15 results on '"Selvatici, Rita"'
Search Results
2. Gene expression changes in progression of cervical neoplasia revealed by microarray analysis of cervical neoplastic keratinocytes
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Rotondo, John Charles, Bosi, Silvia, Bassi, C, Ferracin, M, Lanza, Giovanni, Gafa', Roberta, Magri, Eros, Selvatici, Rita, Torresani, S, Marci, Roberto, Garutti, P, Negrini, Massimo, Tognon, Mauro, Martini, Fernanda, Rotondo, John Charle, Bosi, Silvia, Bassi, Cristian, Ferracin, Manuela, Lanza, Giovanni, Gafà, Roberta, Magri, Ero, Selvatici, Rita, Torresani, Stefania, Marci, Roberto, Garutti, Paola, Negrini, Massimo, Tognon, Mauro, and Martini, Fernanda
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Keratinocytes ,Uterine Cervical Neoplasm ,Physiology ,viruses ,Clinical Biochemistry ,Uterine Cervical Neoplasms ,NO ,Biomarkers, Tumor ,Humans ,Cervical Intraepithelial Neoplasia ,neoplasms ,Papillomavirus Infection ,Phosphoglycerate Dehydrogenase ,Human papillomavirus 16 ,Medicine (all) ,Papillomavirus Infections ,virus diseases ,Cell Biology ,Uterine Cervical Dysplasia ,female genital diseases and pregnancy complications ,Gene Expression Regulation, Neoplastic ,Cell Transformation, Neoplastic ,Tissue Array Analysis ,tumor marker ,Carcinoma, Squamous Cell ,Disease Progression ,Female ,Tissue Array Analysi ,Keratinocyte ,phosphoglycerate dehydrogenase, phosphoglycerate dehydrogenase, tumor marker ,Human - Abstract
To evaluate the gene expression changes involved in neoplastic progression of cervical intraepithelial neoplasia. Using microarray analysis, large-scale gene expression profile was carried out on HPV16-CIN2, HPV16-CIN3, and normal cervical keratinocytes derived from two HPV16-CIN2, two HPV-CIN3 lesions, and two corresponding normal cervical tissues, respectively. Differentially expressed genes were analyzed in normal cervical keratinocytes compared with HPV16-CIN2 keratinocytes and in HPV16-CIN2 keratinocytes compared with HPV16-CIN3 keratinocytes; 37 candidate genes with continuously increasing or decreasing expression during CIN progression were identified. One of these genes, phosphoglycerate dehydrogenase, was chosen for further characterization. Quantitative reverse transcription-polymerase chain reaction and immunohistochemical analysis confirmed that expression of phosphoglycerate dehydrogenase consistently increases during progression of CIN toward cancer. Gene expression changes occurring during CIN progression were investigated using microarray analysis, for the first time, in CIN2 and CIN3 keratinocytes naturally infected with HPV16. Phosphoglycerate dehydrogenase is likely to be associated with tumorigenesis and may be a potential prognostic marker for CIN progression.
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- 2015
3. GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE
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Selvatici, Rita, Rimessi, Paola, Trabanelli, Cecilia, Venturoli, A., Dolcini, B., Fabris, Marina, Taddei Masieri, M., Gualandi, Francesca, Ferlini, Alessandra, and Ravani, Anna
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NO - Published
- 2015
4. Very late onset Friedreich ataxia: a case report
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Selvatici, Rita, Armaroli, A., Ravani, A., Caniatti, M. L., Groppo, E., Tola, M. R., Ferlini, Alessandra, and Gualandi, F.
