List of works - Roberta Russo

A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain

scientific article published on January 2010

A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population

scientific article

Advances in understanding the pathogenesis of red cell membrane disorders

scientific article published on 31 July 2019

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

scientific article

Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line

scientific article

Congenital dyserythropoietic anaemias: new acquisitions

scientific article published on 13 December 2010

Congenital dyserythropoietic anemias

scientific article published on 01 May 2011

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

scientific article

Diagnosis and management of congenital dyserythropoietic anemias

scientific article

Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C.

scientific article

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

Galectin-1 and its involvement in hepatocellular carcinoma aggressiveness

scientific article

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

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

scientific article published on March 2013

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

scientific article

Inherited hematological disorders due to defects in coat protein (COP)II complex.

scientific article published on 05 July 2012

Integration of pharmacogenetics and pharmacogenomics in drug development: implications for regulatory and medical decision making in pediatric diseases

scientific article published on 12 May 2011

Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients

scientific article

MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness

scientific article published on 10 June 2010

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

scientific article

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

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

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

scientific article

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

scientific article

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

Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives.

scientific article

Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients.

scientific article published on 22 June 2015

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

scientific article published on 04 August 2020

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

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

scientific article published on 07 December 2012

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

SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells

scientific article published on January 2009

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.

scientific article published on 12 April 2014

Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy

scientific article published on October 2007

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

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 Roberta Russo

A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain

A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population

Advances in understanding the pathogenesis of red cell membrane disorders

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

Comparative proteomic expression profile in all-trans retinoic acid differentiated neuroblastoma cell line

Congenital dyserythropoietic anaemias: new acquisitions

Congenital dyserythropoietic anemias

Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis

Diagnosis and management of congenital dyserythropoietic anemias

Elevated expression and polymorphisms of SOCS3 influence patient response to antiviral therapy in chronic hepatitis C.

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

Galectin-1 and its involvement in hepatocellular carcinoma aggressiveness

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

Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II

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

Inherited hematological disorders due to defects in coat protein (COP)II complex.

Integration of pharmacogenetics and pharmacogenomics in drug development: implications for regulatory and medical decision making in pediatric diseases

Kinome expression profiling of human neuroblastoma tumors identifies potential drug targets for ultra high-risk patients

MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness

Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia.

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

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.

Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

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

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).

Pediatric pharmacogenetic and pharmacogenomic studies: the current state and future perspectives.

Protease inhibitors-based therapy induces acquired spherocytic-like anaemia and ineffective erythropoiesis in chronic hepatitis C virus patients.

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

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.

Replication of GWAS-identified neuroblastoma risk loci strengthens the role of BARD1 and affirms the cumulative effect of genetic variations on disease susceptibility

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

SOCS3 and IRS-1 gene expression differs between genotype 1 and genotype 2 hepatitis C virus-infected HepG2 cells

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.

Suppressor of cytokine signaling 3 (SOCS3) expression and hepatitis C virus-related chronic hepatitis: Insulin resistance and response to antiviral therapy

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

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