

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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents by Greeley, Siri Atma W, Polak, Michel, Njølstad, Pål R, Barbetti, Fabrizio, Williams, Rachel, Castano, Luis, Raile, Klemens, Chi, Dung Vu, Habeb, Abdelhadi, Hattersley, Andrew T, Codner, Ethel

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β Cell Replacement after Gene Editing of a Neonatal Diabetes-Causing Mutation at the Insulin Locus by Ma, Shuangyu, Viola, Ryan, Sui, Lina, Cherubini, Valentino, Barbetti, Fabrizio, Egli, Dieter

“…Permanent neonatal diabetes mellitus (PNDM) can be caused by insulin mutations. We generated induced pluripotent stem cells from fibroblasts of a patient with…”
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The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance by Silvestri, Francesca, Tromba, Valeria, Schiaffini, Riccardo, Costantino, Francesco, Barbetti, Fabrizio, Prudente, Sabrina

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Editorial: Monogenic diabetes: from genetics and cell biology to clinical practice by Ding, Li, Barbetti, Fabrizio, Liu, Ming

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Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus by Prudente, Sabrina, Jungtrakoon, Prapaporn, Marucci, Antonella, Ludovico, Ornella, Buranasupkajorn, Patinut, Mazza, Tommaso, Hastings, Timothy, Milano, Teresa, Morini, Eleonora, Mercuri, Luana, Bailetti, Diego, Mendonca, Christine, Alberico, Federica, Basile, Giorgio, Romani, Marta, Miccinilli, Elide, Pizzuti, Antonio, Carella, Massimo, Barbetti, Fabrizio, Pascarella, Stefano, Marchetti, Piero, Trischitta, Vincenzo, Di Paola, Rosa, Doria, Alessandro

“…Diabetes mellitus is a highly heterogeneous disorder encompassing several distinct forms with different clinical manifestations including a wide spectrum of…”
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Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation by Iafusco, Dario, Zanfardino, Angela, Piscopo, Alessia, Casaburo, Francesca, De Nigris, Angelica, Alfiero, Salvatore, Russo, Giuseppina, Arenella, Mattia, Russo, Maria Cecilia, Barbetti, Fabrizio

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Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants by Mancioppi, Valentina, Pozzi, Erica, Zanetta, Sara, Missineo, Anna, Savastio, Silvia, Barbetti, Fabrizio, Mellone, Simona, Giordano, Mara, Rabbone, Ivana

“…Neonatal diabetes mellitus (NDM) is a rare genetic disease characterized by severe hyperglycemia requiring insulin therapy with onset mostly within the first 6…”
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Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus by Colombo, Carlo, Porzio, Ottavia, Liu, Ming, Massa, Ornella, Vasta, Mario, Salardi, Silvana, Beccaria, Luciano, Monciotti, Carla, Toni, Sonia, Pedersen, Oluf, Hansen, Torben, Federici, Luca, Pesavento, Roberta, Cadario, Francesco, Federici, Giorgio, Ghirri, Paolo, Arvan, Peter, Iafusco, Dario, Barbetti, Fabrizio

“…Permanent neonatal diabetes mellitus (PNDM) is a rare disorder usually presenting within 6 months of birth. Although several genes have been linked to this…”
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Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport by Liu, Ming, Haataja, Leena, Wright, Jordan, Wickramasinghe, Nalinda P, Hua, Qing-Xin, Phillips, Nelson F, Barbetti, Fabrizio, Weiss, Michael A, Arvan, Peter

“…Recently, a syndrome of Mutant INS-gene-induced Diabetes of Youth (MIDY, derived from one of 26 distinct mutations) has been identified as a cause of…”
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The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity by Mascolo, Elisa, Barile, Anna, Mecarelli, Lorenzo Stufera, Amoroso, Noemi, Merigliano, Chiara, Massimi, Arianna, Saggio, Isabella, Hansen, Torben, Tramonti, Angela, Di Salvo, Martino Luigi, Barbetti, Fabrizio, Contestabile, Roberto, Vernì, Fiammetta

