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8 results on '"Staderini, L"'

1. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Author

Tricarico, R, Kasela, M, Mareni, C, Thompson, BA, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, De Angioletti, M, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, AB, Nystrom, M, Genuardi, M, Tricarico, R, Kasela, M, Mareni, C, Thompson, BA, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, De Angioletti, M, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, AB, Nystrom, M, and Genuardi, M

Abstract

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagnostic molecular testing. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed specific criteria for the interpretation of mismatch repair (MMR) gene variants. Here, we performed a systematic investigation of 24 MLH1 and MSH2 variants. The assessments were done by analyzing population frequency, segregation, tumor molecular characteristics, RNA effects, protein expression levels, and in vitro MMR activity. Classifications were confirmed for 15 variants and changed for three, and for the first time determined for six novel variants. Overall, based on our results, we propose the introduction of some refinements to the InSiGHT classification rules. The proposed changes have the advantage of homogenizing the InSIGHT interpretation criteria with those set out by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium for the BRCA1/BRCA2 genes. We also observed that the addition of only few clinical data was sufficient to obtain a more stable classification for variants considered as "likely pathogenic" or "likely nonpathogenic." This shows the importance of obtaining as many as possible points of evidence for variant interpretation, especially from the clinical setting.

Published
2017

2. Synthesis, characterization and study of the catalytic activity of supported gold nanoparticles for alkynes hydroamination

Author

Chiara Parise, Maria Cristina Cassani, Barbara Ballarin, Daniele Nanni, F. Bella, L. Botta, A. Buchicchio, R. Cucciniello, A. D'Urso, A. Erba, P. Franco, E. Lenci, G. Mazzone, A. Soldà, S. Staderini, L. Treggiani, D. Spinelli, Parise, Chiara, Cassani, MARIA CRISTINA, Ballarin, Barbara, and Nanni, Daniele

Subjects
gold nanoparticles, heterogeneous catalysis, magnetite, silica, hydroamination of alkynes
Abstract

Our research group has previously reported the preparation of different silica supported gold nanoparticles (AuNPs) catalytically active in the reduction of nitrophenol to aminophenol. [1, 2] Recently, the focus of our research has shifted towards continuous flow nanocatalysis and for applications in packed bed reactors we have anchored AuNPs on commercial micrometer oxide supports (SiO2, Al2O3, TiO2), previously modified by grafting of the organosilane [3-(2-propynylcarbamate)propyl]triethoxysilane (PPTEOS). After thorough characterization, the catalytic activity of these systems has been evaluated in the oxidation of a large variety of primary and secondary alcohols, both under batch and continuous flow conditions. [3] We now present the results in the field of the hydroamination of alkynes catalysed by Au/SiO2@Yne and the new, magnetically recoverable Au/Fe3O4@Yne catalyst. [1] S. Fazzini , D. Nanni , B. Ballarin , M. C. Cassani , M. Giorgetti , C. Maccato, A. Trapananti, G. Aquilanti, and S. I. Ahmed, J. Phys. Chem. C. 116 (2012) 25434−25443; M. Giorgetti, G. Aquilanti, B. Ballarin, M. Berrettoni, M. C. Cassani, S. Fazzini, D. Nanni, and D. Tonelli, Anal. Chem. 88 (2016) 6873-6880; [2] S. Fazzini, M. C. Cassani, B. Ballarin, E. Boanini, J. S. Girardon, A.S. Mamede, A. Mignani, and D. Nanni, J. Phys. Chem. C. 118 (2014) 24538-24547; M. C. Cassani, B. Ballarin, D. Barreca, E. Boanini, E. Bonansegna, G. Carraro, S. Fazzini, A. Mignani, D. Nanni, and D. Pinelli, RSC Adv. 6 (2016) 25780-25788. [3] B. Ballarin, D. Barreca, E. Boanini, M. C. Cassani, P. Dambruoso, A. Massi, A. Mignani, D. Nanni, C. Parise, and A. Zaghi, ACS Sus. Chem. Eng. 5 (2017) 4746-4756.

