102 results on '"Cascino, I."'
Search Results
2. Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene
- Author
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PALADINI, F., COCCO, E., CASCINO, I., BELFIORE, F., BADIALI, D., PIRETTA, L., ALGHISI, F., ANZINI, F., FIORILLO, M. T., CORAZZIARI, E., and SORRENTINO, R.
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- 2009
- Full Text
- View/download PDF
3. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B*2705 in Sardinia
- Author
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Paladini, F, Cocco, E, Cauli, A, Cascino, I, Vacca, A, Belfiore, F, Fiorillo, M T, Mathieu, A, and Sorrentino, R
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- 2008
4. Polymorphism in the vasoactive intestinal peptide receptor 1 gene (VPAC1) increases the risk of idiopathic achalasia: OP38
- Author
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PALADINI, F., COCCO, E., CASCINO, I., BELFIORE, F., BADIALI, D., PIRETTA, L., ALGH-ISI, F., ANZINI, F., FIORILLO, M., SORRENTINO, R., and CORAZZIARI, E. S.
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- 2008
5. The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region)
- Author
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Petrone, A, Bugawan, T.L, Mesturino, C.A, Nisticò, L, Galgani, A, Giorgi, G, Cascino, I, Erlich, H.A, Di Mario, U, and Buzzetti, R
- Published
- 2001
6. High risk of congenital hypothyroidism in multiple pregnancies
- Author
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Olivieri A., Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Stazi M, Altamura R, Angeloni U, Antonozzi I, Baserga M, Berardi R, Bernasconi S, Bona G, Burroni M, Calaciura F, Caldarera R, Cappa M, Casini M, Cavallo L, Cherubini V, Chiumello G, Chiovato L, Cicchetti M, Cicciò M, Coppa G, Coppola A, Corbetta C, Cordova R, Correra A, Costa P, Dammacco F, De Luca F, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Giovannelli G, Grasso G, Gurrado R, Lasciarrea L, Lelli A, Leonardi D, Liotta A, Loche S, Lorini R, Manente G, Minelli G, Monaco F, Moschini L, Musarò M, Mussa G, Narducci T, Pagliardini S, Palillo L, Parlato G, Pasquini E, Peruzzi L, Piazzi S, Pinchera A, Pizzolante M, Puggioni R, Rizzo A, Saggese G, Sala D, Salerno C, Salti R, Sava L, Scognamiglio D, Stoppioni V, Tatò L, Tonacchera M, Vigneri R, Vignola G, Vigone M, Volta C, Weber G., CACCIARI, EMANUELE, CASSIO, ALESSANDRA, CICOGNANI, ALESSANDRO, Olivieri, A, Medda, E, DE ANGELIS, S, Valensise, H, DE FELICE, Mario, Fazzini, C, Cascino, I, Cordeddu, V, Sorcini, M, Stazi, Ma, Olivieri A, Medda E, De Angelis S, Valensise H, De Felice M, Fazzini C, Cascino I, Cordeddu V, Sorcini M, Stazi M, Altamura R, Angeloni U, Antonozzi I, Baserga M, Berardi R, Bernasconi S, Bona G, Burroni M, Cacciari E, Calaciura F, Caldarera R, Cappa M, Casini M, Cassio A, Cavallo L, Cherubini V, Chiumello G, Chiovato L, Cicchetti M, Cicciò M, Cicognani A, Coppa G, Coppola A, Corbetta C, Cordova R, Correra A, Costa P, Dammacco F, De Luca F, De Santis C, Di Maio S, Gallicchio G, Gastaldi R, Giovannelli G, Grasso G, Gurrado R, Lasciarrea L, Lelli A, Leonardi D, Liotta A, Loche S, Lorini R, Manente G, Minelli G, Monaco F, Moschini L, Musarò M, Mussa G, Narducci T, Pagliardini S, Palillo L, Parlato G, Pasquini E, Peruzzi L, Piazzi S, Pinchera A, Pizzolante M, Puggioni R, Rizzo A, Saggese G, Sala D, Salerno C, Salti R, Sava L, Scognamiglio D, Stoppioni V, Tatò L, Tonacchera M, Vigneri R, Vignola G, Vigone M, Volta C, Weber G, De Angelis, S, De Felice, M, and Weber, Giovanna
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Adult ,Male ,Risk ,Heterozygote ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,Concordance ,Birth weight ,Clinical Biochemistry ,Population ,Thyroid Gland ,Twins ,Thyrotropin ,Context (language use) ,Biochemistry ,Neonatal Screening ,Endocrinology ,Internal medicine ,medicine ,Birth Weight ,Humans ,Sex Ratio ,education ,Pregnancy ,education.field_of_study ,Singleton ,business.industry ,Incidence (epidemiology) ,Homozygote ,Biochemistry (medical) ,Congenital Hypothyroidism ,Female ,Infant, Newborn ,Italy ,Linear Models ,Pregnancy, Multiple ,Thyroxine ,Infant ,Newborn ,medicine.disease ,CONGENITAL HYPOTHYROIDISM ,Congenital hypothyroidism ,Diabetes and Metabolism ,pregnancy ,business ,Multiple - Abstract
CONTEXT: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included. OBJECTIVE: Our objective was to estimate the risk of CH in multiple and single deliveries and to compare neonatal features of CH twins with twins from the general population. DESIGN: The Italian population of CH infants recorded in the INRICH from 1989-2000 was investigated. RESULTS: A more than 3-fold higher frequency of twins was found in the CH population than in the general population, and for the first time, it was possible to estimate the CH incidence in multiple (10.1 in 10,000) and single deliveries (3.2 in 10,000 live births). Significantly higher frequencies of in situ gland as well as lower TSH mean level at screening were found in twin than in singleton CH babies. The concordance rate for permanent CH was very low (4.3%) and due to only three concordant couples. However, a high recurrence risk for CH was estimated in siblings of affected babies recorded in the INRICH, including twins considered as siblings. CONCLUSIONS: The high CH incidence observed in twins is worthy of interest for the high number of induced pregnancies in Italy as well as in other Western countries. Moreover, the low concordance rate for CH among twins together with a high recurrence risk for the disease among siblings indicates that environmental risk factors may act as a trigger on a susceptible genetic background in the etiology of the disease
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- 2007
7. Multiple sclerosis in twins from continental Italy and Sardinia: a nationwide study
- Author
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Ristori G, Cannoni S, Stazi MA, Vanacore N, Cotichini R, Alfo M, Pugliatti M, Sotgiu S, Solaro C, Bomprezzi R, Di Giovanni S, Figa` Talamanca L, Nistico L, Fagnani C, Neale MC, Cascino I, Giorgi G, Battaglia MA, Buttinelli C, Tosi R, Salvetti M, M. Melato, R. Dellantonio, L. Sironi, E. Bottacchi, M. Signorino, R. Angeloni, L. Curatola, C. Paci, M. Ragno, G. Sirocchi, AM. Vurchio, E. Duc, D. Spitaleri, M. Trojano, M. Liguori, N. Cimini, G. Moretto, M. Porta, MR Rottoli A. Mamoli, M. Camerlingo, E. Nardozza, T. Sacquegna, S. Stecchi, C. Scandellari, L. Callea, R. Capra, M. Codella, M. G. Marrosu, E. Cocco, A. Spissu, G. Cossu, S. Tronci, A. Di Lauro, E. Lombardi, A. Reggio, F. Patti, P. Valentino, A. Quattrone, D Farina, M. E. Nives, A. Lugaresi, F. Perla, M. G. Rosso, M. R. Tola, E. Granieri, MP Amato L. Massacesi, E. Millefiorini, V. Durastanti, G. L. Mancardi, A. Murialdo, NR. Pizio, P. Bellantonio, R. Fantozzi, R. Totaro, A. Carolei, F. Giramma, A. T. Lazzaro, C. Giraldi, M. Mazzoni, G. Giuliani, E. Pucci, P. Previdi, MC. Fazio, M. Buccafusca, P. Girlanda, C. Messina, G. D’Aleo, C. Milanese, L. Lamantia, D. Caputo, E. Scarpini, R. Clerici, L. Moiola, M. Gironi, E. Merelli, F. Casoni, S. Bonavita, G. Tedeschi, M. Leone, D. Mittino, SB. Murgia, L. Musu, P. Gallo, P. Perini, E. Frasson, G. Salemi, G. Cuccia, E. Montanari, L. Manneschi, D. Saviola, M. Antonelli, V. Cosi, R. Bergamaschi, V. Gallai, D. Murasecco, P. Sarchielli, R. Urcioli, G. Perticoni, G. Meucci, G. Moscato, B. Lucci, E. Covezzi, MG. Coniglio, D. Acquistapace, L. Motti, B. Dossi Curro`, M. Frontoni, C. Mainero, P. Giannetti, I. Pestalozza, S. Di Legge, M. Spadaro, C. Pozzilli, S. Romano, B. Mercuri, C. Scoppetta, C. Gasperini, S. Galgani, MG. Grasso, S. Paolucci, PA. Tonali, A. Leonardi, A. Oneto, G Rosati, M. A. Sotgiu, A. Bertolotto, M. Capobianco, L. Durelli, M. Clerico, L. Sosso, R. Bongioanni, D. Orrico, C. Carbonin, U. Freo. M. Zaffaroni, A. Ghezzi, N. Falcone, Ristori G, Cannoni S, Stazi MA, Vanacore N, Cotichini R, Alfo M, Pugliatti M, Sotgiu S, Solaro C, Bomprezzi R, Di Giovanni S, Figa` Talamanca L, Nistico L, Fagnani C, Neale MC, Cascino I, Giorgi G, Battaglia MA, Buttinelli C, Tosi R, Salvetti M, M. Melato, R. Dellantonio, L.Sironi, E. Bottacchi, M. Signorino, R. Angeloni, L. Curatola, C. Paci, M. Ragno, G. Sirocchi, AM. Vurchio, E. Duc, D. Spitaleri, M. Trojano, M. Liguori, N. Cimini, G. Moretto, M. Porta, MR Rottoli A. Mamoli, M. Camerlingo, E. Nardozza, T. Sacquegna, S. Stecchi, C. Scandellari, L. Callea, R. Capra, M. Codella, M. G. Marrosu, E. Cocco, A. Spissu, G. Cossu, S. Tronci, A. Di Lauro, E. Lombardi, A. Reggio, F. Patti, P. Valentino, A. Quattrone, D Farina, M. E. Nives, A. Lugaresi, F. Perla, M. G. Rosso, M.R. Tola, E. Granieri, MP Amato L. Massacesi, E. Millefiorini, V. Durastanti, G. L. Mancardi, A. Murialdo, NR. Pizio, P. Bellantonio, R. Fantozzi, R. Totaro, A. Carolei, F. Giramma, A. T. Lazzaro, C. Giraldi, M. Mazzoni, G. Giuliani, E. Pucci, P. Previdi, MC. Fazio, M. Buccafusca, P. Girlanda, C. Messina, G. D’Aleo, C. Milanese, L. Lamantia, D. Caputo, E. Scarpini, R. Clerici, L. Moiola, M. Gironi, E. Merelli, F. Casoni, S. Bonavita, G. Tedeschi, M. Leone, D. Mittino, SB. Murgia, L. Musu, P. Gallo, P. Perini, E. Frasson, G. Salemi, G. Cuccia, E. Montanari, L. Manneschi, D. Saviola, M. Antonelli, V. Cosi, R. Bergamaschi, V. Gallai, D. Murasecco, P. Sarchielli, R. Urcioli, G. Perticoni, G. Meucci, G. Moscato, B. Lucci, E. Covezzi, MG. Coniglio, D. Acquistapace, L. Motti, B. Dossi Curro`, M. Frontoni, C. Mainero, P. Giannetti, I. Pestalozza, S. Di Legge, M. Spadaro, C. Pozzilli, S. Romano, B. Mercuri, C. Scoppetta, C. Gasperini, S. Galgani, MG. Grasso, S. Paolucci, PA. Tonali, A. Leonardi, A. Oneto, and G Rosati, M. A. Sotgiu, A. Bertolotto, M. Capobianco, L. Durelli, M. Clerico, L. Sosso, R. Bongioanni, D. Orrico, C. Carbonin, U. Freo. M. Zaffaroni, A. Ghezzi, N. Falcone
