8 Works
Additional file 2 of Genomic data integration and user-defined sample-set extraction for population variant analysis
Tommaso Alfonsi, Anna Bernasconi, Arif Canakoglu & Marco Masseroli
Additional file 2. Example of transformed metadata: In this .xlsx (MS Excel) file, we list all the output metadata categories generated for each sample from the transformation of the 1KGP input datasets. The output metadata include information collected from all the four 1KGP metadata files considered. Some categories are not reported in the source metadata files—they are identified by the label manually_curated__...—and were added by the developed pipeline to store technical details (e.g., download date,...
Childhood adversity, symptoms, and cortisol in first episode psychosis: a cross-sectional, secondary, observational analysis of a subsample of FEP patients
Giovanni Mansueto, Sarah Tosato, Natascia Brondino, Chiara Bonetto, Simona Tomassi, Pierluigi Politi, Antonio Lasalvia, Giulia Fioravanti, Silvia Casale, Katia De Santi, Mariaelena Bertani, Marcella Bellani, Paolo Brambilla, Mirella Ruggeri & Carlo Faravelli
Although it has been proposed that childhood adversities (CAs) may affect the hypothalamic-pituitary-adrenal (HPA) axis activity and psychotic symptoms severity, these associations have not been fully confirmed in first-episode psychosis (FEP). This study explored the association between CA, cortisol and psychotic symptoms in FEP patients. 81 FEP patients were enrolled. CAs were evaluated by the Childhood Experience of Care and Abuse Questionnaire and a semi-structured interview. Psychotic symptoms were evaluated by the Positive and Negative...
Additional file 1 of Genomic data integration and user-defined sample-set extraction for population variant analysis
Tommaso Alfonsi, Anna Bernasconi, Arif Canakoglu & Marco Masseroli
Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xlsx (MS Excel) spreadsheet exemplifies the transformation of the original 1KGP mutations—expressed in VCF format—into GDM genomic regions. As a demonstrative example, some variants about chromosome X have been selected from the source data (in VCF format) and listed in the first table at the top of the file. The values of columns #CHROM, POS, REF and ALT appear...
Childhood adversity, symptoms, and cortisol in first episode psychosis: a cross-sectional, secondary, observational analysis of a subsample of FEP patients
Giovanni Mansueto, Sarah Tosato, Natascia Brondino, Chiara Bonetto, Simona Tomassi, Pierluigi Politi, Antonio Lasalvia, Giulia Fioravanti, Silvia Casale, Katia De Santi, Mariaelena Bertani, Marcella Bellani, Paolo Brambilla, Mirella Ruggeri & Carlo Faravelli
Although it has been proposed that childhood adversities (CAs) may affect the hypothalamic-pituitary-adrenal (HPA) axis activity and psychotic symptoms severity, these associations have not been fully confirmed in first-episode psychosis (FEP). This study explored the association between CA, cortisol and psychotic symptoms in FEP patients. 81 FEP patients were enrolled. CAs were evaluated by the Childhood Experience of Care and Abuse Questionnaire and a semi-structured interview. Psychotic symptoms were evaluated by the Positive and Negative...
V-ATPase controls tumor growth and autophagy in a Drosophila model of gliomagenesis
Miriam Formica, Alessandra Maria Storaci, Irene Bertolini, Francesca Carminati, Helene Knævelsrud, Valentina Vaira & Thomas Vaccari
Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). To understand the role of autophagy in the pathogenesis of glial tumors in vivo, we used an established Drosophila melanogaster model of glioma based on overexpression in larval glial cells of an active human EGFR and of the PI3K homolog Pi3K92E/Dp110. Interestingly, the resulting hyperplastic glia express high levels of key...
Additional file 2 of Genomic data integration and user-defined sample-set extraction for population variant analysis
Tommaso Alfonsi, Anna Bernasconi, Arif Canakoglu & Marco Masseroli
Additional file 2. Example of transformed metadata: In this .xlsx (MS Excel) file, we list all the output metadata categories generated for each sample from the transformation of the 1KGP input datasets. The output metadata include information collected from all the four 1KGP metadata files considered. Some categories are not reported in the source metadata files—they are identified by the label manually_curated__...—and were added by the developed pipeline to store technical details (e.g., download date,...
V-ATPase controls tumor growth and autophagy in a Drosophila model of gliomagenesis
Miriam Formica, Alessandra Maria Storaci, Irene Bertolini, Francesca Carminati, Helene Knævelsrud, Valentina Vaira & Thomas Vaccari
Glioblastoma (GBM), a very aggressive and incurable tumor, often results from constitutive activation of EGFR (epidermal growth factor receptor) and of phosphoinositide 3-kinase (PI3K). To understand the role of autophagy in the pathogenesis of glial tumors in vivo, we used an established Drosophila melanogaster model of glioma based on overexpression in larval glial cells of an active human EGFR and of the PI3K homolog Pi3K92E/Dp110. Interestingly, the resulting hyperplastic glia express high levels of key...
Additional file 1 of Genomic data integration and user-defined sample-set extraction for population variant analysis
Tommaso Alfonsi, Anna Bernasconi, Arif Canakoglu & Marco Masseroli
Additional file 1. Example of translation from VCF into GDM format for genomic region data: This .xlsx (MS Excel) spreadsheet exemplifies the transformation of the original 1KGP mutations—expressed in VCF format—into GDM genomic regions. As a demonstrative example, some variants about chromosome X have been selected from the source data (in VCF format) and listed in the first table at the top of the file. The values of columns #CHROM, POS, REF and ALT appear...