Inherited platelet dysfunction and hematopoietic transcription factor mutations

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

(2016) I. Simeoni et al.   BLOOD

Paris-Trousseau: evidence keeps pointing to FLI1

(2015) J. Di Paola   BLOOD

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation

(2015) T. Moroy 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

Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis

(2015) Hiromitsu Iizuka et al.   EXPERIMENTAL HEMATOLOGY

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

Gray platelet syndrome: proinflammatory megakaryocytes and  -granule loss cause myelofibrosis and confer metastasis resistance in mice

(2014) J. A. Guerrero et al.   BLOOD

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

(2014) J. P. Connelly et al.   BLOOD

Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

(2014) I. Antony-Debre et al.   BLOOD

Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets

(2014) A. C. Glembotsky et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Transcriptional diversity during lineage commitment of human blood progenitors

(2014) L. Chen et al.   SCIENCE

Spotlight on FLI1, RUNX1, and platelet dysfunction

(2013) A. K. Rao   BLOOD

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

(2013) J. Stockley et al.   BLOOD

Congenital Thrombocytopenia

(2013) Riten Kumar et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Inherited Platelet Function Disorders

(2013) A. Koneti Rao   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

GFI1Bmutation causes a bleeding disorder with abnormal platelet function

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

Transcription factors in late megakaryopoiesis and related platelet disorders

(2013) M. R. Tijssen et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome

(2013) Davide Monteferrario et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2012) D. Bluteau et al.   BLOOD

MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations

(2012) I. Antony-Debre et al.   BLOOD

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

(2012) Larissa Lordier et al.   Nature Communications

RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9

(2011) Andrew R. Cullinane et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Platelet Protein Kinase C-θ Deficiency With Human RUNX1 Mutation

(2011) Gauthami Jalagadugula et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Transcription factor networks in erythroid cell and megakaryocyte development

(2011) L. C. Dore et al.   BLOOD

Genome-wide Analysis of Simultaneous GATA1/2, RUNX1, FLI1, and SCL Binding in Megakaryocytes Identifies Hematopoietic Regulators

(2011) Marloes R. Tijssen et al.   DEVELOPMENTAL CELL

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

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

(2011) Walter HA Kahr et al.   NATURE GENETICS

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

(2011) Cornelis A Albers 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

Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-  signaling at the bipotent erythro-megakaryocytic progenitor stage

(2010) V. Randrianarison-Huetz et al.   BLOOD

RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency

(2010) G. Kaur et al.   BLOOD

Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency

(2010) G. Jalagadugula et al.   BLOOD

Evidence that Growth factor independence 1b regulates dormancy and peripheral blood mobilization of hematopoietic stem cells

(2010) C. Khandanpour et al.   BLOOD

Mechanism of platelet factor 4 (PF4) deficiency with RUNX1 haplodeficiency: RUNX1 is a transcriptional regulator of PF4

(2010) K. ANEJA et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy

(2008) C. J. Owen et al.   BLOOD