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4. The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Cftr Modulators and the Impact of a New Sweat Test Report Form

Author

Cirilli, Natalia, primary, Floridia, Giovanna, additional, Amato, Annalisa, additional, Padoan, Rita, additional, Censi, Federica, additional, Ferrari, Gianluca, additional, Raia, Valeria, additional, Castaldo, Giuseppe, additional, Capoluongo, Ettore, additional, Taruscio, Domenica, additional, and Salvatore, Marco, additional

Published
2024
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6. Undiagnosed Diseases: Italy-US Collaboration and International Efforts to Tackle Rare and Common Diseases Lacking a Diagnosis

Author

Taruscio, Domenica, Floridia, Giovanna, Salvatore, Marco, Groft, Stephen C., Gahl, William A., COHEN, IRUN R., Series editor, LAJTHA, ABEL, Series editor, LAMBRIS, JOHN D., Series editor, PAOLETTI, RODOLFO, Series editor, REZAEI, NIMA, Series editor, Posada de la Paz, Manuel, editor, Taruscio, Domenica, editor, and Groft, Stephen C., editor

Published
2017
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7. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Author

Salvatore, Marco, Polizzi, Agata, De Stefano, Maria Chiara, Floridia, Giovanna, Baldovino, Simone, Roccatello, Dario, Sciascia, Savino, Menegatti, Elisa, Remuzzi, Giuseppe, Daina, Erica, Iatropoulos, Paraskevas, Bembi, Bruno, Da Riol, Rosalia Maria, Ferlini, Alessandra, Neri, Marcella, Novelli, Giuseppe, Sangiuolo, Federica, Brancati, Francesco, and Taruscio, Domenica

Published
2020
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16. The Italian External Quality Assessment Program for Cystic Fibrosis Sweat Chloride Test: Does Active Participation Improve the Quality?

Author

Salvatore, Marco, primary, Amato, Annalisa, additional, Floridia, Giovanna, additional, Censi, Federica, additional, Ferrari, Gianluca, additional, Tosto, Fabrizio, additional, Padoan, Rita, additional, Raia, Valeria, additional, Cirilli, Natalia, additional, Castaldo, Giuseppe, additional, Capoluongo, Ettore, additional, Caruso, Ubaldo, additional, Corbetta, Carlo, additional, and Taruscio, Domenica, additional

Published
2020
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17. Abstracts from the 23rd Italian congress of Cystic Fibrosis and the 13th National congress of Cystic Fibrosis Italian Society

