Article
Defective interaction of mutant calreticulin and SOCE in megakaryocytes from patients with myeloproliferative neoplasms.
Blood - 9 Jan 2020
Di Buduo Christian A, Abbonante Vittorio, Marty Caroline, Moccia Francesco, Rumi Elisa, Pietra Daniela, Soprano Paolo M, Lim Dmitry, Cattaneo Daniele, Iurlo Alessandra, Gianelli Umberto, Barosi Giovanni, Rosti Vittorio, Plo Isabelle, Cazzola Mario, Balduini Alessandra
Abstract excerpt
Approximately one-fourth of patients with essential thrombocythemia or primary myelofibrosis carry a somatic mutation of the calreticulin gene (CALR), the gene encoding for calreticulin. A 52-bp deletion (type I mutation) and a 5-bp insertion (type II mutation) are the most frequent genetic lesions. The mechanism(s) by which a CALR mutation leads to a myeloproliferative phenotype has been clarified only in part....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.