Gianluca De Rosa

Children's Hospital of Philadelphia — United States

Medicine · Health Sciences

14h-index456citations28works0.02yr avg
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Research Topics

Erythrocyte Function and Pathophysiology(14), Hemoglobinopathies and Related Disorders(9), Blood properties and coagulation(5), Acute Lymphoblastic Leukemia research(4), Childhood Cancer Survivors' Quality of Life(4)

Publications28 total

Tmprss6-ASO as a tool for the treatment of Polycythemia Vera mice
PLoS ONE·2021· 20 citedOpen Access
Pain reduction induced by tapentadol in patients with musculoskeletal chronic pain fosters better sleep quality
Drugs in Context·2021· 2 citedOpen Access
Tmprss6-ASO as a tool for the treatment of Polycythemia Vera mice
SHILAP Revista de lepidopterología·2021· 1 citedOpen Access
Corrigendum: Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
Frontiers in Physiology·2020· 1 citedOpen Access
RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway
International Journal of Molecular Sciences·2020· 18 citedOpen Access
Uridine treatment normalizes the <scp>congenital dyserythropoietic anemia type</scp><scp>II</scp>‐like hematological phenotype in a patient with homozygous mutation in the <scp><i>CAD</i></scp> gene
American Journal of Hematology·2020· 14 citedOpen Access
UNRAVELING THE MOLECULAR PATHOGENESIS OF INEFFECTIVE ERYTHROPOIESIS IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II: IN VITRO EVALUATION OF RAP-011 TREATMENT
Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)·2020· 2 citedOpen Access
Gain‐of‐function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway
American Journal of Hematology·2019· 58 cited
The BMP‐SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE‐A260S variant
American Journal of Hematology·2019· 26 citedOpen Access
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition
Clinical Genetics·2019· 20 cited
Author response for "Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition"
2019
Author response for "Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition"
2019
Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein
Frontiers in Physiology·2019· 28 citedOpen Access
Author response for "Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition"
2019
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells
Frontiers in Physiology·2019· 41 citedOpen Access
PIEZO1 Hypomorphic Variants inCongenital Lymphatic DysplasiaCause Shape and HydrationAlterations of Red Blood Cells
2019
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis
Haematologica·2017· 21 citedOpen Access
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II
Haematologica·2017· 19 citedOpen Access
Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II
Blood·2016· 31 citedOpen Access
Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia
Haematologica·2016· 39 citedOpen Access
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Frequent Co-authors

Immacolata Andolfo(18), Achille Iolascon(18), Roberta Russo(17), Antonella Gambale(16), Francesco Manna(14), Barbara Eleni Rosato(9), Roberta Marra(7), Lucia De Franceschi(5), Lucia Quaglietta(4), Valentina Contestabile(4), Lucia De Martino(4), Rita Genesio(4), Piero Pignataro(4), Sabrina Giglio(4), Mario Capasso(4), Rosanna Parasole(4), Barbara Pasini(4), Domenico Girelli(3), Carlo Brugnara(2), Seth L. Alper(2)