Search Results - "Sirchia, Silvia"

Dysfunction in IGF2R Pathway and Associated Perturbations in Autophagy and WNT Processes in Beckwith-Wiedemann Syndrome Cell Lines by Pileggi, Silvana, Colombo, Elisa A, Ancona, Silvia, Quadri, Roberto, Bernardelli, Clara, Colapietro, Patrizia, Taiana, Michela, Fontana, Laura, Miozzo, Monica, Lesma, Elena, Sirchia, Silvia M

“…Beckwith-Wiedemann Syndrome (BWS) is an imprinting disorder characterized by overgrowth, stemming from various genetic and epigenetic changes. This study…”
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Primary TSC2 -/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model by Bernardelli, Clara, Chiaramonte, Eloisa, Ancona, Silvia, Sirchia, Silvia M, Cerri, Amilcare, Lesma, Elena

“…Cutaneous lesions are one of the hallmarks of tuberous sclerosis complex (TSC), a genetic disease in which mTOR is hyperactivated due to the lack of hamartin…”
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Non-invasive biomarkers for sperm retrieval in non-obstructive patients: a comprehensive review by Fontana, Laura, Sirchia, Silvia M, Pesenti, Chiara, Colpi, Giovanni Maria, Miozzo, Monica R

“…Recent advancements in reproductive medicine have guided novel strategies for addressing male infertility, particularly in cases of non-obstructive azoospermia…”
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MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion by Fontana, Laura, Tabano, Silvia, Bonaparte, Eleonora, Marfia, Giovanni, Pesenti, Chiara, Falcone, Rossella, Augello, Claudia, Carlessi, Nicole, Silipigni, Rosamaria, Guerneri, Silvana, Campanella, Rolando, Caroli, Manuela, Maria Sirchia, Silvia, Bosari, Silvano, Miozzo, Monica

“…Several molecular markers drive diagnostic classification, prognostic stratification, and/or prediction of response to therapy in patients with gliomas. Among…”
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Role of epigenetics in human aging and longevity: genome-wide DNA methylation profile in centenarians and centenarians’ offspring by Gentilini, Davide, Mari, Daniela, Castaldi, Davide, Remondini, Daniel, Ogliari, Giulia, Ostan, Rita, Bucci, Laura, Sirchia, Silvia M., Tabano, Silvia, Cavagnini, Francesco, Monti, Daniela, Franceschi, Claudio, Di Blasio, Anna Maria, Vitale, Giovanni

“…The role of epigenetics in the modulation of longevity has not been studied in humans. To this aim, (1) we evaluated the DNA methylation from peripheral…”
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Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients by Rovina, Davide, La Vecchia, Marta, Cortesi, Alice, Fontana, Laura, Pesant, Matthieu, Maitz, Silvia, Tabano, Silvia, Bodega, Beatrice, Miozzo, Monica, Sirchia, Silvia M.

“…Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are imprinting-related disorders associated with genetic/epigenetic alterations of the…”
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Extensive Placental Methylation Profiling in Normal Pregnancies by Rondinone, Ornella, Murgia, Alessio, Costanza, Jole, Tabano, Silvia, Camanni, Margherita, Corsaro, Luigi, Fontana, Laura, Colapietro, Patrizia, Calzari, Luciano, Motta, Silvia, Santaniello, Carlo, Radaelli, Tatjana, Ferrazzi, Enrico, Bosari, Silvano, Gentilini, Davide, Sirchia, Silvia Maria, Miozzo, Monica

“…The placental methylation pattern is crucial for the regulation of genes involved in trophoblast invasion and placental development, both key events for fetal…”
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Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22 , 2136 by Rondinone, Ornella, Murgia, Alessio, Costanza, Jole, Tabano, Silvia, Camanni, Margherita, Corsaro, Luigi, Fontana, Laura, Colapietro, Patrizia, Calzari, Luciano, Motta, Silvia, Santaniello, Carlo, Radaelli, Tatjana, Ferrazzi, Enrico, Bosari, Silvano, Gentilini, Davide, Sirchia, Silvia Maria, Miozzo, Monica

“…In the original publication [...]…”
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Misbehaviour of XIST RNA in breast cancer cells by Sirchia, Silvia M, Tabano, Silvia, Monti, Laura, Recalcati, Maria P, Gariboldi, Manuela, Grati, Francesca R, Porta, Giovanni, Finelli, Palma, Radice, Paolo, Miozzo, Monica

“…A role of X chromosome inactivation process in the development of breast cancer have been suggested. In particular, the relationship between the breast cancer…”
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Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction by Tabano, Silvia, Colapietro, Patrizia, Cetin, Irene, Grati, Francesca R., Zanutto, Susanna, Mandò, Chiara, Antonazzo, Patrizio, Pileri, Paola, Rossella, Franca, Larizza, Lidia, Sirchia, Silvia M., Miozzo, Monica

“…Genomic imprinting, resulting in parent-of-origin-dependent gene expression, is mainly achieved by DNA methylation. IGF2 and H19, belonging to the same cluster…”
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A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins by Paganini, Leda, Hadi, Loubna A., Chetta, Massimiliano, Rovina, Davide, Fontana, Laura, Colapietro, Patrizia, Bonaparte, Eleonora, Pezzani, Lidia, Marchisio, Paola, Tabano, Silvia M., Costanza, Jole, Sirchia, Silvia M., Riboni, Laura, Milani, Donatella, Miozzo, Monica

