List of works - Andrea Pellagatti

5q- syndrome

scientific article published on January 2012

A novel polymorphism (219G>A) in the transferrin receptor gene

article

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine

scientific article published on 21 September 2021

Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q

scientific article

Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS.

scientific article

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies

scientific article published on 13 September 2012

Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts

scientific article published on 22 January 2013

Advances in the 5q- syndrome

scientific article published on 23 August 2010

Application of CRISPR/Cas9 genome editing to the study and treatment of disease

scientific article published on April 2015

Application of genome editing technologies to the study and treatment of hematological disease

scientific article published on 26 September 2015

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

scientific article

Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline

scientific article published in Nature Communications

Clinical and biological implications of driver mutations in myelodysplastic syndromes

scientific article published on 12 September 2013

Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression

scientific article published on October 2009

Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

scientific article

Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells

scientific article published on 11 March 2010

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published on 27 November 2014

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published in August 2015

Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion

scientific article published on 24 June 2015

Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts.

scientific article published on 20 March 2012

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

article

Gene expression and risk of leukemic transformation in myelodysplasia

scientific article

Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype.

scientific article

Gene expression profiling in polycythemia vera using cDNA microarray technology.

scientific article

Gene expression profiling in the myelodysplastic syndromes

scientific article

Gene expression profiling in the myelodysplastic syndromes using cDNA microarray technology

article

Gene expression profiling of CD34+cells in patients with the 5q− syndrome

article

Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF.

scientific article published on 12 April 2010

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes

scientific article published on 8 May 2008

Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome

scientific article published on January 2012

High and low, but not intermediate, PRAME expression levels are poor prognostic markers in myelodysplastic syndrome at disease presentation

scientific article published on 18 April 2013

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

article

IL8-CXCR2 pathway inhibition as a therapeutic strategy against MDS and AML stem cells

scientific article published on 25 March 2015

Identification of Gene Expression–Based Prognostic Markers in the Hematopoietic Stem Cells of Patients With Myelodysplastic Syndromes

article

Identification of a BRCA1-mRNA splicing complex required for efficient DNA repair and maintenance of genomic stability

scientific article

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

article

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

scientific article published on 03 August 2020

Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome

scientific article published on 01 April 2010

Inhibition of the TGF-beta receptor I kinase promotes hematopoiesis in MDS.

scientific article published on 12 May 2008

Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes

scientific article

Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients

scholarly article

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

scientific article

Low expression of the putative tumour suppressor gene gravin in chronic myeloid leukaemia, myelodysplastic syndromes and acute myeloid leukaemia.

scientific article

Marked down-regulation of nucleophosmin-1 is associated with advanced del(5q) myelodysplastic syndrome

scientific article published on 15 April 2011

Marked downregulation of the granulopoiesis regulator LEF1 is associated with disease progression in the myelodysplastic syndromes

scientific article

Meta-analysis of microarray studies reveals a novel hematopoietic progenitor cell signature and demonstrates feasibility of inter-platform data integration

scientific article published on 13 August 2008

Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C>T)

article

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

scientific article published on 19 August 2009

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics

scientific article

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

scientific article published on 24 July 2013

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo

scientific article published on 15 May 2014

Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS.

scientific article

Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

scientific article published on 24 November 2016

Recent Advances in the 5q- Syndrome

scientific article published on 20 May 2015

Reduced SMAD7 leads to overactivation of TGF-beta signaling in MDS that can be reversed by a specific inhibitor of TGF-beta receptor I kinase

scientific article published on 28 December 2010

Reduced translation of GATA1 in Diamond-Blackfan anemia

scientific article published on 01 July 2014

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes

scientific article published on 20 February 2019

SF3B1 mutations induce R-loop accumulation and DNA damage in MDS and leukemia cells with therapeutic implications

scientific article published on 19 February 2020

SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM)

scientific article published on 29 April 2020

Silencing of ASXL1 impairs the granulomonocytic lineage potential of human CD34⁺ progenitor cells

scientific article

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

scientific article

Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations

scientific article

TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups

scientific article published on 11 January 2019

TP53 suppression promotes erythropoiesis in del(5q) MDS, suggesting a targeted therapeutic strategy in lenalidomide-resistant patients

scientific article published on 16 September 2013

Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes

scientific article published on 05 July 2013

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

scientific article published on 20 May 2015

The G-protein-coupled receptor CLR is upregulated in an autocrine loop with adrenomedullin in clear cell renal cell carcinoma and associated with poor prognosis

scientific article published on 22 August 2013

The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease.

