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24 results on '"Chiesa, Nicoletta"'

5. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

Author

Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, and Ferrero, Giovanni Battista

Published
2012
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9. SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

Author

Porta, Francesco, Siri, Barbara, Chiesa, Nicoletta, Ricci, Federica, Nika, Lulash, Sciortino, Paola, and Spada, Marco

Abstract

Biallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A. The natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level. Non-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features. [ABSTRACT FROM AUTHOR]

Published
2021
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10. Incidence of Beckwith-Wiedemann syndrome

Author

Molinatto, Cristina, Mussa, Alessandro, De Crescenzo, N, Chiesa, Nicoletta, Baldassarre, Giuseppina, Selicorni, A, Russo, S, Riccio, A, Cirillo, Margherita, and Ferrero, Giovanni Battista

Published
2012

11. Convergent Mutations and Kinase Fusions Lead to Oncogenic STAT3 Activation in Anaplastic Large Cell Lymphoma

Author

Crescenzo, Ramona, primary, Abate, Francesco, additional, Lasorsa, Elena, additional, Tabbo’, Fabrizio, additional, Gaudiano, Marcello, additional, Chiesa, Nicoletta, additional, Di Giacomo, Filomena, additional, Spaccarotella, Elisa, additional, Barbarossa, Luigi, additional, Ercole, Elisabetta, additional, Todaro, Maria, additional, Boi, Michela, additional, Acquaviva, Andrea, additional, Ficarra, Elisa, additional, Novero, Domenico, additional, Rinaldi, Andrea, additional, Tousseyn, Thomas, additional, Rosenwald, Andreas, additional, Kenner, Lukas, additional, Cerroni, Lorenzo, additional, Tzankov, Alexander, additional, Ponzoni, Maurilio, additional, Paulli, Marco, additional, Weisenburger, Dennis, additional, Chan, Wing C., additional, Iqbal, Javeed, additional, Piris, Miguel A., additional, Zamo’, Alberto, additional, Ciardullo, Carmela, additional, Rossi, Davide, additional, Gaidano, Gianluca, additional, Pileri, Stefano, additional, Tiacci, Enrico, additional, Falini, Brunangelo, additional, Shultz, Leonard D., additional, Mevellec, Laurence, additional, Vialard, Jorge E., additional, Piva, Roberto, additional, Bertoni, Francesco, additional, Rabadan, Raul, additional, and Inghirami, Giorgio, additional

Published
2015
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12. Analisi del profilo di trascrizione genetica nella sindrome di Noonan

Author

Picco, Gabriele, Cantarella, D, Baldassarre, Giuseppina, Marinosci, Annalisa, Dotta, Anna, Isella, Claudio, Crescenzo, N, Timeus, F, Chiesa, Nicoletta, Merla, G, Mazzanti, L, Rossi, Claudia, Zampino, G, Tartaglia, M, Cirillo, Margherita, Medico, Enzo, and Ferrero, Giovanni Battista

Published
2010

17. Convergent Mutations and New Kinase Fusions Lead to Oncogenic STAT3 Activation in Anaplastic Large Cell Lymphoma

Author

Crescenzo, Ramona, primary, Abate, Francesco, additional, Lasorsa, Elena, additional, Tabbo', Fabrizio, additional, Gaudiano, Marcello, additional, Chiesa, Nicoletta, additional, Di Giacomo, Filomena, additional, Spaccarotella, Elisa, additional, Barbarossa, Luigi, additional, Todaro, Maria, additional, Boi, Michela, additional, Tousseyn, Thomas, additional, Rosenwald, Andreas, additional, Kenner, Lukas, additional, Rossi, Davide, additional, Mevellec, Laurence, additional, Vialard, Jorge, additional, Bertoni, Francesco, additional, Rabadan, Raul, additional, and Inghirami, Giorgio, additional

Published
2014
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18. Nephrological findings and genotype–phenotype correlation in Beckwith–Wiedemann syndrome

Author

Mussa, Alessandro, primary, Peruzzi, Licia, additional, Chiesa, Nicoletta, additional, De Crescenzo, Agostina, additional, Russo, Silvia, additional, Melis, Daniela, additional, Tarani, Luigi, additional, Baldassarre, Giuseppina, additional, Larizza, Lidia, additional, Riccio, Andrea, additional, Silengo, Margherita, additional, and Ferrero, Giovanni Battista, additional

Published
2011
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19. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

Author

Chiesa, Nicoletta, primary, De Crescenzo, Agostina, additional, Mishra, Kankadeb, additional, Perone, Lucia, additional, Carella, Massimo, additional, Palumbo, Orazio, additional, Mussa, Alessandro, additional, Sparago, Angela, additional, Cerrato, Flavia, additional, Russo, Silvia, additional, Lapi, Elisabetta, additional, Cubellis, Maria Vittoria, additional, Kanduri, Chandrasekhar, additional, Cirillo Silengo, Margherita, additional, Riccio, Andrea, additional, and Ferrero, Giovanni Battista, additional

