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

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34 + progenitors

(2016) Marjorie Poggi et al.   HAEMATOLOGICA

Functional analysis of truncated forms of ETV6

(2015) Parisa Rasighaemi et al.   BRITISH JOURNAL OF HAEMATOLOGY

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 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

Unipotent Megakaryopoietic Pathway Bridging Hematopoietic Stem Cells and Mature Megakaryocytes

(2015) Hidekazu Nishikii et al.   STEM CELLS

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

(2015) Sabine Topka et al.   PLoS Genetics

New insights into the spatiotemporal localization of prothrombinase in vivo

(2014) L. Ivanciu 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

Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients

(2014) M Sakurai et al.   LEUKEMIA

Reprogrammed Cells for Disease Modeling and Regenerative Medicine

(2013) Anne B.C. Cherry et al.   Annual Review of Medicine

The negative impact of Wnt signaling on megakaryocyte and primitive erythroid progenitors derived from human embryonic stem cells

(2013) Prasuna Paluru et al.   Stem Cell Research

ETV6 fusion genes in hematological malignancies: A review

(2012) Etienne De Braekeleer et al.   LEUKEMIA RESEARCH

Genome-wide RNA-seq analysis of human and mouse platelet transcriptomes

(2011) J. W. Rowley et al.   BLOOD

Development of multilineage adult hematopoiesis in the zebrafish with a runx1 truncation mutation

(2010) R. Sood et al.   BLOOD

Generation of Transgene-Free Lung Disease-Specific Human Induced Pluripotent Stem Cells Using a Single Excisable Lentiviral Stem Cell Cassette

(2010) Aba Somers et al.   STEM CELLS