Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias
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Title
Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias
Authors
Keywords
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Journal
Journal of Clinical Medicine
Volume 10, Issue 3, Pages 533
Publisher
MDPI AG
Online
2021-02-02
DOI
10.3390/jcm10030533
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Note: Only part of the references are listed.- Diagnosis of Inherited Platelet Disorders on a Blood Smear
- (2020) Carlo Zaninetti et al. Journal of Clinical Medicine
- Guidance on the diagnosis and management of Platelet- type von Willebrand Disease: a communication from the platelet physiology subcommittee of the ISTH
- (2020) Maha Othman et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome
- (2020) Matthew C. Sims et al. BLOOD
- Inherited thrombocytopenias: history, advances and perspectives
- (2020) Alan T. Nurden et al. HAEMATOLOGICA
- Eltrombopag to allow chemotherapy in a patient with MYH9-related inherited thrombocytopenia and pancreatic cancer
- (2020) Francesco Paciullo et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Membrane budding is a major mechanism of in vivo platelet biogenesis
- (2020) Kathryn S. Potts et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH
- (2020) Kate Downes et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Population based frequency of naturally occurring loss‐of‐function variants in genes associated with platelet disorders
- (2020) Joseph H. Oved et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Inherited thrombocytopenias: an updated guide for clinicians
- (2020) Alessandro Pecci et al. BLOOD REVIEWS
- Mechanisms of thrombocytopenia in platelet-type Von Willebrand Disease
- (2019) Loredana Bury et al. HAEMATOLOGICA
- Eltrombopag in preparation for surgery in patients with severe MYH9 ‐related thrombocytopenia
- (2019) Carlo Zaninetti et al. AMERICAN JOURNAL OF HEMATOLOGY
- Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders
- (2019) Kate Downes et al. BLOOD
- Curated disease‐causing genes for bleeding, thrombotic and platelet disorders: communication from the SSC of the ISTH
- (2019) Karyn Megy et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
- (2019) Claire Lentaigne et al. BLOOD
- Eltrombopag for the treatment of inherited thrombocytopenias: a phase 2 clinical trial
- (2019) Carlo Zaninetti et al. HAEMATOLOGICA
- Next‐generation sequencing for the diagnosis of MYH9 ‐RD: predicting pathogenic variants
- (2019) Loredana Bury et al. HUMAN MUTATION
- Inherited platelet disorders in women
- (2019) Paolo Gresele et al. THROMBOSIS RESEARCH
- Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC
- (2019) Paolo Gresele et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Mutation inGNEis associated with a severe form of congenital thrombocytopenia
- (2018) Jane Futterer et al. BLOOD
- Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice
- (2018) Inga Hofmann et al. BLOOD
- A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3 : evidence of a dominant effect of gain-of-function mutations
- (2018) Loredana Bury et al. HAEMATOLOGICA
- Laboratory diagnosis of clinically relevant platelet function disorders
- (2018) P. Gresele et al. International Journal of Laboratory Hematology
- The use of platelets in regenerative medicine and proposal for a new classification system: guidance from the SSC of the ISTH
- (2018) Paul Harrison et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- NBEAL2 mutations and bleeding in patients with gray platelet syndrome
- (2018) Fred G. Pluthero et al. PLATELETS
- A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3 : evidence of a dominant effect of gain-of-function mutations
- (2018) Loredana Bury et al. HAEMATOLOGICA
- The incomparable platelet: holy alveoli!
- (2018) Mark R. Looney BLOOD
- A new form of inherited thrombocytopenia caused by loss-of-function mutations in PTPRJ
- (2018) Caterina Marconi et al. BLOOD
- Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
- (2018) Tadbir K Bariana et al. HAEMATOLOGICA
- Platelet function assays in diagnosis: an update
- (2018) Paolo Gresele et al. Expert Review of Hematology
- Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
- (2018) Sharissa L. Latham et al. Nature Communications
- Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
- (2017) Sara Orsini et al. HAEMATOLOGICA
- Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias
- (2017) F. Melazzini et al. HAEMOPHILIA
- Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
- (2017) Irina Pleines et al. JOURNAL OF CLINICAL INVESTIGATION
- Gene of the issue: RUNX1 mutations and inherited bleeding
- (2017) Neil V. Morgan et al. PLATELETS
- Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
- (2017) Walter H. A. Kahr et al. Nature Communications
- Bleeding risk of surgery and its prevention in patients with inherited platelet disorders
- (2017) Sara Orsini et al. HAEMATOLOGICA
- A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
- (2016) S. Stritt et al. BLOOD
- A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
- (2016) I. Simeoni et al. BLOOD
- Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
- (2016) B. Johnson et al. HAEMATOLOGICA
- Inherited platelet function disorders
- (2016) Emanuela Falcinelli et al. Hamostaseologie
- Inherited thrombocytopenias—recent advances in clinical and molecular aspects
- (2016) Carlo L. Balduini et al. PLATELETS
- A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies
- (2016) Ernest Turro et al. Science Translational Medicine
- Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation
- (2016) Loredana Bury et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia
- (2016) C. Marconi et al. THROMBOSIS AND HAEMOSTASIS
- Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture
- (2016) Simon Stritt et al. Nature Communications
- Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects
- (2016) B. Johnson et al. HAEMATOLOGICA
- Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia
- (2015) Toshiki Takenouchi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Characterization of Novel Ribosome-Associated Endoribonuclease SLFN14 from Rabbit Reticulocytes
- (2015) Vera P. Pisareva et al. BIOCHEMISTRY
- Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia
- (2015) A. J. Gerrits et al. BLOOD
- Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1
- (2015) W. S. Stevenson et al. BLOOD
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
- (2015) L. Bury et al. HAEMATOLOGICA
- Outcomes Following Gene Therapy in Patients With Severe Wiskott-Aldrich Syndrome
- (2015) Salima Hacein-Bey Abina et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs
- (2015) Satoshi Nishimura et al. JOURNAL OF CELL BIOLOGY
- Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients
- (2015) Francesca Pala et al. JOURNAL OF CLINICAL INVESTIGATION
- SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
- (2015) Sarah J. Fletcher et al. JOURNAL OF CLINICAL INVESTIGATION
- Deleterious mutation in theFYBgene is associated with congenital autosomal recessive small-platelet thrombocytopenia
- (2015) C. Levin et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH
- (2015) P. Gresele et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia
- (2015) Leila Noetzli et al. NATURE GENETICS
- A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders
- (2015) Andrew D. Mumford et al. THROMBOSIS AND HAEMOSTASIS
- Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia
- (2015) L. Bury et al. HAEMATOLOGICA
- Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders
- (2014) P. Noris et al. BLOOD
- A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene
- (2014) V. T. Manchev et al. BLOOD
- The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects
- (2014) G. Colucci et al. BLOOD
- Systematic Analysis of Bleeding Phenotype in PT-VWD Compared to Type 2B VWD Using an Electronic Bleeding Questionnaire
- (2014) Harmanpreet Kaur et al. CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
- Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome
- (2014) Gilles Morin et al. HUMAN MUTATION
- Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene
- (2014) Koichi Oshima et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation
- (2014) Dominique Bluteau et al. JOURNAL OF CLINICAL INVESTIGATION
- Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients
- (2014) M Sakurai et al. LEUKEMIA
- Cochlear implantation is safe and effective in patients with MYH9-related disease
- (2014) Alessandro Pecci et al. Orphanet Journal of Rare Diseases
- Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
- (2014) V. Nesin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- ACTN1 Mutations Cause Congenital Macrothrombocytopenia
- (2013) Shinji Kunishima et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Wiskott-Aldrich syndrome: a comprehensive review
- (2013) Michel J. Massaad et al. Annals of the New York Academy of Sciences
- Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
- (2013) M. J. Dasouki et al. BLOOD
- Hemostatic Efficacy of a Traditional Medicinal Plant Extract (Ankaferd Blood Stopper) in Bleeding Control
- (2013) Ozgur Sogut et al. CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
- New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome
- (2013) Cornelis A Albers et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations
- (2013) Alessandro Pecci et al. HUMAN MUTATION
- The incredible journey: From megakaryocyte development to platelet formation
- (2013) Kellie R. Machlus et al. JOURNAL OF CELL BIOLOGY
- Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling
- (2013) Shinji Hirata et al. JOURNAL OF CLINICAL INVESTIGATION
- A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome
- (2013) Davide Monteferrario et al. NEW ENGLAND JOURNAL OF MEDICINE
- First Successful Use of Eltrombopag Before Surgery in a Child With MYH9-Related Thrombocytopenia
- (2013) R. Favier et al. PEDIATRICS
- Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome
- (2013) A. Aiuti et al. SCIENCE
- The platelet count in EDTA-anticoagulated blood from patients with thrombocytopenia may be underestimated when measured in routine laboratories
- (2012) Gian Marco Podda et al. AMERICAN JOURNAL OF HEMATOLOGY
- Inherited thrombocytopenias
- (2012) C. L. Balduini et al. Hamostaseologie
- Tranexamic Acid Reduces Blood Loss During Percutaneous Nephrolithotomy: A Prospective Randomized Controlled Study
- (2012) Santosh Kumar et al. JOURNAL OF UROLOGY
- Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome
- (2012) Alessandro Pecci et al. PLoS One
- Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes
- (2012) Loredana Bury et al. PLoS One
- Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombocytopenia
- (2012) Vittorio Necchi et al. THROMBOSIS AND HAEMOSTASIS
- Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome
- (2011) P. Nurden et al. BLOOD
- 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
- (2011) D. Moratto et al. BLOOD
- Use of autologous platelet-rich clots for the prevention of local injury bleeding in patients with severe inherited mucocutaneous bleeding disorders
- (2011) P. NURDEN et al. HAEMOPHILIA
- Correction of Murine Bernard–Soulier Syndrome by Lentivirus-mediated Gene Therapy
- (2011) Sachiko Kanaji et al. MOLECULAR THERAPY
- Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro
- (2011) Alessandra Balduini et al. PLATELETS
- Congenital Amegakaryocytic Thrombocytopenia: Clinical Presentation, Diagnosis, and Treatment
- (2011) Matthias Ballmaier et al. SEMINARS IN THROMBOSIS AND HEMOSTASIS
- X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options
- (2010) M. H. Albert et al. BLOOD
- Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations
- (2010) A. Pecci et al. BLOOD
- Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome
- (2009) M. Bosticardo et al. BLOOD
- Dominant inheritance of a novel integrin 3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families
- (2009) P. Gresele et al. HAEMATOLOGICA
- Diagnosis of platelet-type von Willebrand disease by flow cytometry
- (2009) S. Giannini et al. HAEMATOLOGICA
- Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation
- (2009) Alessandro Pecci et al. THROMBOSIS AND HAEMOSTASIS
- 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)
- (2009) A. Tosetto et al. THROMBOSIS RESEARCH
- Mutation of the 1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly
- (2008) S. Kunishima et al. BLOOD
- A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
- (2008) Ian M Morison et al. NATURE GENETICS
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