Published
2011
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22. A Novel Role for HERG K+Channels: Spike‐Frequency Adaptation

Author

Chiesa, Nicoletta, Rosati, Barbara, Arcangeli, Annarosa, Olivotto, Massimo, and Wanke, Enzo

Abstract

1The regular firing of a Hodgkin‐Huxley neurone endowed with fast Na+and delayed K+channels can be converted into adapting firing by appending HERG (human eag‐related gene) channels.2The computer model predictions were verified by studying the firing properties of F‐11 DRG neurone x neuroblastoma hybrid cells induced to differentiate by long‐term exposure to retinoic acid. These cells, which express HERG currents (IHERG), show clear spike‐frequency adaptation of their firing when current clamped with long depolarizations.3In agreement with the prediction, the selective blocking of IHERGby class III antiarrhythmic drugs always led to the disappearance of the spike‐frequency adaptation, and the conversion of adapting firing to regular firing.4It is proposed that, in addition to their role in the repolarization of the heart action potential, HERG channels may sustain a process of spike‐frequency adaptation, and hence contribute to the control of burst duration in a way that is similar to that of the K+currents, IAHP, ICand IM. In addition to the known cardiac arrhythmia syndrome (LQT2), genetic mutations or an altered HERG expression could lead to continuous hyperexcitable states sustained by the inability of nerve or endocrine cells to accommodate to repetitive stimuli. This might help in clarifying the pathogenesis of still undefined idiopathic familial epilepsies.

Published
1997
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23. Convergent Mutations and Kinase Fusions Lead to Oncogenic STAT3 Activation in Anaplastic Large Cell Lymphoma

Author

Lorenzo Cerroni, Laurence Mevellec, Andreas Rosenwald, Giorgio Inghirami, Luigi Barbarossa, Elena Lasorsa, Enrico Tiacci, Miguel A. Piris, Francesco Bertoni, Davide Rossi, Elisabetta Ercole, Nicoletta Chiesa, Filomena Di Giacomo, Domenico Novero, Maria Todaro, Alberto Zamò, Jorge Vialard, Ramona Crescenzo, Alexander Tzankov, Andrea Rinaldi, Lukas Kenner, Leonard D. Shultz, Francesco Abate, Thomas Tousseyn, Raul Rabadan, Javeed Iqbal, Dennis D. Weisenburger, Brunangelo Falini, Carmela Ciardullo, Elisa Ficarra, Wing C. Chan, Gianluca Gaidano, Elisa Spaccarotella, Andrea Acquaviva, Roberto Piva, Stefano Pileri, Fabrizio Tabbò, Marcello Gaudiano, Michela Boi, Marco Paulli, Maurilio Ponzoni, Crescenzo, Ramona, Abate, Francesco, Lasorsa, Elena, Tabbo', Fabrizio, Gaudiano, Marcello, Chiesa, Nicoletta, Di Giacomo, Filomena, Spaccarotella, Elisa, Barbarossa, Luigi, Ercole, Elisabetta, Todaro, Maria, Boi, Michela, Acquaviva, Andrea, Ficarra, Elisa, Novero, Domenico, Rinaldi, Andrea, Tousseyn, Thoma, Rosenwald, Andrea, Kenner, Luka, Cerroni, Lorenzo, Tzankov, Alexander, Ponzoni, Maurilio, Paulli, Marco, Weisenburger, Denni, Chan, Wing C, Iqbal, Javeed, Piris, Miguel A, Zamo', Alberto, Ciardullo, Carmela, Rossi, Davide, Gaidano, Gianluca, Pileri, Stefano, Tiacci, Enrico, Falini, Brunangelo, Shultz, Leonard D, Mevellec, Laurence, Vialard, Jorge E, Piva, Roberto, Bertoni, Francesco, Rabadan, Raul, Inghirami, Giorgio, Ramona Crescenzo, Francesco Abate, Elena Lasorsa, Fabrizio Tabbo’, Marcello Gaudiano, Nicoletta Chiesa, Filomena Di Giacomo, Elisa Spaccarotella, Luigi Barbarossa, Elisabetta Ercole, Maria Todaro, Michela Boi, ACQUAVIVA, ANDREA, FICARRA, ELISA, Domenico Novero, Andrea Rinaldi, Thomas Tousseyn, Andreas Rosenwald, Lukas Kenner, Lorenzo Cerroni, Alexander Tzankov, Maurilio Ponzoni, Marco Paulli, Dennis Weisenburger, Wing C. Chan, Javeed Iqbal, Miguel A. Piri, Alberto Zamo’, Carmela Ciardullo, Davide Rossi, Gianluca Gaidano, Stefano Pileri, Enrico Tiacci, Brunangelo Falini, Leonard D. Shultz, Laurence Mevellec, Jorge E. Vialard, Roberto Piva, Francesco Bertoni, Raul Rabadan, and Giorgio Inghirami

