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Journal Articles

Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress

Alessandro Mattè, Angelo D'Alessandro, Mariarita Bertoldi, Richard Huot Pozzetto, Giovanni Bisello, Andrea Mattarei, Alberto Ongaro, Alice Passarini, Angela Siciliano, Roberta Russo, Achille Iolascon, Carlo Brugnara, Lucia De Franceschi

Blood (2023) 142 (Supplement 1): 3850.

https://doi.org/10.1182/blood-2023-185681

Published: 2023

Journal Articles

Unraveling the Role of PIEZO1 in Stressed Erythropoiesis: Implications for Dyserythropoiesis and Potential Therapeutic Targets in Dehydrated Hereditary Stomatocytosis

Barbara Eleni Rosato, Vanessa D'Onofrio, Antonella Nostroso, Roberta Marra, Federica Maria Esposito, Maddalena Raia, Giuseppe D'Alterio, Mario Capasso, Lucia De Franceschi, Achille Iolascon, Roberta Russo, Immacolata Andolfo

Blood (2023) 142 (Supplement 1): 2446.

https://doi.org/10.1182/blood-2023-180833

Published: 2023

Journal Articles

PIEZO1 Mutation May Determine Early Onset of Clinical Manifestation of Anemia of Myelodysplastic Syndromes

Enrico Attardi, Immacolata Andolfo, Lucia Tiberi, Roberta Russo, Daniela Formicola, Alice Brogi, Marco Gabriele Raddi, Angela Consagra, Cristina Amato, Alessandro Sanna, Rosangela Artuso, Achille Iolascon, Valeria Santini

Blood (2021) 138 (Supplement 1): 1528.

https://doi.org/10.1182/blood-2021-149409

Published: 2021

Journal Articles

ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19

Pablo Velasco, Filomena Longo, Andrea Piolatto, Eduardo J. Bardón-Cancho, Beatriz Ponce-Salas, Pagona Flevari, Ersi Voskaridou, Bart J. Biemond, Erfan Nur, Polyxeni Delaporta, Tatiana Besse-Hammer, Anna Ruiz-Llobet, Simona Raso, Anna Spasiano, Maria Elena Guerzoni, David Beneitez-Pastor, Laurence Dedeken, Alessia Pepe, Rosamaria Rosso, Joachim B. Kunz, Mariane de Montalembert, Saveria Campisi, Andreas Glenthøj, Paula Gonzalez Urdiales, Fleur Samantha Benghiat, Marie-Agnès Azerad, Christopher J. Saunders, Teresa Ferreira Faria, Tommaso Casini, Sabrina Bagnato, Ann Van de Velde, Veerle Labarque, Elisa Bertoni, An Van Damme, Michael D. Diamantidis, Roberta Russo, Eftichia Stiakaki, Alessandra Quota, Soteroula Christou, Maria Jose Teles, Ioannis Lafiatis, Jean-Louis Kerkhoffs, María Argüello Marina, Mikael Lorite, Alexis Rodriguez, Achille Iolascon, Ali T. Taher, Raffaella Colombatti, Noemi Roy, Maria Del Mar Mañú Pereira

Blood (2021) 138 (Supplement 1): 4058.

https://doi.org/10.1182/blood-2021-147236

Published: 2021

Journal Articles

Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency

Anna Zaninoni, Roberta Russo, Roberta Marra, Elisa Fermo, Immacolata Andolfo, Anna Paola Marcello, Dario Consonni, Barbara Eleni Rosato, Stefania Martone, Bruno Fattizzo, Wilma Barcellini, Achille Iolascon, Paola Bianchi

Blood (2021) 138 (Supplement 1): 1993.

https://doi.org/10.1182/blood-2021-151635

Published: 2021

Journal Articles

Congenital dyserythropoietic anemias

Achille Iolascon, Immacolata Andolfo, Roberta Russo

Blood (2020) 136 (11): 1274–1283.

https://doi.org/10.1182/blood.2019000948

Published: 2020

Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Blood (2018) 132 (Supplement 1): 4936.

https://doi.org/10.1182/blood-2018-99-111609

Published: 2018

Journal Articles

Imatinib Protects Against Hypoxia/Reoxygenation Induced Lung and Kidney Injury in a Humanized Mouse Model for SCD

Alessandro Mattè, BSc,PhD, Enrica Federti, PhD, Antonio Rechiutti, Amtonella Panataleo, Roberta Russo, Francesco Turrini, MD PhD, Angela Siciliano, Pierre Louis Tharaux, MD PhD, Wassim El Nemer, PhD, Serge Cedrick, Anne Janin, PhD, Christophe Leboeuf, Wilson Babu, Achille Iolascon, MD PhD, Carlo Brugnara, MD, Lucia De Franceschi, MD

Blood (2018) 132 (Supplement 1): 725.

https://doi.org/10.1182/blood-2018-99-115832

Published: 2018

Journal Articles

Reprogramming Cell-Signaling By Delivering the Catalytic Domain of Ptpgr Ameliorates Anemia of β-Thalassemia

Alessandro Mattè, PhD, Elisabetta Beneduce, Michela Mirenda, PhD, Roberta Russo, Achille Iolascon, MD PhD, Antonella Pantaleo, PhD, Francesco Turrini, MD PhD, Angela Siciliano, Enrica Federti, PhD, Serge Cedrick, Anne Janin, PhD, Christophe Leboeuf, Carlo Laudanna, MD, Lucia De Franceschi, MD

