MARRA, ROBERTA
MARRA, ROBERTA
Dipartimento di Medicina molecolare e Biotecnologie mediche
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
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.
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.
One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene
2023 Rosato, Barbara Eleni; Marra, Roberta; Del Giudice, Federica; Nostroso, Antonella; Gobbi, Simona; Bruschi, Barbara; Coccia, Paola; Monaco, Vittoria; Monti, Maria; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients
2024 Marra, Roberta; Nostroso, Antonella; Rosato, Barbara Eleni; Esposito, Federica Maria; D'Onofrio, Vanessa; Iscaro, Anthony; Gambale, Antonella; Bruschi, Barbara; Coccia, Paola; Poloni, Antonella; Unal, Sule; Romano, Alberto; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta
Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias
2024 Russo, Roberta; Iolascon, Achille; Andolfo, Immacolata; Marra, Roberta; Rosato, Barbara Eleni
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| 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 | |
| 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. | |
| 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. | |
| One gene, two opposite phenotypes: a case report of hereditary anemia due to a loss-of-function variant in the EPAS1 gene | 1.1 Articolo in rivista | 2023 | Rosato, Barbara Eleni; Marra, Roberta; Del Giudice, Federica; Nostroso, Antonella; Gobbi, Simona; Bruschi, Barbara; Coccia, Paola; Monaco, Vittoria; Monti, Maria; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta | |
| Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients | 1.1 Articolo in rivista | 2024 | Marra, Roberta; Nostroso, Antonella; Rosato, Barbara Eleni; Esposito, Federica Maria; D'Onofrio, Vanessa; Iscaro, Anthony; Gambale, Antonella; Bruschi, Barbara; Coccia, Paola; Poloni, Antonella; Unal, Sule; Romano, Alberto; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta | |
| Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias | 1.8 Articolo in rassegna (review) | 2024 | Russo, Roberta; Iolascon, Achille; Andolfo, Immacolata; Marra, Roberta; Rosato, Barbara Eleni |