Search Results - "Silvia, Crasto"

The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype by Crasto, Silvia, My, Ilaria, Di Pasquale, Elisa

“…Mutations of Lamin A/C gene ( LMNA ) cause laminopathies, a group of disorders associated with a wide spectrum of clinically distinct phenotypes, affecting…”
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The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy by Salvarani, Nicolò, Crasto, Silvia, Miragoli, Michele, Bertero, Alessandro, Paulis, Marianna, Kunderfranco, Paolo, Serio, Simone, Forni, Alberto, Lucarelli, Carla, Dal Ferro, Matteo, Larcher, Veronica, Sinagra, Gianfranco, Vezzoni, Paolo, Murry, Charles E., Faggian, Giuseppe, Condorelli, Gianluigi, Di Pasquale, Elisa

“…Mutations in LMNA , which encodes the nuclear proteins Lamin A/C, can cause cardiomyopathy and conduction disorders. Here, we employ induced pluripotent stem…”
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Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells by Salvarani, Nicolò, Peretto, Giovanni, Silvia, Crasto, Villatore, Andrea, Thairi, Cecilia, Santoni, Anna, Galli, Camilla, Carrera, Paola, Sala, Simone, Benedetti, Sara, Di Pasquale, Elisa, Di Resta, Chiara

“…Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy. Pathogenic rare mutations in the gene, encoding the alpha-subunit of the…”
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Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations by Le Dour, Caroline, Chatzifrangkeskou, Maria, Macquart, Coline, Magiera, Maria M., Peccate, Cécile, Jouve, Charlène, Virtanen, Laura, Heliö, Tiina, Aalto-Setälä, Katriina, Crasto, Silvia, Cadot, Bruno, Cardoso, Déborah, Mougenot, Nathalie, Adesse, Daniel, Di Pasquale, Elisa, Hulot, Jean-Sébastien, Taimen, Pekka, Janke, Carsten, Muchir, Antoine

“…Mutations in the lamin A/C gene ( LMNA ) cause dilated cardiomyopathy associated with increased activity of ERK1/2 in the heart. We recently showed that ERK1/2…”
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation by Chatzifrangkeskou, Maria, Yadin, David, Marais, Thibaut, Chardonnet, Solenne, Cohen-Tannoudji, Mathilde, Mougenot, Nathalie, Schmitt, Alain, Crasto, Silvia, Di Pasquale, Elisa, Macquart, Coline, Tanguy, Yannick, Jebeniani, Imen, Pucéat, Michel, Morales Rodriguez, Blanca, Goldmann, Wolfgang H, Dal Ferro, Matteo, Biferi, Maria-Grazia, Knaus, Petra, Bonne, Gisèle, Worman, Howard J, Muchir, Antoine

“…Abstract Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations in the…”
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Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics by Crasto, Silvia, Di Pasquale, Elisa

“…Laminopathies are a group of rare degenerative disorders that manifest with a wide spectrum of clinical phenotypes, including both systemic multi-organ…”
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Nongenetic Optical Modulation of Pluripotent Stem Cells Derived Cardiomyocytes Function in the Red Spectral Range by Ronchi, Carlotta, Galli, Camilla, Tullii, Gabriele, Marzuoli, Camilla, Mazzola, Marta, Malferrari, Marco, Crasto, Silvia, Rapino, Stefania, Di Pasquale, Elisa, Antognazza, Maria Rosa

“…Optical stimulation in the red/near infrared range recently gained increasing interest, as a not‐invasive tool to control cardiac cell activity and repair in…”
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Optical modulation of excitation-contraction coupling in human-induced pluripotent stem cell-derived cardiomyocytes by Vurro, Vito, Federici, Beatrice, Ronchi, Carlotta, Florindi, Chiara, Sesti, Valentina, Crasto, Silvia, Maniezzi, Claudia, Galli, Camilla, Antognazza, Maria Rosa, Bertarelli, Chiara, Di Pasquale, Elisa, Lanzani, Guglielmo, Lodola, Francesco

“…Non-genetic photostimulation is a novel and rapidly growing multidisciplinary field that aims to induce light-sensitivity in living systems by exploiting…”
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Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery–Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249Gln by Perepelina, Kseniya, Kostina, Aleksandra, Klauzen, Polina, Khudiakov, Aleksandr, Rabino, Martina, Crasto, Silvia, Zlotina, Anna, Fomicheva, Yulia, Sergushichev, Alexey, Oganesian, Mari, Dmitriev, Alexander, Kostareva, Anna, Di Pasquale, Elisa, Malashicheva, Anna

