Genetics of inherited thrombocytopenias

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

(2021) Justyne E. Ross et al.   Blood Advances

Massively parallel assessment of human variants with base editor screens

(2021) Ruth E. Hanna et al.   CELL

Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias

(2021) Loredana Bury et al.   Journal of Clinical Medicine

Inherited Platelet Disorders: An Updated Overview

(2021) Verónica Palma-Barqueros et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

(2021) Lara Wahlster et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases

(2021) T. Blaine Crowley et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome

(2021) Ella Nissan et al.   JOURNAL OF PEDIATRICS

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

(2021) Karyn Megy et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Diagnostic approach to the patient with a suspected inherited platelet disorder: Who and how to test

(2021) Juliana Perez Botero et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model

(2021) Sara Borst et al.   Stem Cell Reports

Macrophage galactose lectin is critical for Kupffer cells to clear aged platelets

(2020) Carsten Deppermann et al.   JOURNAL OF EXPERIMENTAL MEDICINE

An integrated approach to inherited platelet disorders: results from a research collaborative, the Sydney Platelet Group

(2020) David Rabbolini et al.   PATHOLOGY

Molecular Basis of ETV6-Mediated Predisposition to Childhood Acute Lymphoblastic Leukemia

(2020) Rina Nishii et al.   BLOOD

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

CAMT-MPL: Congenital Amegakaryocytic Thrombocytopenia caused by MPL mutations - Heterogeneity of a monogenic disorder - Comprehensive analysis of 56 patients

(2020) Manuela Germeshausen et al.   HAEMATOLOGICA

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

In vitro megakaryocyte culture from human bone marrow aspirates as a research and diagnostic tool

(2020) Kirill R Butov et al.   PLATELETS

ETV6 germline mutations cause HDAC3/NCOR2 mislocalization and upregulation of interferon response genes

(2020) Marlie H. Fisher et al.   JCI Insight

Inherited thrombocytopenias: an updated guide for clinicians

(2020) Alessandro Pecci et al.   BLOOD REVIEWS

Expanding Use of Clinical Genome Sequencing and the Need for More Data on Implementation

(2020) Kathryn A. Phillips et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Immunophenotype anomalies predict the development of autoimmune cytopenia in 22q11.2 Deletion Syndrome

(2019) Davide Montin et al.   Journal of Allergy and Clinical Immunology-In Practice

Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation

(2019) Nour J. Abdulhay et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Simplifying the diagnosis of inherited platelet disorders? The new tools do not make it any easier

(2019) Andreas Greinacher et al.   BLOOD

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

(2019) Claire Lentaigne et al.   BLOOD

New insights into cytoskeletal remodeling during platelet production

(2019) Dorsaf Ghalloussi et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family

(2019) Lore De Kock et al.   PLATELETS

Phenotypic and genetic heterogeneity arising from a novel substitution at amino acid position Val205 in GATA1 related X-linked thrombocytopenia with dyserythropoietic anemia

(2019) Manu Jamwal et al.   BLOOD CELLS MOLECULES AND DISEASES

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

(2018) Simone Martinelli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

(2018) Jessica Heremans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

(2018) Shoshana Revel-Vilk et al.   BLOOD

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

(2018) Alexandre Kauskot et al.   HAEMATOLOGICA

Inherited thrombocytopenia associated with mutation of UDP-Galactose-4-Epimerase (GALE)

(2018) Aaron Seo et al.   HUMAN MOLECULAR GENETICS

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

Hemizygosity for the Gene Encoding Glycoprotein Ib beta ( GPI bβ) Is Not Responsible for Macrothrombocytopenia and Bleeding in Patients with 22q11 Deletion Syndrome

(2018) N. M. J. Zwifelhofer et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

(2017) Harald Schulze et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia

(2017) Irina Pleines et al.   JOURNAL OF CLINICAL INVESTIGATION

The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis

(2017) Sebastian Drube et al.   JOURNAL OF IMMUNOLOGY

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation inARPC1B

(2017) Raz Somech et al.   JOURNAL OF IMMUNOLOGY

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

(2017) Takuya Takeichi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Sialylation on O-glycans protects platelets from clearance by liver Kupffer cells

(2017) Yun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

(2017) Harald Schulze et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

(2017) Paul Saultier et al.   HAEMATOLOGICA

Rare variants inGP1BBare responsible for autosomal dominant macrothrombocytopenia

(2016) Suthesh Sivapalaratnam et al.   BLOOD

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

(2016) S. Stritt et al.   BLOOD

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

(2016) Federica Melazzini et al.   HAEMATOLOGICA

The contribution of mouse models to the understanding of constitutional thrombocytopenia

