List of works - Luigia De Falco

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

scientific article published on August 2009

Congenital dyserythropoietic anaemias: new acquisitions

scientific article published on 13 December 2010

Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing

scientific article published on 07 September 2019

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

scientific article

How I Diagnose Non-thalassemic Microcytic Anemias.

scientific article published on 03 June 2015

Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells.

scientific article published on 13 September 2013

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene

scientific article published on 27 September 2012

Iron refractory iron deficiency anemia

scientific article published on June 2013

Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations

scientific article published on 27 April 2016

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

scientific article

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

scientific article published on 11 March 2013

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

scientific article

Mutations in the gene encoding DMT1: clinical presentation and treatment.

scientific article published on October 2009

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

scientific article published in May 2010

Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in -thalassemic erythropoiesis ⬇️

scientific article published on July 12, 2011

Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.

scientific article

Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice

scientific article published on 23 August 2013

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

scientific article published on 01 January 2007

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

scientific article

The role of Matriptase-2 during the early postnatal development in humans

scientific article published on 22 January 2016

Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP⁺ as Parkinson's disease cellular model

scientific article published on 17 September 2013

List of works by Luigia De Falco

A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

Congenital dyserythropoietic anaemias: new acquisitions

Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies

How I Diagnose Non-thalassemic Microcytic Anemias.

Human skin-derived keratinocytes and fibroblasts co-cultured on 3D poly ε-caprolactone scaffold support in vitro HSC differentiation into T-lineage committed cells.

Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene

Iron refractory iron deficiency anemia

Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations

Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis

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

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

Mutations in the gene encoding DMT1: clinical presentation and treatment.

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA).

Oxidative stress modulates heme synthesis and induces peroxiredoxin-2 as a novel cytoprotective response in -thalassemic erythropoiesis ⬇️

Regulation of divalent metal transporter 1 (DMT1) non-IRE isoform by the microRNA Let-7d in erythroid cells.

Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

The role of Matriptase-2 during the early postnatal development in humans

Trasferrin receptor 2 gene regulation by microRNA 221 in SH-SY5Y cells treated with MPP⁺ as Parkinson's disease cellular model