“…In eukaryotes, pyridoxal kinase (PDXK) acts in vitamin B 6 salvage pathway to produce pyridoxal 5′-phosphate (PLP), the active form of the vitamin, which is…”
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Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients by Prudente, Sabrina, Andreozzi, Francesco, Mercuri, Luana, Alberico, Federica, Di Giamberardino, Alessandra, Mannino, Gaia Chiara, Ludovico, Ornella, Piscitelli, Pamela, Di Paola, Rosa, Morano, Susanna, Penno, Giuseppe, Carella, Massimo, De Cosmo, Salvatore, Trischitta, Vincenzo, Barbetti, Fabrizio

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Permanent neonatal diabetes-causing insulin mutations have dominant negative effects on beta cell identity by Zhang, Yuwei, Sui, Lina, Du, Qian, Haataja, Leena, Yin, Yishu, Viola, Ryan, Xu, Shuangyi, Nielsson, Christian Ulrik, Leibel, Rudolph L., Barbetti, Fabrizio, Arvan, Peter, Egli, Dieter

“…Heterozygous coding sequence mutations of the INS gene are a cause of permanent neonatal diabetes (PNDM), requiring insulin therapy similar to T1D. While the…”
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Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes by MING LIU, LARA-LEMUS, Roberto, SHAN, Shu-Ou, WRIGHT, Jordan, HAATAJA, Leena, BARBETTI, Fabrizio, HUAN GUO, LARKIN, Dennis, ARVAN, Peter

“…Recently, missense mutations upstream of preproinsulin's signal peptide (SP) cleavage site were reported to cause mutant INS gene-induced diabetes of youth…”
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Monogenic diabetes clinic (MDC): 3-year experience by Rapini, Novella, Patera, Patrizia I., Schiaffini, Riccardo, Ciampalini, Paolo, Pampanini, Valentina, Cristina, Matteoli M., Deodati, Annalisa, Bracaglia, Giorgia, Porzio, Ottavia, Ruta, Rosario, Novelli, Antonio, Mucciolo, Mafalda, Cianfarani, Stefano, Barbetti, Fabrizio

“…Aim In the pediatric diabetes clinic, patients with type 1 diabetes mellitus (T1D) account for more than 90% of cases, while monogenic forms represent about…”
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Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies by Bonfanti, Riccardo, Colombo, Carlo, Nocerino, Valentina, Massa, Ornella, Lampasona, Vito, Iafusco, Dario, Viscardi, Matteo, Chiumello, Giuseppe, Meschi, Franco, Barbetti, Fabrizio

“…OBJECTIVE:--Heterozygous, gain-of-function mutations of the insulin gene can cause permanent diabetes with onset ranging from the neonatal period through…”
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Correction to: Monogenic diabetes clinic (MDC): 3‑year experience by Rapini, Novella, Patera, Patrizia I., Schiaffini, Riccardo, Ciampalini, Paolo, Pampanini, Valentina, Cristina, Matteoli M., Deodati, Annalisa, Bracaglia, Giorgia, Porzio, Ottavia, Ruta, Rosario, Novelli, Antonio, Mucciolo, Mafalda, Cianfarani, Stefano, Barbetti, Fabrizio

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Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice by Brunetti, Antonio, Foti, Daniela, Chiefari, Eusebio, Fedele, Monica, Iuliano, Rodolfo, Brunetti, Leonardo, Paonessa, Francesco, Manfioletti, Guidalberto, Barbetti, Fabrizio, Brunetti, Arturo, Croce, Carlo M, Fusco, Alfredo

“…Type 2 diabetes mellitus is a widespread disease, affecting millions of people globally. Although genetics and environmental factors seem to have a role, the…”
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Reduced replication fork speed promotes pancreatic endocrine differentiation and controls graft size by Sui, Lina, Xin, Yurong, Du, Qian, Georgieva, Daniela, Diedenhofen, Giacomo, Haataja, Leena, Su, Qi, Zuccaro, Michael V, Kim, Jinrang, Fu, Jiayu, Xing, Yuan, He, Yi, Baum, Danielle, Goland, Robin S, Wang, Yong, Oberholzer, Jose, Barbetti, Fabrizio, Arvan, Peter, Kleiner, Sandra, Egli, Dieter

“…Limitations in cell proliferation are important for normal function of differentiated tissues and essential for the safety of cell replacement products made…”
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An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes by MASIA, Ricard, KOSTER, Joseph C, TUMINI, Stefano, CHIARELLI, Francesco, COLOMBO, Carlo, NICHOLS, Colin G, BARBETTI, Fabrizio

“…An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes Ricard…”
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