- Subjects
Male ,Questionnaires ,Multiple Sclerosis ,Concordance ,Population ,Twins ,Dizygotic twins ,Disease cause ,Multiple Sclerosis, Epidemiology, Twins ,Cohort Studies ,Cohort Studies, Disease Susceptibility, Female, Genetic Predisposition to Disease, Humans, Italy ,epidemiology, Male, Multiple Sclerosis ,epidemiology/genetics, Questionnaires, Regression Analysis, Twins ,Surveys and Questionnaires ,medicine ,Humans ,Genetic Predisposition to Disease ,education ,education.field_of_study ,epidemiology/genetics ,business.industry ,Multiple sclerosis ,medicine.disease ,Penetrance ,Twin study ,Confidence interval ,Neurology ,Italy ,Regression Analysis ,Settore MED/26 - Neurologia ,Female ,epidemiology ,Neurology (clinical) ,Disease Susceptibility ,business ,Demography - Abstract
Knowledge about the balance between heritable and nonheritable risk in multiple sclerosis (MS) is based on twin studies in high-prevalence areas. In a study that avoided ascertainment limitations and directly compared continental Italy (medium-prevalence) and Sardinia (high-prevalence), we ascertained 216 pairs from 34,549 patients. This gives a twinning rate of 0.62% among MS patients, significantly less than that of the general population. In continental Italy, probandwise concordance was 14.5% (95% confidence interval, 5.1-23.8) for monozygotic and 4.0% (95% confidence interval, 0.8-7.1) for dizygotic twins. Results in Sardinia resemble those in northern populations but in limited numbers. Monozygotic concordance was 22.2% (95% confidence interval, 0-49.3) probandwise, but no concordant dizygotic pairs were identified. A questionnaire on 80 items possibly related to disease cause was administered to 70 twin pairs, 135 sporadic patients, and 135 healthy volunteers. Variables positively (7) or negatively (2) associated with predisposition and concordance in twins largely overlapped and were mainly linked to infection. If compared with previous studies, our data demonstrate that penetrance in twins appears to correlate with MS prevalence. They highlight the relevance of nonheritable variables in Mediterranean areas. The apparent underrepresentation of MS among Italian twins draws attention to protective factors, shared by twins, that may influence susceptibility.
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- 2006
- Full Text
- View/download PDF
8. A differential distribution of a functional polymorphism in the HLA-E gene in Sardinia suggest a possible role of natural Killer function in Ankylosing Spondylitis pathgenesis
- Author
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Paladini, Fabiana, Cascino, I, Cocco, E, Belfiore, F, Cauli, A, Mathieu, A, and Sorrentino, Rosa
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- 2008
9. Analysis of the HBLA-B27 extended haplotype in Sardinia disclosed additional predisposing factors for Ankylosing Spondylitis
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Cascino I., Paladini F., Belfiore F., Cauli A., Angelini C., Fiorillo M.T., Matieu A., and Sorrentino R.
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- 2007
10. IDDM12 Locus analysis in T1DM: identification and characterization of functional polymorphisms
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Ruberti G., Belfiore F., Malquori L., Carsetti L., and Cascino I
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CTLA4 ,ICOS ,T1D - Abstract
Title: IDDM12 LOCUS ANALYSIS IN T1DM: IDENTIFICATION AND CHARACTERIZATION OF FUNCTIONAL POLYMORPHISMS Keywords: T1D, CTLA4, ICOS Disease: Type 1 diabetes Research type: Basic science Authors: Ruberti G, Belfiore F, Malquori L, Carsetti L and Cascino I. Institute of Cell Biology Via E. Ramarini, 00016 Monterotondo scalo (RM) Tel. 06-90091201, Fax 06-90091260, Abstract: Type1 Diabetes (T1D) is a polygenic disease caused by the immune-mediated destruction of pancreatic insulin-secreting-cells. Increasing evidence both in humans and in animal models has shown that defect(s) in immunoregulation underlie T1D, similarly to other immune-mediated disorders. T cell activation results from the integration of signals generated through the T cell antigen receptor-CD3 complex with those from additional positive and negative regulatory pathways mainly mediated by engagement of costimulatory receptors on T cells. Disruption of this balance leads to a defective immune response or alternative over-activation of the immune system. Genetic studies of human T1D indicate the presence of a disease locus in a restricted region on chromosome 2q33 (IDDM12) and in the orthologous region of murine chromosome 1. CD28, CTLA4 and ICOS genes, coding for lymphocyte co-stimulatory receptors, map in IDDM12 locus (1-3). Data obtained by our group in nuclear families and in a case-control study show an association with T1D of a series of markers in the IDDM12 region. These appear to belong to two separate association groups, one centered on the CTLA4 locus and the other on the ICOS locus. The specific aims of this project are to: 1. Identify and functionally characterize the disease variation in the ICOS region; 2. Study the functional role of the T1D-associated CTLA4 3'UTR (AT)n repeat and the CT60 polymorphism on mRNA stability and targeting. Aim 1. For the analysis of the region comprised between ICOS gene and d2s2189 microsatellite (150 kb) we have selected 12 SNPs, already described in the NCBI SNP database. The SNPs were selected for being located in the sequences that were at least 80% identical to the orthologous mouse region over a 100 bp. The underlying rationale is that essential regulatory elements are conserved among mammals, suggesting that cross-species sequence comparisons should identify them (4). We have set up the conditions for multiple PCRs and multiple microsequencing on 10 DNA control samples.Then, we have tested for association the 12 SNP in a case-control study. Three SNP who showed a trand of association with the disease, are now under TDT study on our T1D family panel with at least one affected child. Aim 2. CTLA-4 plays a critical role in downregulating T cell responses. T1D and other autoimmune diseases have shown genetic linkage to the CTLA4 locus. Here, we report that the 3'UTR of CTLA4 regulates Luciferase reporter gene expression, and CTLA4 mRNA decay and translation efficiency, providing the cells with tools to rapidly respond to changes in intracellular and extracellular stimuli. Intriguingly, we also observed that the length of the (AT)n repeat contributed to gene expression regulation. The 3'UTR T1D-associated (AT)n repeat medium (16AT) and long (24AT) alleles decreased the luciferase activity of 80% and 70% respectively in Jurkat and Hek 293T cells; while the short (6AT) allele decreased the activity of 70% and 60% in the hematopoietic and epithelial cell lines. The difference observed was statistically significant in both cell types (p
- Published
- 2007
11. Co-ordinator report, JDRF-Telethon Project IDDM locus analysis in T1DM- Identification and characterization of functional polymorphisms, 2006-07
- Author
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Cascino I. and Ruberti G.
- Abstract
Project Abstract - T1DM is a polygenic disease caused by the immune-mediated destruction of pancreatic insulin-secreting-cells. Increasing evidence both in humans and in animal models has shown that defect(s) in immunoregulation underlie autoimmune diabetes, similarly to other immune-mediated disorders. T cell activation results from the integration of signals generated through the T cell receptor with those from additional positive and negative regulatory pathways. Disruption of this balance leads to a defective immune response or alternative over-activation of the system as observed in several human diseases. Genetic studies of human T1DM indicate the presence of a disease locus in a restricted region on chromosome 2q33 (IDDM12) and in the orthologous region of murine chromosome 1. CD28, CTLA4 and ICOS genes, coding for lymphocyte co-stimulatory receptors, map in IDDM12 locus. Data obtained by our group in nuclear families and in a case-control study show an association with T1DM of a series of markers in the IDDM12 region. These appear to belong to two separate association groups, one centered on the CTLA4 locus and the other on the ICOS locus. The specific aims of this project are to: 1. Identify and functionally characterize the disease variation in the ICOS region (Task A); 2. Study the functional role of the T1DM-associated CTLA4 3' UTR (AT)n repeat and the CT60 polymorphis on mRNA stability and targeting (Task B).