Published
2017

3. Bioinspired metal sites in four-helix bundle scaffolds

Author

M. Chino, L. Leone, F. Pirro, O. Maglio, F. Nastri, V. Pavone, A. Lombardi, Società Chimica Italiana, F. Bella, L. Botta, A. Buchicchio, R.Cucciniello,A. D' Urso, A. Erba, P. Franco, E. Lenci, G. Mazzone, A. Soldà, S. Staderini, L. Triggiani, and D. Spinelli, Chino, Marco, Leone, Linda, Pirro, Fabio, Maglio, Ornella, Nastri, Flavia, Pavone, Vincenzo, and Lombardi, Angelina

Subjects
metalloproteins, Four helix bundle, de novo design
Published
2017

5. IgY - electrochemical immunosensor based on nanoelectrodes ensembles

Author

GAETANI, CHIARA, UGO, PAOLO, MORETTO, LIGIA MARIA, Società Chimica Italiana, F. Bella, L. Botta, A. Buchicchio, R. Cucciniello, A. D’Urso, A. Erba, P. Franco, E. Lenci, G. Mazzone, M. Pavone, A. Soldà, S. Staderini, L. Triggiani, and D. Spinelli, Gaetani, Chiara, Ugo, Paolo, and Moretto, LIGIA MARIA

Subjects
IgY, immunoglobulin Y, electrochemical immunosensor, gold nanoelectrodes ensembles
Published
2016

6. Host-guest interaction as driving force for the synthesis of pillar[6]arenes with a close insight into the cyclization mechanism and the templating role of the guest molecules (Oral presentation)

Author

DA PIAN, Marta, Fabris, Fabrizio, Scarso, Alessandro, Società Chimica Italiana, F. Bella, L. Botta, A. Buchicchio, R. Cucciniello, A. D'Urso, A. Erba, P. Franco, E. Lenci, G. Mazzone, M. Pavone, A. Soldà, S. Staderini, L. Triggiani, and D. Spinelli, DA PIAN, Marta, Fabris, Fabrizio, and Scarso, Alessandro

Subjects
Pillararenese, reaction mechanism, host-guest, Pillararenese, reaction mechanism, host-guest
Published
2016

7. Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.

Author

Gerundino F, Giachini C, Contini E, Benelli M, Marseglia G, Giuliani C, Marin F, Nannetti G, Lisi E, Sbernini F, Periti E, Cordisco A, Colosi E, D'ambrosio V, Mazzi M, Rossi M, Staderini L, Minuti B, Pelo E, Cicatiello R, Maruotti GM, Sglavo G, Conti A, Frusconi S, Pescucci C, and Torricelli F

Subjects
Cell-Free System, Cohort Studies, Female, Humans, Infant, Newborn, Male, Pregnancy, Pregnancy Complications blood, Public Health, Sensitivity and Specificity, Statistics, Nonparametric, Aneuploidy, DNA blood, Down Syndrome blood, High-Throughput Nucleotide Sequencing methods, Prenatal Diagnosis methods
Abstract

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS)., Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 10 6 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated., Results: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads., Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study.

Published
2017
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8. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.

Author

Tricarico R, Kasela M, Mareni C, Thompson BA, Drouet A, Staderini L, Gorelli G, Crucianelli F, Ingrosso V, Kantelinen J, Papi L, De Angioletti M, Berardi M, Gaildrat P, Soukarieh O, Turchetti D, Martins A, Spurdle AB, Nyström M, and Genuardi M

Subjects
Alleles, Alternative Splicing, Biomarkers, Tumor, Chromosome Mapping, Databases, Genetic, Gene Frequency, Genetic Linkage, Genotype, Humans, Immunohistochemistry, Microsatellite Instability, Microsatellite Repeats, MutL Protein Homolog 1 metabolism, MutS Homolog 2 Protein metabolism, Mutation, Phenotype, Promoter Regions, Genetic, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, MutL Protein Homolog 1 genetics, MutS Homolog 2 Protein genetics
Abstract

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagnostic molecular testing. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed specific criteria for the interpretation of mismatch repair (MMR) gene variants. Here, we performed a systematic investigation of 24 MLH1 and MSH2 variants. The assessments were done by analyzing population frequency, segregation, tumor molecular characteristics, RNA effects, protein expression levels, and in vitro MMR activity. Classifications were confirmed for 15 variants and changed for three, and for the first time determined for six novel variants. Overall, based on our results, we propose the introduction of some refinements to the InSiGHT classification rules. The proposed changes have the advantage of homogenizing the InSIGHT interpretation criteria with those set out by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium for the BRCA1/BRCA2 genes. We also observed that the addition of only few clinical data was sufficient to obtain a more stable classification for variants considered as "likely pathogenic" or "likely nonpathogenic." This shows the importance of obtaining as many as possible points of evidence for variant interpretation, especially from the clinical setting., (© 2016 WILEY PERIODICALS, INC.)

Published
2017
Full Text
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