Author

Bevivino, Annamaria, Coiana, Alessandra, Fogazzi, Annalisa, Timelli, Fabiana, Signorini, Sandra, Lucarelli, Marco, Morelli, Patrizia, Padoan, Rita, Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Floridia, Giovanna, Fornaro, Gianna Puppo, Taruscio, Domenica, Salvatore, Marco, Seia, Manuela, Pierandrei, Silvia, Blaconà, Giovanna, Salvati, Valentina, Sette, Giovanni, Cimino, Giuseppe, Sangiuolo, Federica, Eramo, Adriana, Collura, Mirella, Parisi, Elisa, Ferlisi, Annalisa, Traverso, Gabriella, Bertolino, Marcella, Termini, Lisa, Orlando, Maria A., Di Girgenti, Caterina, Pavone, Valeria, Calamia, Maria A., Silvestro, Maria G., Piparo, Caterina Lo, Ficili, Francesca, Colombo, Carla, Tullis, Elizabeth, Davies, Jane C., Mckee, Charlotte, Desouza, Cynthia, Waltz, David, Savage, Jessica, Fisher, Marc, Shilling, Rebecca, Moskowitz, Sam, Robertson, Sarah, Tian, Simon, Taylor-Cousar, Jennifer L., Rowe, Steven M., Beccia, Elisa, Carbone, Annalucia, Favia, Maria, Castellani, Stefano, Angiolillo, Antonella, Casavola, Valeria, Conese, Massimo, Cesana, Bruno M., Falchetti, Diego, Battistini, Fiorella, Bignamini, Elisabetta, Braggion, Cesare, Cirilli, Natalia, Lucanto, Maria C., Lucidi, Vincenzina, Manca, Antonio, Raia, Valeria, Rotolo, Novella, Salvatore, Donatello, Volpi, Sonia, Nazzari, Erica, Guarise, Riccardo, Mileto, Palmiro, Garbarino, Francesca, Alicandro, Gianfranco, Battezzati, Alberto, Di Lullo, Antonella M., Comegna, Marika, Amato, Felice, Iacotucci, Paola, Carnovale, Vincenzo, Cantone, Elena, Iengo, Maurizio, Castaldo, Giuseppe, Orlando, Claudio, Casale, Alida, Sepe, Angela, De Gregorio, Fabiola, De Matteo, Antonia, Castaldo, Alice, Cimbalo, Chiara, Tosco, Antonella, Savi, Daniela, Mordenti, Michela, Bonci, Enea, Troiani, Patrizia, D’Alù, Viviana, Rossi, Paolo, Varchetta, Monica, Perelli, Tamara, Bertasi, Serenella, Palange, Paolo, Tardino, Lucia, Parisi, Giuseppe F., Portale, Anna, Franzonello, Chiara, Papale, Maria, Leonardi, Salvatore, Pennisi, Francesca, Bruno, Sabina M., Licciardello, Giulia, Ferraguti, Giampiero, Sterrantino, Manuela, Testino, Giancarlo, Buzzetti, Roberto, Surace, Cecilia, Sofia, Valentina M., Ullmann, Nicola, Novelli, Antonio, Angioni, Adriano, Liguori, Renato, Manzoni, Francesca, Di Palma, Chiara, Maietta, Sabrina, Zarrilli, Federica, Terlizzi, Vito, Alghisi, Federico, Tuccio, Giuseppe, Tradati, Valentina, di Stefano, Eliana, Dato, Patrizia, Sciarrabone, Maria G., Fondacaro, Carmela, Cresta, Federico, Baglioni, Valentina, Garuti, Silvia, Buffoni, Isabella, Landi, Francesca, Casciaro, Rosaria, Girelli, Daniela, Teri, Antonio, Sottotetti, Samantha, Biffi, Arianna, Vignati, Chiara, D’Accico, Monica, Maraschini, Anna, Arghittu, Milena, Pizzamiglio, Giovanna, Cariani, Elisa, Dolce, Daniela, Ravenni, Novella, Campana, Silvia, Camera, Erica, Castellani, Carlo, Taccetti, Giovanni, Calderone, Eleonora, Bandettini, Roberto, Innocenti, Chiara Degli, Castellani, Chiara, Masi, Eleonora, Cavicchi, Maria Chiara, Ferrari, Beatrice, Pezzotta, Ramona, Poli, Piercarlo, Messali, Serena, Timpano, Silvana, Scaltriti, Erika, Pongolini, Stefano, Fiorentini, Simona, Bresci, Silvia, Corsi, Lorenzo, Borchi, Beatrice, Cavallo, Annalisa, Bartalesi, Filippo, Pistolesi, Massimo, Bartoloni, Alessandro, Arcoleo, Federica, Pensabene, Tiziana, Bacci, Giovanni, Armanini, Federica, Fiscarelli, Ersilia V., Segata, Nicola, Mengoni, Alessio, Di Toppa, Maria V., Popa, Nicoleta, Felicetti, Francesco, Graziano, Sonia, Ciprandi, Riccardo, Pescini, Rita, Graffigna, Guendalina, Barello, Serena, Catastini, Paola, De Masi, Salvatore, Braggion, C., Guarnuto, Lucia, Di Liberti, Emanuela, Patti, Valentina, Castellazzi, Massimo Luca, Daccò, Valeria, Claut, Laura, Giuliari, Matteo, Vicentini, Luana, Tilotta, Fausto, Paciaroni, Antonella, Sala, Sabino Della, Guerzoni, Cristina, Andreatta, Elisa, Dinnella, Grazia, Granata, Orazia M., Aronica, Tommaso S., Crapisi, Mimì, Fogazza, Donatella, Alessi, Luca, Mulè, Flavia, Vitaliti, Marcello, Maresi, Mariarosaria, Catzola, Andrea, Salvadori, Laura, Colangelo, Carmela, Marsicovetere, Giovanni, D’Andria, Michele, Passarella, Domenica, Genovese, Carmela, Orlando, Mari A., Barrale, Stefania, Bonaccorso, Maria R., and D’Arpa, Annalisa

Subjects
lcsh:RJ1-570, lcsh:Pediatrics, Meeting Abstracts
Published
2018
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18. Transmission of a fully functional human neocentromere through three generations

Author

Tyler-Smith, Chris, Gimelli, Giorgio, Giglio, Sabrina, Floridia, Giovanna, Pandya, Arpita, Terzoli, Gianluigi, Warburton, Peter E., Earnshaw, William C., and Zuffardi, Orsetta

