Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Barbara Eleni Rosato, Barbara Eleni Rosato, Achille Iolascon, Achille Iolascon, Immacolata Andolfo, Immacolata Andolfo
Published 2020-12-01

Genetic Analysis of the Coronavirus SARS-CoV-2 Host Protease TMPRSS2 in Different Populations

by Roberta Russo, Roberta Russo, Immacolata Andolfo, Immacolata Andolfo, Vito Alessandro Lasorsa, Vito Alessandro Lasorsa, Achille Iolascon, Achille Iolascon, Mario Capasso, Mario Capasso
Published 2020-08-01

A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature

by Daniele Zama, Giulia Giulietti, Edoardo Muratore, Immacolata Andolfo, Roberta Russo, Achille Iolascon, Andrea Pession
Published 2020-07-01

CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia

by Cristian Tornador, Cristian Tornador, Edgar Sánchez-Prados, Beatriz Cadenas, Beatriz Cadenas, Beatriz Cadenas, Roberta Russo, Roberta Russo, Veronica Venturi, Immacolata Andolfo, Immacolata Andolfo, Ines Hernández-Rodriguez, Achille Iolascon, Achille Iolascon, Mayka Sánchez, Mayka Sánchez
Published 2019-09-01

RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway

by Gianluca De Rosa, Immacolata Andolfo, Roberta Marra, Francesco Manna, Barbara Eleni Rosato, Achille Iolascon, Roberta Russo
Published 2020-08-01

Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Barbara Eleni Rosato, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon, Achille Iolascon
Published 2020-08-01

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein

by Roberta Russo, Roberta Russo, Roberta Marra, Roberta Marra, Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Barbara Eleni Rosato, Barbara Eleni Rosato, Francesco Manna, Antonella Gambale, Antonella Gambale, Maddalena Raia, Sule Unal, Susanna Barella, Achille Iolascon, Achille Iolascon
Published 2019-05-01

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

by Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca
Published 2021-12-01

PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells

by Immacolata Andolfo, Immacolata Andolfo, Gianluca De Rosa, Gianluca De Rosa, Edoardo Errichiello, Francesco Manna, Francesco Manna, Barbara Eleni Rosato, Barbara Eleni Rosato, Antonella Gambale, Antonella Gambale, Annalisa Vetro, Valeria Calcaterra, Gloria Pelizzo, Lucia De Franceschi, Orsetta Zuffardi, Roberta Russo, Roberta Russo, Achille Iolascon, Achille Iolascon
Published 2019-03-01

Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M

by Radhakrishnan Gnanasambandam, Alicia Rivera, David H. Vandorpe, Boris E. Shmukler, Carlo Brugnara, L. Michael Snyder, Immacolata Andolfo, Achille Iolascon, Paulo A. Silveira, Nelson Hamerschlak, Philip Gottlieb, Seth L. Alper
Published 2018-10-01

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

by Immacolata Andolfo, Stefania Martone, Barbara Eleni Rosato, Roberta Marra, Antonella Gambale, Gian Luca Forni, Valeria Pinto, Magnus Göransson, Vasiliki Papadopoulou, Mathilde Gavillet, Mohsen Elalfy, Antonella Panarelli, Giovanna Tomaiuolo, Achille Iolascon, Roberta Russo
Published 2021-06-01

Data demonstrating the role of peroxiredoxin 2 as important anti-oxidant system in lung homeostasis

by Enrica Federti, Alessandro Matte, Alessandra Ghigo, Immacolata Andolfo, Cimino James, Angela Siciliano, Christophe Leboeuf, Anne Janin, Francesco Manna, Soo Young Choi, Achille Iolascon, Elisabetta Beneduce, Davide Melisi, Dae Won Kim, Sonia Levi, Lucia De Franceschi
Published 2017-12-01

MiR-34a targeting of Notch ligand delta-like 1 impairs CD15+/CD133+ tumor-propagating cells and supports neural differentiation in medulloblastoma.

by Pasqualino de Antonellis, Chiara Medaglia, Emilio Cusanelli, Immacolata Andolfo, Lucia Liguori, Gennaro De Vita, Marianeve Carotenuto, Annamaria Bello, Fabio Formiggini, Aldo Galeone, Giuseppe De Rosa, Antonella Virgilio, Immacolata Scognamiglio, Manuela Sciro, Giuseppe Basso, Johannes H Schulte, Giuseppe Cinalli, Achille Iolascon, Massimo Zollo
Published 2011-01-01

