List of works - Alessandro Pecci

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

scientific article published on 18 January 2017

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

scientific article published on 11 October 2011

A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect

scientific article

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

scientific article published on 3 May 2017

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

scientific article published on 23 October 2018

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

scientific article

ANKRD26-related thrombocytopenia and myeloid malignancies

scientific article published on 01 September 2013

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

scientific article

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

scientific article

Apoptosis in Relation to CD34 Antigen Expression in Normal and Myelodysplastic Bone Marrow

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

scientific article

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

scientific article

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

scientific article published on 6 April 2017

Cell cycle distribution of cord blood-derived haematopoietic progenitor cells and their recruitment into the S-phase of the cell cycle

scientific article published on 01 March 2000

Chaperone molecules concentrate together with the ubiquitin-proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

scientific article published on 8 May 2015

Circulating CD34+, CD133+, and Vascular Endothelial Growth Factor Receptor 2–Positive Endothelial Progenitor Cells in Myelofibrosis With Myeloid Metaplasia

Clinical and biological effects of treatment with amifostine in myelodysplastic syndromes

scientific article published in July 2002

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

scientific article

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

scientific article

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

scientific article

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

scientific article

Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type

scientific article

Cochlear implantation is safe and effective in patients with MYH9-related disease

scientific article

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

scientific article

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

scientific journal article

Cutaneous involvement by post-polycythemia vera myelofibrosis

scientific article published on 30 July 2013

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

scientific article

Desmopressin and super platelets

scientific article published on 01 March 2014

Diagnosis and management of inherited thrombocytopenias

scientific article

Diagnosis and treatment of inherited thrombocytopenias.

scientific article

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.

scientific article

Diagnostic and clinical relevance of the number of circulating CD34+ cells in myelofibrosis with myeloid metaplasia

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

scientific article

Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis

scientific article

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

scientific article

Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia

scientific article published on 08 May 2019

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

scientific article published on 23 July 2009

Ex vivo immunosuppressive effects of mesenchymal stem cells on Crohn's disease mucosal T cells are largely dependent on indoleamine 2,3-dioxygenase activity and cell-cell contact.

scientific article

Expression of p53, Bcl-2 and Ras Oncoproteins and Apoptosis Levels in Acute Leukaemias and Myelodysplastic Syndromes ⬇️

scientific article published on July 1, 2001

Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes

scientific article

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

scientific article

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

scientific article

Hereditary thrombocytopenias: a growing list of disorders

scientific article published in December 2017

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

scientific article published on 9 February 2009

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

scientific article

Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction

scientific article published on 02 September 2004

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

scientific article published on 4 October 2017

Inherited thrombocytopenias-recent advances in clinical and molecular aspects

scientific article

Inherited thrombocytopenias: the evolving spectrum.

scientific article

Lessons in platelet production from inherited thrombocytopenias

scientific article

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

scientific article published on 27 December 2018

Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: a phase II trial.

scientific article

MYH9 gene mutations associated with bleeding

scientific article published on 3 April 2017

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

scientific article published in December 2009

MYH9-Related Disease

MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane

scientific article published on 17 April 2019

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

scientific article

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

scientific article

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

scientific article

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

scientific article

Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

scientific article published on 25 March 2015

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression ⬇️

scholarly article

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

scientific article

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

scientific article

Mutations of RUNX1 in families with inherited thrombocytopenia.

scientific article

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

scientific article

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

scientific article

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

scientific article

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

scientific article

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

scientific article published on 18 June 2015

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists ⬇️

scientific article published on May 1, 2013

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

scientific article published on 28 September 2020

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

scientific article

Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia

scientific article published on 01 January 2006

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity

scientific article

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

scientific article

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

scientific article

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

scientific article

Platelets from glioblastoma patients promote angiogenesis of tumor endothelial cells and exhibit increased VEGF content and release

scientific article published on 29 November 2016

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

scientific article

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

scientific article

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

scientific article

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

scientific article

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).

scientific article

Revealing eltrombopag's promotion of human megakaryopoiesis through AKT/ERK-dependent pathway activation

scientific article

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

scientific article

Spectrum of the mutations in Bernard-Soulier syndrome

scientific article

Spleen neoangiogenesis in patients with myelofibrosis with myeloid metaplasia

scientific article published in March 2004

The case ∣ proteinuria and low platelet count

scientific article

The expression of CXCR4 is down-regulated on the CD34+ cells of patients with myelofibrosis with myeloid metaplasia

scientific article

The irreversibility of platelet aggregation is regulated by myosin IIA, but is not compromised in MYH9-related disease

Thrombopoietin is not uniquely responsible for thrombocytosis in inflammatory disorders

scientific article published on 01 December 2007

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

scientific article

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

scientific article

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

scientific article

Unexplained recurrent venous thrombosis in a patient withMYH9-related disease

scholarly article by Paula G. Heller et al published January 2006 in Platelets

Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

scientific article published on 16 December 2019

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia

scientific article

List of works by Alessandro Pecci

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

ANKRD26-related thrombocytopenia and myeloid malignancies

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

Apoptosis in Relation to CD34 Antigen Expression in Normal and Myelodysplastic Bone Marrow

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Cell cycle distribution of cord blood-derived haematopoietic progenitor cells and their recruitment into the S-phase of the cell cycle

Chaperone molecules concentrate together with the ubiquitin-proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

Circulating CD34+, CD133+, and Vascular Endothelial Growth Factor Receptor 2–Positive Endothelial Progenitor Cells in Myelofibrosis With Myeloid Metaplasia

Clinical and biological effects of treatment with amifostine in myelodysplastic syndromes

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type

Cochlear implantation is safe and effective in patients with MYH9-related disease

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

Cutaneous involvement by post-polycythemia vera myelofibrosis

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

Desmopressin and super platelets

Diagnosis and management of inherited thrombocytopenias

Diagnosis and treatment of inherited thrombocytopenias.

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.

Diagnostic and clinical relevance of the number of circulating CD34+ cells in myelofibrosis with myeloid metaplasia

Dissecting clinical findings: platelet defects segregate independently of deafness and cataract in a family affected by an apparent syndromic form of macrothrombocytopenia.

Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

Ex vivo immunosuppressive effects of mesenchymal stem cells on Crohn's disease mucosal T cells are largely dependent on indoleamine 2,3-dioxygenase activity and cell-cell contact.

Expression of p53, Bcl-2 and Ras Oncoproteins and Apoptosis Levels in Acute Leukaemias and Myelodysplastic Syndromes ⬇️

Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Hereditary thrombocytopenias: a growing list of disorders

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Inherited thrombocytopenias-recent advances in clinical and molecular aspects

Inherited thrombocytopenias: the evolving spectrum.

Lessons in platelet production from inherited thrombocytopenias

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: a phase II trial.

MYH9 gene mutations associated with bleeding

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

MYH9-Related Disease

MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

Mutations Identified in Thrombocytopenia THC2 Are Likely to Dysregulate ANKRD26 Expression ⬇️

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Mutations of RUNX1 in families with inherited thrombocytopenia.

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists ⬇️

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity