DE ROSA, GIANLUCA
DE ROSA, GIANLUCA
Dipartimento di Medicina molecolare e Biotecnologie mediche
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis)
2015 Andolfo, Immacolata; Russo, Roberta; Manna, Francesco; Shmukler, Boris E; Gambale, Antonella; Vitiello, Giuseppina; DE ROSA, Gianluca; Brugnara, Carlo; Alper, Seth L; Snyder, L. Michael; Iolascon, Achille
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
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II
2017 Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; DE ROSA, Gianluca; Manna, Francesco; Arillo, Alessandra; Wandroo, Farooq; Bisconte, Maria Grazia; 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
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.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis) | 1.1 Articolo in rivista | 2015 | Andolfo, Immacolata; Russo, Roberta; Manna, Francesco; Shmukler, Boris E; Gambale, Antonella; Vitiello, Giuseppina; DE ROSA, Gianluca; Brugnara, Carlo; Alper, Seth L; Snyder, L. Michael; Iolascon, Achille | |
| 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 | |
| GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of Congenital Dyserythropoietic Anemia type II | 1.1 Articolo in rivista | 2017 | Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; DE ROSA, Gianluca; Manna, Francesco; Arillo, Alessandra; Wandroo, Farooq; Bisconte, Maria Grazia; 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 | |
| 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. |