Subjects
DNA -- Research, Chromosome replication -- Research, Meiosis -- Research, Genetic research -- Research, Evolution -- Genetic aspects, Biological sciences
Abstract

A fully functional human neocentromere has been transmitted through three generations. Neocentromeres can be normally transmitted at meiosis. An unusual Y chromosome with a primary constriction inside the long-arm heterochromatin was discovered in amniocytes of a woman aged 38. Since it was also found in her husband and brother-in-law, it was present in the father. The Y chromosome seems to have been deleted for part of the alphoid DNA, likely silencing the normal centromere. Neocentromere activation might have taken place first and brought on inactivation of the normal centromere through partial deletion.

Published
1999

25. Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

Author

Taruscio, Domenica, Falbo, Vincenzo, Floridia, Giovanna, Salvatore, Marco, Pescucci, Chiara, Cantafora, Alfredo, Marongiu, Cesarina, Baroncini, Anna, Calzolari, Elisa, Cao, Antonio, Castaldo, Giuseppe, Bricarelli, Franca Dagna, Guanti, Ginevra, Nitsch, Lucio, Pignatti, Pier Franco, Rosatelli, Cristina, Salvatore, Francesco, and Zuffardi, Orsetta

Published
2004

26. Italian external quality assessment program for cystic fibrosis sweat chloride test: A 2015 and 2016 results comparison

Author

Salvatore, Marco, Floridia, Giovanna, Amato, Annalisa, Censi, Federica, De Stefano, Maria Chiara, Ferrari, Gianluca, Tosto, Fabrizio, Taruscio, Domenica, Capoluongo, Ettore, Caruso, Ubaldo, Castaldo, Giuseppe, Cirilli, Natalia, Corbetta, Carlo, Padoan, Rita, Raia, Valeria, Salvatore, Marco, Floridia, Giovanna, Amato, Annalisa, Censi, Federica, De Stefano, Maria Chiara, Ferrari, Gianluca, Tosto, Fabrizio, Taruscio, Domenica, Capoluongo, Ettore, Caruso, Ubaldo, Castaldo, Giuseppe, Cirilli, Natalia, Corbetta, Carlo, Padoan, Rita, and Raia, Valeria

Subjects
Sweat chloride test, Laboratory method, Public Health, Environmental and Occupational Health, Liver disease, Quality assurance control
Abstract

Background. Diagnostic testing in cystic fibrosis (CF) is based on the sweat chloride test (SCT) in the context of appropriate signs and symptoms of disease and results of the gene mutation analysis. In 2014 the Istituto Superiore di Sanità (ISS) established a pilot Italian external quality assessment program for CF sweat chloride test (Italian EQA-SCT). In 2015 this activity was recognized as a third party service carried out by the ISS. The aim of the paper is to compare 2015 and 2016 results and experiences. Methods. The scheme is prospective; enrollment is voluntary and the payment of a fee is required. Participants are registered and identified by a specific Identification Number (ID) through a dedicated web-facility. Assessment covers analysis, interpretation and reporting of results. Results. Thirteen and fifteen laboratories, participated in the 2015 and 2016 round respectively. Seven laboratories participated constantly from 2014, eleven participated both in 2015 and 2016 and four participated in 2016 for the first time. Variability in scores of chloride titration and heterogeneity in interpretation/reporting results were detected in both rounds. A total of 18 critical errors in chloride titration were made by eight different participants. Four laboratories made errors in chloride titration in 2015 but drastically improved their performance in 2016. In 2016 poor performance criteria were established and adopted. Conclusions. Even though results show variability in performance of laboratories, constant and mandatory participation may contribute to the improvement of performance and quality reached by laboratory.

Published
2017

27. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

Author

Brancati, Francesco, Camerota, Letizia, Colao, Emma, Vega-Warner, Virginia, Zhao, Xiangzhong, Zhang, Ruixiao, Bottillo, Irene, Castori, Marco, Caglioti, Alfredo, Sangiuolo, Federica, Novelli, Giuseppe, Perrotti, Nicola, Otto, Edgar A., Taruscio, Domenica, Pagano, MARCO SALVATORE, de Stefano, Maria Chiara, Censi, Federica, Floridia, Giovanna, Daina, Erica, Iatropoulos, Paraskevas, Ferlini, Alessandra, Neri, Marcella, Roccatello, Dario, Baldovino, Simone, Menegatti, Elisa, and Bembi, Bruno

