(Q33407443)

26 July 2017

title

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists (English)

1 reference

26 July 2017

1 reference

Alessandro Pecci

1

0 references

publication date

1 May 2013

1 reference

International Journal of Hematology

26 July 2017

published in

1 reference

26 July 2017

volume

98

1 reference

26 July 2017

issue

1

1 reference

26 July 2017

page(s)

34-47

1 reference

Genetics of familial forms of thrombocytopenia

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

ACTN1 mutations cause congenital macrothrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

From hematopoietic stem cells to platelets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Regulation of megakaryocyte maturation and platelet formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Platelets: production, morphology and ultrastructure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Does size matter in platelet production?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Genome-wide analysis of simultaneous GATA1/2, RUNX1, FLI1, and SCL binding in megakaryocytes identifies hematopoietic regulators.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Platelet formation is the consequence of caspase activation within megakaryocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Two patterns of thrombopoietin signaling suggest no coupling between platelet production and thrombopoietin reactivity in thrombocytopenia-absent radii syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Familial myelodysplastic syndromes: a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Core binding factor at the crossroads: determining the fate of the HSC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

RUNX1-induced silencing of non-muscle myosin heavy chain IIB contributes to megakaryocyte polyploidization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Adhesive receptors, extracellular proteins and myosin IIA orchestrate proplatelet formation by human megakaryocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

A potential role for α-actinin in inside-out αIIbβ3 signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

The structure of the GPIb-filamin A complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Heterogeneity of platelet functional alterations in patients with filamin A mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

21 January 2018

Bernard-Soulier syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Overexpression of the partially activated alpha(IIb)beta3D723H integrin salt bridge mutant downregulates RhoA activity and induces microtubule-dependent proplatelet-like extensions in Chinese hamster ovary cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Wiskott-Aldrich syndrome: a comprehensive review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Rapid platelet turnover in WASP(-) mice correlates with increased ex vivo phagocytosis of opsonized WASP(-) platelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Antiplatelet antibodies in WASP(-) mice correlate with evidence of increased in vivo platelet consumption

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Deficiency in the Wiskott-Aldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Ankrd26 gene disruption enhances adipogenesis of mouse embryonic fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

The clinical importance of acquired abnormalities of platelet function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

A patient with Fechtner syndrome successfully treated with romiplostim.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Thrombopoietin-receptor agonists

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Congenital FVII deficiency and thrombotic events after replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Coronary Thrombosis in a Patient with May-Hegglin Anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Safety and efficacy of romiplostim in patients with lower-risk myelodysplastic syndrome and thrombocytopenia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Subcutaneous or intravenous administration of romiplostim in thrombocytopenic patients with lower risk myelodysplastic syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Romiplostim administration shows reduced megakaryocyte response-capacity and increased myelofibrosis in a mouse model of MYH9-RD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Unexplained recurrent venous thrombosis in a patient withMYH9-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Proplatelet formation is regulated by the Rho/ROCK pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12185-013-1351-7

Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).

21 January 2018

1 reference

12 December 2020

Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin.

1 reference

12 December 2020

Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome

1 reference

12 December 2020

Nature of the platelet defect in the Wiskott-Aldrich syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

1 reference

12 December 2020

Short-term eltrombopag for surgical preparation of a patient with inherited thrombocytopenia deriving from MYH9 mutation

1 reference

12 December 2020

Bernard-Soulier syndrome: quantitative characterization of megakaryocytes and platelets by flow cytometric and platelet kinetic measurements

1 reference

12 December 2020

Bernard-Soulier syndrome complicating pregnancy: a case report

1 reference

12 December 2020

Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome

1 reference

12 December 2020

Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome

1 reference

12 December 2020

Consequences of GATA-1 deficiency in megakaryocytes and platelets

1 reference

12 December 2020

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro

1 reference

12 December 2020

FLI-1 is a suppressor of erythroid differentiation in human hematopoietic cells

1 reference

12 December 2020

In vitro and in vivo effects of desmopressin on platelet function.

1 reference

12 December 2020

Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression

1 reference

12 December 2020

10.1007/S12185-013-1351-7

Identifiers

DOI

1 reference

Dimensions Publication ID

26 July 2017

1049883627

0 references

Fatcat ID

release_2aausqldbffbdfzbnei4hhxqae

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2aausqldbffbdfzbnei4hhxqae

24 November 2022

mapped directly with Wikidata item

1 reference