- Published
- 2007
12. Comparison of Supertypic Specificities by Cytotoxicity and by Radioimmunoassay in Segregating Families
- Author
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Ferrara, G. B., primary, Centis, D., additional, Cascino, I., additional, Lulli, P., additional, Mennucci, M., additional, Morellini, M., additional, Pistillo, M. P., additional, Roncella, S., additional, Trabace, S., additional, Viviani, C., additional, and Longo, A., additional
- Published
- 1984
- Full Text
- View/download PDF
13. Multiple sclerosis in twins fromcontinental italy and sardinia: a nationwide study
- Author
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Ristori, G., Cannoni, S., ANTONIETTA STAZI, M., Vanacore, N., Cotichini, R., Alfo, M., Pugliatti, M., Sotgiu, S., Solaro, C., Bomprezzi, R., DI GIOVANNI, S., Figatalamanca, L., Nistico, L., Fagnani, C., Neale, M. C., Cascino, I., Giorgi, G., Battaglia, M. A., Buttinelli, C., Tosi, R., Salvetti, AND M., and Durelli, Luca
- Published
- 2006
14. Multiple sclerosis in twins from continental Italy and Sardinia: A nationwide study
- Author
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Ristori, G, Cannoni, S, Stazi, Ma, Vanacore, N, Cotichini, R, Alfo, M, Pugliatti, M, Sotgiu, S, Solaro, C, Bomprezzi, R, Di Giovanni, S, Talamanca, Lf, Nistico, L, Fagnani, C, Neale, Mc, Cascino, I, Giorgi, G, Battaglia, Ma, Buttinelli, C, Tosi, R, Salvetti, M, Italian Study Group on Multiple Sclerosis in Twins Melato, M., Dellantonio, R, Sironi, L, Bottacchi, E, Signorino, M, Angeloni, R, Curatola, R, Paci C, C., Ragno, M, Sirocchi, G, Vurchio, Am, Duc, E, Spitaleri, D, Trojano, M, Liguori, M, Cimini, G. Moretto, Porta, M., Rottoli, M. R., Mamoli, A., Camer lingo, M., Nardozza, E., Sacquegna, T., Stecchi, S., Scandellari, C., Callea, L., Capra, R., Codella, M., Marrosu, M. G., Cocco, E., Spissu, A., Cossu, G., Tronci, S., Di Lauro, A., Lombardi, E., Reggio, A., Patti, F., Valentino, P., Quattrone, A., Dfarina, D. Farina, Nives, M. E., Lugaresi, A., Perla, F., Mgrosso, M. G. Rosso, Tola, M. R., Granieri, E., Pamato, M. P. Amato, Massacesi, L., Millefiorini, E., Durastanti, V., Mancardi, G. L., Murialdo, A., Nrpizio, N. R. Pizio, Bellantonio, P., Fantozzi, R., Totaro, R., Carolei, A., Giramma, F., Lazzaro, A. T., Giraldi, C., Mazzoni, M., Giuliani, G., Pucci, E., Previdi, P., Mcfazio, M. C. Fazio, Buccafusca, M., Girlanda, P., Cmessina, C. Messina, Gd’Aleo, G. D’Aleo, Milanese, C., La Mantia, L., Caputo, D., Scarpini, E., Clerici, R., Moiola, L., Gironi, M., Merelli, E., Casoni, F., Bonavita, S., Tedeschi, G., Mleone, M. Leone, Mittino, D., Murgia, S. B., Musu, L., Gallo, P., Perini, P., Frasson, E., Salemi, G., Cuccia, G., Montanari, E., Lmanneschi, L. Manneschi, Saviola, D., Antonelli, M., Cosi, V., Rbergamaschi, R. Bergamaschi, Gallai, V., Murasecco, D., Sarchielli, P., Urcioli, R., Perticoni, G., Meucci, G., Moscato, G., Lucci, E. Covezzi, Coniglio, M. G., Dacquistapace, D. Acquistapace, Motti, L., Dossi Curro, B., Frontoni, M., Mainero, C., Giannetti, P., Pestalozza, I., Di Legge, S., Spadaro, M., Pozzilli, C., Romano, S., Mercuri, B., Scoppetta, C., Gasperini, C., Sgalgani, S. Galgani, Ggrasso, M. G. Grasso, Paolucci, S., Tonali, P. A., Leonardi, A., Oneto, A., Rosati, G., Sotgiu, M. A., Bertolotto, A., Capobianco, M., Durelli, Luca, Clerico, Marinella, Sosso, L., Bongioanni, R., Orrico, D., Carbonin, C., Freo, U., Zaffaroni, M., Ghezzi, A., and Falcone, N.
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- 2006
15. Co-ordinator report, ISS Grant Fattori genetici ed ambientali nelle malattie multifattoriali: istituzione di un registro nazionale di gemelli Sclerosi Multipla: modificazioni postzigotiche o epigenetiche in gemelli monozigoti discordanti
- Author
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Cascino I.
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- 2003
16. CTLA-4 in Type 1 Diabetes Mellitus
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Nisticò L., Cascino I., Buzzatti R., and Pozzilli P.
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- 2003
17. Type 1 diabetes and IDDM12 locus in different genetic backgrounds: analysis in affected families of mixed ancestry
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Tosi R.(1), Giorgi G.(1), Nisticò L.(2), Pozzilli P.(3), and Cascino I.(1)
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- 2003
18. The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region)
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Petrone, Antonio, Bugawan, Tl, Mesturino, Ca, Nistico, L, Galgani, A, Giorgi, G, Cascino, I, Erlich, Ha, DI MARIO, Umberto, and Buzzetti, Raffaella
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- 2001
19. IL12B and type 1 diabetes in Italian population: a case-control study
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Nistico, L, Giordano, C, Mellai, M, Giorgi, A, Galgani, A, Buzzetti, Raffaella, and Cascino, I.
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- 2001
20. Association of DRB1*04-0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto?s thyroiditis in a Italian population
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Petrone A., Giorgi G., Mesturino C.A., Capizzi M., Cascino I., Nisticò L., Osborn J., Di Mario U., and Buzzetti R.
- Abstract
Hashimoto's thyroiditis (HT) is an autoimmune disease resulting from a complex interaction between genetic and environmental factors. The genetic loci conferring susceptibility need to be still defined. The aim of the present study was to determine whether Cytotoxic T-Lymphocyte-Associated Antigen-4 (CTLA-4), HLA DRB1, and DQB1 genes were associated to HT in an Italian population. We evaluated the allele distribution of the following loci: CTLA-4 exon 1 A49G dimorphism, which resulted in an amino acidic exchange (Thr/Ala) in the leader peptide, CTLA-4 3' microsatellite, HLA DRB1 and DQB1 in 126 patients with HT and in 301 control subjects from an Italian population (Lazio region). CTLA-4 exon 1 A49G dimorphism was typed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP); CTLA-4 3' microsatellite alleles were defined using a fluorescence-based method. HLA DRB1 and DQB1 alleles were typed using a SSO reverse line blot method and a probeless procedure based on allele group-specific amplification followed by DNA heteroduplex analysis, respectively. Data were initially analyzed by chi2 test or Fisher's exact test. Multiple logistic regression analysis was then applied on factors with significant crude odds ratios and on CTLA-4 exon 1 A49G dimorphism to investigate their independent effects. The two polymorphic sites at CTLA-4 gene did not increase the risk for HT. The distribution of HLA DRB1 and DQB1 alleles did not show any significant difference between patients and controls, however, the DRB1*04-DQB1*0301 haplotype was significantly increased in patients. Other factors that increase the risk of disease were gender and age. Females showed approximately 18 times more risk than males; subjects older than 50 years had an odds ratio of 6.6. These data suggest that these two polymorphic sites at CTLA-4 do not play a major role in the susceptibility of the disease in an Italian population while female gender, age over 50 years, HLA DRB1*04-DQB1*0301 haplotype increase the risk of developing HT.
- Published
- 2001
21. The distribution of HLA class II susceptible/protective haplotypes could partially explain the low incidence of type 1 diabetes in continental Italy (Lazio region)
- Author
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Petrone A., Bugawan T.L., Mesturino C.A., Nisticò L., Giorgi G., Cascino I., Erlich H.A., Di Mario U., and Buzzetti R.
- Subjects
musculoskeletal diseases ,endocrine system diseases ,immune system diseases ,nutritional and metabolic diseases ,skin and connective tissue diseases - Abstract
HLA class II is the primary susceptibility gene to type 1 diabetes and the analysis of HLA class II association could help to clarify the relative weight of genetic contribution to the incidence of the disease. Here we present an extensive typing for HLA class II alleles and their haplotypes in a homogenous population of type 1 diabetic patients (n=134) and controls (n=128) and in simplex (n=100) and multiplex families (n=50) from continental Italy (Lazio region). Among the various haplotypes tested, the DRB1*0301-DQA1*0501-DQB1*0201 was the most frequent found in type 1 diabetic patients and was transmitted in 82% of affected siblings, whereas DRB1*0402-DQA1*0301-DQB1*0302 appeared to have the highest odds ratio (10.4), this haplotype was transmitted in 96.3% of affected siblings, followed by DRB1*0405-DQA1*0301-DQB1*0302, DRB1*0405-DQA1*0301-DQB1*0201, DRB1*0401-DQA1*0301-DQB1*0302 and DRB1*0404-DQA1*0301-DQB1*0302. The following haplotypes showed a significant decreased transmission to diabetic siblings: DRB1*0701-DQA1*0201-DQB1*0303, DR2-DQA1*01-DQB1*0602, DR5-DQA1*0501-DQB1*0301. We suggest that the HLA DR/DQ haplotype/genotype frequencies observed could in part explain the low incidence of type 1 diabetes registered in Lazio region (8.1/100.000/year), for a number of reasons: i) the low frequency, in the general control population, of the most susceptible haplotypes and genotype for type 1 diabetes DRB1*0301-DQA1*0501-DQB1*0201 (14%), and DR4-DQA1*0301-DQB1*0302 (9%) and DRB1*0301-DQA1*0501-DQB1*0201/DR4-DQA1*0301-DQB1*0302 (0.8%) compared to other countries characterised by high incidence rate of the disease, Sardinia and Finland, respectively; ii) a significant lower ratio, in the control population, between the susceptible DRB1*0301-DQA1*0501-DQB1*0201 and the neutral DRB1*0701-DQA1*0501-DQB1*0201 haplotypes compared to the Sardinian population; iii) the high frequency of protection haplotypes/genotypes as the DR5-DQA1*0501-DQB1*0301, and DR5-DQA1*0501-DQB1*0301/DR5-DQA1*0501-DQB1*0301 very common in the control population of Lazio region and the DRB1*1401-DQA1*0101-DQB1*0503 haplotype.
- Published
- 2001
22. Major role for CTLA-4 gene in DR4-positive type 1 diabetic patients and in DR3 negative graves' disease patients
- Author
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Buzzetti, Raffaella, Petrone, Antonio, Mesturino, A., Giorgi, G., Fiori, R., Nistico, L., Di Genova, G., and Cascino, I.
- Published
- 1999
23. CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population
- Author
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Petrone, A, Giorgi, G., Galgani, A, Alemanno, I, Corsello, Salvatore Maria, Signore, A, Di Mario, U, Nisticò, L, Cascino, I, Buzzetti, R., Corsello, Salvatore Maria (ORCID:0000-0002-4544-7274), Petrone, A, Giorgi, G., Galgani, A, Alemanno, I, Corsello, Salvatore Maria, Signore, A, Di Mario, U, Nisticò, L, Cascino, I, Buzzetti, R., and Corsello, Salvatore Maria (ORCID:0000-0002-4544-7274)
- Abstract
Graves' disease (GD) is an autoimmune and polygenic disorder. Several studies have shown that human leukocyte antigen (HLA) class II and the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene are involved in the genetic susceptibility. We performed a case control study on 150 patients with GD and 301 controls, matched for age and gender, to verify the association of three polymorphisms located in CTLA-4 region (A49G, [AT](n)-3'UTR, and CT60) and of HLA-DRB1 and DQB1 loci with the disease in an Italian population. The prevalence of patients with GD carrying the G allele of CT60 was significantly higher compared to control subjects (p = 0.02, odds ratio [OR] = 1.82). The allelic frequency of the G allele of CT60 was also significantly higher in patients with GD (p = 0.02). The G allele frequency of A49G in patients was significantly higher compared to control subjects (p = 0.04). The 280 allele phenotype frequency of (AT)(n)-3'UTR was also significantly higher in patients (p = 0.04). The G allele of A49G, the G allele of CT60, and the 280 allele of (AT)(n)-3'UTR microsatellite were significantly increased in patients with GD with thyroid-associated ophthalmopathy (TAO) compared to controls (p = 0.04, p = 0.03, and p = 0.02, respectively), however, we did not find any significant difference between TAO and non-TAO patients. We also found the HLA-DRB1*03 allele to be associated with GD; interestingly, the association of the CTLA-4 markers was independent from the HLA DRB1*03 status. These results highlight the role of the CTLA-4 locus, in addition to HLA, in the susceptibility to GD. Inside the CTLA-4 region, CT60 appears to be the most associated polymorphism to GD, however, further studies are needed to identify the etiologic variant.