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NO - Published
- 2014
5. Prevalence of SMN1 gene duplication in different ethnic groups: implication for carrier testing
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Rimessi, P., Trabanelli, C., Fabris, M., Venturoli, A., Dolcini, B., Taddei Masieri, M., Selvatici, Rita, Balboni, A., Melchiorri, L., Ravani, A., Gualandi, F., and Ferlini, Alessandra
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NO - Published
- 2014
6. MTHFR gene promoter hypermethylation correlates with semen samples of infertile couples with recurrence spontaneous abortion
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Rotondo, John Charles, Bosi, Silvia, Bazzan, E, Di Domenico, M, DE MATTEI, Monica, Selvatici, Rita, Patella, Alfredo, Marci, Roberto, Tognon, Mauro, and Martini, Fernanda
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ABORTION ,MTHFR ,GENE ,HYPERMETHYLATION ,INFERTILITY ,NO - Published
- 2012
7. Molecular diagnosis of dominant and recessive spinocerebellar ataxias
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Selvatici, Rita, Dolcini, B., Venturoli, A., Trabanelli, C., Carturan, S., Taddei Masieri, M., Ravani, A., and Ferlini, Alessandra
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NO - Published
- 2010
8. Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara
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Ravani, A., Venturoli, A., Trabanelli, C., Dolcini, B., Taddei Masieri, M., Carturan, S., Rimessi, P., Gualandi, Francesca, Brioschi, Simona, Selvatici, Rita, and Ferlini, Alessandra
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NO - Published
- 2010
9. NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari
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Neri, Marcella, Scotton, Chiara, Brioschi, Simona, Vattemi, G., Selvatici, Rita, Gualandi, Francesca, Levy, N., and Ferlini, Alessandra
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NO - Published
- 2010
10. A window on the lab: one year of diagnostic activity in the molecular genetics laboratory of Ferrara – Italy
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Ravani, A., Venturoli, A., Rimessi, P., Dolcini, B., Taddei Masieri, M., Trabanelli, C., Carturan, S., Brioschi, S., Selvatici, Rita, Gualandi, F., and Ferlini, Alessandra
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NO - Published
- 2010
11. fMLP-OMe analogues trigger specific signalling pathways in the physiological functions of human neutrophils
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Spisani, Susanna and Selvatici, Rita
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protein kinases ,human neutrophils ,inflammation ,cellular responses ,formyl-tripeptides ,transduction pathways ,NO - Published
- 2006
12. Involvement of specific PKC isoforms in atopic asthma patients
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Selvatici, Rita, Piubello, C., Papi, Alberto, and Gandini, Enrico
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NO - Published
- 2000
13. The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
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Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini, Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R., Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A., Ergoli, M., Politano, L., Torella, A., Nigro, V., Mercuri, E., Ferlini, A., Falzarano, M, Margutti, A. Rimessi P., Comi, Gp, Piemontese, Mr, Merla, G, Santorelli, Fm, Sansone, Va, Berardinelli, Al, Antonella, P., Toscano, Giuseppe, Vita, Marika, Pane, Serenella, Servidei, Elena, Pegoraro, Lorena, Travaglini, Enrico Bertini, A., Mercuri, E. Ferlini A., Neri, Marcella, Rossi, Rachele, Trabanelli, Cecilia, Mauro, Antonio, Selvatici, Rita, Falzarano, Maria Sofia, Spedicato, Noemi, Margutti, Alice, Rimessi, Paola, Fortunato, Fernanda, Fabris, Marina, Gualandi, Francesca, Comi, Giacomo, Tedeschi, Silvana, Seia, Manuela, Fiorillo, Chiara, Traverso, Monica, Bruno, Claudio, Giardina, Emiliano, Piemontese, Maria Rosaria, Merla, Giuseppe, Cau, Milena, Marica, Monica, Scuderi, Carmela, Borgione, Eugenia, Tessa, Alessandra, Astrea, Guia, Santorelli, Filippo Maria, Merlini, Luciano, Mora, Marina, Bernasconi, Pia, Gibertini, Sara, Sansone, Valeria, Mongini, Tiziana, Berardinelli, Angela, Pini, Antonella, Liguori, Rocco, Filosto, Massimiliano, Messina, Sonia, Vita, Gianluca, Toscano, Antonio, Vita, Giuseppe, Pane, Marika, Servidei, Serenella, Pegoraro, Elena, Bello, Luca, Travaglini, Lorena, Bertini, Enrico, D'Amico, Adele, Ergoli, Manuela, Politano, Luisa, Torella, Annalaura, Nigro, Vincenzo, Mercuri, Eugenio, and Ferlini, Alessandra
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musculoskeletal diseases ,0301 basic medicine ,muscular dystrophy ,lcsh:QH426-470 ,read-through therapy ,Population ,Nonsense mutation ,dystrophin ,exon skipping therapy ,nationwide study ,dystrophin, exon skipping therapy, muscular dystrophy, nationwide study, read-through therapy ,Gene mutation ,Biology ,Settore MED/03 - GENETICA MEDICA ,NO ,Frameshift mutation ,03 medical and health sciences ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,0302 clinical medicine ,Genotype ,Genetics ,Missense mutation ,Mutation frequency ,education ,Genetics (clinical) ,Original Research ,education.field_of_study ,Exon skipping ,Settore MED/26 - NEUROLOGIA ,lcsh:Genetics ,030104 developmental biology ,Settore MED/03 ,030220 oncology & carcinogenesis ,Molecular Medicine - Abstract