“…Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy…”
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Divergent Transcription of the Nkx2-5 Locus Generates Two Enhancer RNAs with Opposing Functions by Salamon, Irene, Serio, Simone, Bianco, Simona, Pagiatakis, Christina, Crasto, Silvia, Chiariello, Andrea M., Conte, Mattia, Cattaneo, Paola, Fiorillo, Luca, Felicetta, Arianna, di Pasquale, Elisa, Kunderfranco, Paolo, Nicodemi, Mario, Papait, Roberto, Condorelli, Gianluigi

“…Enhancer RNAs (eRNAs) are a subset of long noncoding RNA generated from genomic enhancers: they are thought to act as potent promoters of the expression of…”
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Wnt signalling mediates miR-133a nuclear re-localization for the transcriptional control of Dnmt3b in cardiac cells by Di Mauro, Vittoria, Crasto, Silvia, Colombo, Federico Simone, Di Pasquale, Elisa, Catalucci, Daniele

“…MiR-133a is a muscle-enriched miRNA, which plays a key role for proper skeletal and cardiac muscle function via regulation of transduction cascades, including…”
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Red light-absorbing conjugated polymer optically modulates Ca2+ dynamics in cardiomyocytes derived from human induced pluripotent stem cells by Ronchi, Carlotta, Mazzola, Marta, Galli, Camilla, Tulli, Gabriele, Crasto, Silvia, Marzuoli, Camilla, Di Pasquale, Elisa, Antognazza, Maria Rosa

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Optical Pacing of Human‐Induced Pluripotent Stem Cell‐Derived Cardiomyocytes Mediated by a Conjugated Polymer Interface by Lodola, Francesco, Vurro, Vito, Crasto, Silvia, Di Pasquale, Elisa, Lanzani, Guglielmo

“…The use of light for triggering skeletal and cardiac muscles allows lower invasiveness higher selectivity and unprecedented possibility to target individual…”
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Functional Characterisation of the Rare ISCN5A/I p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells by Salvarani, Nicolò, Peretto, Giovanni, Silvia, Crasto, Villatore, Andrea, Thairi, Cecilia, Santoni, Anna, Galli, Camilla, Carrera, Paola, Sala, Simone, Benedetti, Sara, Di Pasquale, Elisa, Di Resta, Chiara

“…Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy. Pathogenic rare mutations in the SCN5A gene, encoding the alpha-subunit of the…”
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Induced Pluripotent Stem Cells Technology for Investigating Familial Dilated Cardiomyopathy Due to Lamin A/C Mutations by Crasto, Silvia

“…Mutations of LMNA gene, encoding the proteins Lamin A and C, are common causes of familial dilated cardiomyopathy (DCM), typically manifesting in association…”
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Investigation of mechanisms of contractile dysfunctions due to LMNA mutations in a iPSC-based cardiac model of laminopathy by Crasto, Silvia, Mazzola, Marta, Salvarani, Nicolò, Kunderfranco, Paolo, Ferro, Matteo Dal, Miragoli, Michele, Paulis, Marianna, Lucarelli, Carla, Faggian, Giuseppe, Condorelli, Gianluigi, Di Pasquale, Elisa

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Abstract 11: Lamin A/C Mutations Epigenetically Dysregulate Scn5a Gene Expression, Perturbing Action Potential Properties in IPSC-derived Cardiomyocytes by Crasto, Silvia, Salvarani, Nicolò, Miragoli, Michele, Paulis, Marianna, Kunderfranco, Paolo, Carullo, Pierluigi, Forni, Alberto, Faggian, Giuseppe, Condorelli, Gianluigi, Di Pasquale, Elisa

“…Abstract only Mutations of the LMNA gene, encoding the nuclear lamina proteins Lamin A/C, are a common cause of dilated cardiomyopathy, typically manifesting…”
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Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation by Chatzifrangkeskou, Maria, Yadin, David, Marais, Thibaut, Chardonnet, Solenne, Cohen-Tannoudji, Mathilde, Mougenot, Nathalie, Schmitt, Alain, Crasto, Silvia, Di Pasquale, Elisa, Macquart, Coline, Tanguy, Yannick, Jebeniani, Imen, Pucéat, Michel, Morales Rodriguez, Blanca, Goldmann, Wolfgang, Dal Ferro, Matteo, Biferi, Maria-Grazia, Knaus, Petra, Bonne, Gisèle, Worman, Howard, Muchir, Antoine

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Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells by Salvarani, Nicolò, Peretto, Giovanni, Silvia, Crasto, Villatore, Andrea, Thairi, Cecilia, Santoni, Anna, Galli, Camilla, Carrera, Paola, Sala, Simone, Benedetti, Sara, Di Pasquale, Elisa, Di Resta, Chiara

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