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7 results on '"Zaccagnino, Silvia"'

1. Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe

Author

Infection & Immunity, Child Health, Data Science & Biostatistiek, Pajouheshnia, Romin, Gini, Rosa, Gutierrez, Lia, Swertz, Morris A, Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H, Lassalle, Régis, Droz-Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, Middelkoop, Bas, Gembert, Karin, Sanchez-Saez, Francisco, Rodriguez-Bernal, Clara, Sanfélix-Gimeno, Gabriel, Hurtado, Isabel, Acosta, Manuel Barreiro de, Poblador-Plou, Beatriz, Carmona-Pírez, Jonás, Gimeno-Miguel, Antonio, Prados-Torres, Alexandra, Schultze, Anna, Jansen, Ella, Herings, Ron, Kuiper, Josine, Locatelli, Igor, Jazbar, Janja, Žerovnik, Špela, Kos, Mitja, Smit, Steven, Lind, Sirje, Metspalu, Andres, Simou, Stefania, Hedenmalm, Karin, Cochino, Ana, Alcini, Paolo, Kurz, Xavier, Perez-Gutthann, Susana, Infection & Immunity, Child Health, Data Science & Biostatistiek, Pajouheshnia, Romin, Gini, Rosa, Gutierrez, Lia, Swertz, Morris A, Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H, Lassalle, Régis, Droz-Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, Middelkoop, Bas, Gembert, Karin, Sanchez-Saez, Francisco, Rodriguez-Bernal, Clara, Sanfélix-Gimeno, Gabriel, Hurtado, Isabel, Acosta, Manuel Barreiro de, Poblador-Plou, Beatriz, Carmona-Pírez, Jonás, Gimeno-Miguel, Antonio, Prados-Torres, Alexandra, Schultze, Anna, Jansen, Ella, Herings, Ron, Kuiper, Josine, Locatelli, Igor, Jazbar, Janja, Žerovnik, Špela, Kos, Mitja, Smit, Steven, Lind, Sirje, Metspalu, Andres, Simou, Stefania, Hedenmalm, Karin, Cochino, Ana, Alcini, Paolo, Kurz, Xavier, and Perez-Gutthann, Susana

Published
2024

2. Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe

Author

Data Science & Biostatistiek, Child Health, Infection & Immunity, Gini, Rosa, Pajouheshnia, Romin, Gutierrez, Lia, Swertz, Morris A, Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H, Lassalle, Régis, Droz-Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, Middelkoop, Bas, Gembert, Karin, Sanchez-Saez, Francisco, Rodriguez-Bernal, Clara, Sanfélix-Gimeno, Gabriel, Hurtado, Isabel, Acosta, Manuel Barreiro de, Poblador-Plou, Beatriz, Carmona-Pírez, Jonás, Gimeno-Miguel, Antonio, Prados-Torres, Alexandra, Schultze, Anna, Jansen, Ella, Herings, Ron, Kuiper, Josine, Locatelli, Igor, Jazbar, Janja, Žerovnik, Špela, Kos, Mitja, Smit, Steven, Lind, Sirje, Metspalu, Andres, Simou, Stefania, Hedenmalm, Karin, Cochino, Ana, Alcini, Paolo, Kurz, Xavier, Perez-Gutthann, Susana, Data Science & Biostatistiek, Child Health, Infection & Immunity, Gini, Rosa, Pajouheshnia, Romin, Gutierrez, Lia, Swertz, Morris A, Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H, Lassalle, Régis, Droz-Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, Middelkoop, Bas, Gembert, Karin, Sanchez-Saez, Francisco, Rodriguez-Bernal, Clara, Sanfélix-Gimeno, Gabriel, Hurtado, Isabel, Acosta, Manuel Barreiro de, Poblador-Plou, Beatriz, Carmona-Pírez, Jonás, Gimeno-Miguel, Antonio, Prados-Torres, Alexandra, Schultze, Anna, Jansen, Ella, Herings, Ron, Kuiper, Josine, Locatelli, Igor, Jazbar, Janja, Žerovnik, Špela, Kos, Mitja, Smit, Steven, Lind, Sirje, Metspalu, Andres, Simou, Stefania, Hedenmalm, Karin, Cochino, Ana, Alcini, Paolo, Kurz, Xavier, and Perez-Gutthann, Susana

Published
2024

3. Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Lessons Learnt From the MINERVA Project in Europe.

Author

Gini, Rosa, Pajouheshnia, Romin, Gutierrez, Lia, Swertz, Morris A., Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H., Lassalle, Régis, Droz‐Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, and Middelkoop, Bas

Published
2024
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4. Metadata for Data dIscoverability aNd Study rEplicability in obseRVAtional Studies (MINERVA): Development and Pilot of a Metadata List and Catalogue in Europe.