- Published
- 2005
24. A mouse monoclonal antibody detecting the allospecificity HLA-A3
- Author
-
TRABACE, S., primary, MAZZILLI, M. C., additional, CASCINO, I., additional, LULLI, P., additional, PORRINI, S. COSTANZI, additional, and GANDINI, E., additional
- Published
- 2008
- Full Text
- View/download PDF
25. Probe-less genomic typing of Arg52 (type I diabetes-associated) and non Arg52 (non type I diabetes-associated) HLA-DQA1 alleles
- Author
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Sorrentino, Rosa, Costanzi, S, Cascino, I., and Tosi, R.
- Published
- 1992
26. An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro.
- Author
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Papoff, G, primary, Cascino, I, additional, Eramo, A, additional, Starace, G, additional, Lynch, D H, additional, and Ruberti, G, additional
- Published
- 1996
- Full Text
- View/download PDF
27. Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis.
- Author
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Cascino, I, primary, Papoff, G, additional, De Maria, R, additional, Testi, R, additional, and Ruberti, G, additional
- Published
- 1996
- Full Text
- View/download PDF
28. Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing.
- Author
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Cascino, I, primary, Fiucci, G, additional, Papoff, G, additional, and Ruberti, G, additional
- Published
- 1995
- Full Text
- View/download PDF
29. Gametic association of HSP70‐1 promoter region alleles and their inclusion in extended HLA haplotypes
- Author
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Cascino, I., primary, D'Alfonso, S., additional, Cappello, N., additional, Giordano, M., additional, Pugliese, A., additional, Awdeh, Z., additional, Alper, C. A., additional, and Richiardi, P. Momigliano, additional
- Published
- 1993
- Full Text
- View/download PDF
30. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B *2705 in Sardinia.
- Author
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Paladini, F., Cocco, E., Cauli, A., Cascino, I., Vacca, A., Belfiore, F., Fiorillo, M. T., Mathieu, A., and Sorrentino, R.
- Subjects
GENETIC polymorphisms ,PEPTIDES ,ANKYLOSING spondylitis ,MEDICAL genetics - Abstract
The association of HLA-B27 with ankylosing spondylitis (AS) is the strongest among all inflammatory diseases. However, the exact role of these molecules in disease pathogenesis is still unknown. The existence of HLA-B27 variants rarely found in patients introduces a further level of complexity. It is now accepted that other genes of minor impact contribute to modify disease susceptibility and these genes might be diverse in different populations depending on the genetic background. We report here a study performed in Sardinia, an outlier population in which two major HLA-B27 subtypes are present, B
* 2705 strongly associated with AS and B* 2709 which is not, and show the co-occurrence of the B* 2705 allele with a single nucleotide polymorphism (SNP) mapping at 3′-UTR of the receptor 1 (VIPR1) for the vasoactive intestinal peptide (VIP), a neuropeptide with anti-inflammatory properties. This same SNP is associated with a different kinetics of down-modulation of the VIPR1 mRNA in monocytes after exposure to lipopolysaccharide (P=0.004). This particular setting, HLA-B* 2705 and a functional polymorphism in VIPR1 gene, might be due to a founder effect or might be the result of a selective pressure. Irrespectively, the consequent downregulation of this receptor in the presence of a ‘danger’ signal might influence susceptibility to AS.Genes and Immunity (2008) 9, 659–667; doi:10.1038/gene.2008.60; published online 31 July 2008 [ABSTRACT FROM AUTHOR]- Published
- 2008
- Full Text
- View/download PDF
31. HLA-ABC and DR Antigens in Celiac Disease.
- Author
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Trabace, S., Giunta, A., Rosso, M., Marzorati, D., Cascino, I., Tettamanti, A., Mazzilli, M.C., and Gandini, E.
- Published
- 1984
- Full Text
- View/download PDF
32. A cytotoxic anti HLA-AB monoclonal antibody which in dilution becomes specific to HLA-A3 crossreacting group.
- Author
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Mazzilli, M. C., Cascino, I., Porrini, S. Costanzi, Lavaggi, M. V., Lulli, P., Morellini, M., Testa, L., and Gandini, E.
- Published
- 1984
- Full Text
- View/download PDF
33. A mouse monoclonal antibody detecting the allospecificity HLA-A3.
- Author
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TRABACE, S., MAZZILLI, M. C., CASCINO, I., LULLI, P., PORRINI, S. COSTANZI, and GANDINI, E.
- Published
- 1984
- Full Text
- View/download PDF
34. RELATIONSHIP BETWEEN DQα AND DQβ RFLP AND CELL SURFACE POLYMORPHISMS OF CLASS II HLA ANTIGENS.
- Author
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Cascino, I., Rosenshine, S., Turco, E., Marrari, M., Duquesnoy, R. J., and Trucco, M.
- Published
- 1986
- Full Text
- View/download PDF
35. 35th Annual Meeting of the European Association for the Study of Diabetes
- Author
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Melander, A., Olsson, J., Lindberg, G., Salzman, A., Howard, T., Stang, P., Lydick, E., Emslie-Smith, A., Boyle, D. I. R., Evans, J. M. M., Macdonald, T. M., Bain, J., Sullivan, F., Juhl, C., Pørksen, N., Sturis, J., Hollingdal, M., Pincus, S., Veldhuis, J., Dejgaard, A., Schmitz, O., Kristensen, J. S., Frandsen, K. B., Bayer, Th., Müller, P., Dunning, B. E., Paladini, S., Gutierrez, C., Deacon, R., Valentin, M., Grunberger, G., Weston, W. M., Patwardhan, R., Rappaport, E. B., Sargeant, L. A., Wareham, N. J., Khaw, K. T., Zethelius, Björn, Lithell, Hans, Hales, C. Nicholas, Berne, Christian, Lakka, H.-M., Oksanen, L., Tuomainen, T.-P., Kontula, K., Salonen, J. T., Dekker, J. M., de Boks, P., de Vegt, F., Stehouwer, C. D. A., Nijpels, G., Bouter, L. M., Heine, R. J., Bruno, G., Cavallo-Perin, P., Bargero, G., D’Errico, N., Borra, M., Macchia, G., Pagano, G., Newton, R. W., Ruta, D. A., New, J. P., Wallace, C., Roxburgh, M. A., Young, R. J., Vaughan, N. J. A., Elliott, P., Brennan, G., Devers, M., MacAlpine, R., Steinke, D., Lawson, D. H., Decallonne, B., Casteels, K., Gysemans, C., Bouillon, R., Mathieu, C., Linn, Thomas, Strate, Christine, Schneider, Kerstin, Funda, D. P., Jirsa, M., Kozáková, H., Kaas, A., Kofronová, O., Tlaskalová-Hogenová, H., Buschard, K., Wanka, H., Hartmann, A., Kuttler, B., Rasmussen, S. B., Sørensen, T. S., Markholst, H., Petersen, J. S., Karounos, D., Dyrberg, T., Mabley, J. G., Haskó, G., Szabó, C., Seissler, J., Nguyen, T. B. T., Steinbrenner, H., Scherbaum, W. A., Cipriani, R., Gabriele, A., Sensi, M., Guidobaldi, L., Pantellini, F., Cerrito, M. G., Scarpa, S., Di Mario, U., Morano, S., Ceolotto, G., Iori, E., Baritono, E., Del Prato, S., Semplicini, A., Trevisan, R., Zerbini, G., Meregalli, G., Asnaghi, V., Tentori, F., Maestroni, A., Mangili, R., Marescotti, C., Vedovato, M., Tiengo, A., Tadjieva, J., Mankovsky, B. N., Van Aken, S., Raes, A., Vande Walle, J., Matthys, D., Craen, M., Hansen, H. P., Lund, S. S., Rossing, P., Jensen, T., Parving, H.-H., Andersen, S., Tarnow, L., Hansen, B. V., Trautner, C., Haastert, B., Ennenbach, N., Willich, S., Tabák, Á. Gy., Orchard, T. J., Spranger, J., Preissner, K. T., Schatz, H., Pfeiffer, A., Cantón, A., Burgos, R., Hernández, C., Lecube, A., Mesa, J., Segura, R. M., Mateo, C., Simó, R., Fathallah, L., Greene, D. A., Obrosova, I., Gilbert, R. E., Kelly, D. J., Cox, A. J., Berka-Wilkinson, J. L., Taylor, H. R., Panagiotopoulos, S., Lee, V., Jerums, G., Cooper, M. E., Hitman, G. A., Aganna, E., Ogunkolade, W. B., Rema, M., Deepa, R., Shanthi-Rani, C. S., Barakat, K., Kumarajeewa, T. R., Cassell, P. G., McDermott, M. F., Mohan, V., Ways, K., Bursell, S., Devries, T., Woodworth, J., Alatorre, C., King, G., Aiello, L. P., Karisen, A. E., Pavlovic, D., Nielsen, K., Jensen, J., Andersen, H. U., Pociot, F., Mandrup-Poulsen, T., Eizirik, D. L., Nerup, J., Lortz, S., Tiedge, M., Lenzen, S., Lally, F. J., Bone, A. J., Darville, M. I., Ho, Y.-S., Sternesjö, J., Sandler, S., Chen, M.