Article
Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.
Blood - 5 Feb 2015
Antony-Debré Iléana, Manchev Vladimir T, Balayn Nathalie, Bluteau Dominique, Tomowiak Cécile, Legrand Céline, Langlois Thierry, Bawa Olivia, Tosca Lucie, Tachdjian Gérard, Leheup Bruno, Debili Najet, Plo Isabelle, Mills Jason A, French Deborah L, Weiss Mitchell J, Solary Eric, Favier Remi, Vainchenker William, Raslova Hana
Abstract excerpt
To explore how RUNX1 mutations predispose to leukemia, we generated induced pluripotent stem cells (iPSCs) from 2 pedigrees with germline RUNX1 mutations. The first, carrying a missense R174Q mutation, which acts as a dominant-negative mutant, is associated with thrombocytopenia and leukemia, and the second, carrying a monoallelic gene deletion inducing a haploinsufficiency, presents only as thrombocytopenia....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.