Subjects
0301 basic medicine, Adult, Male, Codon, Nonsense, Heterozygote, Humans, Hypopituitarism, Membrane Proteins, Mutation, Missense, RNA Splicing, Retinitis Pigmentosa, Alleles, Phenotype, Genetics, Genetics (clinical), TMEM67, Biology, Compound heterozygosity, Ciliopathies, Article, NO, 03 medical and health sciences, Exon, symbols.namesake, Nephronophthisis, Retinitis pigmentosa, medicine, Missense mutation, LS2_6, Codon, Sanger sequencing, medicine.disease, 030104 developmental biology, Settore MED/03 - Genetica Medica, Nonsense, Mutation, symbols, Missense
Abstract

A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for X-linked or recessive mode of inheritance. Up to now, the underlying genetic basis of RHYNS syndrome remains unknown. Here we applied whole-exome sequencing in the originally described family with RHYNS to identify compound heterozygous variants in the ciliary gene TMEM67. Sanger sequencing confirmed a paternally inherited nonsense c.622A > T, p.(Arg208*) and a maternally inherited missense variant c.1289A > G, p.(Asp430Gly), which perturbs the correct splicing of exon 13. Overall, TMEM67 showed one of the widest clinical continuum observed in ciliopathies ranging from early lethality to adults with liver fibrosis. Our findings extend the spectrum of phenotypes/syndromes resulting from biallelic TMEM67 variants to now eight distinguishable clinical conditions including RHYNS syndrome.

Published
2018

28. Registro Italiano Fibrosi cistica Rapporto 2011-2014

Author

Giordani, Barbara, Amato, Annalisa, Majo, Fabio, Ferrari, Gianluca, Quattrucci, Serena, Minicucci, Laura, Padoan, Rita, Floridia, Giovanna, Fornaro, Gianna Puppo, Taruscio, Domenica, Salvatore, Marco, Albera, Carlo, Angiolillo, Antonella, Assael, Baroukh Maurice, Baldo, Ermanno, Battistini, Fiorella, Bena, Cristina, Bernardi, Maria Grazia, Bertasi, Serenella, Bignamini, Elisabetta, Bisogno, Arianna, Braggion, Cesare, Cannata, Loredana, Carnicella, Angela, Carnovale, Vincenzo, Ciciretti, Maria Antonietta, Cirilli, Natalia, Collura, Mirella, Colombo, Carla, Cucchiara, Salvatore, Di Sabatino, Maria, Di Stefano, Eliana, Ficili, Francesca, Francalanci, Michela, Gagliardini, Rolando, Iansa, Patrizia, Laezza, Caterina, La Rosa, Mario, Leonardi, Salvatore, Lucanto, Maria Cristina, Lucidi, Vincenzina, Macchiaroli, Anna Maria, Magazzù, Giuseppe, Manca, Antonio, Mascotto, Daniela, Mencarini, Valeria, Moretti, Paolo, Negri, Amalia, Palladino, Nicola, Pintani, Emily, Pisano, Giuseppina, Pisi, Giovanna, Pizzamiglio, Giovanna, Poli, Furio, Raia, Valeria, Ratclif, Luigi, Ros, Mirco, Rotolo, Novella, Salvatore, Donatello, Spaggiari, Cinzia, Tonelli, Tiziana, Tuccio, Giuseppe, and Zavataro, Lucia

Subjects
BMI, CF referral centre, Registry, CF support centre, Epidemiology, [delta]F508, Environmental and Occupational Health, Cystic fibrosis, FEV, Public Health, Environmental and Occupational Health, Public Health
Published
2018

32. Meeting Patients' Right to the Correct Diagnosis : Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

Author

Gainotti, Sabina, Mascalzoni, Deborah, Bros-Facer, Virginie, Petrini, Carlo, Floridia, Giovanna, Roos, Marco, Salvatore, Marco, Taruscio, Domenica, Gainotti, Sabina, Mascalzoni, Deborah, Bros-Facer, Virginie, Petrini, Carlo, Floridia, Giovanna, Roos, Marco, Salvatore, Marco, and Taruscio, Domenica

