List of works - Immacolata Andolfo

Advances in understanding the pathogenesis of red cell membrane disorders

scientific article published on 31 July 2019

Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma.

scientific article

Correlation of NM23-H1 cytoplasmic expression with metastatic stage in human prostate cancer tissue.

scientific article published on 7 May 2011

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

scientific article published on 30 September 2017

Diagnosis and management of congenital dyserythropoietic anemias

scientific article

Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease.

scientific article published on May 2015

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

scientific article published on 05 May 2016

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

scientific article published on 26 May 2017

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

scientific article published on 09 December 2019

Genetic analysis of the novel SARS-CoV-2 host receptor TMPRSS2 in different populations

scientific article published on 25 April 2020

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

scientific article published on 02 October 2018

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

scientific article published on 15 July 2019

Hereditary stomatocytosis: An underdiagnosed condition

scientific article published on 3 October 2017

Hereditary xerocytosis revisited

scientific article published on 21 July 2014

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

scientific article published on 15 March 2019

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

Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma.

scientific article published on 19 July 2012

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

scientific article

Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells

scientific article published on 9 June 2015

Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma

scientific article published on 26 April 2020

Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias

scientific article published on 04 June 2018

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

scientific article

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

scientific article

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias

scientific article

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

scientific article published on 11 March 2013

New insights on hereditary erythrocyte membrane defects

scientific article

Next generation research and therapy in red blood cell diseases

scientific article published on May 2016

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

scientific article published on 15 July 2015

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

scientific article published on 30 November 2017

Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension

scientific article published on 08 August 2017

Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.

scientific article published on 10 July 2013

Recommendations regarding splenectomy in hereditary hemolytic anemias.

scientific article published on 26 May 2017

Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias

scientific article published in January 2015

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

scientific article

Resolution of sickle cell disease associated inflammation and tissue damage with 17R-Resolvin D1

scientific article published on 07 November 2018

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

scientific article

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

scientific article

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

scientific article published on 30 August 2019

The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma.

scientific article published on February 2012

The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma.

scientific article published on 12 March 2012

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

Uridine treatment restores the CDA II-like hematological phenotype in a patient with homozygous mutation in the CAD gene

scientific article published on 28 July 2020

List of works by Immacolata Andolfo

Advances in understanding the pathogenesis of red cell membrane disorders

Chromosome 9q and 16q loss identified by genome-wide pooled-analysis are associated with tumor aggressiveness in patients with classic medulloblastoma.

Correlation of NM23-H1 cytoplasmic expression with metastatic stage in human prostate cancer tissue.

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

Diagnosis and management of congenital dyserythropoietic anemias

Dietary ω-3 fatty acids protect against vasculopathy in a transgenic mouse model of sickle cell disease.

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

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

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

Genetic analysis of the novel SARS-CoV-2 host receptor TMPRSS2 in different populations

Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients

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

Hereditary stomatocytosis: An underdiagnosed condition

Hereditary xerocytosis revisited

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

Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma.

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

Inhibition of hypoxia inducible factors combined with all-trans retinoic acid treatment enhances glial transdifferentiation of neuroblastoma cells

Kinome multigenic panel identified novel druggable EPHB4-V871I somatic variant in high-risk neuroblastoma

Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias

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

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias

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

New insights on hereditary erythrocyte membrane defects

Next generation research and therapy in red blood cell diseases

Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).

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

Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension

Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.

Recommendations regarding splenectomy in hereditary hemolytic anemias.

Red cells in post-genomic era: impact of personalized medicine in the treatment of anemias

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

Resolution of sickle cell disease associated inflammation and tissue damage with 17R-Resolvin D1

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

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

The metallophosphodiesterase Mpped2 impairs tumorigenesis in neuroblastoma.

The micro-RNA 199b-5p regulatory circuit involves Hes1, CD15, and epigenetic modifications in medulloblastoma.

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

Uridine treatment restores the CDA II-like hematological phenotype in a patient with homozygous mutation in the CAD gene