Author

Pajouheshnia, Romin, Gini, Rosa, Gutierrez, Lia, Swertz, Morris A., Hyde, Eleanor, Sturkenboom, Miriam, Arana, Alejandro, Franzoni, Carla, Ehrenstein, Vera, Roberto, Giuseppe, Gil, Miguel, Maciá, Miguel Angel, Schäfer, Wiebke, Haug, Ulrike, Thurin, Nicolas H., Lassalle, Régis, Droz‐Perroteau, Cécile, Zaccagnino, Silvia, Busto, Maria Paula, and Middelkoop, Bas

Abstract

Purpose: Metadata for data dIscoverability aNd study rEplicability in obseRVAtional studies (MINERVA), a European Medicines Agency–funded project (EUPAS39322), defined a set of metadata to describe real‐world data sources (RWDSs) and piloted metadata collection in a prototype catalogue to assist investigators from data source discoverability through study conduct. Methods: A list of metadata was created from a review of existing metadata catalogues and recommendations, structured interviews, a stakeholder survey, and a technical workshop. The prototype was designed to comply with the FAIR principles (findable, accessible, interoperable, reusable), using MOLGENIS software. Metadata collection was piloted by 15 data access partners (DAPs) from across Europe. Results: A total of 442 metadata variables were defined in six domains: institutions (organizations connected to a data source); data banks (data collections sustained by an organization); data sources (collections of linkable data banks covering a common underlying population); studies; networks (of institutions); and common data models (CDMs). A total of 26 institutions were recorded in the prototype. Each DAP populated the metadata of one data source and its selected data banks. The number of data banks varied by data source; the most common data banks were hospital administrative records and pharmacy dispensation records (10 data sources each). Quantitative metadata were successfully extracted from three data sources conforming to different CDMs and entered into the prototype. Conclusions: A metadata list was finalized, a prototype was successfully populated, and a good practice guide was developed. Setting up and maintaining a metadata catalogue on RWDSs will require substantial effort to support discoverability of data sources and reproducibility of studies in Europe. [ABSTRACT FROM AUTHOR]

Published
2024
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5. A new cellular model to follow Friedreich's ataxia development in a time-resolved way

Author

Vannocci, Tommaso, Faggianelli, Nathalie, Zaccagnino, Silvia, della Rosa, Ilaria, Adinolfi, Salvatore, Pastore, Annalisa, Vannocci, Tommaso, Faggianelli, Nathalie, Zaccagnino, Silvia, Della Rosa, Ilaria, Adinolfi, Salvatore, and Pastore, Annalisa

Subjects
Genetics and Molecular Biology (all), Genetic model, Molecular Sequence Data, Neuroscience (miscellaneous), lcsh:Medicine, Medicine (miscellaneous), Clustered Regularly Interspaced Short Palindromic Repeat, Transfection, Biochemistry, Cellular model, Cell Line, Gene Knockout Techniques, HEK293 Cell, Genetic, Immunology and Microbiology (miscellaneous), Models, Zinc finger, Disease development, Frataxin, Genetic models, Zinc fingers, Base Sequence, Clustered Regularly Interspaced Short Palindromic Repeats, DNA, Disease Progression, Friedreich Ataxia, Genetic Engineering, HEK293 Cells, Humans, Iron-Binding Proteins, Models, Genetic, Biochemistry, Genetics and Molecular Biology (all), lcsh:Pathology, Iron-Binding Protein, lcsh:R, Gene Knockout Technique, Research Article, lcsh:RB1-214, Human, Model
Abstract

Friedreich's ataxia (FRDA) is a recessive autosomal ataxia caused by reduced levels of frataxin (FXN), an essential mitochondrial protein that is highly conserved from bacteria to primates. The exact role of frataxin and its primary function remain unclear although this information would be very valuable to design a therapeutic approach for FRDA. A main difficulty encountered so far has been that of establishing a clear temporal relationship between the different observations that could allow a distinction between causes and secondary effects, and provide a clear link between aging and disease development. To approach this problem, we developed a cellular model in which we can switch off/on in a time-controlled way the frataxin gene partially mimicking what happens in the disease. We exploited the TALEN and CRISPR methodologies to engineer a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease and is a valuable tool for following the phenotype with different newly acquired markers., Summary: This paper describes the development of a new cellular model to study the neurodegenerative Friedreich's ataxia based on the use and development of new CRISPR and TALEN platforms.

Published
2015

7. Minerva: Metadata for data discoverability and study replicability in observational studies

Author

Gutierrez, Lia, Gini, Rosa, Pajouheshnia, Romin, Hyde, Eleanor, Swertz, Morris A., Sturkenboom, Miriam, Margulis, Andrea, Franzoni, Carla, Arana, Alejandro, Ehrenstein, Vera, Gembert, Karin, Jansen, Ella, Herings, Ron, Thurin, Nicolas H., Locatelli, Igor, Jazbar, Janja, Zerovnik, Spela, Kos, Mitja, Smit, Steven, Lind, Sirje, Metspalu, Andres, Zaccagnino, Silvia, Busto, Maria Paula, Middelkoop, Bas, Barreiro-De Acosta, Manuel, Sanchez-Saez, Francisco, Rodriguez-Bernal, Clara, Gabriel Sanfélix-Gimeno, Poblador-Plou, Beatriz, Carmona-Pirez, Jonas, Gimeno-Miguel, Antonio, Gil, Miguel, Schaefer, Wiebke, Haug, Ulrike, Simou, Stefania, Quinten, Chantal, Cochino, Ana, Alcini, Paolo, Kurz, Xavier, and Perez-Gutthann, Susana

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