(2016) C. Leon et al.   HAEMATOLOGICA

Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder

(2016) M. S. Badin et al.   International Journal of Laboratory Hematology

Establishment of a congenital amegakaryocytic thrombocytopenia model and a thrombocyte–specific reporter line in zebrafish

(2016) Q Lin et al.   LEUKEMIA

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

Family-Specific Variants and the Limits of Human Genetics

(2016) Brian H. Shirts et al.   TRENDS IN MOLECULAR MEDICINE

Defects in TRPM7 channel function deregulate thrombopoiesis through altered cellular Mg2+ homeostasis and cytoskeletal architecture

(2016) Simon Stritt et al.   Nature Communications

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

(2016) Federica Melazzini et al.   HAEMATOLOGICA

The contribution of mouse models to the understanding of constitutional thrombocytopenia

(2016) C. Leon et al.   HAEMATOLOGICA

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia

(2015) Tetsuya Niihori et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Macrothrombocytopenia and developmental delay with ade novo CDC42mutation: Yet another locus for thrombocytopenia and developmental delay

(2015) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

IL-1α induces thrombopoiesis through megakaryocyte rupture in response to acute platelet needs

(2015) Satoshi Nishimura et al.   JOURNAL OF CELL BIOLOGY

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

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study

(2015) Takaya Moriyama et al.   LANCET ONCOLOGY

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

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

(2015) Leila Noetzli et al.   NATURE GENETICS

A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5′UTRGATA1sSplice Mutation

(2015) Jacob Zucker et al.   PEDIATRIC BLOOD & CANCER

Unipotent Megakaryopoietic Pathway Bridging Hematopoietic Stem Cells and Mature Megakaryocytes

(2015) Hidekazu Nishikii et al.   STEM CELLS

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

(2015) Daniele Merico et al.   Nature Communications

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

(2015) Sabine Topka et al.   PLoS Genetics

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

(2014) V. T. Manchev et al.   BLOOD

Lessons in platelet production from inherited thrombocytopenias

(2014) Alessandro Pecci et al.   BRITISH JOURNAL OF HAEMATOLOGY

RecurrentGATA1mutations in Diamond-Blackfan anaemia

(2014) Joakim Klar et al.   BRITISH JOURNAL OF HAEMATOLOGY

Altered translation of GATA1 in Diamond-Blackfan anemia

(2014) Leif S Ludwig et al.   NATURE MEDICINE

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

(2014) Sara Parrella et al.   PEDIATRIC BLOOD & CANCER

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

Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia

(2013) Zhaoyue Wang et al.   AMERICAN JOURNAL OF HEMATOLOGY

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

(2013) J. Stockley et al.   BLOOD

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

The incredible journey: From megakaryocyte development to platelet formation

(2013) Kellie R. Machlus et al.   JOURNAL OF CELL BIOLOGY

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

(2013) W. S. Stevenson et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Platelet-biased stem cells reside at the apex of the haematopoietic stem-cell hierarchy

(2013) Alejandra Sanjuan-Pla et al.   NATURE

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems

(2013) Cedric Hermans et al.   PLATELETS

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

(2012) Gaetana Lanzi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2012) Cornelis A Albers et al.   NATURE GENETICS

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

(2011) Tommaso Pippucci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous ITGA2B R995W mutation inducing constitutive activation of the  IIb 3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia

(2011) S. Kunishima et al.   BLOOD

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

(2011) P. Nurden et al.   BLOOD

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

(2011) P. Noris et al.   BLOOD

Bernard-Soulier syndrome

(2011) M. C. Berndt et al.   HAEMATOLOGICA

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

(2011) P. Noris et al.   HAEMATOLOGICA

Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome

(2011) Walter HA Kahr et al.   NATURE GENETICS

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

(2011) Meral Gunay-Aygun et al.   NATURE GENETICS

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

(2010) M. Gunay-Aygun et al.   BLOOD

L718P mutation in the membrane-proximal cytoplasmic tail of  3 promotes abnormal  IIb 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype

(2010) A. Jayo et al.   HAEMATOLOGICA

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

Mutation of the  1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly

(2008) S. Kunishima et al.   BLOOD

Ablation of Gata1 in adult mice results in aplastic crisis, revealing its essential role in steady-state and stress erythropoiesis

(2008) L. Gutierrez 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

A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the  IIb 3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia

(2007) C. Ghevaert et al.   BLOOD