-C., Schuit, F., Pipeleers, D. G., Merezak, S., Hardikar, A., Hoet, J. J., Remacle, C., Reusens, B., Bréant, B., Garofano, A., Czernichow, P., Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Nakano, R., Komeda, K., Eto, K., Tobe, K., Kimura, S., Kadowaki, T., Ide, T., Murakami, K., Tsunoda, M., Mochizuki, T., Ozanne, S. E., Nave, B. T., Wang, C. L., Dorling, M. W., Petry, C. J., Koopmans, S. J., van der Bent, C., Que, I., Radder, J. K., Sebokova, E., Sana, A. K., Klimes, I., Ruderman, N., Morviducci, L., Pastore, L., Morelli, S., Sagratella, E., Zorretta, D., Buongiomo, A., Tamburrano, G., Giaccari, A., Martinenghi, Sabina, De Angelis, Gabriella Cusella, Ravasi, Flavio, Bifari, Francesco, Bordignon, Claudio, Falqui, Luca, Kessler, A., Dransfeld, O., Sasson, S., Tomas, E., Zorzano, A., Eckel, J., Thorsby, P., Rosenfalck, A. M., Kjems, L., Hanssen, K. F., Madsbad, S., Birkeland, K. I., Hamilton-Wessler, M., Markussen, J., Bergman, R. N., Melki, V., Hanaire-Broutin, H., Bessières-Lacombe, S., Tauber, J.-P., Home, P. D., Lindholm, A., Riis, A., Rosenstock, J., Schwartz, S., Clark, C., Edwards, M., Donley, D., Swift, P., Mortensen, H. B., Lynggaard, H., Hougaard, P., Cull, C. A., Neil, H. A. W., Frighi, V., Manley, S. E., Holman, R. R., Turner, R. C., Steiner, G., Davis, W. A., Weeraratna, T., Bruce, D. G., Davis, T. M. E., Vergès, B., Duvillard, L., Pont, F., Florentin, E., Gambert, Ph., Benko, B., Ljubić, S., Turk, Z., Granić, M., März, W., Wollschläger, H., Klein, G., Neiss, A., Wehling, M., Huxtable, S. J., Saker, P. J., Walker, M., Frayling, T. M., Levy, J. C., O’Rahilly, S., Hattersley, A. T., McCarthy, M. I., Orecchio, A., Giacchini, A., Dominici, R., Canettieri, G., Trinti, B., Zani, M., Andreoli, M., Sciacchitano, S., de Silva, A. M., Whitecross, K., Pasco, J., Kotowicz, M., Nicholson, G., Zimmet, P., Boyko, E. J., Collier, G. R., Frittitta, L., Pizzuti, A., Argiolas, A., Graci, S., Goldfine, I. D., Bozzali, M., Ercolino, T., Costanzo, B., Iacoviello, L., Tassi, V., Trischitta, V., Wauters, M., Rankinen, T., Mertens, I., Chagnon, M., Bouchard, C., Van Gaal, L., Sivenius, K., Valve, R., Hakkarainen, V., Niskanen, L., Laakso, M., Uusitupa, M., Beridze, N., Japaridze, M., Kurashvili, R., Dundua, M., Kebuladze, G., Kazakhashvili, N., Offley-Shore, B., Thomas, B., Ghebremeskel, K., Crawford, M., Lowy, C., Eriksson, Ulf J., Martin Simán, C., Wisse, Bert, Gittenberger-de Groot, Adriana C., Wentzel, P., Eriksson, U. J., Wender-Ożegowska, E., Drews, K., Biczysko, R., Bronisz, A., Rość, D., Graczykowska-Koczorowska, A., Kotschy, M., Sokup, A., Kohnert, K. D., Besch, W., Strese, J., Frick, U., Zander, E., Kemer, W., Škrha, J., Kvasnička, J., Kalvodová, B., Hilgertová, J., Schatteman, K., Goossens, F., Scharpé, S., De Leeuw, I., Hendriks, D., Legakis, I. N., Panayiotou, D., Mountokalakis, Th. D., Enderle, M. D., Beckmann, P., Balletshofer, B., Rittig, K., Maerker, E., Volk, A., Meisner, C., Jacob, S., Matthaei, S., Häring, H. U., Rett, K., Ueda, K., Nakagawa, T., Shimajiri, Y., Kokawa, M., Matsumoto, E., Sasaki, H., Sanke, T., Nanjo, K., McKinnon, Caroline M., Macfarlane, Wendy M., Docherty, Kevin, Furukawa, N., Shirotani, T., Kishikawa, H., Kaneko, K., Araki, E., Shichiri, M., Prentki, M., Roduit, R., Susini, S., Buteau, J., Ejrnæs, A. M., Andersen, N. Aa., Osterhoff, M., Möhlig, M., Ortmann, J., Bikashaghi, F., Mayer, C., Bikashagi, F., Ackermans, M. T., Pereira Arias, A. M., Bisschop, P. H. L. T., Endert, E., Sauerwein, H. P., Romijn, J. A., Gastaldelli, A., Baldi, S., Pettiti, M., Natali, A., Frascerra, S., Camastra, S., Toschi, E., Ferrannini, E., Stingl, H., Krssak, M., Bischof, M. G., Krebs, M., Fürnsinn, C., Nowotny, P., Waldhäusl, W., Roden, M., Neeft, M., Meijer, A. J., Båvenholm, P., Pigon, J., Efendic, S., Kästenbauer, T., Sauseng, S., Sokol, G., Auinger, M., Irsigler, K., Abbott, C. A., Carrington, A. L., Faragher, B., Kulkarni, J., Van Ross, E. R. E., Boulton, A. J. M., Armstrong, D. G., Hadi, S., Nguyen, H. C., Harkless, L. B., Jirkovská, A., Kasalicky, P., Hosová, J., Skibova, J., Uccioli, L., Caselli, A., Giacomozzi, C., Macellari, V., Giurato, L., Lardieri, L., Menzinger, G., Pham, H. T., Rosenblum, B. I., Lyons, T. E., Giurini, J. M., Smakowski, P., Chrzan, J. S., Habershaw, G. M., Veves, A., Foster, A. M., Bates, M., Doxford, M., Edmonds, M. E., Kecha, O., Winkler, R., Martens, H., Collette, J., Lefèbvre, P. J., Greiner, D., Geenen, V., Atlan-Gepner, C., Naspetti, M., Valéro, R., Barad, M., Lepault, F., Vialettes, B., Naquet, P., de Galan, B., Netea, M. G., Hancu, N., Smits, P., Van der Meer, J. W. M., Osterbye, T., Jørgensen, K. H., Tranum-Jensen, J., Fredman, P., Høy, M., Bokvist, K., Olsen, H. L., Horn, T., Gromada, J., Laub, R., Lohmann, T., Hahn, H. J., Adler, T., Emmrich, F., Rabuazzo, A. M., Lupi, R., Dotta, F., Patanè, G., Marselli, L., Realacci, M., Piro, S., Del Guerra, S., Santangelo, C., Navalesi, R., Purrello, F., Marchetti, P., de Vos, P., Visser, L., de Haan, B. J., Klok, P., van Schilfgaarde, R., Poppema, S., Juang, J.-H., Kuo, C.-H., Hsu, B. R.-S., Nacher, V., Pérez, M., Biarnés, M., Raurell, M., Soler, J., Montanya, E., Ritzel, R., Maubach, J., Büsing, M., Becker, T., Klempnauer, J., Hücking, K., Schmiegel, W. H., Nauck, M. A., Bouček, P., Saudek, F., Adamec, M., Kožitarová, R., Jedináková, T., Vlasáková, Z., Skibová, J., Bartoš, V., Maffi, P., Bertuzzi, F., Aldrighetti, L., Taglietti, M. V., Castelnuovo, A., Pozza, G., Di Carlo, V., Secchi, A., Renier, G., Mamputu, J.-C., Gillespie, J. S., McMaster, D., Mercer, C., Trimble, E. R., Lecomte, M., Véricel, E., Paget, C., Ruggiero, D., Lagarde, M., Wiernsperger, N., Pricci, F., Leto, G., Amadio, L., Cordone, S., Iacobini, C., Catalano, S., Violi, F., Rotella, C. M., Pugliese, G., Zicari, A., Gradini, R., Sale, P., Pala, L., Cresci, B., Giannini, S., Manuelli, C., Dahlfors, G., Arnqvist, H. J., Gonelle-Gispert, C., Halnan, P. A., Sadoul, K., Wolter, S., Lang, J., Niwa, T., Yu, W., Hidaka, H., Senda, T., Niki, I., Fukasawa, T., Renstrom, E., Barg, S., Seward, E., Rorsman, P., Rutter, G. A., Molinete, M., Lilla, V., Ravazzola, M., Halban, P. A., Efanov, A. M., Bertorello, A. M., Zaitsev, S. V., Zwiller, J., Berggren, P.-O., MŞengül, A., Salman, F., Sargrn, M., Özer, E., Karşidaǧ, K., Salman, S., Gedik, S., Satman, İ., Dinççaǧ, N., Yılmaz, M. T., Lloyd, A., Hopkinson, P. K., Testa, M. A., Blonde, L., Turner, R. R., Hayes, J., Simonson, D. C., van der Ven, N. C. W., Lubach, C. H. C., Snoek, F. J., Mollema, E. D., van der Ploeg, H. M., Danne, T., Hoey, H., McGee, H., Fitzgerald, H., Lernmark, B., Thernlund, G., Fredin, K., Hägglöf, B., Lugari, R., Dell’Anna, C., Ugolotti, D., Dei Cas, A., Barilli, A. L., Sard, L., Marani, B., Iotti, M., Zandomeneghi, R., Gnudi, A., Kjems, L. L., Volund, Aa., Toft-Nielsen, M., Damholt, M. B., Hilsted, L., Hughes, T. E., Krarup, T., Holst, J. J., Young, A., Gottlieb, A., Fineman, M., Kolterman, O., Cancelas, J., García-Martínez, J. A., Villanueva-Peñacarrillo, M. L., Valverde, I., Malaisse, W. J., Filipsson, K., Ahrén, B., Balkan, B., Kwasnik, L., Battle, B., Li, X., Egan, J. M., Clocquet, A. R., Elahi, D., Petrella, E., Pricket, K., Petersen, K. F., Sullivan, J. T., Amatruda, J. M., Livingston, J. N., Shulman, G. I., Freyse, E.-J., Knospe, S., Glund, K., Demuth, H.-U., Walker, D., Malik, R. A., Reljanovic, M., Barada, A., Milicevic, Z., Tack, Cees J., Goldstein, David S., Van Huysen, C., Stevens, M. J., Cao, X., Sundkvist, G., Dahlin, L.-B., Eriksson, K.-F., Rosén, I., Lattimer, S. A., Sima, A. A. F., Sullivan, K., Shaw, J. E., de Courten, M. P., Zimmet, P. Z., Gourdy, P., Ruidavets, J. B., Arveiler, D., Amouyel, Ph., Bingham, A., Tauber, J. P., Lam, K. S. L., Wat, N. M. S., Lam, T. H., Janus, E. D., de Pablos, P., Rodriguez, F., Martínez, J., Sánchez, V., Santana, C., García, I., Macías, A., Levin, K., Hother-Nielsen, O., Henriksen, J. E., Beck-Nielsen, H., Brechtel, K., Machann, J., Koch, M., Nielsen, M., Löblein, K., Becker, R., Denignger, M., Renn, W., Machicao, F., Claussen, C. D., Schick, F., Diraison, F., Moulin, P., Beylot, M., Thams, P., Capito, K., Eliasson, Lena, Barg, Sebastian, Göpel, Sven, Kanno, Takahiro, Renström, Erik, Meda, P., Charollais, A., Gjnovci, A., Calabrese, A., Wonkam, A., Caton, D., Wisznievski, L., Serre, V., Cogne, F., Bauquis, J., Bosco, D., Huarte, J., Herrera, P., Gotfredsen, C. 