Gene of the issue: RUNX1 mutations and inherited bleeding

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

(2016) Veronique Latger-Cannard et al.   Orphanet Journal of Rare Diseases

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

(2016) B. Johnson et al.   HAEMATOLOGICA

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

(2013) J. Stockley et al.   BLOOD

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

(2012) I. Antony-Debre et al.   BLOOD

Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees

(2012) A Buijs et al.   LEUKEMIA

Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia

(2011) D. Bluteau et al.   BLOOD

CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML)

(2011) N. Shiba 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

Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation

(2010) Tobias Linden et al.   BRITISH JOURNAL OF HAEMATOLOGY

A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals

(2010) Stephen E. Langabeer et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Identification and molecular characterization of a novel 3′ mutation inRUNX1in a family with familial platelet disorder

(2010) Jane E. Churpek et al.   LEUKEMIA & LYMPHOMA

Hereditary thrombocytopenia and acute myeloid leukemia: a common link due to a germline mutation in the AML1 gene

(2009) Iris Appelmann et al.   ANNALS OF HEMATOLOGY

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder

(2009) C. Preudhomme et al.   BLOOD

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

(2008) C. J. Owen et al.   BLOOD

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

(2008) Mylène Béri-Dexheimer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

(2008) K. Kirito et al.   HAEMATOLOGICA