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a nationwide study involving 11 diagnostic centers in a 10-year window (2008–2017). In DMD patients, we found deletions in 57%, duplications in 11% and small mutations in 32%. In BMD, we found deletions in 78%, duplications in 9% and small mutations in 13%. In BMD, there are a higher number of deletions, and small mutations are more frequent than duplications. Among small mutations that are generally frequent in both phenotypes, 44% of DMD and 36% of BMD are nonsense, thus, eligible for stop codon read-through therapy; 63% of all out-of-frame deletions are eligible for single exon skipping. Patients were also assigned to Italian regions and showed interesting regional differences in mutation distribution. The full genetic characterization in this large, nationwide cohort has allowed us to draw several correlations between DMD/BMD genotype landscapes and mutation frequency, mutation types, mutation locations along the gene, exon/intron architecture, and relevant protein domain, with effects on population genetic characteristics and new personalized therapies. © Copyright © 2020 Neri, Rossi, Trabanelli, Mauro, Selvatici, Falzarano, Spedicato, Margutti, Rimessi, Fortunato, Fabris, Gualandi, Comi, Tedeschi, Seia, Fiorillo, Traverso, Bruno, Giardina, Piemontese, Merla, Cau, Marica, Scuderi, Borgione, Tessa, Astrea, Santorelli, Merlini, Mora, Bernasconi, Gibertini, Sansone, Mongini, Berardinelli, Pini, Liguori, Filosto, Messina, Vita, Toscano, Vita, Pane, Servidei, Pegoraro, Bello, Travaglini, Bertini, D'Amico, Ergoli, Politano, Torella, Nigro, Mercuri and Ferlini
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- 2020
14. Transcriptional and epigenetic analyses of the DMD locus reveal novel cisâacting DNA elements that govern muscle dystrophin expression
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Paolo Pigini, Maria Sofia Falzarano, Alessandra Ferlini, Marina Mora, C. Scotton, Pia Bernasconi, H. Osman, Lucia Morandi, Matteo Bovolenta, Lorenzo Maggi, Francesca Gualandi, Giovanni Perini, Samuele Gherardi, Alessandra Recchia, Marcella Neri, Rita Selvatici, Chiara Passarelli, Annarita Armaroli, Gherardi, Samuele, Bovolenta, Matteo, Passarelli, Chiara, Falzarano, Maria Sofia, Pigini, Paolo, Scotton, Chiara, Neri, Marcella, Armaroli, Annarita, Osman, Hana, Selvatici, Rita, Gualandi, Francesca, Recchia, Alessandra, Mora, Marina, Bernasconi, Pia, Maggi, Lorenzo, Morandi, Lucia, Ferlini, Alessandra, and Perini, Giovanni
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Adult ,0301 basic medicine ,musculoskeletal diseases ,congenital, hereditary, and neonatal diseases and abnormalities ,Adolescent ,Biophysics ,Locus (genetics) ,Regulatory Sequences, Nucleic Acid ,Biology ,Gene mutation ,Biochemistry ,Epigenesis, Genetic ,NO ,Dystrophin ,Mice ,Young Adult ,03 medical and health sciences ,Duchenne Muscular Dystrophy (DMD) ,Transcriptional regulation ,Structural Biology ,Utrophin ,Becker Muscular Dystrophy (BMD) ,Genetics ,Animals ,Humans ,Chromosome Conformation Capture (3C) ,RNA pol II pausing ,Molecular Biology ,Child ,Muscle, Skeletal ,Gene ,Cells, Cultured ,Regulation of gene expression ,Chromatin ,Muscular Dystrophy, Duchenne ,030104 developmental biology ,Gene Expression Regulation ,Biophysic ,Child, Preschool ,Mutation ,biology.protein ,HeLa Cells - Abstract
The dystrophin gene (DMD) is the largest gene in the human genome, mapping on the Xp21 chromosome locus. It spans 2.2 Mb and accounts for approximately 0,1% of the entire human genome. Mutations in this gene cause Duchenne and Becker Muscular Dystrophy, X-linked Dilated Cardiomyopathy, and other milder muscle phenotypes. Beside the remarkable number of reports describing dystrophin gene expression and the pathogenic consequences of the gene mutations in dystrophinopathies, the full scenario of the DMD transcription dynamics remains however, poorly understood. Considering that the full transcription of the DMD gene requires about 16 h, we have investigated the activity of RNA Polymerase II along the entire DMD locus within the context of specific chromatin modifications using a variety of chromatin-based techniques. Our results unveil a surprisingly powerful processivity of the RNA polymerase II along the entire 2.2 Mb of the DMD locus with just one site of pausing around intron 52. We also discovered epigenetic marks highlighting the existence of four novel cisâDNA elements, two of which, located within intron 34 and exon 45, appear to govern the architecture of the DMD chromatin with implications on the expression levels of the muscle dystrophin mRNA. Overall, our findings provide a global view on how the entire DMD locus is dynamically transcribed by the RNA pol II and shed light on the mechanisms involved in dystrophin gene expression control, which can positively impact on the optimization of the novel ongoing therapeutic strategies for dystrophinopathies.