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S., Saponara, C., Tartaglione, T., Cercone, S., Caputo, S., Meloni, T., Brunetti, D., Di Lazzaro, V., Xu, G., Jiang, H. Y., Shy, M. E., Sugimoto, K., Zhang, W.-X., Kuchmerovskaya, T., Donchenko, G., Shymansky, I., Kuchmerovsky, N., Pakyrbaeva, L., Cameron, N. E., Keegan, A., Cotter, M. A., Mirrlees, D., Smale, S. E., Biessels, G. J., Duis, S. E. J., Kamal, A., Gispen, W. H., Carrington, A., Carman, S., Smiarowski, H., Lavoie, D., Sawicki, D., Sabetta, A., Litchfield, J., Van Zandt, M., Sredy, J., Smirnova, V., Strokov, I., Ivanova, L., Ichunina, A., Nakamura, J., Nakayama, M., Hamada, Y., Chaya, S., Kato, K., Kasuya, Y., Mizubayashi, R., Miwa, K., Yasuda, Y., Kamiya, H., Hotta, N., Bíró, K., Kukorelli, T., Szilágyi, N., Kürthy, M., Komáromy, A., Mogyorosi, T., Nagy, K., Çakir, M., Baskal, N., Güllü, S., Elhan, A. H., Erdogan, G., Ziegler, D., Piolot, R., Neubauer, J., Senesi, B., Bonetti, R., Napolitano, A., Canepa, F., Ottonello, P., Schabmann, A., Giménez-Pérez, G., Arroyo, J. A., López, T., Ponz, E., Mauricio, D., Diem, P., Zanchin, L., Suter, S. L., Lefrandt, J. D., Smit, A., van Roon, A. M., Dullaart, R., Voita, D., Mackevics, V., Vitols, A., Lengyel, Cs., Farkas, Gy., Török, T., Légrády, P., Várkonyi, T. T., Kardos, A., Gingl, Z., Kempler, P., Rudas, L., Lonovics, J., Marchand, M., Stevens, L. K., Tarnás, Gy., Estrella, F., Christensen, N. J., Keresztes, K., Barna, I., Hermányi, Zs., Vargha, P., Bonnevie, L., Chanudet, X., Larroque, P., Tutuncu, N. Bascil, Deger, A., Batur, M. K., Yildirir, A., Onalan, O., Aksöyek, S., Kabakçι, G., Erbaş, T., Galicka-Latała, D., Surdacki, A., Gerritsen, J., TenVoorde, B. J., Heethaar, R. M., Tagawa, T. S., Kodama, M., Yoshioka, R., Yamasaki, Y., Didangelos, T., Athyros, V., Kontopoulos, A., Papageorgiou, A., Karamitsos, D., Lacigová, S., Rušavý, Z., Kárová, R., Perrild, H., Kay, L., Jørgensen, T., Bień, A. I., Witek, P., Geraldes, Elizabete, Rodrigues, D., Pereira, L., Doménech, A., Leitão, P., Anagnostopoulos, D., Foster, A. V. M., Nag, S., Barsoum, M., Lewis, G., Dunlop, N., Connolly, V., Bilous, R., Kelly, W., Chantelau, E., Gede, A., Sharman, D., O’Halloran, D., Best, C., Abbas, Z. G., Lutale, J., Gill, G. V., Jarvis, W. R., Archibald, L. K., Corcoran, S., Mansell, J., Pibworth, L., Terada, H., Shiba, T., Utugi, N., Utugi, T., Blum, M., Strobel, J., Höffken, K., Razvi, F. M., Kritzinger, E. E., Taylor, K., Jones, S., Illahi, W., Grüβer, M., Hartmann, P., Hoffstadt, K., van Leiden, H. A., Moll, A. C., Polak, B. C. P., Pietragalla, G. B., Maurino, M., Montanaro, M., Karadeniz, Ş., Tommasini, P., Quadrini, C., Demiraj, V., Rispoli, E., Ota, A., Takama, H., Saito, N., Hemández, C., Lepore, D., Antico, L., Giardina, B., Franconi, F., Michoud, E., Chamot, S., Riva, Ch., Hammes, H.-P., Renner, O., Breier, G., Lin, J., Alt, A., Betzholtz, C., Bretzel, R. G., Manti, R., Gallo, M., Molinar Hin, A., Brignardello, E., Boccuzzi, G., Li, Shanfang, Xiang, Kunsan, Zhang, Rugeng, Shangguan, Xinhong, Wu, Jianrong, Donnan, P. T., Broomhall, J., Hunter, K., Morris, A. D., Ioannidis, G., Peppa, M., Rontogianni, E., Kallifronas, M., Lekatsas, I., Chrysanthopoulou, G., Anthopoulos, L., Kesse, M., Thalassinos, N., Neves, C., Medina, J. L., Lopes, F., Yılmaz, M., Güvener, N., Güvener, M., Kocagöz, T., Böke, E., Paşaoglu, I., Bascil Tutuncu, N., Oto, A., Karvonen, M. K., Koulu, M., Pesonen, U., Mercuri, M., Rauramaa, R., Rutter, M. K., Kestevan, P., McComb, J. M., Marshall, S. M., Sobieska, M., Wiktorowicz, K., Kanters, S. D. J. M., Banga, J. D., Algra, A., Frijns, C. J. M., Beutler, J. J., Fijnheer, R., Nicoloff, G., Baydanoff, S., Stanimirova, N., Petrova, Ch., Lario, S., Campistol, J. M., Cases, A., Clària, J., Iñigo, P., Esmatjcs, E., Sármán, B., Tóth, M., Kocsis, I., Somogyi, A., Bumbure, A., Jachimowicz, K., Samson, J., Tomasiak, M., Sobol, A., Stańczyk, L., Watala, C., Stradina, P., Wiśniewska-Jarosińska, M., Marciniak, D., Więcławska, B., Watała, C., Golański, J., Zinnat, R., Mahmud, I., Büyükasik, Yahya, Demiroğlu, H., Szczepanik, A., Skowroński, M., Murawska, A., Meeking, D. R., Allard, S., Munday, J., Chowienczyk, P., Shaw, K. M., Cummings, M. H., Šimková, R., Jirsa, M., Hadoke, P. W. F., McIntyre, C. A., Jones, G. C., Williams, B. C., Elliott, A. I., McKnight, J. A., Pernow, J., Bombonato, G. C., Finucci, G. F., Zotta, L., Senses, V., Ozyazgan, S., Ince, E., Tunçdemir, M., Oztürk, M., Sultuybek, G., Akkan, A. G., Özyazgan, S., Unlücerci, Y., Bekpınar, S., Meyer, M. F., Lee, B. C., Shore, A. C., Humphreys, J. M., Tooke, J. E., Dell’Omo, G., Giovannitti, G., Caricato, F., Mariani, M., Pedrinelli, R., Kiviet-Boehm, C., Schwelling, V., Matthäei, S., Pfohl, M., McInerney, D., Itoh, H., Ohno, T., Katoh, N., Baumgartner-Parzer, S., Artwohl, M., Graier, W., Ludwig, C., Tachi, Y., Bannai, C., Shinohara, M., Shimpuku, H., Ohura, K., Bertacca, A., Sasvári, M., Szaleczki, E., Pusztai, P., Boes, U., Klaus, E., Dittrich, P., Wagner, Z., Wittmann, I., Pótó, L., Wagner, L., Mazák, I., Nagy, J., Feletto, F., Taboga, C., Tonutti, L., Lizzio, S., Russo, A., Selmo, V., Ceriello, A., Lekakis, J., Papamichael, C. M., Stamatelopoulos, K., Stamatelopoulos, S., Yillar, D. O., Gay, M., Lillaz, E., Passaro, A., Vanini, A., Calzoni, F., D’Elia, K., Carantoni, M., Zuliani, G., Fellin, R., Solini, A., Chwatko, G., Bald, E., Dramais, A.-S., Wallemacq, P. E., Vandeleene, B., Ciaria, M. V., Ariano, M., Strom, R., Gibney, J., Weiss, U., Turner, B., O’Gorman, P., Watts, G., Powrie, J., Crook, M., Shaw, K., and Cummings, M.
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- 1999
- Full Text
- View/download PDF
36. HLA-A,B,C and DR antigens in Coeliac Disease. A study in paediatric Italian population
- Author
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Trabace, S, Giunta, A, Rosso, M, Marzorati, D, Cascino, I, Tettamanti, A, Mazzilli, Maria Cristina, and Gandini, E.
- Published
- 1984
37. Allelic forms of the alpha- and beta-chain genes encoding DQw1-positive heterodimers
- Author
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Care A, Cascino I, Massimo Trucco, Craig Robinson, Patricia Compagnone-Post, and Emilia Turco
- Subjects
Macromolecular Substances ,Immunology ,Genes, MHC Class II ,Molecular Sequence Data ,Human leukocyte antigen ,Biology ,HLA-DQ Antigens ,Genetics ,Humans ,Nucleotide ,Amino Acid Sequence ,Allele ,Cloning, Molecular ,Gene ,Alleles ,chemistry.chemical_classification ,HLA-D Antigens ,Base Sequence ,Haplotype ,DNA ,DNA Restriction Enzymes ,Molecular biology ,Phenotype ,Human genetics ,chemistry ,Genes ,Chromosomes, Human, Pair 6 ,Restriction fragment length polymorphism ,Polymorphism, Restriction Fragment Length - Abstract
On chromosome 6, in the HLA region, the DQ subregion is located immediately centromeric to the DR subregion. Even though only three serological specificities to date have been officially recognized (DQwl, DQw2, and DQw3), it seems likely that the phenotypical polymorphism expressed by DQ molecules is much more complex. There are reasons to believe that fixed alpha-beta combinations exist, each of them associated with a different DR allele. DQw1 is a determinant present on DQ molecules that are found associated with DRI-, DR2-, and DRw6-positive haplotypes. By restriction fragment length polymorphism analysis, we recognized three allelic DQ-alpha and three allelic DQ-beta patterns associated with DQw1 . In addition, one of these alpha/beta pairs associated with DR1, two with DR2, and a fourth with DRw6. We have obtained evidence using nucleotide sequencing that there are as many allelic forms of DQ-alpha and DQ-beta genes as there are different molecular DQ-alpha and DQ-beta patterns. The DQ-alpha and DQ-beta chains of DQwl-positive molecules each are encoded by at least three distinctly different allelic genes, and particular alpha/beta gene combinations are associated with the same DR alleles as their corresponding molecular alpha/beta pairs.