Abstract

The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an odyssey and, for some, a diagnosis may remain frustratingly elusive. The International Rare Disease Research Consortium proposed, as ultimate goal for 2017-2027, to enable all people with a suspected RD to be diagnosed within one year of presentation, if the disorder is known. Subsequently, unsolved cases would enter a globally coordinated diagnostic and research pipeline. In-depth analysis of the genotype through next generation sequencing, together with a standardized in-depth phenotype description and sophisticated high-throughput approaches, have been applied as diagnostic tools to increase the chance of a timely and accurate diagnosis. The success of this approach is evident in the Orphanet database. From 2010 to March 2017 over 600 new RDs and roughly 3600 linked genes have been described and identified. However, combination of -omics and phenotype data, as well as international sharing of this information, has raised ethical concerns. Values to be assessed include not only patient autonomy but also family implications, beneficence, non-maleficence, justice, solidarity and reciprocity, which must be respected and promoted and, at the same time, balanced among each other. In this work we suggest that, to maximize patients' involvement in the search for a diagnosis and identification of new causative genes, undiagnosed patients should have the possibility to: (1) actively participate in the description of their phenotype; (2) choose the level of visibility of their profile in matchmaking databases; (3) express their preferences regarding return of new findings, in particular which level of Variant of Unknown Significance (VUS) significance should be considered relevant to them. The quality of the relationship between individual patients and physicians, and between the patient community and the scientific

Published
2018
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34. Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring

Author

Genetica Sectie Genoomdiagnostiek, Brain, Hochstenbach, Ron, Slunga-Tallberg, Anna, Devlin, Caroline, Floridia, Giovanna, de Alba, Marta Rodríguez, Bhola, Shama, Rack, Katrina, Hastings, Ros, Genetica Sectie Genoomdiagnostiek, Brain, Hochstenbach, Ron, Slunga-Tallberg, Anna, Devlin, Caroline, Floridia, Giovanna, de Alba, Marta Rodríguez, Bhola, Shama, Rack, Katrina, and Hastings, Ros

Published
2017

35. The Italian National Centre for Rare Diseases: where research and public health translate into action

Author

Taruscio, Domenica, Agresta, Linda, Amato, Annalisa, Bernardo, Giuseppe, Bernardo, Luana, Braguti, Francesca, Carbone, Pietro, Carta, Claudio, Ceccarini, Marina, Censi, Federica, Coppola, Simona, Crialese, Patrizia, De Santis, Marta, Diemoz, Stefano, Donati, Carlo, Gainotti, Sabina, Ferrari, Gianluca, Floridia, Giovanna, Frank, Claudio, Frazzica, Rosa Giuseppa, Gentile, Amalia E., Granata, Orietta, Kodra, Yllka, Latrofa, Manuela, Laricchiuta, Paola, Magrelli, Armando, Morciano, Cristina, Polizzi, Agata, Razeto, Stefania, Salvatore, Marco, Sanseverino, Antonella, Savini, Daniele, Torreri, Paola, Tosto, Fabrizio, Villani, Flavia, Vincenti, Giorgio, and Vittozzi, Luciano

Subjects
Government Programs, Rare Diseases, Italy, Regional, National and European actions in the field of Rare Diseases, Government, Health Policy, Humans
Published
2014

36. The Italian pilot external quality assessment program for cystic fibrosis sweat test

Author

Recupero, Salvatore Marco, Floridia, Giovanna, Amato, Annalisa, Censi, Federica, Carta, Claudio, de Stefano, Maria Chiara, Ferrari, Gianluca, Tosto, Fabrizio, Capoluongo, Ettore Domenico, Caruso, Ubaldo, Castaldo, Giuseppe, Cirilli, Natalia, Corbetta, Carlo, Padoan, Rita, Raia, Valeria, Taruscio, Domenica, Capoluongo, Ettore Domenico (ORCID:0000-0001-9872-0572), Recupero, Salvatore Marco, Floridia, Giovanna, Amato, Annalisa, Censi, Federica, Carta, Claudio, de Stefano, Maria Chiara, Ferrari, Gianluca, Tosto, Fabrizio, Capoluongo, Ettore Domenico, Caruso, Ubaldo, Castaldo, Giuseppe, Cirilli, Natalia, Corbetta, Carlo, Padoan, Rita, Raia, Valeria, Taruscio, Domenica, and Capoluongo, Ettore Domenico (ORCID:0000-0001-9872-0572)