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- 2017
15. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking
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Hui Jiang, Francesca Romana Di Raimo, Subreena Simrick, Giorgio Tasca, Jianguo Zhang, Fabiana Fattori, C. Scotton, Claudio Rapezzi, Thomas Brand, Bruno Dallapiccola, Rita Selvatici, Niels Decher, Alexander Froese, Viacheslav O. Nikolaev, Antonello Pietrangelo, Roland F.R. Schindler, Jun Wang, Fabrizio Drago, Enrico Bertini, Susanne Rinné, Marcella Neri, Alessandra Ferlini, Thorsten Schwerte, Kar Lai Poon, Thomas Müller, Christiane Grunert, Wenyan Li, Eloisa Arbustini, Mingyan Fang, Xun Xu, Chiara Passarelli, Beatriz Ortiz-Bonnin, Padmini Sarathchandra, Francesca Gualandi, Schindler, Roland F. R., Scotton, Chiara, Zhang, Jianguo, Passarelli, Chiara, Ortiz-Bonnin, Beatriz, Simrick, Subreena, Schwerte, Thorsten, Poon, Kar-Lai, Fang, Mingyan, Rinné, Susanne, Froese, Alexander, Nikolaev, Viacheslav O., Grunert, Christiane, Müller, Thoma, Tasca, Giorgio, Sarathchandra, Padmini, Drago, Fabrizio, Dallapiccola, Bruno, Rapezzi, Claudio, Arbustini, Eloisa, Romana Di Raimo, Francesca, Neri, Marcella, Selvatici, Rita, Gualandi, Francesca, Fattori, Fabiana, Pietrangelo, Antonello, Li, Wenyan, Jiang, Hui, Xu, Xun, Bertini, Enrico, Decher, Niel, Wang, Jun, Brand, Thoma, Ferlini, Alessandra, Medical Research Council (MRC), British Heart Foundation, and The Magdi Yacoub Institute
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0301 basic medicine ,Male ,Pathology ,Muscle Proteins ,Research & Experimental Medicine ,DOMAIN-CONTAINING PROTEINS ,domain containing proteins ,Membrane Potentials ,Cyclic AMP ,Missense mutation ,Muscular dystrophy ,Child ,Zebrafish ,Membrane Protein ,Cardiac muscle cell ,Aged, 80 and over ,biology ,Medicine (all) ,Aged ,Animals ,Arrhythmias, Cardiac ,Humans ,Membrane Proteins ,Middle Aged ,Muscular Dystrophies, Limb-Girdle ,Mutation ,Potassium Channels, Tandem Pore Domain ,Protein Transport ,STRESS-MEDIATED MODULATION ,General Medicine ,11 Medical And Health Sciences ,medicine.anatomical_structure ,Medicine, Research & Experimental ,SKELETAL-MUSCLE ,HEART ,POTASSIUM CHANNEL ,muscular dystrophy ,arrhythmia ,ITGA7 ,Life Sciences & Biomedicine ,Human ,Research Article ,medicine.medical_specialty ,HL-1 CELLS ,Immunology ,cardiac pacemakin ,Membrane Potential ,NO ,HL1 cell ,03 medical and health sciences ,Internal medicine ,medicine ,KINASE ,Allele ,skeletal muscle ,Science & Technology ,COMPLEX ,Animal ,Cardiac arrhythmia ,Skeletal muscle ,stress mediated modulation, domain containing proteins, skeletal muscle, cardiac pacemakin, potassium channel, HL1 cell, zebrafish, heart, kinase ,biology.organism_classification ,medicine.disease ,030104 developmental biology ,Endocrinology ,stress mediated modulation ,CARDIAC PACEMAKING ,Cell Adhesion Molecules - Abstract
The Popeye domain-containing 1 (POPDC1) gene encodes a plasma membrane-localized cAMP-binding protein that is abundantly expressed in striated muscle. In animal models, POPDC1 is an essential regulator of structure and function of cardiac and skeletal muscle; however, POPDC1 mutations have not been associated with human cardiac and muscular diseases. Here, we have described a homozygous missense variant (c.602C>T, p.S201F) in POPDC1, identified by whole-exome sequencing, in a family of 4 with cardiac arrhythmia and limb-girdle muscular dystrophy (LGMD). This allele was absent in known databases and segregated with the pathological phenotype in this family. We did not find the allele in a further screen of 104 patients with a similar phenotype, suggesting this mutation to be family specific. Compared with WT protein, POPDC1(S201F) displayed a 50% reduction in cAMP affinity, and in skeletal muscle from patients, both POPDC1(S201F) and WT POPDC2 displayed impaired membrane trafficking. Forced expression of POPDC1(S201F) in a murine cardiac muscle cell line (HL-1) increased hyperpolarization and upstroke velocity of the action potential. In zebrafish, expression of the homologous mutation (popdc1(S191F)) caused heart and skeletal muscle phenotypes that resembled those observed in patients. Our study therefore identifies POPDC1 as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and LGMD, expanding the genetic causes of this heterogeneous group of inherited rare diseases. peerReviewed
- Published
- 2014
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