The EHA Research Roadmap: Anemias

by Achille Iolascon, Stefano Rivella, Nicholas P. Anagnou, Clara Camaschella, Dorine Swinkels, Martina U. Muckenthaler, Graça Porto, Wilma Barcellini, Immacolata Andolfo, Antonio M. Risitano, Antonis Kattamis, Maria Domenica Cappellini, Ali T. Taher, Lucia De Franceschi, David Rees, Roberta Russo, Hannah Tamary, Reinhard Stauder, Domenico Girelli
Published 2021-07-01

The Serum Metabolome of Moderate and Severe COVID-19 Patients Reflects Possible Liver Alterations Involving Carbon and Nitrogen Metabolism

by Marianna Caterino, Michele Costanzo, Roberta Fedele, Armando Cevenini, Monica Gelzo, Alessandro Di Minno, Immacolata Andolfo, Mario Capasso, Roberta Russo, Anna Annunziata, Cecilia Calabrese, Giuseppe Fiorentino, Maurizio D’Abbraccio, Chiara Dell’Isola, Francesco Maria Fusco, Roberto Parrella, Gabriella Fabbrocini, Ivan Gentile, Giuseppe Castaldo, Margherita Ruoppolo
Published 2021-09-01

Common variants at 21q22.3 locus influence MX1 and TMPRSS2 gene expression and susceptibility to severe COVID-19

by Immacolata Andolfo, Roberta Russo, Vito Alessandro Lasorsa, Sueva Cantalupo, Barbara Eleni Rosato, Ferdinando Bonfiglio, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Romolo Villani, Giuseppe Fiorentino, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso
Published 2021-04-01

The <i>TNFRSF13C</i> H159Y Variant Is Associated with Severe COVID-19: A Retrospective Study of 500 Patients from Southern Italy

by Roberta Russo, Immacolata Andolfo, Vito Alessandro Lasorsa, Sueva Cantalupo, Roberta Marra, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Gabriella Esposito, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso
Published 2021-06-01

MicroRNA-199b-5p impairs cancer stem cells through negative regulation of HES1 in medulloblastoma.

by Livia Garzia, Immacolata Andolfo, Emilio Cusanelli, Natascia Marino, Giuseppe Petrosino, Daniela De Martino, Veronica Esposito, Aldo Galeone, Luigi Navas, Silvia Esposito, Sara Gargiulo, Sarah Fattet, Vittoria Donofrio, Giuseppe Cinalli, Arturo Brunetti, Luigi Del Vecchio, Paul A Northcott, Olivier Delattre, Michael D Taylor, Achille Iolascon, Massimo Zollo
Published 2009-01-01

Regulatory Noncoding and Predicted Pathogenic Coding Variants of <i>CCR5</i> Predispose to Severe COVID-19

by Sueva Cantalupo, Vito Alessandro Lasorsa, Roberta Russo, Immacolata Andolfo, Giuseppe D’Alterio, Barbara Eleni Rosato, Giulia Frisso, Pasquale Abete, Gian Marco Cassese, Giuseppe Servillo, Ivan Gentile, Carmelo Piscopo, Matteo Della Monica, Giuseppe Fiorentino, Giuseppe Russo, Pellegrino Cerino, Carlo Buonerba, Biancamaria Pierri, Massimo Zollo, Achille Iolascon, Mario Capasso
Published 2021-05-01

Dysregulation of lipid metabolism and pathological inflammation in patients with COVID-19

by Marianna Caterino, Monica Gelzo, Stefano Sol, Roberta Fedele, Anna Annunziata, Cecilia Calabrese, Giuseppe Fiorentino, Maurizio D’Abbraccio, Chiara Dell’Isola, Francesco Maria Fusco, Roberto Parrella, Gabriella Fabbrocini, Ivan Gentile, Immacolata Andolfo, Mario Capasso, Michele Costanzo, Aurora Daniele, Emanuela Marchese, Rita Polito, Roberta Russo, Caterina Missero, Margherita Ruoppolo, Giuseppe Castaldo
Published 2021-02-01