Abstract

Objectives: Sweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis. In 2014 the Istituto Superiore di Sanita established the Italian pilot external quality assessment program for CF sweat test (IEQA-ST). Design and methods: Ten laboratories, included among the 33 Italian CF Referral Centers, were selected and enrolled on the basis of their attitude to perform sweat test (ST) analysis by using methods recommended by the Italian Guidelines. They received three different sweat-like samples (normal, borderline and pathologic chloride concentration), with mock clinical indications, for analysis according to routine procedures. Assessment, performed by a panel of experts, covered analytical performance, interpretation and reporting of results; categories of "poor" and "satisfactory" performance were not defined. All data were managed through a web utility. Results: The program identified important areas of interest and, in some case, of concern. It is important to underline that results are referred to a small proportion, i.e. about 30%, of Italian laboratories performing CF ST in the context of the Referral Centers. Conclusions: Data collected highlight the importance of participation in EQA programs as it may improve laboratory/clinical performance; our study represents a model for the setting up of a large-scale EQA scheme for ST. (C) 2016 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Published
2016

38. The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

Author

de Stefano, Maria Chiara, Floridia, Giovanna, Censi, Federica, Tosto, Fabrizio, Salvatore, Marco, Civolani, Alessandro, Crescenzi, Barbara, Giardino, Daniela, Lenzini, Elisabetta, Lisi, Ermanna, Lonardo, Fortunato, Mancini, Marco, Novelli, Antonio, Piombo, Giuseppe, Stioui, Sabine, and Taruscio, Domenica

Published
2018
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39. The Italian External Quality Assessment Program for CF Sweat Chloride Test: Results of the 2015 Round

Author

Salvatore, Marco, primary, Floridia, Giovanna, additional, Amato, Annalisa, additional, Censi, Federica, additional, Carta, Claudio, additional, Stefano, Maria Chiara de, additional, Ferrari, Gianluca, additional, Tosto, Fabrizio, additional, Capoluongo, Ettore, additional, Caruso, Ubaldo, additional, Castaldo, Giuseppe, additional, Cirilli, Natalia, additional, Corbetta, Carlo, additional, Padoan, Rita, additional, Raia, Valeria, additional, and Taruscio, Domenica, additional

Published
2016
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40. Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence

Author

Falcone, Germana, primary, Mazzola, Alessia, additional, Michelini, Flavia, additional, Bossi, Gianluca, additional, Censi, Federica, additional, Biferi, Maria G., additional, Minghetti, Luisa, additional, Floridia, Giovanna, additional, Federico, Maurizio, additional, Musio, Antonio, additional, and Crescenzi, Marco, additional

Published
2012
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47. Cytogenetic analysis of human cells reveals specific patterns of DNA damage in replicative and oncogene-induced senescence.

Author

Falcone, Germana, Mazzola, Alessia, Michelini, Flavia, Bossi, Gianluca, Censi, Federica, Biferi, Maria G., Minghetti, Luisa, Floridia, Giovanna, Federico, Maurizio, Musio, Antonio, and Crescenzi, Marco

Subjects
CYTOGENETICS, DNA damage, ONCOGENES, CELLULAR aging, TELOMERASE, FIBROBLASTS, CELL cycle
Abstract

Senescence is thought to be triggered by DNA damage, usually indirectly assessed as activation of the DNA damage response (DDR), but direct surveys of genetic damage are lacking. Here, we mitotically reactivate senescent human fibroblasts to evaluate their cytogenetic damage. We show that replicative senescence is generally characterized by telomeric fusions. However, both telomeric and extratelomeric aberrations are prevented by hTERT, indicating that even non-telomeric damage descends from the lack of telomerase. Compared with replicative senescent cells, oncogene-induced senescent fibroblasts display significantly higher levels of DNA damage, depicting how oncogene activation can catalyze the generation of further, potentially tumorigenic, genetic damage. [ABSTRACT FROM AUTHOR]

Published
2013
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49. Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

Author

Salvadori, Susanna, Deiana, AnnaMaria, Elisabetta, Coluccia, Floridia, Giovanna, Rossi, Elena, and Zuffardi, Orsetta

Abstract

The distribution of (TTAGGG)n telomeric repeats was studied in chromosomes of two Atlantic eels,Anguilla anguilla andA. rostrata. We found that these sequences hybridize to all the telomeres but also to the entire nucleolar organizer region (NOR) localized in both species at the short arm of chromosome 8. This was considered to be due to the interspersion of telomeric sequences within the NOR ones. Whatever the significance of this interspersion may be, it seems to be limited toA. anguilla andA. rostrata since inMuraena helena (family muraenidae), which also belongs to the Anguilliformes, no telomeric hybridization signals were found along the NOR regions.

Published
1995
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