Gianluca De Rosa

Naples, Italy

Last Updated: 09/26/2026

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Found 13 publications

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

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

Journal: Frontiers in physiology
Published: July 10, 2020

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

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

Journal: International journal of molecular sciences
Published: July 09, 2020

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Journal: American journal of hematology
Published: May 04, 2020

Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.

Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.

Journal: American journal of hematology
Published: November 12, 2019

The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.

The BMP-SMAD pathway mediates the impaired hepatic iron metabolism associated with the ERFE-A260S variant.

Journal: American journal of hematology
Published: July 30, 2019

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.

Journal: Clinical genetics
Published: March 05, 2019

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

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

Journal: Frontiers in physiology
Published: December 03, 2018

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

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

Journal: Frontiers in physiology
Published: November 23, 2018

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.

Journal: Haematologica
Published: December 02, 2017

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.

Journal: Haematologica
Published: May 28, 2017

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

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

Journal: Blood
Published: August 20, 2016

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Journal: Haematologica
Published: January 12, 2016
Showing 1-12 of 13

Last Updated: 09/26/2026