Blood (2017) 130 (Supplement 1): 2219.

https://doi.org/10.1182/blood.V130.Suppl_1.2219.2219

Published: 2017

Journal Articles

Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II

Roberta Russo, Immacolata Andolfo, Francesco Manna, Gianluca De Rosa, Luigia De Falco, Antonella Gambale, Mariasole Bruno, Alessandro Mattè, Paolo Ricchi, Domenico Girelli, Lucia De Franceschi, Achille Iolascon

Blood (2016) 128 (14): 1899–1902.

https://doi.org/10.1182/blood-2016-06-724328

Published: 2016

Includes: Supplemental data

Journal Articles

Erfe-Encoding FAM132B in Congenital Dyserythropoietic Anemia Type II

Roberta Russo, Immacolata Andolfo, Luigia De Falco, Francesco Manna, Antonella Gambale, Mariasole Bruno, Gianluca De Rosa, Domenico Girelli, MD PhD, Lucia De Franceschi, MD, Achille Iolascon, MD PhD

Blood (2015) 126 (23): 535.

https://doi.org/10.1182/blood.V126.23.535.535

Published: 2015

Journal Articles

Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6

Immacolata Andolfo, Roberta Russo, Francesco Manna, Marica Lisa Salve, Alok K. Sharma, Seth L. Alper, Lucia De Franceschi, MD, Achille Iolascon, MD PhD

Blood (2015) 126 (23): 2132.

https://doi.org/10.1182/blood.V126.23.2132.2132

Published: 2015

Journal Articles

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Blood (2013) 121 (19): 3925–3935.

https://doi.org/10.1182/blood-2013-02-482489

Published: 2013

Includes: Supplemental data

Journal Articles

Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia

Immacolata Andolfo, Seth Alper, MD, PhD, Jean Delaunay, Carla Auriemma, Roberta Russo, Maria Rosaria Esposito, Alok K. Sharma, Boris E Shmukler, David H Vandorpe, Carlo Brugnara, M.D., Lucia De Franceschi, MD, Achille Iolascon, MD, PhD

Blood (2012) 120 (21): 3184.

https://doi.org/10.1182/blood.V120.21.3184.3184

Published: 2012

Journal Articles

In Vitro Characterization of R14W Mutation in SEC23B , the CDAII Causative Gene

Maria Rosaria Esposito, Roberta Russo, Annaelena Troiano, Immacolata Andolfo, Roberta Asci, Achille Iolascon, MD, PhD

Blood (2011) 118 (21): 2098.

https://doi.org/10.1182/blood.V118.21.2098.2098

Published: 2011

Journal Articles

Allelic Distribution Assessment of SEC23B Mutations In Cda II Patients From Italy: Towards the Identification of Possible Founder Mutations

Roberta Russo, Maria Rosaria Esposito, Antonella Gambale, Annaelena Troiano, Maria Luisa Serra, Ilaria De Maggio, Achille Iolascon

Blood (2010) 116 (21): 1005.

https://doi.org/10.1182/blood.V116.21.1005.1005

Published: 2010

Journal Articles

COPII Complex Characterization During Erythroid Differentiation and Its Involvement in CDAII Disease.

Roberta Russo, Maria Rosaria Esposito, Daniela Spano, Luigia De Falco, Roberta Asci, Carmelo Piscopo, Immacolata Andolfo, Achille Iolascon, MD, PhD

Blood (2009) 114 (22): 3009.

https://doi.org/10.1182/blood.V114.22.3009.3009

Published: 2009

Journal Articles

Regulation of DMT1 (non IRE isoform) by MicroRNA LET-7D

Immacolata Andolfo, Luigia De Falco, Roberta Asci, Roberta Russo, Simona Colucci, Massimo Zollo, Achille Iolascon, MD, PhD

Blood (2008) 112 (11): 416.

https://doi.org/10.1182/blood.V112.11.416.416

Published: 2008

NARROW

Mitapivat Treatment Increases β-Thalassemic Erythroblasts Energy Production and Responsiveness to Oxidative Stress

Unraveling the Role of PIEZO1 in Stressed Erythropoiesis: Implications for Dyserythropoiesis and Potential Therapeutic Targets in Dehydrated Hereditary Stomatocytosis

PIEZO1 Mutation May Determine Early Onset of Clinical Manifestation of Anemia of Myelodysplastic Syndromes

ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19

Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency

Congenital dyserythropoietic anemias

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Imatinib Protects Against Hypoxia/Reoxygenation Induced Lung and Kidney Injury in a Humanized Mouse Model for SCD

Reprogramming Cell-Signaling By Delivering the Catalytic Domain of Ptpgr Ameliorates Anemia of β-Thalassemia

Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II

Erfe-Encoding FAM132B in Congenital Dyserythropoietic Anemia Type II

Detection of Familial Pseudohyperkalemia Among Italian Blood Donors By Genetic Screening for the R276W Mutation in ABCB6

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

Missense Mutations in the ABCB6 Transporter Cause Dominant Familial Pseudohyperkalemia

In Vitro Characterization of R14W Mutation in SEC23B , the CDAII Causative Gene

Allelic Distribution Assessment of SEC23B Mutations In Cda II Patients From Italy: Towards the Identification of Possible Founder Mutations

COPII Complex Characterization During Erythroid Differentiation and Its Involvement in CDAII Disease.

Regulation of DMT1 (non IRE isoform) by MicroRNA LET-7D

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American Society of Hematology

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American Society of Hematology

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