Subjects
Cancer Research, Lymphoma, Somatic cell, massive sequencing, Activating Transcription Factor 3, Animals, Cell Line, Tumor, HEK293 Cells, Humans, Janus Kinase 1, Lymphoma, Large-Cell, Anaplastic, Mice, Mutant Chimeric Proteins, NF-kappa B, Phosphorylation, Proto-Oncogene Proteins, Receptor Protein-Tyrosine Kinases, STAT3 Transcription Factor, Signal Transduction, TYK2 Kinase, Gene Expression Regulation, Neoplastic, Cell Biology, Oncology, Medicine (all), Anaplastic Large Cell Lymphoma, JAK/STAT3 pathway, Oncogenic STAT3 Activation, gene fusions, 0302 clinical medicine, hemic and lymphatic diseases, RNA-Seq data, anaplastic large cell lymphoma (ALCL), driver genetic alterations, somatic point mutations, copy number alterations, Anaplastic, Anaplastic lymphoma kinase, Anaplastic large-cell lymphoma, 0303 health sciences, Tumor, Janus kinase 1, Kinase, Large-Cell, 3. Good health, driver genetic alteration, somatic point mutation, Tyrosine kinase 2, 030220 oncology & carcinogenesis, Tyrosine kinase, Biology, Article, Cell Line, 03 medical and health sciences, ROS1, medicine, 030304 developmental biology, Stat3 activation, Neoplastic, Point mutation, gene fusion, medicine.disease, Molecular biology, Gene Expression Regulation, Cancer cell, Cancer research
Abstract

JAK/STAT3 signaling pathway is often deregulated in hematopoietic disorders including peripheral T-cell lymphoma. We describe two novel mechanisms leading to the constitutive activation of STAT3 in ALK- ALCL. Oncogenic JAK1 or STAT3 mutations are associated to hyperactive pSTAT3 that regulated canonical STAT3 and ATF3 genes. Moreover, synergizing JAK1 and STAT3 mutants sustain the neoplastic growth, which can be efficiently controlled in vitro and in an ALCL patient derived tumorgraft model by JAK1/2 inhibitors. We have discovered that novel chimera, displaying concomitant transcriptional and kinase activities, are power oncogenes capable to sustain via STAT3 the ALCL phenotype and can be uniquely neutralized by a novel ROS1 inhibitor. The pharmacological inhibition of JAK/STAT3 represents a novel strategy for the treatment of molecular stratified ALCL.

Published
2015

24. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair

Author

Cesare Rossi, Elisabetta Flex, Nicoletta Chiesa, Claudio Isella, Giovanni Battista Ferrero, Giuseppe Merla, Davide Corà, Fabio Timeus, Margherita Silengo, Nicoletta Crescenzio, Marco Tartaglia, Giuseppe Zampino, Daniela Cantarella, Laura Mazzanti, Giuseppina Baldassarre, Enzo Medico, Gabriele Picco, Ferrero, Giovanni Battista, Picco, Gabriele, Baldassarre, Giuseppina, Flex, Elisabetta, Isella, Claudio, Cantarella, Daniela, Corà, Davide, Chiesa, Nicoletta, Crescenzio, Nicoletta, Timeus, Fabio, Merla, Giuseppe, Mazzanti, Laura, Zampino, Giuseppe, Rossi, Cesare, Silengo, Margherita, Tartaglia, Marco, and Medico, Enzo

Subjects
Male, Transcription, Genetic, Mononuclear, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Biology, PTPN11, Non-Receptor Type 11, Germline mutation, Genetic, Granuloma, Giant Cell, Leukocytes, Genetics, medicine, Humans, SOS1, Noonan syndrome, RASopathies, SHOC2, Gene, Genetics (clinical), Research Articles, Genetic heterogeneity, Gene Expression Profiling, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, medicine.disease, Gene expression profiling, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Intracellular Signaling Peptides and Protein, Case-Control Studies, Mutation, Leukocytes, Mononuclear, ras Proteins, Female, Protein Tyrosine Phosphatase, Signal transduction, Case-Control Studie, SOS1 Protein, Transcription, Human, Signal Transduction
Abstract

Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellular biochemical and transcriptional responses controlling cell proliferation, differentiation, metabolism, and senescence. To explore the transcriptional consequences of NS-causing mutations, we performed global mRNA expression profiling on peripheral blood mononuclear cells obtained from 23 NS patients carrying heterozygous mutations in PTPN11 or SOS1. Gene expression profiling was also resolved in five subjects with Noonan-like syndrome with loose anagen hair (NS/LAH), a condition clinically related to NS and caused by an invariant mutation in SHOC2. Robust transcriptional signatures were found to specifically discriminate each of the three mutation groups from 21 age- and sex-matched controls. Despite the only partial overlap in terms of gene composition, the three signatures showed a notable concordance in terms of biological processes and regulatory circuits affected. These data establish expression profiling of peripheral blood mononuclear cells as a powerful tool to appreciate differential perturbations driven by germline mutations of transducers involved in RAS signaling and to dissect molecular mechanisms underlying NS and other RASopathies. Hum Mutat 33:703–709, 2012. © 2012 Wiley Periodicals, Inc.

Published
2011

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