“…X‐linked intellectual disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily…”
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DNA Methylation in the Diagnosis of Monogenic Diseases by Cerrato, Flavia, Sparago, Angela, Ariani, Francesca, Brugnoletti, Fulvia, Calzari, Luciano, Coppedè, Fabio, De Luca, Alessandro, Gervasini, Cristina, Giardina, Emiliano, Gurrieri, Fiorella, Lo Nigro, Cristiana, Merla, Giuseppe, Miozzo, Monica, Russo, Silvia, Sangiorgi, Eugenio, Sirchia, Silvia M, Squeo, Gabriella Maria, Tabano, Silvia, Tabolacci, Elisabetta, Torrente, Isabella, Genuardi, Maurizio, Neri, Giovanni, Riccio, Andrea

“…DNA methylation in the human genome is largely programmed and shaped by transcription factor binding and interaction between DNA methyltransferases and histone…”
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Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms by Salsano, Ettore, Tabano, Silvia, Sirchia, Silvia M, Colapietro, Patrizia, Castellotti, Barbara, Gellera, Cinzia, Rimoldi, Marco, Pensato, Viviana, Mariotti, Caterina, Pareyson, Davide, Miozzo, Monica, Uziel, Graziella

“…Approximately 20% of adrenoleukodystrophy (X-ALD) female carriers may develop clinical manifestations, typically consisting of progressive spastic gait,…”
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ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men by Pansa, Alessandra, Sirchia, Silvia M., Melis, Sara, Giacchetta, Daniela, Castiglioni, Mirco, Colapietro, Patrizia, Fiori, Stefano, Falcone, Rossella, Paganini, Leda, Bonaparte, Eleonora, Colpi, Giovanni, Miozzo, Monica, Tabano, Silvia

“…STUDY QUESTION Is the presence of ESX1 mRNA in seminal fluid (SF) an indicator of residual spermatogenesis in men with non-obstructive azoospermic (NOA)?…”
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Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis by Miozzo, Monica, Selmi, Carlo, Gentilin, Barbara, Grati, Francesca R., Sirchia, Silvia, Oertelt, Sabine, Zuin, Massimo, Gershwin, M. Eric, Podda, Mauro, Invernizzi, Pietro

“…Recent work has demonstrated enhanced X monosomy in women with primary biliary cirrhosis (PBC) as well as two other female‐predominant autoimmune diseases,…”
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DNA methylation and histone modifications modulate the β1,3 galactosyltransferase β3Gal-T5 native promoter in cancer cells by Caretti, Anna, Sirchia, Silvia M., Tabano, Silvia, Zulueta, Aida, Dall’Olio, Fabio, Trinchera, Marco

“…The native promoter of β1,3 galactosyltransferase β3Gal-T5 contributes to the expression of the enzyme and its oligosaccharide products, such as Lewis…”
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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes by Russo, Silvia, Calzari, Luciano, Mussa, Alessandro, Mainini, Ester, Cassina, Matteo, Di Candia, Stefania, Clementi, Maurizio, Guzzetti, Sara, Tabano, Silvia, Miozzo, Monica, Sirchia, Silvia, Finelli, Palma, Prontera, Paolo, Maitz, Silvia, Sorge, Giovanni, Calcagno, Annalisa, Maghnie, Mohamad, Divizia, Maria Teresa, Melis, Daniela, Manfredini, Emanuela, Ferrero, Giovanni Battista, Pecile, Vanna, Larizza, Lidia

“…Multiple (epi)genetic defects affecting the expression of the imprinted genes within the 11p15.5 chromosomal region underlie Silver-Russell (SRS) and…”
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TSC2 epigenetic defect in primary LAM cells. Evidence of an anchorage‐independent survival by Lesma, Elena, Ancona, Silvia, Sirchia, Silvia M., Orpianesi, Emanuela, Grande, Vera, Colapietro, Patrizia, Chiaramonte, Eloisa, Di Giulio, Anna Maria, Gorio, Alfredo

“…Tuberous sclerosis complex (TSC) is caused by mutations in TSC1 or TSC2 genes. Lymphangioleiomyomatosis (LAM) can be sporadic or associated with TSC and is…”
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Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance by Fontana, Laura, Tabano, Silvia, Maitz, Silvia, Colapietro, Patrizia, Garzia, Emanuele, Gerli, Alberto Giovanni, Sirchia, Silvia Maria, Miozzo, Monica

“…Beckwith-Wiedemann syndrome (BWS) is a clinically and genetically heterogeneous overgrowth disease. BWS is caused by (epi)genetic defects at the 11p15…”
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Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome by Calvello, Mariarosaria, Tabano, Silvia, Colapietro, Patrizia, Maitz, Silvia, Pansa, Alessandra, Augello, Claudia, Lalatta, Faustina, Gentilin, Barbara, Spreafico, Filippo, Calzari, Luciano, Perotti, Daniela, Larizza, Lidia, Russo, Silvia, Selicorni, Angelo, Sirchia, Silvia M, Miozzo, Monica

“…Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by overgrowth and predisposition to embryonal tumors. BWS is caused by various epigenetic…”
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