ROSATO, BARBARA ELENI
ROSATO, BARBARA ELENI
DIPARTIMENTO DI MEDICINA MOLECOLARE E BIOTECNOLOGIE MEDICHE
Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma
2020 Andolfo, Immacolata; Lasorsa, Vito A; Manna, Francesco; Rosato, Barbara E; Formicola, Daniela; Iolascon, Achille; Capasso, Mario
Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein
2019 Russo, Roberta; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A.
The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant
2019 Andolfo, Immacolata; Rosato, BARBARA ELENI; Marra, Roberta; De Rosa, G.; Manna, F.; Gambale, A.; Iolascon, A.; Russo, Roberta
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
2019 Andolfo, Immacolata; De Rosa, Gianluca; Errichiello, Edoardo; Manna, Francesco; Rosato, Barbara Eleni; Gambale, Antonella; Vetro, Annalisa; Calcaterra, Valeria; Pelizzo, Gloria; De Franceschi, Lucia; Zuffardi, Orsetta; Russo, Roberta; Iolascon, Achille
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients
2018 Andolfo, Immacolata; Russo, Roberta; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Brugnara, Carlo; Iolascon, Achille
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis
2018 Andolfo, Immacolata; Manna, Francesco; De Rosa, Gianluca; Rosato, Barbara Eleni; Gambale, Antonella; Tomaiuolo, Giovanna; Carciati, Antonio; Marra, Roberta; De Franceschi, Lucia; Iolascon, Achille; Russo, Roberta
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias
2018 Russo, Roberta; Andolfo, Immacolata; Manna, Francesco; Gambale, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Caforio, Paola; Pinto, Valeria; Pignataro, Piero; Radhakrishnan, Kottayam; Unal, Sule; Tomaiuolo, Giovanna; Forni, Gian Luca; Iolascon, Achille
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway
2020 Andolfo, I.; Rosato, B. E.; Manna, F.; De Rosa, G.; Marra, R.; Gambale, A.; Girelli, D.; Russo, R.; Iolascon, A.
Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway
2020 De Rosa, G.; Andolfo, I.; Marra, R.; Manna, F.; Rosato, B. E.; Iolascon, A.; Russo, R.
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene
2020 Russo, R.; Marra, R.; Andolfo, I.; Manna, F.; De Rosa, G.; Rosato, B. E.; Radhakrishnan, K.; Fahey, M.; Iolascon, A.
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621)
2020 Russo, R.; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A.
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias
2020 Russo, R.; Marra, R.; Rosato, B. E.; Iolascon, A.; Andolfo, I.
Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19
2021 Cantalupo, S.; Lasorsa, V. A.; Russo, R.; Andolfo, I.; D'Alterio, G.; Rosato, B. E.; Frisso, G.; Abete, P.; Cassese, G. M.; Servillo, G.; Gentile, I.; Piscopo, C.; Monica, M. D.; Fiorentino, G.; Russo, G.; Cerino, P.; Buonerba, C.; Pierri, B.; Zollo, M.; Iolascon, A.; Capasso, M.
Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19
2021 Andolfo, Immacolata; Russo, Roberta; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Rosato, Barbara Eleni; Bonfiglio, Ferdinando; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Esposito, Gabriella; Gentile, Ivan; Piscopo, Carmelo; Villani, Romolo; Fiorentino, Giuseppe; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario
Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients
2021 Andolfo, I.; Martone, S.; Rosato, B. E.; Marra, R.; Gambale, A.; Forni, G. L.; Pinto, V.; Goransson, M.; Papadopoulou, V.; Gavillet, M.; Elalfy, M.; Panarelli, A.; Tomaiuolo, G.; Iolascon, A.; Russo, R.
SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells
2022 Rosato, B. E.; Marra, R.; D'Onofrio, V.; Giudice, F. D.; Monica, S. D.; Iolascon, A.; Andolfo, I.; Russo, R.
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals
2022 D'Alterio, Giuseppe; Lasorsa, Vito Alessandro; Bonfiglio, Ferdinando; Cantalupo, Sueva; Rosato, Barbara Eleni; Andolfo, Immacolata; Russo, Roberta; Esposito, Umberto; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Gentile, Ivan; Piscopo, Carmelo; Della Monica, Matteo; Fiorentino, Giuseppe; Boccia, Angelo; Paolella, Giovanni; Ferrucci, Veronica; de Antonellis, Pasqualino; Siciliano, Roberto; Asadzadeh, Fathem; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge
2022 Rosato, B. E.; Alper, S. L.; Tomaiuolo, G.; Russo, R.; Iolascon, A.; Andolfo, I.
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants
2022 Martone, Stefania; Buonagura, Autilia Tommasina; Marra, Roberta; Rosato, Barbara Eleni; Del Giudice, Federica; Bonfiglio, Ferdinando; Capasso, Mario; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta
PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes
2023 Attardi, Enrico; Andolfo, Immacolata; Russo, Roberta; Tiberi, Lucia; Raddi, Marco Gabriele; Rosato, Barbara Eleni; Marra, Roberta; Formicola, Daniela; Del Giudice, Federica; Brogi, Alice; Consagra, Angela; Amato, Cristina; Sanna, Alessandro; Artuso, Rosangela; Iolascon, Achille; Santini, Valeria
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma | 1.1 Articolo in rivista | 2020 | Andolfo, Immacolata; Lasorsa, Vito A; Manna, Francesco; Rosato, Barbara E; Formicola, Daniela; Iolascon, Achille; Capasso, Mario | |
| Characterization of two cases of congenital dyserythropoietic anemia type I shed light on the uncharacterized C15orf41 protein | 1.1 Articolo in rivista | 2019 | Russo, Roberta; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A. | |
| The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant | 1.1 Articolo in rivista | 2019 | Andolfo, Immacolata; Rosato, BARBARA ELENI; Marra, Roberta; De Rosa, G.; Manna, F.; Gambale, A.; Iolascon, A.; Russo, Roberta | |
| PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells | 1.1 Articolo in rivista | 2019 | Andolfo, Immacolata; De Rosa, Gianluca; Errichiello, Edoardo; Manna, Francesco; Rosato, Barbara Eleni; Gambale, Antonella; Vetro, Annalisa; Calcaterra, Valeria; Pelizzo, Gloria; De Franceschi, Lucia; Zuffardi, Orsetta; Russo, Roberta; Iolascon, Achille | |
| Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients | 1.1 Articolo in rivista | 2018 | Andolfo, Immacolata; Russo, Roberta; Rosato, Barbara Eleni; Manna, Francesco; Gambale, Antonella; Brugnara, Carlo; Iolascon, Achille | |
| PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis | 1.1 Articolo in rivista | 2018 | Andolfo, Immacolata; Manna, Francesco; De Rosa, Gianluca; Rosato, Barbara Eleni; Gambale, Antonella; Tomaiuolo, Giovanna; Carciati, Antonio; Marra, Roberta; De Franceschi, Lucia; Iolascon, Achille; Russo, Roberta | |
| Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias | 1.1 Articolo in rivista | 2018 | Russo, Roberta; Andolfo, Immacolata; Manna, Francesco; Gambale, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Caforio, Paola; Pinto, Valeria; Pignataro, Piero; Radhakrishnan, Kottayam; Unal, Sule; Tomaiuolo, Giovanna; Forni, Gian Luca; Iolascon, Achille | |
| Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway | 1.1 Articolo in rivista | 2020 | Andolfo, I.; Rosato, B. E.; Manna, F.; De Rosa, G.; Marra, R.; Gambale, A.; Girelli, D.; Russo, R.; Iolascon, A. | |
| Rap-011 rescues the disease phenotype in a cellular model of congenital dyserythropoietic anemia type ii by inhibiting the smad2-3 pathway | 1.1 Articolo in rivista | 2020 | De Rosa, G.; Andolfo, I.; Marra, R.; Manna, F.; Rosato, B. E.; Iolascon, A.; Russo, R. | |
| Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene | 1.1 Articolo in rivista | 2020 | Russo, R.; Marra, R.; Andolfo, I.; Manna, F.; De Rosa, G.; Rosato, B. E.; Radhakrishnan, K.; Fahey, M.; Iolascon, A. | |
| Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein (Frontiers in Physiology, (2019), 10, 10.3389/fphys.2019.00621) | 1.7 Commento, erratum, replica e simili | 2020 | Russo, R.; Marra, R.; Andolfo, I.; De Rosa, G.; Rosato, B. E.; Manna, F.; Gambale, A.; Raia, M.; Unal, S.; Barella, S.; Iolascon, A. | |
| Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias | 1.1 Articolo in rivista | 2020 | Russo, R.; Marra, R.; Rosato, B. E.; Iolascon, A.; Andolfo, I. | |
| Regulatory noncoding and predicted pathogenic coding variants of ccr5 predispose to severe covid-19 | 1.1 Articolo in rivista | 2021 | Cantalupo, S.; Lasorsa, V. A.; Russo, R.; Andolfo, I.; D'Alterio, G.; Rosato, B. E.; Frisso, G.; Abete, P.; Cassese, G. M.; Servillo, G.; Gentile, I.; Piscopo, C.; Monica, M. D.; Fiorentino, G.; Russo, G.; Cerino, P.; Buonerba, C.; Pierri, B.; Zollo, M.; Iolascon, A.; Capasso, M. | |
| Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19 | 1.1 Articolo in rivista | 2021 | Andolfo, Immacolata; Russo, Roberta; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Rosato, Barbara Eleni; Bonfiglio, Ferdinando; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Esposito, Gabriella; Gentile, Ivan; Piscopo, Carmelo; Villani, Romolo; Fiorentino, Giuseppe; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario | |
| Complex modes of inheritance in hereditary red blood cell disorders: A case series study of 155 patients | 1.1 Articolo in rivista | 2021 | Andolfo, I.; Martone, S.; Rosato, B. E.; Marra, R.; Gambale, A.; Forni, G. L.; Pinto, V.; Goransson, M.; Papadopoulou, V.; Gavillet, M.; Elalfy, M.; Panarelli, A.; Tomaiuolo, G.; Iolascon, A.; Russo, R. | |
| SEC23B Loss-of-Function Suppresses Hepcidin Expression by Imparing Glycosylation Pathway in Human Hepatic Cells | 1.1 Articolo in rivista | 2022 | Rosato, B. E.; Marra, R.; D'Onofrio, V.; Giudice, F. D.; Monica, S. D.; Iolascon, A.; Andolfo, I.; Russo, R. | |
| Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals | 1.1 Articolo in rivista | 2022 | D'Alterio, Giuseppe; Lasorsa, Vito Alessandro; Bonfiglio, Ferdinando; Cantalupo, Sueva; Rosato, Barbara Eleni; Andolfo, Immacolata; Russo, Roberta; Esposito, Umberto; Frisso, Giulia; Abete, Pasquale; Cassese, Gian Marco; Servillo, Giuseppe; Gentile, Ivan; Piscopo, Carmelo; Della Monica, Matteo; Fiorentino, Giuseppe; Boccia, Angelo; Paolella, Giovanni; Ferrucci, Veronica; de Antonellis, Pasqualino; Siciliano, Roberto; Asadzadeh, Fathem; Cerino, Pellegrino; Buonerba, Carlo; Pierri, Biancamaria; Zollo, Massimo; Iolascon, Achille; Capasso, Mario | |
| Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge | 1.1 Articolo in rivista | 2022 | Rosato, B. E.; Alper, S. L.; Tomaiuolo, G.; Russo, R.; Iolascon, A.; Andolfo, I. | |
| Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants | 1.1 Articolo in rivista | 2022 | Martone, Stefania; Buonagura, Autilia Tommasina; Marra, Roberta; Rosato, Barbara Eleni; Del Giudice, Federica; Bonfiglio, Ferdinando; Capasso, Mario; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta | |
| PIEZO1 mutations impact on early clinical manifestations of myelodysplastic syndromes | 1.1 Articolo in rivista | 2023 | Attardi, Enrico; Andolfo, Immacolata; Russo, Roberta; Tiberi, Lucia; Raddi, Marco Gabriele; Rosato, Barbara Eleni; Marra, Roberta; Formicola, Daniela; Del Giudice, Federica; Brogi, Alice; Consagra, Angela; Amato, Cristina; Sanna, Alessandro; Artuso, Rosangela; Iolascon, Achille; Santini, Valeria |