- Published
- 1987
38. A cytotoxic anti HLA-AB monoclonal antibody which in dilution becomes specific to HLA-A3 crossreacting group
- Author
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Mazzilli, Maria Cristina, Cascino, I, COSTANZI PORRINI, S, Lavaggi, Mv, Lulli, Patrizia, Testa, L, and Gandini, E.
- Published
- 1984
39. ST1 in two Italian families
- Author
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Trabace, S, Lulli, Patrizia, Cascino, I, Borelli, I, and Mazzilli, Maria Cristina
- Published
- 1980
40. Fas/Apo-1 (CD95) receptor lacking the intracytoplasmic signaling domain protects tumor cells from Fas-mediated apoptosis
- Author
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Cascino, I., Papoff, G., Ruggero De Maria, Testi, R., and Ruberti, G.
- Subjects
Adult ,Cytoplasm ,Fas Ligand Protein ,Membrane Glycoproteins ,Base Sequence ,Molecular Sequence Data ,Immunology ,Apoptosis ,Lymphoma, T-Cell ,Receptors, Tumor Necrosis Factor ,Tumor Cells, Cultured ,Humans ,Immunology and Allergy ,fas Receptor ,Cloning, Molecular ,Signal Transduction - Abstract
FAS/Apo-1 (CD95) is an apoptosis-signaling cell surface receptor belonging to the TNF receptor family. Tumor cells resistant to Fas-mediated apoptosis have been described, but to date, the mechanisms responsible for this resistance are not well understood. We found that a series of apoptosis-resistant clones from human HUT78 lymphoma cells express a splicing variant coding for a truncated Fas molecule that lacks the intracellular death-signaling domain. The mutation responsible for the FasExo8Del expression was identified as a deletion-insertion in the intron 7/exon 8 region of the Fas gene. Moreover this mutation affects the phenotype in a dominant negative fashion, i.e., even in the presence of the normal receptor.
41. Fas splicing variants and their effect on apoptosis
- Author
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Ruberti, G., Cascino, I., Papoff, G., and Adriana Eramo
42. Three functional soluble forms of the human apoptosis-inducing Fas molecule are produced by alternative splicing
- Author
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Cascino I, Fiucci G, GIULIANA PAPOFF, and Ruberti G
- Subjects
Adult ,Alternative Splicing ,DNA, Complementary ,Base Sequence ,Immunology ,Antigens, Surface ,Molecular Sequence Data ,Immunology and Allergy ,Humans ,Apoptosis ,Amino Acid Sequence ,RNA, Messenger ,fas Receptor - Abstract
Fas/Apo-1 molecule is an apoptosis-signaling cell surface Ag belonging to the TNFR family. To investigate the possibility that soluble forms of the Fas receptor are expressed in human cells, we analyzed Fas mRNA transcripts obtained from activated peripheral mononuclear cells of healthy donors and from human tumor cell lines. We identified and characterized three human mRNA Fas variants: FasTMDel, FasDel2, and FasDel3. To determine whether the three transcripts were derived by alternative splicing, the Fas genomic intron/exon organization of the regions surrounding the deleted sequences was analyzed in Fas clones isolated from a human genomic library. Expression of the transcripts was studied in COS cells transiently transfected with the FasTMDel, FasDel2, and FasDel3 cDNAs. Immunocytochemical and in vitro apoptosis inhibition studies suggest that the transcripts are expressed as soluble Fas proteins that may play a functional role in the regulation of apoptosis.
43. An N-terminal domain shared by Fas/Apo-1 (CD95) soluble variants prevents cell death in vitro
- Author
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Papoff G, Cascino I, Eramo A, Starace G, Dh, Lynch, and Giovina RUBERTI
- Subjects
Adult ,Base Sequence ,Immunology ,Molecular Sequence Data ,Gene Expression ,Apoptosis ,Alternative Splicing ,Solubility ,Leukocytes, Mononuclear ,Immunology and Allergy ,Humans ,Amino Acid Sequence ,RNA, Messenger ,fas Receptor ,Cells, Cultured - Abstract
Fas/Apo-1 molecule, also designated as CD95, is a member of the TNF receptor family. Fas cross-linking by its natural ligand or by agonistic mAbs results in rapid induction of apoptosis in susceptible cells. in addition to the Fas full-length mRNA, human activated PBMC and tumor cell lines express several mRNA Fas variants that derive from alternative splicing of the primary transcript. All five variants identified, two of which are newly described here, code for soluble proteins that, with the exception of FasTMDel, are truncated in the extracytoplasmic region and possess short C-terminal amino acid sequences corresponding to a different reading frame. We have identified Abs that recognize all splicing variants and established a sandwich ELISA by which the soluble Fas molecules could be detected in culture supernatants of transfected cell lines and in PBMC following T cell activation. Next, we have studied in detail the functional role of these variants by apoptosis inhibition studies. We found that all soluble proteins block the apoptosis induced by either an agonistic Ab or, more importantly, by the natural Fas ligand in Fas-positive sensitive cell lines. interestingly, this functional property can be assigned to the first 49 amino acids of the mature protein that is the only region shared by the five soluble Fas molecules.
44. IL12B polymorphism and type 1 diabetes in the Italian population: A case-control study
- Author
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Nisticò, L., Giorgi, G., Giordano, M., Galgani, A., Pétrone, A., D Alfonso, S., MASSIMO FEDERICI, Di Mario, U., Pozzilli, P., Buzzetti, R., and Cascino, I.
- Subjects
onset age ,Adult ,Male ,genetic epidemiology ,Settore MED/09 - Medicina Interna ,genetic association ,Adolescent ,phenotype ,genotype ,gene frequency ,genetic risk ,insulin dependent diabetes mellitus ,Genetic ,Risk Factors ,Diabetes Mellitus ,genetic polymorphism ,Humans ,controlled study ,Genetic Predisposition to Disease ,human ,Polymorphism ,Child ,Polymorphism, Genetic ,interleukin 12 ,allele ,article ,clinical feature ,disease course ,female ,genetic predisposition ,Italy ,major clinical study ,male ,priority journal ,risk assessment ,school child ,Case-Control Studies ,Diabetes Mellitus, Type 1 ,Female ,Gene Frequency ,Haplotypes ,Interleukin-12 ,Settore M-EDF/01 - Metodi e Didattiche delle Attivita' Motorie ,Type 1 - Abstract
A polymorphism in the interleukin 12B gene was recently reported to be strongly associated with type 1 diabetes in 422 Australian and British families. We analyzed the same polymorphism in 470 Italian type 1 diabetic patients and 544 matched control subjects and found no evidence of association with the disease.
45. 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999
- Author
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Melander, A., Olsson, J., Lindberg, G., Salzman, A., Howard, T., Stang, P., Lydick, E., Emslie-Smith, A., Boyle, D. I. R., Evans, J. M. M., Macdonald, T. M., Bain, J., Sullivan, F., Ad Darts Memo, Morris For The Collaboration, Juhl, C., Porksen, N., Sturis, J., Hollingdal, M., Pincus, S., Veldhuis, J., Dejgaard, A., Schmitz, O., Kristensen, J. S., Frandsen, K. B., Bayer, Th, Muller, P., Dunning, B. E., Paladini, S., Gutierrez, C., Deacon, R., Valentin, M., Grunberger, G., Weston, W. M., Patwardhan, R., Rappaport, E. B., Sargeant, L. A., Wareham, N. J., Khaw, K. T., Zethelius, Bjorn, Lithell, Hans, Hales, C. Nicholas, Berne, Christian, Lakka, H-M, Oksanen, L., Tuomainen, T-P, Kontula, K., Salonen, J. T., Dekker, J. M., Boks, P., Vegt, F., Stehouwer, C. D. A., Nijpels, G., Bouter, L. M., Heine, R. J., Bruno, G., Cavallo-Perin, P., Bargero, G., D Errico, N., Borra, M., Macchia, G., Pagano, G., Newton, R. W., Ruta, D. A., New, J. P., Wallace, C., Roxburgh, M. A., Young, R. J., Vaughan, N. J. A., Elliott, P., Brennan, G., Devers, M., Macalpine, R., Steinke, D., Lawson, D. H., Decallonne, B., Casteels, K., Gysemans, C., Bouillon, R., Mathieu, C., Linn, Thomas, Strate, Christine, Schneider, Kerstin, Funda, D. P., Jirsa, M. Jr, Kozakova, H., Kaas, A., Kofronova, O., Tlaskalova-Hogenova, H., Buschard, K., Wanka, H., Hartmann, A., Kuttler, B., Rasmussen, S. B., Sorensen, T. S., Markholst, H., Petersen, J. S., Karounos, D., Dyrberg, T., Mabley, J. G., Hasko, G., Szabo, C., Seissler, J., Nguyen, T. B. T., Steinbrenner, H., Scherbaum, W. A., Cipriani, R., Gabriele, A., Sensi, M., Guidobaldi, L., Pantellini, F., Cerrito, M. G., Scarpa, S., Di Mario, U., Morano, S., Ceolotto, G., Iori, E., Baritono, E., Del Prato, S., Semplicini, A., Trevisan, R., Zerbini, G., Meregalli, G., Asnaghi, V., Tentori, F., Maestroni, A., Mangili, R., Marescotti, C., Vedovato, M., Tiengo, A., Tadjieva, J., Mankovsky, B. N., Aken, S., Raes, A., Vande Walle, J., Matthys, D., Craen, M., Hansen, H. P., Lund, S. S., Rossing, P., Jensen, T., Parving, H-H, Genediab, Study Group, Andersen, S., Tarnow, L., Hansen, B. V., Trautner, C., Haastert, B., Ennenbach, N., Willich, S., Tabak, A. Gy, Orchard, T. J., Spranger, J., Preissner, K. T., Schatz, H., Pfeiffer, A., Canton, A., Burgos, R., Hernandez, C., Lecube, A., Mesa, J., Segura, R. M., Mateo, C., Simo, R., Fathallah, L., Greene, D. A., Obrosova, I., Gilbert, R. E., Kelly, D. J., Cox, A. J., Berka-Wilkinson, J. L., Taylor, H. R., Panagiotopoulos, S., Lee, V., Jerums, G., Cooper, M. E., Hitman, G. A., Aganna, E., Ogunkolade, W. B., Rema, M., Deepa, R., Shanthi-Rani, C. S., Barakat, K., Kumarajeewa, T. R., Cassell, P. G., Mcdermott, M. F., Mohan, V., Ways, K., Bursell, S., Devries, T., Woodworth, J., Alatorre, C., King, G., Aiello, L. P., Karisen, A. E., Pavlovic, D., Nielsen, K., Jensen, J., Andersen, H. U., Pociot, F., Mandrup-Poulsen, T., Eizirik, D. L., Nerup, J., Lortz, S., Tiedge, M., Lenzen, S., Lally, F. J., Bone, A. J., Darville, M. I., Ho, Y-S, Sternesjo, J., Sandler, S., Chen, M-C, Schuit, F., Pipeleers, D. G., Merezak, S., Hardikar, A., Hoet, J. J., Remacle, C., Reusens, B., Breant, B., Garofano, A., Czernichow, P., Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Nakano, R., Komeda, K., Eto, K., Tobe, K., Kimura, S., Kadowaki, T., Ide, T., Murakami, K., Tsunoda, M., Mochizuki, T., Ozanne, S. E., Nave, B. T., Wang, C. L., Dorling, M. W., Petry, C. J., Koopmans, S. J., Bent, C., Que, I., Radder, J. K., Sebokova, E., Sana, A. K., Klimes, I., Ruderman, N., Morviducci, L., Pastore, L., Morelli, S., Sagratella, E., Zorretta, D., Buongiomo, A., Tamburrano, G., Giaccari, A., Martinenghi, Sabina, Angelis, Gabriella Cusella, Ravasi, Flavio, Bifari, Francesco, Bordignon, Claudio, Falqui, Luca, Kessler, A., Dransfeld, O., Sasson, S., Tomas, E., Zorzano, A., Eckel, J., Thorsby, P., Rosenfalck, A. M., Kjems, L., Hanssen, K. F., Madsbad, S., Birkeland, K. I., Hamilton-Wessler, M., Markussen, J., Bergman, R. N., Melki, V., Hanaire-Broutin, H., Bessieres-Lacombe, S., Gedec, Study Group, Tauber, J-P, Home, P. D., Lindholm, A., Riis, A., European Insulin Aspart Study Group, Rosenstock, J., Schwartz, S., Clark, C., Edwards, M., Donley, D., Us Dm, Study Group Of Insulin Glargine In Type, Swift, P., Mortensen, H. B., Lynggaard, H., Hougaard, P., Hvidore Study group on Childhood Diabetes, Cull, C. A., Neil, H. A. W., Frighi, V., Manley, S. E., Holman, R. R., Turner, R. C., Ukpds, Group, Steiner, G., Dais, Project Group, Davis, W. A., Weeraratna, T., Bruce, D. G., Davis, T. M. E., Verges, B., Duvillard, L., Pont, F., Florentin, E., Gambert, Ph, Benko, B., Ljubic, S., Turk, Z., Granic, M., Marz, W., Wollschlager, H., Klein, G., Neiss, A., Wehling, M., Huxtable, S. J., Saker, P. J., Walker, M., Frayling, T. M., Levy, J. C., O Rahilly, S., Hattersley, A. T., Mccarthy, M. 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46. RELATIONSHIP BETWEEN DQ? AND DQ? RFLP AND CELL SURFACE POLYMORPHISMS OF CLASS II HLA ANTIGENS