scientific article published in July 2001

The molecular pathogenesis of the myelodysplastic syndromes

scientific article

The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes

scientific article published on 15 September 2013

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts

scientific article

Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia

scientific article published on 24 December 2013

miR-21 mediates hematopoietic suppression in MDS by activating TGF-β signaling

scientific article published on 6 February 2013

List of works by Andrea Pellagatti

5q- syndrome

A novel polymorphism (219G>A) in the transferrin receptor gene

ASXL1 mutations are associated with distinct epigenomic alterations that lead to sensitivity to venetoclax and azacytidine

Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q

Aberrant overexpression of CD14 on granulocytes sensitizes the innate immune response in mDia1 heterozygous del(5q) MDS.

Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies

Activation of the mTOR signaling pathway by L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts

Advances in the 5q- syndrome

Application of CRISPR/Cas9 genome editing to the study and treatment of disease

Application of genome editing technologies to the study and treatment of hematological disease

CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q).

Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline

Clinical and biological implications of driver mutations in myelodysplastic syndromes

Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression

Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion

Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts.

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

Gene expression and risk of leukemic transformation in myelodysplasia

Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype.

Gene expression profiling in polycythemia vera using cDNA microarray technology.

Gene expression profiling in the myelodysplastic syndromes

Gene expression profiling in the myelodysplastic syndromes using cDNA microarray technology

Gene expression profiling of CD34+cells in patients with the 5q− syndrome

Gene expression profiling of erythroblasts from refractory anaemia with ring sideroblasts (RARS) and effects of G-CSF.

Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes

Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome

High and low, but not intermediate, PRAME expression levels are poor prognostic markers in myelodysplastic syndrome at disease presentation

High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression

IL8-CXCR2 pathway inhibition as a therapeutic strategy against MDS and AML stem cells

Identification of Gene Expression–Based Prognostic Markers in the Hematopoietic Stem Cells of Patients With Myelodysplastic Syndromes

Identification of a BRCA1-mRNA splicing complex required for efficient DNA repair and maintenance of genomic stability

Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the α-thalassemia myelodysplasia syndrome (ATMDS)

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

Induction of p53 and up-regulation of the p53 pathway in the human 5q- syndrome

Inhibition of the TGF-beta receptor I kinase promotes hematopoiesis in MDS.

Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes

Lenalidomide inhibits the malignant clone and up-regulates the SPARC gene mapping to the commonly deleted region in 5q- syndrome patients

Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis

Low expression of the putative tumour suppressor gene gravin in chronic myeloid leukaemia, myelodysplastic syndromes and acute myeloid leukaemia.

Marked down-regulation of nucleophosmin-1 is associated with advanced del(5q) myelodysplastic syndrome

Marked downregulation of the granulopoiesis regulator LEF1 is associated with disease progression in the myelodysplastic syndromes

Meta-analysis of microarray studies reveals a novel hematopoietic progenitor cell signature and demonstrates feasibility of inter-platform data integration

Molecular analysis of the TFR2 gene: Report of a novel polymorphism (1878C>T)

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo

Overexpression of IL-1 receptor accessory protein in stem and progenitor cells and outcome correlation in AML and MDS.

Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations

Recent Advances in the 5q- Syndrome

Reduced SMAD7 leads to overactivation of TGF-beta signaling in MDS that can be reversed by a specific inhibitor of TGF-beta receptor I kinase

Reduced translation of GATA1 in Diamond-Blackfan anemia

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes

SF3B1 mutations induce R-loop accumulation and DNA damage in MDS and leukemia cells with therapeutic implications

SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM)

Silencing of ASXL1 impairs the granulomonocytic lineage potential of human CD34⁺ progenitor cells

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations

TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups

TP53 suppression promotes erythropoiesis in del(5q) MDS, suggesting a targeted therapeutic strategy in lenalidomide-resistant patients

Targeted re-sequencing analysis of 25 genes commonly mutated in myeloid disorders in del(5q) myelodysplastic syndromes

Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

The G-protein-coupled receptor CLR is upregulated in an autocrine loop with adrenomedullin in clear cell renal cell carcinoma and associated with poor prognosis

The hemochromatosis gene affects the age of onset of sporadic Alzheimer's disease.

The molecular pathogenesis of the myelodysplastic syndromes

The role of splicing factor mutations in the pathogenesis of the myelodysplastic syndromes

The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts

Whole-exome sequencing in del(5q) myelodysplastic syndromes in transformation to acute myeloid leukemia

miR-21 mediates hematopoietic suppression in MDS by activating TGF-β signaling