Ontology highlight
ABSTRACT:
SUBMITTER: Byrska-Bishop M
PROVIDER: S-EPMC4362246 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Byrska-Bishop Marta M VanDorn Daniel D Campbell Amy E AE Betensky Marisol M Arca Philip R PR Yao Yu Y Gadue Paul P Costa Fernando F FF Nemiroff Richard L RL Blobel Gerd A GA French Deborah L DL Hardison Ross C RC Weiss Mitchell J MJ Chou Stella T ST
The Journal of clinical investigation 20150126 3
Germline GATA1 mutations that result in the production of an amino-truncated protein termed GATA1s (where s indicates short) cause congenital hypoplastic anemia. In patients with trisomy 21, similar somatic GATA1s-producing mutations promote transient myeloproliferative disease and acute megakaryoblastic leukemia. Here, we demonstrate that induced pluripotent stem cells (iPSCs) from patients with GATA1-truncating mutations exhibit impaired erythroid potential, but enhanced megakaryopoiesis and m ...[more]