- Author
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Cascino, I., primary, Rosenshine, S., additional, Turco, E., additional, Marrari, M., additional, Duquesnoy, R. J., additional, and Trucco, M., additional
- Published
- 1986
- Full Text
- View/download PDF
47. Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
- Author
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Teveroni E, Pellegrino M, Sacconi S, Calandra P, Cascino I, Farioli-Vecchioli S, Puma A, Garibaldi M, Morosetti R, Tasca G, Ricci E, Trevisan CP, Galluzzi G, Pontecorvi A, Crescenzi M, Deidda G, and Moretti F
- Subjects
- Cell Differentiation, Cells, Cultured, Estrogen Receptor beta metabolism, Gene Expression, Humans, Muscular Dystrophy, Facioscapulohumeral pathology, Protein Transport, Transcriptional Activation, Estradiol physiology, Estrogens physiology, Homeodomain Proteins metabolism, Muscular Dystrophy, Facioscapulohumeral metabolism, Myoblasts physiology
- Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers. The sex-related factors involved in the disease are not known. Here, we have utilized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect of estrogens on muscle properties. Our results demonstrated that estrogens counteract the differentiation impairment of FSHD myoblasts without affecting cell proliferation or survival. Estrogen effects are mediated by estrogen receptor β (ERβ), which reduces chromatin occupancy and transcriptional activity of double homeobox 4 (DUX4), a protein whose aberrant expression has been implicated in FSHD pathogenesis. During myoblast differentiation, we observed that the levels and activity of DUX4 increased progressively and were associated with its enhanced recruitment in the nucleus. ERβ interfered with this recruitment by relocalizing DUX4 in the cytoplasm. This work identifies estrogens as a potential disease modifier that underlie sex-related differences in FSHD by protecting against myoblast differentiation impairments in this disease.
- Published
- 2017
- Full Text
- View/download PDF
48. Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.
- Author
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Calandra P, Cascino I, Lemmers RJ, Galluzzi G, Teveroni E, Monforte M, Tasca G, Ricci E, Moretti F, van der Maarel SM, and Deidda G
- Subjects
- Epigenomics, Humans, Alleles, Chromosomes, Human, Pair 4, DNA Methylation, Muscle, Skeletal, Muscular Dystrophy, Facioscapulohumeral genetics
- Abstract
Background: Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polymorphic D4Z4 macrosatellite repeat array on chromosome 4q35. FSHD2 is caused by pathogenic mutations of the SMCHD1 gene.Both genetic defects lead to D4Z4 DNA hypomethylation. In the presence of a polymorphic polyadenylation signal (PAS), DNA hypomethylation leads to inappropriate expression of the D4Z4-encoded DUX4 transcription factor in skeletal muscle. Currently, hypomethylation is not diagnostic per se because of the interference of non-pathogenic arrays and the lack of information about the presence of DUX4-PAS., Methods: We investigated, by bisulfite sequencing, the DNA methylation levels of the region distal to the D4Z4 array selectively in PAS-positive alleles., Results: Comparison of FSHD1, FSHD2 and Control subjects showed a highly significant difference of methylation levels in all CpGs tested. Importantly, using a cohort of 112 samples, one of these CpGs (CpG6) is able to discriminate the affected individuals with a sensitivity of 0.95 supporting this assay potential for FSHD diagnosis. Moreover, our study showed a relationship between PAS-specific methylation and severity of the disease., Conclusions: These data point to the CpGs distal to the D4Z4 array as a critical region reflecting multiple factors affecting the epigenetics of FSHD. Additionally, methylation analysis of this region allows the establishment of a rapid and sensitive tool for FSHD diagnosis., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)
- Published
- 2016
- Full Text
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49. Gender-dependent association of type 2 diabetes with the vasoactive intestinal peptide receptor 1.
- Author
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Paladini F, Adinolfi V, Cocco E, Ciociola E, Tamburrano G, Cascino I, Lucantoni F, Morano S, and Sorrentino R
- Subjects
- Case-Control Studies, Female, Genotype, Humans, Male, Polymorphism, Single Nucleotide, Signal Transduction genetics, Diabetes Mellitus, Type 2 genetics, Receptors, Vasoactive Intestinal Polypeptide, Type I genetics, Sex Characteristics
- Abstract
Type 2 diabetes is characterized by an inadequate pancreatic beta-cell response to the progressive insulin resistance. Its pathogenesis is complex and has been connected with a state of preclinical chronic inflammation. Vasoactive intestinal peptide (VIP) and its receptors play a relevant role in the homeostasis of insulin secretion as well as in the control of inflammation. In particular, VIP receptor 1 (VPAC1) has been found to be down-modulated during inflammation, and to be associated with several diseases. The objective of this study was to compare the distribution of SNPs mapping in the VIP receptor 1 gene in cases with type 2 diabetes and matched controls. Seven hundred cases with type 2 diabetes (423 males and 277 females) and 830 random controls (419 males and 411 females) were analyzed for the distribution of three common SNPs mapping in the VPAC1 gene. The results show a significantly different genotype distribution of the SNP rs9677 in the 3'-UTR of VPAC1 in female cases with type 2 diabetes compared to gender-matched controls (ptrend=6×10(-4)). The rs9677 CC genotype confers the highest risk (OR: 2.1) and correlates with worse clinical parameters such as higher level of total cholesterol, higher LDL/HDL ratio and a higher HbA1c concentration. The genetic association reported here indicates that VIP/VPAC1 signaling can be a relevant pathway in the pathogenesis of type 2 diabetes in females suggesting that at least some aspects of the genetic predisposition to this disease can be gender-specific., (Copyright © 2011 Elsevier B.V. All rights reserved.)
- Published
- 2012
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50. HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.
- Author
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Paladini F, Belfiore F, Cocco E, Carcassi C, Cauli A, Vacca A, Fiorillo MT, Mathieu A, Cascino I, and Sorrentino R
- Subjects
- HLA-B27 Antigen genetics, HLA-C Antigens genetics, Humans, Italy, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, HLA-E Antigens, Genetic Predisposition to Disease genetics, HLA Antigens genetics, Histocompatibility Antigens Class I genetics, Spondylitis, Ankylosing genetics
- Abstract
Introduction: Ankylosing spondylitis (AS) is a severe, chronic inflammatory disease strongly associated with HLA-B27. The presence of additional HLA risk factors has been suggested by several studies. The aim of the current study is to assess the occurrence of an additional HLA susceptibility locus in the region between HLA-E and HLA-C in the Sardinian population., Methods: 200 random controls, 120 patients with AS and 175 HLA-B27 positive controls were genotyped for six single nucleotide polymorphisms (SNPs) spanning the HLA region between HLA-E and HLA-C loci previously shown to harbour an additional susceptibility locus for AS. Allele, genotype and haplotype frequencies were compared., Results: The data confirm our previous finding of a significant increase in patients with AS of allele A at SNP rs1264457 encoding for an Arg at the functional HLA-E polymorphism (Arg128/Gly128). This was due to a remarkable increase in the frequency of genotype A/A in patients vs HLA-B27-matched controls (51% vs 29%; P for trend: 5 x 10-5). Genotype distribution of three other SNPs mapping in genes (GNL1, PRR3 and ABCF-1) close to HLA-E and showing high LD with it, was also significantly skewed. Accordingly, haplotype distribution was also remarkably different. The frequency of the haplotype AAGA, is 42% in random controls, increases to 53% in the HLA-B27-positive controls, and reaches 68% in patients with AS (P values: 2 x 10-11 vs random and 3 x 10-4 vs HLA-B27 controls)., Conclusions: There is a strong association between the presence of a haplotype in genes mapping between HLA-E and HLA-C and AS due to an increase of homozygous markers in patients. The strongest association however, is with the HLA-E functional polymorphism rs1264457. Since HLA-E is the ligand for the NKG2A receptor, these data point to the natural killer (NK) activity as possible player in the pathogenesis of AS.
- Published
- 2009
- Full Text
- View/download PDF
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